Mutagenetix > Incidental Mutation

Incidental Mutation 'R9381:Ltbp1'

710068

Institutional Source

Beutler Lab

Gene Symbol

Ltbp1

Ensembl Gene

ENSMUSG00000001870

Gene Name

latent transforming growth factor beta binding protein 1

Synonyms

9430031G15Rik, Ltbp1L, b2b1000Clo, LTBP-1

MMRRC Submission

068992-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9381 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75312563-75699507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75696434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1606 (N1606I)

Ref Sequence

ENSEMBL: ENSMUSP00000001927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001927] [ENSMUST00000112514] [ENSMUST00000112516]

AlphaFold

Q8CG19

Predicted Effect

probably damaging
Transcript: ENSMUST00000001927
AA Change: N1606I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001927
Gene: ENSMUSG00000001870
AA Change: N1606I

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	34	49	N/A	INTRINSIC
low complexity region	58	73	N/A	INTRINSIC
low complexity region	94	109	N/A	INTRINSIC
low complexity region	149	158	N/A	INTRINSIC
EGF	184	213	9.27e-1	SMART
EGF	394	423	2.23e-3	SMART
Pfam:TB	559	601	2.4e-9	PFAM
EGF_CA	618	658	9.39e-11	SMART
Pfam:TB	680	720	1e-18	PFAM
low complexity region	839	849	N/A	INTRINSIC
EGF_CA	865	906	5.83e-7	SMART
EGF_CA	907	948	6.39e-13	SMART
EGF_CA	949	989	4.25e-9	SMART
EGF_CA	990	1029	2.44e-9	SMART
EGF_CA	1030	1070	5.87e-12	SMART
EGF_CA	1071	1111	3.61e-12	SMART
EGF_CA	1112	1152	1.57e-12	SMART
EGF_CA	1153	1193	1.75e-10	SMART
EGF_CA	1194	1235	6.74e-12	SMART
EGF_CA	1236	1277	3.22e-9	SMART
EGF	1281	1320	2.16e1	SMART
Pfam:TB	1349	1391	5.6e-17	PFAM
EGF	1418	1457	1.14e0	SMART
EGF_CA	1458	1498	2.68e-6	SMART
Pfam:TB	1526	1567	4.2e-15	PFAM
EGF	1615	1652	1e-5	SMART
EGF_CA	1653	1697	5.11e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112514
AA Change: N1235I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108133
Gene: ENSMUSG00000001870
AA Change: N1235I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
EGF	76	105	2.23e-3	SMART
Pfam:TB	240	283	9.5e-13	PFAM
EGF_CA	300	340	9.39e-11	SMART
Pfam:TB	361	400	3.1e-17	PFAM
low complexity region	468	478	N/A	INTRINSIC
EGF_CA	494	535	5.83e-7	SMART
EGF_CA	536	577	6.39e-13	SMART
EGF_CA	578	618	4.25e-9	SMART
EGF_CA	619	658	2.44e-9	SMART
EGF_CA	659	699	5.87e-12	SMART
EGF_CA	700	740	3.61e-12	SMART
EGF_CA	741	781	1.57e-12	SMART
EGF_CA	782	822	1.75e-10	SMART
EGF_CA	823	864	6.74e-12	SMART
EGF_CA	865	906	3.22e-9	SMART
EGF	910	949	2.16e1	SMART
Pfam:TB	977	1020	4.3e-20	PFAM
EGF	1047	1086	1.14e0	SMART
EGF_CA	1087	1127	2.68e-6	SMART
Pfam:TB	1154	1196	1.3e-17	PFAM
EGF	1244	1281	1e-5	SMART
EGF_CA	1282	1326	5.11e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112516
AA Change: N1288I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108135
Gene: ENSMUSG00000001870
AA Change: N1288I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
EGF	76	105	2.23e-3	SMART
Pfam:TB	240	283	9.9e-13	PFAM
