Mutagenetix > Incidental Mutation

Incidental Mutation 'R1791:Bltp3a'

201781

Institutional Source

Beutler Lab

Gene Symbol

Bltp3a

Ensembl Gene

ENSMUSG00000039512

Gene Name

bridge-like lipid transfer protein family member 3A

Synonyms

1110020K19Rik, F830021D11Rik, Uhrf1bp1

MMRRC Submission

039821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1791 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28075481-28119014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28113720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1297 (D1297E)

Ref Sequence

ENSEMBL: ENSMUSP00000110499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114849]

AlphaFold

B2KF50

Predicted Effect

probably damaging
Transcript: ENSMUST00000114849
AA Change: D1297E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: D1297E

Domain	Start	End	E-Value	Type
Pfam:Chorein_N	1	104	2.6e-18	PFAM
low complexity region	234	247	N/A	INTRINSIC
low complexity region	297	306	N/A	INTRINSIC
low complexity region	1128	1144	N/A	INTRINSIC
low complexity region	1200	1216	N/A	INTRINSIC
low complexity region	1322	1333	N/A	INTRINSIC
low complexity region	1375	1386	N/A	INTRINSIC
coiled coil region	1394	1424	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137825

Meta Mutation Damage Score

0.2453

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

95% (104/110)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Adrm1b	T	A	3: 92,335,538 (GRCm39)	D388V	probably damaging	Het
Akap13	T	G	7: 75,260,783 (GRCm39)	C333G	probably benign	Het
Akap6	T	C	12: 53,115,908 (GRCm39)	S1004P	probably damaging	Het
Akap7	T	C	10: 25,115,583 (GRCm39)	T181A	probably benign	Het
Ap3b1	A	G	13: 94,545,305 (GRCm39)	E186G	possibly damaging	Het
Arhgap17	T	C	7: 122,885,925 (GRCm39)	T736A	probably benign	Het
Bmp8a	G	T	4: 123,218,378 (GRCm39)	R214S	possibly damaging	Het
Cacna1f	T	C	X: 7,486,678 (GRCm39)	S890P	probably damaging	Het
Cd96	A	T	16: 45,938,362 (GRCm39)	Y34*	probably null	Het
Cdc42ep4	A	G	11: 113,620,163 (GRCm39)	L76P	probably damaging	Het
Cdh23	A	G	10: 60,227,505 (GRCm39)	V1195A	possibly damaging	Het
Cfap57	G	A	4: 118,428,921 (GRCm39)	T1015M	possibly damaging	Het
Chrm3	C	A	13: 9,927,452 (GRCm39)	G528V	probably damaging	Het
Cimap1c	A	T	9: 56,759,027 (GRCm39)	F43I	possibly damaging	Het
Clip4	T	C	17: 72,108,937 (GRCm39)		probably benign	Het
Col9a1	A	T	1: 24,224,386 (GRCm39)	R189S	unknown	Het
Cul4b	A	T	X: 37,636,728 (GRCm39)	I481N	probably damaging	Het
Cyp26b1	A	G	6: 84,561,441 (GRCm39)	S74P	probably benign	Het
