Mutagenetix > Incidental Mutation

Incidental Mutation 'R7849:Bltp1'

606785

Institutional Source

Beutler Lab

Gene Symbol

Bltp1

Ensembl Gene

ENSMUSG00000037270

Gene Name

bridge-like lipid transfer protein family member 1

Synonyms

FSA, 4932438A13Rik, Tweek

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7849 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36917253-37107182 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37080477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 325 (I325N)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057272] [ENSMUST00000138950] [ENSMUST00000152564]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057272
AA Change: I3745N

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000060199
Gene: ENSMUSG00000037270
AA Change: I3745N

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
low complexity region	701	716	N/A	INTRINSIC
low complexity region	767	779	N/A	INTRINSIC
low complexity region	1127	1138	N/A	INTRINSIC
low complexity region	1154	1166	N/A	INTRINSIC
low complexity region	1226	1240	N/A	INTRINSIC
low complexity region	1381	1402	N/A	INTRINSIC
low complexity region	1541	1547	N/A	INTRINSIC
low complexity region	1593	1607	N/A	INTRINSIC
low complexity region	1810	1821	N/A	INTRINSIC
low complexity region	1981	1995	N/A	INTRINSIC
low complexity region	2182	2191	N/A	INTRINSIC
low complexity region	2336	2349	N/A	INTRINSIC
low complexity region	2614	2657	N/A	INTRINSIC
low complexity region	3468	3480	N/A	INTRINSIC
low complexity region	3717	3742	N/A	INTRINSIC
low complexity region	3816	3837	N/A	INTRINSIC
low complexity region	3919	3929	N/A	INTRINSIC
low complexity region	3941	3948	N/A	INTRINSIC
low complexity region	4024	4038	N/A	INTRINSIC
low complexity region	4041	4049	N/A	INTRINSIC
low complexity region	4117	4149	N/A	INTRINSIC
low complexity region	4172	4185	N/A	INTRINSIC
low complexity region	4359	4380	N/A	INTRINSIC
FSA_C	4386	4990	N/A	SMART
low complexity region	4993	5004	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117809
Gene: ENSMUSG00000037270
AA Change: I108N

Domain	Start	End	E-Value	Type
low complexity region	81	106	N/A	INTRINSIC
low complexity region	180	201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138950
AA Change: I282N

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118092
Gene: ENSMUSG00000037270
AA Change: I282N

Domain	Start	End	E-Value	Type
low complexity region	254	279	N/A	INTRINSIC
low complexity region	353	374	N/A	INTRINSIC
low complexity region	526	540	N/A	INTRINSIC
low complexity region	543	551	N/A	INTRINSIC
low complexity region	619	651	N/A	INTRINSIC
low complexity region	674	687	N/A	INTRINSIC
low complexity region	861	882	N/A	INTRINSIC
FSA_C	888	1492	N/A	SMART
low complexity region	1495	1506	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117814
Gene: ENSMUSG00000037270
AA Change: I325N

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
low complexity region	298	323	N/A	INTRINSIC
low complexity region	397	418	N/A	INTRINSIC
low complexity region	500	510	N/A	INTRINSIC
low complexity region	522	529	N/A	INTRINSIC
low complexity region	605	619	N/A	INTRINSIC
low complexity region	622	630	N/A	INTRINSIC
low complexity region	698	730	N/A	INTRINSIC
low complexity region	753	766	N/A	INTRINSIC
low complexity region	940	961	N/A	INTRINSIC
FSA_C	967	1571	N/A	SMART
low complexity region	1574	1585	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121356
Gene: ENSMUSG00000037270
AA Change: I485N

Domain	Start	End	E-Value	Type
low complexity region	121	133	N/A	INTRINSIC
low complexity region	167	177	N/A	INTRINSIC
low complexity region	458	483	N/A	INTRINSIC
low complexity region	557	578	N/A	INTRINSIC
low complexity region	730	744	N/A	INTRINSIC
low complexity region	747	755	N/A	INTRINSIC
low complexity region	823	855	N/A	INTRINSIC
low complexity region	878	891	N/A	INTRINSIC
low complexity region	1065	1086	N/A	INTRINSIC
FSA_C	1092	1696	N/A	SMART
low complexity region	1699	1710	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152564
AA Change: I3745N

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000117808
Gene: ENSMUSG00000037270
AA Change: I3745N