EGF_CA	300	340	9.39e-11	SMART
Pfam:TB	361	402	7.6e-20	PFAM
low complexity region	521	531	N/A	INTRINSIC
EGF_CA	547	588	5.83e-7	SMART
EGF_CA	589	630	6.39e-13	SMART
EGF_CA	631	671	4.25e-9	SMART
EGF_CA	672	711	2.44e-9	SMART
EGF_CA	712	752	5.87e-12	SMART
EGF_CA	753	793	3.61e-12	SMART
EGF_CA	794	834	1.57e-12	SMART
EGF_CA	835	875	1.75e-10	SMART
EGF_CA	876	917	6.74e-12	SMART
EGF_CA	918	959	3.22e-9	SMART
EGF	963	1002	2.16e1	SMART
Pfam:TB	1030	1073	4.5e-20	PFAM
EGF	1100	1139	1.14e0	SMART
EGF_CA	1140	1180	2.68e-6	SMART
Pfam:TB	1207	1249	1.4e-17	PFAM
EGF	1297	1334	1e-5	SMART
EGF_CA	1335	1379	5.11e-12	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality associated with defects in the aortic arch and outflow tract. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
9930111J21Rik1	T	A	11: 48,839,204 (GRCm39)	K461M	probably damaging	Het
Abhd16b	A	G	2: 181,135,881 (GRCm39)	Y261C	probably damaging	Het
Acadl	T	C	1: 66,893,805 (GRCm39)	T117A	probably benign	Het
Adamts15	A	G	9: 30,813,816 (GRCm39)	V783A	probably damaging	Het
Aff1	A	T	5: 103,981,733 (GRCm39)	Q624L	possibly damaging	Het
Afg3l2	T	G	18: 67,575,451 (GRCm39)	E74A	probably damaging	Het
Aig1	T	C	10: 13,523,417 (GRCm39)	E238G	probably benign	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Anks1	A	T	17: 28,272,979 (GRCm39)	Y958F	probably damaging	Het
Arhgef28	C	A	13: 98,036,269 (GRCm39)	Q1663H	possibly damaging	Het
Asb3	T	C	11: 31,051,088 (GRCm39)	L475P	probably damaging	Het
Atg9a	T	A	1: 75,162,726 (GRCm39)	M430L	probably benign	Het
Bco1	T	A	8: 117,837,631 (GRCm39)	V164E	probably benign	Het
Bhlhe40	T	C	6: 108,642,244 (GRCm39)	L396P	probably damaging	Het
C5ar2	A	T	7: 15,970,887 (GRCm39)	S347T	probably damaging	Het
Cdc42bpa	T	C	1: 179,969,048 (GRCm39)	S1212P	probably damaging	Het
Ceacam3	C	G	7: 16,893,715 (GRCm39)	Q409E		Het
Ces3b	T	C	8: 105,811,670 (GRCm39)	V62A	probably benign	Het
Dalrd3	A	G	9: 108,448,242 (GRCm39)		probably null	Het
Ddhd2	G	T	8: 26,239,849 (GRCm39)	A288E	probably benign	Het
Dnah17	T	A	11: 117,914,219 (GRCm39)	M4435L	probably benign	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
E030025P04Rik	A	G	11: 109,030,384 (GRCm39)	Y168H	unknown	Het
Elavl2	T	C	4: 91,197,009 (GRCm39)	N23S	probably benign	Het
Elfn1	T	C	5: 139,959,462 (GRCm39)	V822A	probably damaging	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Exoc5	C	T	14: 49,275,194 (GRCm39)	S202N	probably benign	Het
Fryl	T	C	5: 73,240,637 (GRCm39)	D1321G	probably benign	Het
Gm12258	C	T	11: 58,750,007 (GRCm39)	T394I	unknown	Het
Gm28363	T	A	1: 117,654,615 (GRCm39)	S85T	probably damaging	Het
H2-Q1	A	G	17: 35,542,138 (GRCm39)	T237A	probably damaging	Het
Hectd4	A	T	5: 121,472,492 (GRCm39)	I2743F	possibly damaging	Het
Hs3st3b1	C	T	11: 63,812,692 (GRCm39)	G8S	probably benign	Het
Ighv1-16	T	C	12: 114,629,598 (GRCm39)	N63S	probably benign	Het
Il20rb	A	G	9: 100,343,541 (GRCm39)	F238L	possibly damaging	Het
Il31ra	A	T	13: 112,668,253 (GRCm39)	F439I	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kat2a	T	C	11: 100,602,692 (GRCm39)	Q132R	possibly damaging	Het