Cyp3a57	A	G	5: 145,307,820 (GRCm39)	N192S	probably benign	Het
Dcbld1	A	G	10: 52,195,572 (GRCm39)	D260G	probably damaging	Het
Dhrs7	T	C	12: 72,699,939 (GRCm39)	N231S	probably benign	Het
Disp3	G	A	4: 148,325,975 (GRCm39)	P1261L	probably damaging	Het
Dnaaf4	T	C	9: 72,867,966 (GRCm39)	Y76H	possibly damaging	Het
Eml5	C	A	12: 98,853,315 (GRCm39)	V95F	probably benign	Het
Emsy	A	G	7: 98,297,087 (GRCm39)	I32T	probably damaging	Het
Esr1	A	G	10: 4,733,913 (GRCm39)	R238G	probably damaging	Het
Exosc1	T	C	19: 41,916,524 (GRCm39)	K84R	probably benign	Het
F830016B08Rik	T	A	18: 60,433,589 (GRCm39)	V224E	probably benign	Het
Fam228a	T	A	12: 4,782,748 (GRCm39)	N115I	probably damaging	Het
Farp1	T	C	14: 121,494,157 (GRCm39)	I546T	probably damaging	Het
Fbxo30	T	A	10: 11,165,531 (GRCm39)	C84*	probably null	Het
Fbxw17	A	G	13: 50,579,810 (GRCm39)		probably benign	Het
Foxo4	G	C	X: 100,302,069 (GRCm39)	R192P	probably benign	Het
Galnt7	G	T	8: 57,995,564 (GRCm39)	T377K	probably benign	Het
Garnl3	T	C	2: 32,924,139 (GRCm39)	I248V	probably benign	Het
Glod4	A	G	11: 76,128,534 (GRCm39)	Y104H	probably damaging	Het
Glrb	T	C	3: 80,767,482 (GRCm39)	Y246C	probably damaging	Het
Gm5292	A	G	5: 44,101,752 (GRCm39)		noncoding transcript	Het
Gm5424	C	A	10: 61,908,086 (GRCm39)		noncoding transcript	Het
Gm7276	C	T	18: 77,273,431 (GRCm39)		probably benign	Het
Golga5	A	G	12: 102,458,390 (GRCm39)	N611S	possibly damaging	Het
Gucy2c	A	C	6: 136,721,025 (GRCm39)	Y391D	probably damaging	Het
H6pd	A	G	4: 150,066,130 (GRCm39)	I760T	probably damaging	Het
Hapln2	T	A	3: 87,931,712 (GRCm39)	I5F	possibly damaging	Het
Hdac11	G	T	6: 91,145,806 (GRCm39)	V169L	probably benign	Het
Hectd2	T	C	19: 36,586,816 (GRCm39)	V557A	possibly damaging	Het
Huwe1	T	A	X: 150,647,749 (GRCm39)	N747K	probably benign	Het
Ints1	A	G	5: 139,760,277 (GRCm39)	S66P	probably benign	Het
Ipo7	A	G	7: 109,626,339 (GRCm39)	D49G	probably damaging	Het
Itgb4	G	A	11: 115,879,346 (GRCm39)	C575Y	probably damaging	Het
Klhl3	A	G	13: 58,181,044 (GRCm39)	V250A	possibly damaging	Het
Klk1b24	A	G	7: 43,839,852 (GRCm39)		probably null	Het
Map3k11	T	A	19: 5,745,600 (GRCm39)	Y333*	probably null	Het
Mbp	A	G	18: 82,572,474 (GRCm39)	T57A	probably benign	Het
Myh9	A	G	15: 77,657,464 (GRCm39)		probably benign	Het
Mypn	C	T	10: 62,961,472 (GRCm39)	R1040Q	probably damaging	Het
Ncdn	A	G	4: 126,645,732 (GRCm39)		probably null	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Or10ab5	T	A	7: 108,245,571 (GRCm39)	T71S	probably benign	Het
Or11h4	AGGGATTGGG	AGGGATTGGGATTGGG	14: 50,974,144 (GRCm39)		probably benign	Het