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
low complexity region	701	716	N/A	INTRINSIC
low complexity region	767	779	N/A	INTRINSIC
low complexity region	1127	1138	N/A	INTRINSIC
low complexity region	1154	1166	N/A	INTRINSIC
low complexity region	1226	1240	N/A	INTRINSIC
low complexity region	1381	1402	N/A	INTRINSIC
low complexity region	1541	1547	N/A	INTRINSIC
low complexity region	1593	1607	N/A	INTRINSIC
low complexity region	1810	1821	N/A	INTRINSIC
low complexity region	1981	1995	N/A	INTRINSIC
low complexity region	2182	2191	N/A	INTRINSIC
low complexity region	2336	2349	N/A	INTRINSIC
low complexity region	2614	2657	N/A	INTRINSIC
low complexity region	3468	3480	N/A	INTRINSIC
low complexity region	3717	3742	N/A	INTRINSIC
low complexity region	3816	3837	N/A	INTRINSIC
low complexity region	3919	3929	N/A	INTRINSIC
low complexity region	3941	3948	N/A	INTRINSIC
low complexity region	4024	4038	N/A	INTRINSIC
low complexity region	4041	4049	N/A	INTRINSIC
low complexity region	4117	4149	N/A	INTRINSIC
low complexity region	4172	4185	N/A	INTRINSIC
low complexity region	4359	4380	N/A	INTRINSIC
FSA_C	4386	4990	N/A	SMART
low complexity region	4993	5004	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	C	1: 89,558,141 (GRCm39)	V143A	probably damaging	Het
Agmo	A	G	12: 37,292,044 (GRCm39)	R2G	probably benign	Het
Alms1	A	T	6: 85,598,479 (GRCm39)	I1102L	possibly damaging	Het
Ankrd13a	T	C	5: 114,929,343 (GRCm39)	I140T	possibly damaging	Het
Arhgef10l	T	A	4: 140,311,245 (GRCm39)		probably null	Het
Atxn2l	A	T	7: 126,092,345 (GRCm39)	H967Q	possibly damaging	Het
B3galnt2	A	T	13: 14,169,077 (GRCm39)	N370I	probably benign	Het
Cacna1e	C	T	1: 154,509,464 (GRCm39)	D264N	probably damaging	Het
Ccdc112	A	T	18: 46,429,390 (GRCm39)	Y103N	probably benign	Het
Ccdc68	A	C	18: 70,080,246 (GRCm39)	E197A	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cntn3	T	C	6: 102,242,392 (GRCm39)	M418V	probably benign	Het
Cpne4	T	A	9: 104,563,718 (GRCm39)	C32S	probably damaging	Het
Csf2rb2	A	T	15: 78,168,621 (GRCm39)	S845T	probably benign	Het
Ctnnd2	T	G	15: 31,027,733 (GRCm39)	V1219G	probably damaging	Het
Cyp4f14	G	A	17: 33,128,325 (GRCm39)	A230V	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,094,214 (GRCm39)	C2897S	probably benign	Het
Elavl2	T	A	4: 91,260,280 (GRCm39)		probably benign	Het
Elp1	A	T	4: 56,758,968 (GRCm39)	S1191T	possibly damaging	Het
Fam135a	T	C	1: 24,083,331 (GRCm39)	E298G	probably damaging	Het
Fbn1	A	T	2: 125,151,405 (GRCm39)	I2534N	probably damaging	Het
Fibin	A	G	2: 110,192,825 (GRCm39)	S106P	probably damaging	Het
Fndc3a	C	T	14: 72,802,100 (GRCm39)	V568M	probably benign	Het
Frem2	A	G	3: 53,479,795 (GRCm39)	F1966S	probably damaging	Het
Gata4	T	G	14: 63,442,174 (GRCm39)	E216A	possibly damaging	Het
Gmps	T	A	3: 63,922,984 (GRCm39)	V649E	probably benign	Het
Golga4	A	T	9: 118,388,379 (GRCm39)	N1834Y	possibly damaging	Het
Gpr89	A	T	3: 96,778,806 (GRCm39)	Y422*	probably null	Het
Gzmc	A	T	14: 56,469,829 (GRCm39)	F157Y	probably benign	Het
Hdhd2	A	G	18: 77,052,962 (GRCm39)	D204G	probably damaging	Het
Hspa4	T	G	11: 53,171,530 (GRCm39)	T225P	possibly damaging	Het
Klhl30	T	A	1: 91,287,059 (GRCm39)	D448E	probably benign	Het
Kptn	A	G	7: 15,853,966 (GRCm39)	Y28C	probably damaging	Het
Krt10	A	T	11: 99,278,432 (GRCm39)	N242K	probably damaging	Het
Krt6b	A	T	15: 101,587,009 (GRCm39)	N254K	probably damaging	Het
Lama5	G	T	2: 179,843,605 (GRCm39)	D447E	probably damaging	Het