Kcnq2	A	G	2: 180,751,562 (GRCm39)	I278T	probably damaging	Het
Lama1	T	C	17: 68,044,479 (GRCm39)	V126A		Het
Lama2	T	A	10: 27,064,023 (GRCm39)	R1285*	probably null	Het
Larp1	A	G	11: 57,949,532 (GRCm39)	T1054A	probably benign	Het
Lrp1	A	T	10: 127,441,337 (GRCm39)	M262K	probably benign	Het
Lrrd1	A	G	5: 3,901,074 (GRCm39)	I460V	probably benign	Het
Mdga2	T	C	12: 66,597,304 (GRCm39)	N730S	possibly damaging	Het
Mpzl1	T	C	1: 165,429,323 (GRCm39)	H236R	probably damaging	Het
Mrps31	G	A	8: 22,904,752 (GRCm39)	R47K	probably damaging	Het
Nae1	A	T	8: 105,250,239 (GRCm39)	I218K	probably benign	Het
Npy2r	T	C	3: 82,448,356 (GRCm39)	T140A	probably damaging	Het
Nr2e1	T	A	10: 42,439,468 (GRCm39)	L350F	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or51d1	A	T	7: 102,347,654 (GRCm39)	M70L	probably damaging	Het
Or5b124	G	T	19: 13,610,647 (GRCm39)	M57I	probably damaging	Het
Or5p50	A	C	7: 107,421,812 (GRCm39)	L288W	probably damaging	Het
Pabpc1l	G	T	2: 163,867,423 (GRCm39)	C8F	probably benign	Het
Pafah1b3	A	C	7: 24,994,699 (GRCm39)	F172V	probably benign	Het
Pcdhga6	A	T	18: 37,841,371 (GRCm39)	T364S	probably damaging	Het
Ppp3cc	T	A	14: 70,462,441 (GRCm39)	M399L	probably benign	Het
Prpsap2	T	C	11: 61,635,782 (GRCm39)	I173V	probably benign	Het
Rabggtb	A	T	3: 153,613,817 (GRCm39)	W252R	probably damaging	Het
Raph1	A	G	1: 60,540,959 (GRCm39)	F351L	unknown	Het
Rasd2	T	C	8: 75,948,589 (GRCm39)	S172P	probably damaging	Het
Rbm15	T	C	3: 107,238,752 (GRCm39)	T549A	probably benign	Het
Reln	A	G	5: 22,549,202 (GRCm39)	Y69H	possibly damaging	Het
Samd3	T	A	10: 26,147,643 (GRCm39)	N439K	probably benign	Het
Scap	C	A	9: 110,207,839 (GRCm39)	A516D	probably damaging	Het
Selplg	T	C	5: 113,957,917 (GRCm39)	T130A	probably benign	Het
Slc12a7	A	G	13: 73,949,063 (GRCm39)	M697V	probably benign	Het
Slc22a29	A	G	19: 8,195,841 (GRCm39)	I66T	probably benign	Het
Slco1a7	T	C	6: 141,711,490 (GRCm39)	I74V	probably benign	Het
Snrnp48	A	C	13: 38,404,667 (GRCm39)	I241L	probably damaging	Het
Sptb	C	T	12: 76,634,292 (GRCm39)	E2140K	probably benign	Het
Strip2	T	C	6: 29,927,333 (GRCm39)	S192P	probably benign	Het
Svil	A	T	18: 5,099,013 (GRCm39)	R1643S	probably benign	Het
Tbc1d2b	A	G	9: 90,101,139 (GRCm39)	V617A	possibly damaging	Het
Tmem102	T	C	11: 69,695,141 (GRCm39)	E277G	probably benign	Het
Tmtc4	T	G	14: 123,163,441 (GRCm39)	I648L	probably benign	Het
Togaram1	T	C	12: 65,014,204 (GRCm39)	V485A	probably damaging	Het
Trim43b	T	C	9: 88,969,642 (GRCm39)	I269V	probably benign	Het
Trpm2	T	A	10: 77,747,191 (GRCm39)	I1436F	possibly damaging	Het
Ube2d3	A	T	3: 135,168,722 (GRCm39)	I106F	possibly damaging	Het
Vdr	G	A	15: 97,755,333 (GRCm39)	R397C	probably damaging	Het
Vps50	T	C	6: 3,592,433 (GRCm39)	S689P	probably benign	Het
Wipf2	A	G	11: 98,787,068 (GRCm39)	T366A	probably damaging	Het
Zfp128	T	C	7: 12,624,897 (GRCm39)	Y422H	possibly damaging	Het
Zfyve28	G	A	5: 34,373,932 (GRCm39)	T694I	probably benign	Het