Or4k15c	A	G	14: 50,321,499 (GRCm39)	F213S	probably benign	Het
Or51b6b	T	C	7: 103,310,005 (GRCm39)		probably null	Het
Or51f1	G	A	7: 102,505,569 (GRCm39)	Q307*	probably null	Het
Or8d2	T	A	9: 38,759,901 (GRCm39)	S164T	possibly damaging	Het
Pbx3	T	C	2: 34,114,464 (GRCm39)	T82A	possibly damaging	Het
Pi15	T	C	1: 17,672,945 (GRCm39)	F48S	probably benign	Het
Pkhd1	A	G	1: 20,655,376 (GRCm39)		probably benign	Het
Ppard	C	G	17: 28,505,348 (GRCm39)	R12G	unknown	Het
Prrc2c	G	T	1: 162,532,551 (GRCm39)		probably benign	Het
Prune1	A	G	3: 95,175,553 (GRCm39)	Y41H	possibly damaging	Het
Rcsd1	T	C	1: 165,483,541 (GRCm39)	D150G	probably damaging	Het
Rgs12	A	T	5: 35,123,456 (GRCm39)	Q413L	possibly damaging	Het
Rhox2h	A	G	X: 36,850,848 (GRCm39)	Y185H	probably damaging	Het
Rnf17	T	A	14: 56,741,464 (GRCm39)	C1306*	probably null	Het
Ros1	T	A	10: 51,976,183 (GRCm39)	M1499L	probably benign	Het
Rubcnl	T	C	14: 75,284,989 (GRCm39)	S503P	probably damaging	Het
Sap18b	A	T	8: 96,552,342 (GRCm39)	R117S	probably benign	Het
Shank2	A	G	7: 143,964,336 (GRCm39)	E858G	probably damaging	Het
Shtn1	T	C	19: 59,020,632 (GRCm39)	R197G	probably damaging	Het
Slamf8	G	A	1: 172,412,087 (GRCm39)	R163*	probably null	Het
Slc6a3	T	C	13: 73,714,411 (GRCm39)	I392T	possibly damaging	Het
Sp140	C	T	1: 85,547,772 (GRCm39)		probably benign	Het
Sp8	T	C	12: 118,812,751 (GRCm39)	V202A	possibly damaging	Het
Spata13	T	C	14: 60,946,908 (GRCm39)	V652A	probably damaging	Het
Stpg2	A	T	3: 139,023,162 (GRCm39)	T393S	probably benign	Het
Tagap	T	C	17: 8,150,299 (GRCm39)	M228T	probably damaging	Het
Tagap	A	G	17: 8,152,377 (GRCm39)	T521A	probably benign	Het
Tas2r123	T	G	6: 132,824,528 (GRCm39)	S142A	probably damaging	Het
Tat	T	A	8: 110,718,261 (GRCm39)	S49T	probably benign	Het
Tfap4	G	T	16: 4,369,933 (GRCm39)	Q41K	possibly damaging	Het
Thbs2	T	C	17: 14,906,075 (GRCm39)	N275S	probably benign	Het
Tnfsf14	T	A	17: 57,497,867 (GRCm39)	R122W	probably damaging	Het
Tnrc6a	T	C	7: 122,792,140 (GRCm39)	V1886A	possibly damaging	Het
Trim56	G	A	5: 137,143,252 (GRCm39)	A88V	probably damaging	Het
Trio	A	G	15: 27,841,842 (GRCm39)	Y1081H	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ube2o	G	A	11: 116,432,320 (GRCm39)	T882I	probably benign	Het
Upk3a	A	G	15: 84,904,815 (GRCm39)	T188A	possibly damaging	Het
Vmn1r79	A	C	7: 11,910,358 (GRCm39)	D80A	probably damaging	Het
Wls	C	A	3: 159,617,450 (GRCm39)	T375K	probably benign	Het
Wnt5a	T	C	14: 28,233,835 (GRCm39)	M1T	probably null	Het
Zcchc4	A	G	5: 52,953,932 (GRCm39)	E204G	probably damaging	Het
Zfp513	G	A	5: 31,357,678 (GRCm39)	P232S	possibly damaging	Het