Lgr6	T	C	1: 134,915,419 (GRCm39)	Y720C	probably damaging	Het
Macf1	G	C	4: 123,301,392 (GRCm39)	P1037A	probably benign	Het
Map3k19	C	T	1: 127,751,383 (GRCm39)	G656D	probably benign	Het
Mroh7	A	C	4: 106,578,287 (GRCm39)	N130K	probably benign	Het
Muc16	T	C	9: 18,551,801 (GRCm39)	T4831A	probably benign	Het
Nfkb1	A	T	3: 135,291,173 (GRCm39)	L533H		Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or4x11	A	G	2: 89,867,626 (GRCm39)	Y121C	probably damaging	Het
Or51k1	C	A	7: 103,661,510 (GRCm39)	R133L	possibly damaging	Het
Or5m3b	G	A	2: 85,871,949 (GRCm39)	V97I	probably benign	Het
Or8a1	A	G	9: 37,642,003 (GRCm39)	I92T	probably damaging	Het
Or8g2b	A	G	9: 39,751,618 (GRCm39)	D296G	possibly damaging	Het
Otub1	T	C	19: 7,177,425 (GRCm39)	D74G	probably damaging	Het
Oxct2b	A	G	4: 123,010,680 (GRCm39)	E200G	probably damaging	Het
Pcdh1	T	C	18: 38,322,662 (GRCm39)	D1057G	probably benign	Het
Pkd1	T	A	17: 24,805,174 (GRCm39)	V3242E	probably damaging	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Pla2g4e	T	A	2: 120,015,803 (GRCm39)	D247V	probably benign	Het
Pole	T	A	5: 110,480,414 (GRCm39)	M1995K	probably benign	Het
Ppargc1a	T	C	5: 51,705,855 (GRCm39)	E76G	probably benign	Het
Pten	G	T	19: 32,777,396 (GRCm39)	R130L	probably damaging	Het
Ptprj	A	T	2: 90,274,804 (GRCm39)	V1186D	probably damaging	Het
Rab4a	T	A	8: 124,532,876 (GRCm39)	M1K	probably null	Het
Rapgef3	C	A	15: 97,656,271 (GRCm39)		probably null	Het
Rarb	C	A	14: 16,548,473 (GRCm38)	V83F	probably damaging	Het
Rgs22	A	T	15: 36,099,858 (GRCm39)	F410I	probably damaging	Het
Rhpn2	A	C	7: 35,080,912 (GRCm39)	E459A	probably benign	Het
Rims4	A	T	2: 163,705,974 (GRCm39)	L220Q	probably damaging	Het
Robo2	T	C	16: 73,770,132 (GRCm39)	T531A	possibly damaging	Het
Sbf2	T	C	7: 109,971,717 (GRCm39)	H839R	probably damaging	Het
Setbp1	T	C	18: 78,900,068 (GRCm39)	R1200G	probably benign	Het
Slc12a8	C	A	16: 33,444,930 (GRCm39)	P275T	probably damaging	Het
Slc23a1	G	T	18: 35,757,554 (GRCm39)	T239N	probably benign	Het
Slc37a3	T	A	6: 39,341,517 (GRCm39)	T40S	possibly damaging	Het
Speer4c1	T	C	5: 15,915,925 (GRCm39)		probably null	Het
Tet1	A	T	10: 62,655,252 (GRCm39)	H1556Q	possibly damaging	Het
Tfcp2l1	T	A	1: 118,603,325 (GRCm39)	D454E	probably damaging	Het
Timd6	T	A	11: 46,468,058 (GRCm39)	I44K	not run	Het
Tmem123	A	T	9: 7,790,890 (GRCm39)	M64L	probably benign	Het
Tmem62	A	T	2: 120,814,853 (GRCm39)	H172L	probably benign	Het
Trim15	T	G	17: 37,177,764 (GRCm39)	Y77S	probably benign	Het
Trim37	T	A	11: 87,092,270 (GRCm39)	V693E	possibly damaging	Het
Trim65	A	G	11: 116,017,082 (GRCm39)	L460S	probably damaging	Het
Ttc39a	T	C	4: 109,279,687 (GRCm39)	V109A	probably benign	Het
Ttc7	A	G	17: 87,600,374 (GRCm39)	M163V	probably null	Het
Vps13b	T	C	15: 35,423,378 (GRCm39)	S233P	probably damaging	Het
Vwf	T	C	6: 125,633,766 (GRCm39)	L2084P		Het
Wasl	A	G	6: 24,633,922 (GRCm39)	V114A	possibly damaging	Het
Wdr5	A	G	2: 27,409,463 (GRCm39)	S62G	probably damaging	Het
Wfdc11	G	T	2: 164,507,445 (GRCm39)	S4*	probably null	Het
Wfikkn2	C	A	11: 94,129,810 (GRCm39)	M110I	probably benign	Het
Wiz	T	G	17: 32,576,760 (GRCm39)	E588A	probably benign	Het
Xylt1	A	G	7: 117,255,891 (GRCm39)	H821R	probably benign	Het
Zbtb7c	A	T	18: 76,278,772 (GRCm39)	H410L	probably benign	Het
Zc3h18	T	A	8: 123,110,710 (GRCm39)	D186E	probably damaging	Het
Zfp687	G	T	3: 94,917,673 (GRCm39)	L700I	possibly damaging	Het
Zmym2	T	A	14: 57,184,020 (GRCm39)	M994K	probably benign	Het