Other mutations in Ltbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Ltbp1	APN	17	75,532,333 (GRCm39)	missense	probably damaging	1.00
IGL00156:Ltbp1	APN	17	75,692,155 (GRCm39)	missense	probably damaging	0.97
IGL00161:Ltbp1	APN	17	75,617,147 (GRCm39)	splice site	probably benign
IGL00771:Ltbp1	APN	17	75,669,511 (GRCm39)	missense	probably damaging	1.00
IGL00822:Ltbp1	APN	17	75,458,316 (GRCm39)	missense	probably damaging	1.00
IGL01760:Ltbp1	APN	17	75,534,145 (GRCm39)	missense	probably damaging	0.97
IGL01796:Ltbp1	APN	17	75,534,240 (GRCm39)	splice site	probably benign
IGL01826:Ltbp1	APN	17	75,599,835 (GRCm39)	missense	possibly damaging	0.67
IGL02372:Ltbp1	APN	17	75,559,401 (GRCm39)	missense	probably damaging	0.99
IGL02792:Ltbp1	APN	17	75,589,989 (GRCm39)	missense	probably damaging	1.00
IGL02862:Ltbp1	APN	17	75,697,466 (GRCm39)	missense	probably damaging	1.00
IGL03095:Ltbp1	APN	17	75,589,413 (GRCm39)	missense	possibly damaging	0.67
IGL03345:Ltbp1	APN	17	75,373,154 (GRCm39)	missense	probably damaging	0.99
IGL03404:Ltbp1	APN	17	75,532,301 (GRCm39)	missense	probably damaging	0.97
Hiphop	UTSW	17	75,666,452 (GRCm39)	missense	probably damaging	0.99
Pygea	UTSW	17	75,634,223 (GRCm39)	nonsense	probably null
Twist	UTSW	17	75,617,217 (GRCm39)	missense	probably damaging	0.99
R0010:Ltbp1	UTSW	17	75,670,386 (GRCm39)	missense	probably damaging	1.00
R0010:Ltbp1	UTSW	17	75,670,386 (GRCm39)	missense	probably damaging	1.00
R0022:Ltbp1	UTSW	17	75,671,355 (GRCm39)	missense	probably damaging	1.00
R0022:Ltbp1	UTSW	17	75,671,355 (GRCm39)	missense	probably damaging	1.00
R0033:Ltbp1	UTSW	17	75,583,504 (GRCm39)	missense	possibly damaging	0.66
R0033:Ltbp1	UTSW	17	75,583,504 (GRCm39)	missense	possibly damaging	0.66
R0034:Ltbp1	UTSW	17	75,354,563 (GRCm39)	intron	probably benign
R0068:Ltbp1	UTSW	17	75,666,404 (GRCm39)	missense	probably damaging	1.00
R0068:Ltbp1	UTSW	17	75,666,404 (GRCm39)	missense	probably damaging	1.00
R0467:Ltbp1	UTSW	17	75,589,424 (GRCm39)	critical splice donor site	probably null
R0554:Ltbp1	UTSW	17	75,532,274 (GRCm39)	missense	probably damaging	0.99
R0584:Ltbp1	UTSW	17	75,670,467 (GRCm39)	missense	probably damaging	1.00
R0863:Ltbp1	UTSW	17	75,559,381 (GRCm39)	missense	probably damaging	1.00
R0991:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1084:Ltbp1	UTSW	17	75,666,420 (GRCm39)	nonsense	probably null
R1114:Ltbp1	UTSW	17	75,667,770 (GRCm39)	missense	probably benign
R1177:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1179:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1195:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1195:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1195:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1245:Ltbp1	UTSW	17	75,634,189 (GRCm39)	splice site	probably benign
R1246:Ltbp1	UTSW	17	75,692,156 (GRCm39)	nonsense	probably null
R1258:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1259:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1260:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1262:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1265:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1267:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1269:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1272:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1411:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1579:Ltbp1	UTSW	17	75,559,362 (GRCm39)	missense	probably benign	0.00