Other mutations in Bltp3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Bltp3a	APN	17	28,095,891 (GRCm39)	splice site	probably benign
IGL00786:Bltp3a	APN	17	28,098,266 (GRCm39)	missense	probably damaging	0.99
IGL01074:Bltp3a	APN	17	28,098,265 (GRCm39)	missense	possibly damaging	0.94
IGL01780:Bltp3a	APN	17	28,112,474 (GRCm39)	missense	probably damaging	1.00
IGL02668:Bltp3a	APN	17	28,105,549 (GRCm39)	missense	possibly damaging	0.53
IGL02686:Bltp3a	APN	17	28,113,563 (GRCm39)	missense	probably benign
IGL03240:Bltp3a	APN	17	28,112,227 (GRCm39)	missense	probably benign	0.37
hades	UTSW	17	28,113,720 (GRCm39)	missense	probably damaging	1.00
R0167:Bltp3a	UTSW	17	28,099,176 (GRCm39)	missense	possibly damaging	0.46
R0240:Bltp3a	UTSW	17	28,114,844 (GRCm39)	splice site	probably benign
R0332:Bltp3a	UTSW	17	28,112,268 (GRCm39)	critical splice donor site	probably null
R0668:Bltp3a	UTSW	17	28,114,913 (GRCm39)	missense	probably benign	0.16
R0726:Bltp3a	UTSW	17	28,104,463 (GRCm39)	missense	possibly damaging	0.50
R0964:Bltp3a	UTSW	17	28,106,152 (GRCm39)	missense	probably damaging	0.96
R1125:Bltp3a	UTSW	17	28,112,423 (GRCm39)	missense	probably damaging	1.00
R1139:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R1164:Bltp3a	UTSW	17	28,114,354 (GRCm39)	critical splice donor site	probably null
R1192:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R1277:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R1279:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R1340:Bltp3a	UTSW	17	28,113,695 (GRCm39)	missense	probably benign	0.00
R1341:Bltp3a	UTSW	17	28,096,393 (GRCm39)	splice site	probably benign
R1344:Bltp3a	UTSW	17	28,113,551 (GRCm39)	missense	probably benign	0.41
R1418:Bltp3a	UTSW	17	28,113,551 (GRCm39)	missense	probably benign	0.41
R1552:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R1726:Bltp3a	UTSW	17	28,105,225 (GRCm39)	splice site	probably null
R1796:Bltp3a	UTSW	17	28,109,045 (GRCm39)	missense	possibly damaging	0.87
R2858:Bltp3a	UTSW	17	28,104,436 (GRCm39)	missense	probably damaging	0.99
R3034:Bltp3a	UTSW	17	28,113,720 (GRCm39)	missense	probably damaging	1.00
R4111:Bltp3a	UTSW	17	28,105,064 (GRCm39)	nonsense	probably null
R4159:Bltp3a	UTSW	17	28,103,061 (GRCm39)	missense	probably damaging	1.00
R4160:Bltp3a	UTSW	17	28,103,061 (GRCm39)	missense	probably damaging	1.00
R4161:Bltp3a	UTSW	17	28,103,061 (GRCm39)	missense	probably damaging	1.00
R4431:Bltp3a	UTSW	17	28,104,905 (GRCm39)	missense	probably damaging	1.00
R4575:Bltp3a	UTSW	17	28,106,477 (GRCm39)	missense	probably benign	0.02
R4657:Bltp3a	UTSW	17	28,109,079 (GRCm39)	missense	probably benign	0.09
R4666:Bltp3a	UTSW	17	28,112,477 (GRCm39)	missense	possibly damaging	0.95
R4825:Bltp3a	UTSW	17	28,096,368 (GRCm39)	missense	probably damaging	0.98