Other mutations in Bltp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Bltp1	APN	3	37,065,876 (GRCm39)	missense	probably benign	0.00
IGL00434:Bltp1	APN	3	37,041,448 (GRCm39)	missense	probably damaging	0.98
IGL00640:Bltp1	APN	3	36,962,367 (GRCm39)	missense	probably damaging	1.00
IGL00693:Bltp1	APN	3	37,106,696 (GRCm39)	utr 3 prime	probably benign
IGL00721:Bltp1	APN	3	37,084,900 (GRCm39)	splice site	probably null
IGL00756:Bltp1	APN	3	36,962,367 (GRCm39)	missense	probably damaging	1.00
IGL00896:Bltp1	APN	3	37,093,611 (GRCm39)	missense	probably benign
IGL00902:Bltp1	APN	3	37,095,494 (GRCm39)	missense	probably damaging	1.00
IGL00980:Bltp1	APN	3	37,054,190 (GRCm39)	missense	probably damaging	1.00
IGL01019:Bltp1	APN	3	37,061,133 (GRCm39)	critical splice acceptor site	probably null
IGL01025:Bltp1	APN	3	37,100,429 (GRCm39)	missense	possibly damaging	0.89
IGL01306:Bltp1	APN	3	37,059,162 (GRCm39)	splice site	probably benign
IGL01370:Bltp1	APN	3	37,001,904 (GRCm39)	missense	probably benign	0.07
IGL01377:Bltp1	APN	3	37,027,601 (GRCm39)	critical splice donor site	probably null
IGL01401:Bltp1	APN	3	36,996,441 (GRCm39)	missense	probably benign
IGL01419:Bltp1	APN	3	37,102,270 (GRCm39)	missense	probably damaging	1.00
IGL01432:Bltp1	APN	3	37,057,908 (GRCm39)	missense	possibly damaging	0.87
IGL01433:Bltp1	APN	3	36,941,919 (GRCm39)	missense	probably damaging	1.00
IGL01452:Bltp1	APN	3	37,050,457 (GRCm39)	unclassified	probably benign
IGL01520:Bltp1	APN	3	37,027,409 (GRCm39)	nonsense	probably null
IGL01524:Bltp1	APN	3	36,996,531 (GRCm39)	missense	possibly damaging	0.90
IGL01628:Bltp1	APN	3	37,062,634 (GRCm39)	missense	probably damaging	1.00
IGL01638:Bltp1	APN	3	37,028,460 (GRCm39)	missense	probably damaging	1.00
IGL01650:Bltp1	APN	3	37,046,822 (GRCm39)	splice site	probably benign
IGL01717:Bltp1	APN	3	37,088,885 (GRCm39)	missense	probably benign
IGL01767:Bltp1	APN	3	37,095,512 (GRCm39)	missense	probably benign	0.29
IGL01813:Bltp1	APN	3	36,982,669 (GRCm39)	missense	possibly damaging	0.90
IGL01998:Bltp1	APN	3	37,011,165 (GRCm39)	missense	possibly damaging	0.49
IGL02172:Bltp1	APN	3	37,059,022 (GRCm39)	missense	probably damaging	0.99
IGL02197:Bltp1	APN	3	36,960,884 (GRCm39)	missense	probably damaging	1.00
IGL02248:Bltp1	APN	3	37,023,439 (GRCm39)	critical splice donor site	probably null
IGL02273:Bltp1	APN	3	36,975,586 (GRCm39)	splice site	probably benign
IGL02403:Bltp1	APN	3	37,084,813 (GRCm39)	missense	probably benign
IGL02492:Bltp1	APN	3	37,102,262 (GRCm39)	missense	probably benign	0.04
IGL02517:Bltp1	APN	3	37,013,017 (GRCm39)	missense	probably damaging	1.00
IGL02519:Bltp1	APN	3	36,949,464 (GRCm39)	missense	probably damaging	1.00
IGL02586:Bltp1	APN	3	37,098,757 (GRCm39)	nonsense	probably null
IGL02620:Bltp1	APN	3	37,090,094 (GRCm39)	missense	possibly damaging	0.95
IGL02621:Bltp1	APN	3	37,095,633 (GRCm39)	splice site	probably benign
IGL02670:Bltp1	APN	3	37,021,454 (GRCm39)	nonsense	probably null
IGL02806:Bltp1	APN	3	37,000,643 (GRCm39)	missense	possibly damaging	0.95
IGL02985:Bltp1	APN	3	37,012,906 (GRCm39)	missense	probably damaging	0.99
IGL03004:Bltp1	APN	3	37,019,826 (GRCm39)	splice site	probably benign
IGL03037:Bltp1	APN	3	37,023,356 (GRCm39)	missense	probably benign	0.23
IGL03037:Bltp1	APN	3	37,023,357 (GRCm39)	missense	probably damaging	1.00
IGL03062:Bltp1	APN	3	37,092,666 (GRCm39)	splice site	probably benign
IGL03137:Bltp1	APN	3	37,088,751 (GRCm39)	missense	probably damaging	0.98
IGL03150:Bltp1	APN	3	37,002,215 (GRCm39)	missense	probably damaging	1.00
IGL03204:Bltp1	APN	3	37,105,083 (GRCm39)	splice site	probably benign
IGL03207:Bltp1	APN	3	37,004,145 (GRCm39)	missense	possibly damaging	0.73
IGL03256:Bltp1	APN	3	36,960,832 (GRCm39)	splice site	probably benign
IGL03264:Bltp1	APN	3	37,056,784 (GRCm39)	missense	probably damaging	1.00
IGL03265:Bltp1	APN	3	37,102,140 (GRCm39)	missense	probably benign	0.00