R1694:Ltbp1	UTSW	17	75,532,280 (GRCm39)	missense	possibly damaging	0.75
R1705:Ltbp1	UTSW	17	75,692,196 (GRCm39)	splice site	probably null
R1716:Ltbp1	UTSW	17	75,622,019 (GRCm39)	missense	probably benign	0.08
R1815:Ltbp1	UTSW	17	75,559,375 (GRCm39)	missense	probably benign	0.00
R1932:Ltbp1	UTSW	17	75,620,029 (GRCm39)	missense	probably benign	0.01
R1951:Ltbp1	UTSW	17	75,458,372 (GRCm39)	missense	probably benign	0.00
R2044:Ltbp1	UTSW	17	75,583,427 (GRCm39)	missense	probably damaging	1.00
R2118:Ltbp1	UTSW	17	75,617,154 (GRCm39)	missense	possibly damaging	0.52
R2120:Ltbp1	UTSW	17	75,617,154 (GRCm39)	missense	possibly damaging	0.52
R2121:Ltbp1	UTSW	17	75,617,154 (GRCm39)	missense	possibly damaging	0.52
R2122:Ltbp1	UTSW	17	75,617,154 (GRCm39)	missense	possibly damaging	0.52
R2171:Ltbp1	UTSW	17	75,598,312 (GRCm39)	missense	probably damaging	0.99
R2237:Ltbp1	UTSW	17	75,617,158 (GRCm39)	missense	probably benign	0.31
R2655:Ltbp1	UTSW	17	75,312,978 (GRCm39)	missense	possibly damaging	0.76
R2941:Ltbp1	UTSW	17	75,486,088 (GRCm39)	missense	probably damaging	1.00
R3177:Ltbp1	UTSW	17	75,666,273 (GRCm39)	splice site	probably null
R3177:Ltbp1	UTSW	17	75,583,475 (GRCm39)	missense	possibly damaging	0.65
R3277:Ltbp1	UTSW	17	75,666,273 (GRCm39)	splice site	probably null
R3277:Ltbp1	UTSW	17	75,583,475 (GRCm39)	missense	possibly damaging	0.65
R3797:Ltbp1	UTSW	17	75,669,625 (GRCm39)	missense	probably damaging	1.00
R3861:Ltbp1	UTSW	17	75,666,333 (GRCm39)	missense	possibly damaging	0.93
R3897:Ltbp1	UTSW	17	75,581,011 (GRCm39)	missense	probably damaging	1.00
R4002:Ltbp1	UTSW	17	75,617,154 (GRCm39)	missense	probably benign	0.09
R4057:Ltbp1	UTSW	17	75,617,189 (GRCm39)	missense	probably damaging	1.00
R4261:Ltbp1	UTSW	17	75,598,362 (GRCm39)	nonsense	probably null
R4375:Ltbp1	UTSW	17	75,619,992 (GRCm39)	missense	probably damaging	1.00
R4458:Ltbp1	UTSW	17	75,583,502 (GRCm39)	missense	possibly damaging	0.96
R4519:Ltbp1	UTSW	17	75,671,492 (GRCm39)	missense	probably benign	0.14
R4529:Ltbp1	UTSW	17	75,458,355 (GRCm39)	missense	probably benign	0.21
R4614:Ltbp1	UTSW	17	75,596,989 (GRCm39)	intron	probably benign
R4724:Ltbp1	UTSW	17	75,620,003 (GRCm39)	missense	probably damaging	0.99
R4756:Ltbp1	UTSW	17	75,532,199 (GRCm39)	missense	probably damaging	1.00
R4907:Ltbp1	UTSW	17	75,312,899 (GRCm39)	missense	probably benign
R4910:Ltbp1	UTSW	17	75,634,287 (GRCm39)	missense	probably damaging	1.00
R4976:Ltbp1	UTSW	17	75,628,090 (GRCm39)	critical splice donor site	probably null
R5011:Ltbp1	UTSW	17	75,373,152 (GRCm39)	missense	probably damaging	0.99
R5047:Ltbp1	UTSW	17	75,599,881 (GRCm39)	splice site	probably benign
R5259:Ltbp1	UTSW	17	75,670,357 (GRCm39)	missense	probably benign	0.03
R5438:Ltbp1	UTSW	17	75,598,321 (GRCm39)	missense	probably damaging	0.98
R5583:Ltbp1	UTSW	17	75,598,325 (GRCm39)	missense	probably benign	0.00
R5757:Ltbp1	UTSW	17	75,580,944 (GRCm39)	splice site	probably null
R5950:Ltbp1	UTSW	17	75,580,865 (GRCm39)	missense	probably damaging	1.00