R4872:Bltp3a	UTSW	17	28,109,110 (GRCm39)	missense	probably benign	0.10
R4956:Bltp3a	UTSW	17	28,108,958 (GRCm39)	splice site	probably null
R4976:Bltp3a	UTSW	17	28,103,000 (GRCm39)	missense	probably damaging	0.99
R4982:Bltp3a	UTSW	17	28,105,580 (GRCm39)	missense	probably benign	0.05
R5017:Bltp3a	UTSW	17	28,113,713 (GRCm39)	nonsense	probably null
R5033:Bltp3a	UTSW	17	28,105,838 (GRCm39)	missense	probably damaging	0.99
R5137:Bltp3a	UTSW	17	28,095,964 (GRCm39)	splice site	probably null
R5159:Bltp3a	UTSW	17	28,100,530 (GRCm39)	missense	probably damaging	0.98
R5177:Bltp3a	UTSW	17	28,103,992 (GRCm39)	missense	possibly damaging	0.94
R5196:Bltp3a	UTSW	17	28,075,737 (GRCm39)	missense	probably benign	0.09
R5214:Bltp3a	UTSW	17	28,106,489 (GRCm39)	missense	probably benign
R5352:Bltp3a	UTSW	17	28,106,489 (GRCm39)	missense	probably benign
R5354:Bltp3a	UTSW	17	28,106,489 (GRCm39)	missense	probably benign
R5425:Bltp3a	UTSW	17	28,106,489 (GRCm39)	missense	probably benign
R5601:Bltp3a	UTSW	17	28,103,468 (GRCm39)	missense	probably damaging	1.00
R6080:Bltp3a	UTSW	17	28,099,271 (GRCm39)	missense	probably benign
R6088:Bltp3a	UTSW	17	28,103,579 (GRCm39)	critical splice donor site	probably null
R6331:Bltp3a	UTSW	17	28,112,175 (GRCm39)	missense	probably benign	0.01
R6529:Bltp3a	UTSW	17	28,098,750 (GRCm39)	missense	possibly damaging	0.90
R6614:Bltp3a	UTSW	17	28,095,899 (GRCm39)	missense	probably benign	0.18
R6701:Bltp3a	UTSW	17	28,106,331 (GRCm39)	nonsense	probably null
R7082:Bltp3a	UTSW	17	28,109,039 (GRCm39)	missense	probably damaging	1.00
R7158:Bltp3a	UTSW	17	28,105,407 (GRCm39)	nonsense	probably null
R8338:Bltp3a	UTSW	17	28,095,669 (GRCm39)	missense	probably damaging	1.00
R8914:Bltp3a	UTSW	17	28,105,887 (GRCm39)	missense	possibly damaging	0.66
R9135:Bltp3a	UTSW	17	28,104,902 (GRCm39)	nonsense	probably null
R9218:Bltp3a	UTSW	17	28,114,529 (GRCm39)	missense	probably benign	0.00
R9421:Bltp3a	UTSW	17	28,095,660 (GRCm39)	missense	probably damaging	1.00
R9495:Bltp3a	UTSW	17	28,112,414 (GRCm39)	missense	probably damaging	1.00
R9514:Bltp3a	UTSW	17	28,112,414 (GRCm39)	missense	probably damaging	1.00
R9621:Bltp3a	UTSW	17	28,105,753 (GRCm39)	missense	probably benign	0.00
R9766:Bltp3a	UTSW	17	28,105,799 (GRCm39)	missense	probably damaging	1.00
RF005:Bltp3a	UTSW	17	28,104,505 (GRCm39)	missense	probably damaging	1.00
X0017:Bltp3a	UTSW	17	28,096,315 (GRCm39)	missense	probably benign	0.03
Z1176:Bltp3a	UTSW	17	28,105,280 (GRCm39)	missense	probably damaging	1.00
Z1176:Bltp3a	UTSW	17	28,095,650 (GRCm39)	missense	probably damaging	1.00
Z1177:Bltp3a	UTSW	17	28,103,940 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- TAGGCGCAGGTTTTCAAGAAC -3'
(R):5'- AGAGCCAGCCATCTTCCTAC -3'

Sequencing Primer
(F):5'- GGTTTTCAAGAACCCTCAAATCTG -3'
(R):5'- TGCACTACCTTCCGGCAG -3'

Posted On

2014-06-23