IGL03303:Bltp1	APN	3	36,924,226 (GRCm39)	missense	possibly damaging	0.90
admonished	UTSW	3	37,002,453 (GRCm39)	missense	probably damaging	1.00
alerted	UTSW	3	37,087,414 (GRCm39)	missense	possibly damaging	0.85
informed	UTSW	3	37,019,998 (GRCm39)	missense	probably damaging	1.00
resolved	UTSW	3	36,975,370 (GRCm39)	missense	possibly damaging	0.60
tipped	UTSW	3	37,042,234 (GRCm39)	missense	possibly damaging	0.81
warned	UTSW	3	37,019,770 (GRCm39)	missense	probably damaging	1.00
FR4340:Bltp1	UTSW	3	37,104,901 (GRCm39)	critical splice acceptor site	probably benign
FR4737:Bltp1	UTSW	3	37,104,903 (GRCm39)	critical splice acceptor site	probably benign
PIT4515001:Bltp1	UTSW	3	37,028,385 (GRCm39)	missense	probably damaging	1.00
R0035:Bltp1	UTSW	3	37,041,747 (GRCm39)	nonsense	probably null
R0047:Bltp1	UTSW	3	36,962,341 (GRCm39)	missense	possibly damaging	0.83
R0047:Bltp1	UTSW	3	36,962,341 (GRCm39)	missense	possibly damaging	0.83
R0068:Bltp1	UTSW	3	37,006,370 (GRCm39)	missense	probably benign	0.28
R0068:Bltp1	UTSW	3	37,006,370 (GRCm39)	missense	probably benign	0.28
R0092:Bltp1	UTSW	3	37,082,308 (GRCm39)	missense	probably benign	0.41
R0233:Bltp1	UTSW	3	37,002,712 (GRCm39)	nonsense	probably null
R0233:Bltp1	UTSW	3	37,002,712 (GRCm39)	nonsense	probably null
R0256:Bltp1	UTSW	3	36,971,922 (GRCm39)	missense	probably benign	0.01
R0277:Bltp1	UTSW	3	36,997,331 (GRCm39)	nonsense	probably null
R0321:Bltp1	UTSW	3	36,960,937 (GRCm39)	splice site	probably null
R0323:Bltp1	UTSW	3	36,997,331 (GRCm39)	nonsense	probably null
R0335:Bltp1	UTSW	3	37,023,301 (GRCm39)	missense	probably damaging	1.00
R0375:Bltp1	UTSW	3	37,100,401 (GRCm39)	missense	probably damaging	0.99
R0437:Bltp1	UTSW	3	37,043,953 (GRCm39)	missense	possibly damaging	0.81
R0445:Bltp1	UTSW	3	37,054,214 (GRCm39)	missense	probably damaging	0.99
R0496:Bltp1	UTSW	3	37,041,784 (GRCm39)	missense	probably damaging	1.00
R0531:Bltp1	UTSW	3	37,090,974 (GRCm39)	missense	probably damaging	1.00
R0543:Bltp1	UTSW	3	37,050,607 (GRCm39)	missense	probably benign	0.22
R0545:Bltp1	UTSW	3	37,041,839 (GRCm39)	splice site	probably benign
R0674:Bltp1	UTSW	3	37,098,775 (GRCm39)	missense	possibly damaging	0.86
R0745:Bltp1	UTSW	3	36,982,612 (GRCm39)	missense	probably damaging	1.00
R0755:Bltp1	UTSW	3	37,000,513 (GRCm39)	missense	probably damaging	1.00
R0785:Bltp1	UTSW	3	37,013,483 (GRCm39)	splice site	probably benign
R1056:Bltp1	UTSW	3	37,098,829 (GRCm39)	missense	probably benign	0.44
R1056:Bltp1	UTSW	3	37,037,602 (GRCm39)	missense	possibly damaging	0.69
R1080:Bltp1	UTSW	3	37,042,404 (GRCm39)	missense	probably damaging	1.00
R1103:Bltp1	UTSW	3	37,050,672 (GRCm39)	missense	probably benign
R1119:Bltp1	UTSW	3	37,041,194 (GRCm39)	missense	probably damaging	1.00
R1170:Bltp1	UTSW	3	37,098,780 (GRCm39)	missense	probably damaging	0.98
R1183:Bltp1	UTSW	3	36,949,452 (GRCm39)	missense	possibly damaging	0.51
R1186:Bltp1	UTSW	3	37,050,461 (GRCm39)	unclassified	probably benign
R1201:Bltp1	UTSW	3	37,002,524 (GRCm39)	missense	probably benign
R1219:Bltp1	UTSW	3	37,000,619 (GRCm39)	nonsense	probably null
R1270:Bltp1	UTSW	3	37,006,333 (GRCm39)	missense	probably damaging	1.00
R1273:Bltp1	UTSW	3	37,041,359 (GRCm39)	missense	probably damaging	1.00
R1338:Bltp1	UTSW	3	37,106,684 (GRCm39)	missense	unknown
R1364:Bltp1	UTSW	3	37,041,179 (GRCm39)	missense	probably damaging	1.00
R1437:Bltp1	UTSW	3	36,996,578 (GRCm39)	missense	possibly damaging	0.65
R1447:Bltp1	UTSW	3	37,019,735 (GRCm39)	missense	probably damaging	0.98
R1467:Bltp1	UTSW	3	37,090,094 (GRCm39)	missense	probably damaging	0.99
R1467:Bltp1	UTSW	3	37,090,094 (GRCm39)	missense	probably damaging	0.99
R1470:Bltp1	UTSW	3	37,052,480 (GRCm39)	missense	probably benign	0.31
R1470:Bltp1	UTSW	3	37,052,480 (GRCm39)	missense	probably benign	0.31
R1481:Bltp1	UTSW	3	37,062,583 (GRCm39)	missense	probably damaging	0.99
R1528:Bltp1	UTSW	3	37,106,684 (GRCm39)	missense	unknown