R5976:Ltbp1	UTSW	17	75,597,078 (GRCm39)	missense	probably damaging	1.00
R6267:Ltbp1	UTSW	17	75,312,984 (GRCm39)	missense	possibly damaging	0.70
R6383:Ltbp1	UTSW	17	75,666,452 (GRCm39)	missense	probably damaging	0.99
R6400:Ltbp1	UTSW	17	75,458,397 (GRCm39)	missense	possibly damaging	0.62
R6861:Ltbp1	UTSW	17	75,534,187 (GRCm39)	missense	possibly damaging	0.76
R6880:Ltbp1	UTSW	17	75,628,044 (GRCm39)	missense	possibly damaging	0.77
R7168:Ltbp1	UTSW	17	75,598,361 (GRCm39)	missense	probably damaging	1.00
R7198:Ltbp1	UTSW	17	75,533,962 (GRCm39)	missense	possibly damaging	0.94
R7260:Ltbp1	UTSW	17	75,373,139 (GRCm39)	missense	probably benign	0.01
R7262:Ltbp1	UTSW	17	75,671,363 (GRCm39)	missense	probably damaging	1.00
R7340:Ltbp1	UTSW	17	75,634,223 (GRCm39)	nonsense	probably null
R7443:Ltbp1	UTSW	17	75,671,432 (GRCm39)	missense	probably damaging	1.00
R7510:Ltbp1	UTSW	17	75,659,712 (GRCm39)	missense	probably damaging	1.00
R7676:Ltbp1	UTSW	17	75,598,292 (GRCm39)	missense	possibly damaging	0.58
R7717:Ltbp1	UTSW	17	75,597,073 (GRCm39)	missense	possibly damaging	0.90
R7720:Ltbp1	UTSW	17	75,692,119 (GRCm39)	missense	probably damaging	1.00
R7799:Ltbp1	UTSW	17	75,559,351 (GRCm39)	missense	probably damaging	0.99
R7944:Ltbp1	UTSW	17	75,697,546 (GRCm39)	makesense	probably null
R7945:Ltbp1	UTSW	17	75,697,546 (GRCm39)	makesense	probably null
R7976:Ltbp1	UTSW	17	75,670,358 (GRCm39)	missense	possibly damaging	0.94
R8256:Ltbp1	UTSW	17	75,622,236 (GRCm39)	intron	probably benign
R8295:Ltbp1	UTSW	17	75,486,184 (GRCm39)	missense	probably benign	0.10
R8423:Ltbp1	UTSW	17	75,599,852 (GRCm39)	missense	probably benign
R8462:Ltbp1	UTSW	17	75,620,069 (GRCm39)	missense	probably damaging	1.00
R8677:Ltbp1	UTSW	17	75,655,753 (GRCm39)	missense	probably benign	0.00
R8742:Ltbp1	UTSW	17	75,617,217 (GRCm39)	missense	probably damaging	0.99
R8766:Ltbp1	UTSW	17	75,603,250 (GRCm39)	nonsense	probably null
R8873:Ltbp1	UTSW	17	75,486,172 (GRCm39)	missense	probably damaging	1.00
R8887:Ltbp1	UTSW	17	75,486,077 (GRCm39)	missense	probably damaging	1.00
R9100:Ltbp1	UTSW	17	75,622,103 (GRCm39)	missense	probably damaging	0.96
R9100:Ltbp1	UTSW	17	75,622,102 (GRCm39)	missense	probably benign	0.10
R9141:Ltbp1	UTSW	17	75,598,309 (GRCm39)	missense	possibly damaging	0.56
R9204:Ltbp1	UTSW	17	75,670,425 (GRCm39)	missense	probably damaging	1.00
R9292:Ltbp1	UTSW	17	75,583,436 (GRCm39)	missense	probably damaging	0.99
R9423:Ltbp1	UTSW	17	75,597,112 (GRCm39)	missense	probably benign
R9426:Ltbp1	UTSW	17	75,598,309 (GRCm39)	missense	possibly damaging	0.56
R9448:Ltbp1	UTSW	17	75,666,455 (GRCm39)	nonsense	probably null
R9519:Ltbp1	UTSW	17	75,692,190 (GRCm39)	missense	probably damaging	1.00
R9523:Ltbp1	UTSW	17	75,697,498 (GRCm39)	missense	probably benign	0.29
R9625:Ltbp1	UTSW	17	75,486,157 (GRCm39)	missense	probably damaging	1.00
R9671:Ltbp1	UTSW	17	75,603,217 (GRCm39)	critical splice acceptor site	probably null
X0001:Ltbp1	UTSW	17	75,534,173 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- CGTTTTATGCTTAGCACCGAGTAC -3'
(R):5'- ATACTCAGCTGACCAGAGCC -3'

Sequencing Primer
(F):5'- TGCTTAGCACCGAGTACAGGTATAC -3'
(R):5'- CACCAGGGAAAGTGTCTCTTAACG -3'

Posted On

2022-04-18