R1533:Bltp1	UTSW	3	37,095,524 (GRCm39)	missense	probably damaging	1.00
R1546:Bltp1	UTSW	3	36,924,205 (GRCm39)	missense	possibly damaging	0.64
R1606:Bltp1	UTSW	3	36,996,548 (GRCm39)	missense	probably damaging	1.00
R1638:Bltp1	UTSW	3	37,089,961 (GRCm39)	nonsense	probably null
R1772:Bltp1	UTSW	3	37,013,581 (GRCm39)	missense	probably damaging	1.00
R1896:Bltp1	UTSW	3	36,962,380 (GRCm39)	nonsense	probably null
R1919:Bltp1	UTSW	3	37,061,132 (GRCm39)	critical splice acceptor site	probably null
R1983:Bltp1	UTSW	3	36,942,014 (GRCm39)	missense	probably null	1.00
R1987:Bltp1	UTSW	3	37,008,134 (GRCm39)	critical splice donor site	probably null
R1992:Bltp1	UTSW	3	37,054,181 (GRCm39)	missense	probably benign	0.32
R1999:Bltp1	UTSW	3	36,962,360 (GRCm39)	missense	probably damaging	1.00
R2004:Bltp1	UTSW	3	36,949,527 (GRCm39)	missense	possibly damaging	0.77
R2010:Bltp1	UTSW	3	36,982,700 (GRCm39)	missense	probably benign	0.09
R2027:Bltp1	UTSW	3	37,102,110 (GRCm39)	splice site	probably benign
R2039:Bltp1	UTSW	3	37,058,027 (GRCm39)	missense	possibly damaging	0.66
R2054:Bltp1	UTSW	3	37,002,002 (GRCm39)	missense	probably benign	0.01
R2089:Bltp1	UTSW	3	37,042,405 (GRCm39)	missense	probably damaging	1.00
R2091:Bltp1	UTSW	3	37,042,405 (GRCm39)	missense	probably damaging	1.00
R2091:Bltp1	UTSW	3	37,042,405 (GRCm39)	missense	probably damaging	1.00
R2091:Bltp1	UTSW	3	37,008,119 (GRCm39)	missense	probably damaging	1.00
R2220:Bltp1	UTSW	3	36,929,679 (GRCm39)	critical splice donor site	probably null
R2374:Bltp1	UTSW	3	36,939,545 (GRCm39)	missense	probably benign	0.00
R2437:Bltp1	UTSW	3	37,012,834 (GRCm39)	splice site	probably null
R2860:Bltp1	UTSW	3	37,019,998 (GRCm39)	missense	probably damaging	1.00
R2861:Bltp1	UTSW	3	37,019,998 (GRCm39)	missense	probably damaging	1.00
R2909:Bltp1	UTSW	3	37,002,102 (GRCm39)	missense	probably damaging	1.00
R2925:Bltp1	UTSW	3	37,061,271 (GRCm39)	missense	probably damaging	0.99
R2940:Bltp1	UTSW	3	37,012,954 (GRCm39)	missense	probably damaging	1.00
R3015:Bltp1	UTSW	3	36,929,611 (GRCm39)	missense	probably damaging	1.00
R3086:Bltp1	UTSW	3	37,065,852 (GRCm39)	missense	possibly damaging	0.56
R3159:Bltp1	UTSW	3	37,013,564 (GRCm39)	missense	probably benign	0.17
R3440:Bltp1	UTSW	3	37,096,061 (GRCm39)	nonsense	probably null
R3703:Bltp1	UTSW	3	37,041,730 (GRCm39)	missense	probably damaging	1.00
R3705:Bltp1	UTSW	3	37,041,730 (GRCm39)	missense	probably damaging	1.00
R3795:Bltp1	UTSW	3	37,084,714 (GRCm39)	missense	probably benign	0.30
R3820:Bltp1	UTSW	3	37,094,583 (GRCm39)	missense	probably damaging	1.00
R3862:Bltp1	UTSW	3	36,939,547 (GRCm39)	missense	possibly damaging	0.73
R3944:Bltp1	UTSW	3	37,084,210 (GRCm39)	missense	possibly damaging	0.90
R4020:Bltp1	UTSW	3	37,066,724 (GRCm39)	intron	probably benign
R4091:Bltp1	UTSW	3	37,084,738 (GRCm39)	missense	probably benign	0.00
R4159:Bltp1	UTSW	3	36,985,232 (GRCm39)	missense	probably benign	0.00
R4231:Bltp1	UTSW	3	36,974,385 (GRCm39)	missense	probably benign	0.10
R4368:Bltp1	UTSW	3	37,042,296 (GRCm39)	nonsense	probably null
R4413:Bltp1	UTSW	3	37,012,830 (GRCm39)	splice site	probably null
R4475:Bltp1	UTSW	3	37,094,544 (GRCm39)	missense	probably damaging	1.00
R4488:Bltp1	UTSW	3	37,058,082 (GRCm39)	missense	probably null	0.93
R4489:Bltp1	UTSW	3	37,058,082 (GRCm39)	missense	probably null	0.93
R4516:Bltp1	UTSW	3	36,949,460 (GRCm39)	missense	possibly damaging	0.90
R4580:Bltp1	UTSW	3	37,084,174 (GRCm39)	missense	probably benign	0.02
R4672:Bltp1	UTSW	3	36,944,139 (GRCm39)	makesense	probably null
R4705:Bltp1	UTSW	3	37,096,038 (GRCm39)	missense	probably benign	0.03
R4735:Bltp1	UTSW	3	37,059,116 (GRCm39)	missense	possibly damaging	0.84
R4741:Bltp1	UTSW	3	36,996,524 (GRCm39)	missense	probably damaging	0.99
R4754:Bltp1	UTSW	3	37,076,615 (GRCm39)	nonsense	probably null
R4778:Bltp1	UTSW	3	36,991,214 (GRCm39)	missense	possibly damaging	0.90
R4833:Bltp1	UTSW	3	37,019,117 (GRCm39)	missense	probably damaging	0.96
R4896:Bltp1	UTSW	3	37,020,086 (GRCm39)	missense	probably damaging	1.00
R4910:Bltp1	UTSW	3	37,052,348 (GRCm39)	missense	probably damaging	1.00
R4922:Bltp1	UTSW	3	37,041,314 (GRCm39)	missense	probably damaging	1.00
R4941:Bltp1	UTSW	3	36,974,050 (GRCm39)	missense	probably benign	0.41
R4941:Bltp1	UTSW	3	36,971,851 (GRCm39)	missense	probably damaging	1.00
R4980:Bltp1	UTSW	3	36,997,461 (GRCm39)	missense	probably damaging	1.00
R5030:Bltp1	UTSW	3	36,997,548 (GRCm39)	intron	probably benign
R5049:Bltp1	UTSW	3	37,095,539 (GRCm39)	missense	probably damaging	1.00
R5049:Bltp1	UTSW	3	37,094,655 (GRCm39)	intron	probably benign
R5089:Bltp1	UTSW	3	37,041,651 (GRCm39)	missense	probably benign	0.02
R5092:Bltp1	UTSW	3	37,054,234 (GRCm39)	missense	probably benign	0.14
R5122:Bltp1	UTSW	3	37,088,906 (GRCm39)	splice site	probably null
R5210:Bltp1	UTSW	3	37,087,414 (GRCm39)	missense	possibly damaging	0.85
R5246:Bltp1	UTSW	3	37,102,199 (GRCm39)	missense	probably damaging	1.00
R5289:Bltp1	UTSW	3	37,054,258 (GRCm39)	missense	probably damaging	0.97
R5348:Bltp1	UTSW	3	37,102,295 (GRCm39)	missense	probably damaging	1.00
R5394:Bltp1	UTSW	3	36,971,817 (GRCm39)	missense	probably damaging	1.00
R5434:Bltp1	UTSW	3	36,929,665 (GRCm39)	missense	probably damaging	1.00
R5667:Bltp1	UTSW	3	36,971,826 (GRCm39)	missense	probably benign	0.00
R5686:Bltp1	UTSW	3	36,971,809 (GRCm39)	missense	probably benign	0.00
R5701:Bltp1	UTSW	3	36,975,509 (GRCm39)	missense	probably benign	0.10
R5778:Bltp1	UTSW	3	37,012,863 (GRCm39)	missense	probably damaging	1.00
R5787:Bltp1	UTSW	3	37,046,882 (GRCm39)	splice site	probably null
R5800:Bltp1	UTSW	3	37,106,592 (GRCm39)	missense	probably damaging	1.00
R5819:Bltp1	UTSW	3	37,102,749 (GRCm39)	missense	probably benign	0.12
R5820:Bltp1	UTSW	3	37,093,675 (GRCm39)	missense	probably benign	0.00
R5952:Bltp1	UTSW	3	37,019,770 (GRCm39)	missense	probably damaging	1.00
R5975:Bltp1	UTSW	3	37,023,370 (GRCm39)	missense	possibly damaging	0.64
R5996:Bltp1	UTSW	3	36,985,265 (GRCm39)	missense	probably benign	0.07
R6192:Bltp1	UTSW	3	37,042,318 (GRCm39)	missense	probably benign	0.00
R6225:Bltp1	UTSW	3	37,002,453 (GRCm39)	missense	probably damaging	1.00
R6234:Bltp1	UTSW	3	37,037,620 (GRCm39)	missense	probably benign	0.00
R6244:Bltp1	UTSW	3	37,011,148 (GRCm39)	missense	probably benign
R6263:Bltp1	UTSW	3	36,985,260 (GRCm39)	missense	probably benign	0.06
R6351:Bltp1	UTSW	3	36,962,377 (GRCm39)	missense	probably damaging	1.00
R6380:Bltp1	UTSW	3	37,087,456 (GRCm39)	missense	probably benign	0.19
R6468:Bltp1	UTSW	3	37,062,592 (GRCm39)	missense	probably damaging	1.00
R6759:Bltp1	UTSW	3	37,042,234 (GRCm39)	missense	possibly damaging	0.81
R6792:Bltp1	UTSW	3	37,065,715 (GRCm39)	critical splice acceptor site	probably null
R6809:Bltp1	UTSW	3	36,928,431 (GRCm39)	missense	probably damaging	0.98
R6841:Bltp1	UTSW	3	37,075,630 (GRCm39)	missense	probably damaging	1.00
R6959:Bltp1	UTSW	3	37,021,338 (GRCm39)	missense	probably damaging	1.00
R7102:Bltp1	UTSW	3	36,994,947 (GRCm39)	missense	probably damaging	0.99
R7188:Bltp1	UTSW	3	37,004,162 (GRCm39)	missense	probably benign	0.06
R7212:Bltp1	UTSW	3	37,102,158 (GRCm39)	missense
R7425:Bltp1	UTSW	3	37,037,543 (GRCm39)	missense	probably benign	0.02
R7425:Bltp1	UTSW	3	37,002,490 (GRCm39)	missense	probably benign
R7451:Bltp1	UTSW	3	37,076,956 (GRCm39)	splice site	probably null
R7604:Bltp1	UTSW	3	37,003,992 (GRCm39)	splice site	probably null
R7622:Bltp1	UTSW	3	37,002,562 (GRCm39)	nonsense	probably null
R7671:Bltp1	UTSW	3	36,997,380 (GRCm39)	missense	probably damaging	0.99
R7699:Bltp1	UTSW	3	37,080,303 (GRCm39)	missense	probably benign	0.00
R7699:Bltp1	UTSW	3	37,028,321 (GRCm39)	missense	possibly damaging	0.67
R7700:Bltp1	UTSW	3	37,028,321 (GRCm39)	missense	possibly damaging	0.67
R7700:Bltp1	UTSW	3	37,080,303 (GRCm39)	missense	probably benign	0.00
R7748:Bltp1	UTSW	3	37,013,484 (GRCm39)	critical splice acceptor site	probably null
R7767:Bltp1	UTSW	3	36,974,436 (GRCm39)	critical splice donor site	probably null
R7787:Bltp1	UTSW	3	36,939,557 (GRCm39)	missense	probably damaging	1.00
R7830:Bltp1	UTSW	3	37,019,081 (GRCm39)	frame shift	probably null
R7912:Bltp1	UTSW	3	37,061,218 (GRCm39)	missense	probably damaging	0.99
R7914:Bltp1	UTSW	3	37,000,432 (GRCm39)	missense	probably benign	0.13
R7945:Bltp1	UTSW	3	37,020,042 (GRCm39)	missense	probably benign	0.03
R8039:Bltp1	UTSW	3	36,997,363 (GRCm39)	missense	probably benign	0.12
R8101:Bltp1	UTSW	3	37,062,651 (GRCm39)	missense	probably damaging	1.00
R8143:Bltp1	UTSW	3	37,000,657 (GRCm39)	critical splice donor site	probably null
R8145:Bltp1	UTSW	3	37,052,416 (GRCm39)	missense	probably damaging	1.00
R8171:Bltp1	UTSW	3	37,029,862 (GRCm39)	missense	probably benign	0.00
R8210:Bltp1	UTSW	3	37,067,030 (GRCm39)	missense
R8250:Bltp1	UTSW	3	36,971,811 (GRCm39)	missense	probably damaging	0.99
R8369:Bltp1	UTSW	3	37,065,752 (GRCm39)	missense
R8478:Bltp1	UTSW	3	37,087,426 (GRCm39)	missense	possibly damaging	0.74
R8558:Bltp1	UTSW	3	37,102,750 (GRCm39)	missense
R8688:Bltp1	UTSW	3	37,090,066 (GRCm39)	missense
R8724:Bltp1	UTSW	3	36,945,042 (GRCm39)	missense	probably damaging	0.99
R8818:Bltp1	UTSW	3	37,050,697 (GRCm39)	missense	possibly damaging	0.60
R8869:Bltp1	UTSW	3	37,013,007 (GRCm39)	missense	probably damaging	0.99
R8887:Bltp1	UTSW	3	37,087,503 (GRCm39)	missense	possibly damaging	0.95
R8899:Bltp1	UTSW	3	37,042,429 (GRCm39)	missense	probably damaging	1.00
R8907:Bltp1	UTSW	3	37,002,295 (GRCm39)	nonsense	probably null
R8960:Bltp1	UTSW	3	37,067,132 (GRCm39)	missense	probably damaging	1.00
R8990:Bltp1	UTSW	3	36,975,370 (GRCm39)	missense	possibly damaging	0.60
R9021:Bltp1	UTSW	3	37,052,493 (GRCm39)	missense	probably benign	0.00
R9048:Bltp1	UTSW	3	37,065,926 (GRCm39)	missense
R9100:Bltp1	UTSW	3	37,098,907 (GRCm39)	missense
R9166:Bltp1	UTSW	3	37,041,516 (GRCm39)	missense	probably damaging	1.00
R9176:Bltp1	UTSW	3	37,010,852 (GRCm39)	missense	possibly damaging	0.82
R9202:Bltp1	UTSW	3	36,944,970 (GRCm39)	missense	probably benign
R9303:Bltp1	UTSW	3	37,098,969 (GRCm39)	missense
R9305:Bltp1	UTSW	3	37,098,969 (GRCm39)	missense
R9332:Bltp1	UTSW	3	37,104,989 (GRCm39)	missense
R9362:Bltp1	UTSW	3	37,011,162 (GRCm39)	missense	probably benign
R9493:Bltp1	UTSW	3	37,065,885 (GRCm39)	missense
R9534:Bltp1	UTSW	3	37,052,419 (GRCm39)	missense	probably benign	0.01
R9569:Bltp1	UTSW	3	37,066,770 (GRCm39)	missense
R9593:Bltp1	UTSW	3	37,002,090 (GRCm39)	missense	probably damaging	1.00
R9600:Bltp1	UTSW	3	37,095,565 (GRCm39)	nonsense	probably null
R9733:Bltp1	UTSW	3	37,102,732 (GRCm39)	missense
R9751:Bltp1	UTSW	3	37,065,889 (GRCm39)	missense
RF013:Bltp1	UTSW	3	37,104,906 (GRCm39)	critical splice acceptor site	probably benign
RF015:Bltp1	UTSW	3	37,104,897 (GRCm39)	critical splice acceptor site	probably benign
RF021:Bltp1	UTSW	3	37,104,897 (GRCm39)	critical splice acceptor site	probably benign
RF023:Bltp1	UTSW	3	37,104,909 (GRCm39)	critical splice acceptor site	probably benign
RF034:Bltp1	UTSW	3	37,104,909 (GRCm39)	critical splice acceptor site	probably benign
RF035:Bltp1	UTSW	3	37,104,907 (GRCm39)	critical splice acceptor site	probably benign
RF055:Bltp1	UTSW	3	37,104,906 (GRCm39)	critical splice acceptor site	probably benign
X0050:Bltp1	UTSW	3	37,011,277 (GRCm39)	missense	probably damaging	1.00
Z1088:Bltp1	UTSW	3	37,041,716 (GRCm39)	missense	probably damaging	1.00
Z1177:Bltp1	UTSW	3	37,037,589 (GRCm39)	missense	possibly damaging	0.88
Z1177:Bltp1	UTSW	3	36,974,099 (GRCm39)	missense	probably benign
Z1177:Bltp1	UTSW	3	37,090,856 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TCAAATAGTGAAGGATCGTGTTCAG -3'
(R):5'- CCCAGGAGGAATATTGTTCTTTCC -3'

Sequencing Primer
(F):5'- GTTCAGTGTTCAGCTCTCCCAAAAC -3'
(R):5'- AGAGCCTGCCATGTAGTTCAG -3'

Posted On

2019-12-20