Mutagenetix > Incidental Mutation

Incidental Mutation 'R0359:Col6a4'

30005

Institutional Source

Beutler Lab

Gene Symbol

Col6a4

Ensembl Gene

ENSMUSG00000032572

Gene Name

collagen, type VI, alpha 4

Synonyms

Vwa6, EG235580, 1110001D15Rik, Dvwa

MMRRC Submission

038565-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0359 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105866653-105973982 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105874345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 2214 (H2214L)

Ref Sequence

ENSEMBL: ENSMUSP00000112472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121963]

AlphaFold

A2AX52

Predicted Effect

probably benign
Transcript: ENSMUST00000121963
AA Change: H2214L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: H2214L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
VWA	32	211	2.44e-35	SMART
VWA	233	410	8.67e-50	SMART
VWA	428	604	2.74e-29	SMART
VWA	632	816	4.78e-20	SMART
VWA	847	1019	3.02e-40	SMART
VWA	1028	1204	3.17e-43	SMART
VWA	1210	1391	4.73e-1	SMART
low complexity region	1444	1462	N/A	INTRINSIC
PDB:3HR2\|B	1469	1593	3e-7	PDB
low complexity region	1594	1622	N/A	INTRINSIC
low complexity region	1625	1643	N/A	INTRINSIC
low complexity region	1649	1671	N/A	INTRINSIC
Pfam:Collagen	1684	1748	1.4e-9	PFAM
VWA	1774	1953	2.18e-14	SMART
VWA	1980	2174	1.89e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149207

Predicted Effect

probably benign
Transcript: ENSMUST00000218471

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
2310003L06Rik	A	T	5: 88,112,455 (GRCm39)		probably benign	Het
Abcb5	A	G	12: 118,904,067 (GRCm39)	S213P	probably damaging	Het
Agpat1	A	G	17: 34,829,551 (GRCm39)	I42V	probably benign	Het
Apoh	A	T	11: 108,288,199 (GRCm39)	I106F	probably damaging	Het
BB014433	G	T	8: 15,092,540 (GRCm39)	C104*	probably null	Het
Bsn	C	T	9: 107,989,045 (GRCm39)	G2236S	possibly damaging	Het
Casp9	A	G	4: 141,521,221 (GRCm39)	E19G	probably damaging	Het
Ces1g	T	C	8: 94,055,163 (GRCm39)		probably benign	Het
Cfap65	T	A	1: 74,959,760 (GRCm39)	M797L	probably benign	Het
Col14a1	A	G	15: 55,271,264 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col27a1	G	T	4: 63,232,964 (GRCm39)		probably null	Het
Ctu2	T	G	8: 123,204,932 (GRCm39)	S72R	probably damaging	Het
Cyp24a1	T	A	2: 170,333,619 (GRCm39)	M245L	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Diaph3	T	C	14: 87,206,938 (GRCm39)	R501G	probably benign	Het
Dip2b	A	G	15: 100,109,874 (GRCm39)	D1453G	probably damaging	Het
Dnah2	G	A	11: 69,420,357 (GRCm39)	T119M	probably benign	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Farp1	A	T	14: 121,492,808 (GRCm39)		probably benign	Het
Fcsk	T	C	8: 111,619,891 (GRCm39)		probably null	Het
Foxf1	T	C	8: 121,811,742 (GRCm39)	V202A	possibly damaging	Het
Fras1	G	A	5: 96,910,449 (GRCm39)	V3293I	probably damaging	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Gclm	T	C	3: 122,049,269 (GRCm39)		probably benign	Het
Gemin4	G	A	11: 76,102,988 (GRCm39)	T591M	probably benign	Het
Glrx3	T	C	7: 137,055,214 (GRCm39)	S119P	possibly damaging	Het
Gm16485	G	T	9: 8,972,437 (GRCm39)		probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hs6st1	G	A	1: 36,108,266 (GRCm39)		probably null	Het
Kpna2	A	G	11: 106,882,148 (GRCm39)	L226S	probably damaging	Het
Myom3	G	A	4: 135,505,454 (GRCm39)	V448M	probably damaging	Het
Nalcn	A	G	14: 123,536,580 (GRCm39)	S1224P	probably damaging	Het
Or52n2	A	T	7: 104,542,521 (GRCm39)	F105I	probably damaging	Het
Or56b1b	C	T	7: 108,164,721 (GRCm39)	D94N	probably benign	Het
Or7a38	A	G	10: 78,753,177 (GRCm39)	T168A	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pot1a	G	A	6: 25,771,679 (GRCm39)		probably benign	Het
Ppfia1	T	C	7: 144,038,929 (GRCm39)	D494G	probably damaging	Het
Ppp1r1a	T	A	15: 103,441,915 (GRCm39)	D51V	probably damaging	Het
Ptprz1	T	A	6: 22,973,175 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,911,704 (GRCm39)	V61D	probably damaging	Het
Reln	G	A	5: 22,253,798 (GRCm39)	L605F	probably damaging	Het
Riok3	T	C	18: 12,282,006 (GRCm39)	I325T	probably damaging	Het
Sclt1	A	T	3: 41,616,005 (GRCm39)		probably null	Het
Slc25a39	A	G	11: 102,297,395 (GRCm39)	V24A	possibly damaging	Het
Slc9a3	T	G	13: 74,305,726 (GRCm39)	S248A	probably damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Spen	T	C	4: 141,244,181 (GRCm39)	S285G	unknown	Het
Stxbp5l	A	G	16: 37,036,440 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,352,030 (GRCm39)	P1055L	probably damaging	Het
Tmed3	C	T	9: 89,581,842 (GRCm39)	S207N	possibly damaging	Het
Trerf1	G	T	17: 47,652,062 (GRCm39)		noncoding transcript	Het
Triml1	A	T	8: 43,583,542 (GRCm39)	V353E	probably damaging	Het
Ttn	G	A	2: 76,549,401 (GRCm39)	R31759C	probably damaging	Het
Ugt2b37	T	C	5: 87,398,443 (GRCm39)	Q331R	probably benign	Het
Urb1	A	G	16: 90,588,048 (GRCm39)	I420T	probably damaging	Het
Vmn1r68	A	T	7: 10,261,201 (GRCm39)	L299Q	probably damaging	Het
Vmn1r81	T	A	7: 11,993,877 (GRCm39)	T244S	probably damaging	Het
Vps13a	A	G	19: 16,618,941 (GRCm39)	F2875S	probably damaging	Het
Wscd1	A	G	11: 71,657,692 (GRCm39)	M166V	probably damaging	Het
Zfp296	T	C	7: 19,313,864 (GRCm39)	Y240H	possibly damaging	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably damaging	Het

Other mutations in Col6a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Col6a4	APN	9	105,900,095 (GRCm39)	missense	probably benign	0.00
IGL00691:Col6a4	APN	9	105,934,606 (GRCm39)	missense	probably damaging	1.00
IGL01508:Col6a4	APN	9	105,890,804 (GRCm39)	missense	possibly damaging	0.95
IGL01580:Col6a4	APN	9	105,945,397 (GRCm39)	missense	probably damaging	1.00
IGL01610:Col6a4	APN	9	105,924,906 (GRCm39)	splice site	probably benign
IGL01813:Col6a4	APN	9	105,954,452 (GRCm39)	missense	probably damaging	1.00
IGL01933:Col6a4	APN	9	105,937,313 (GRCm39)	missense	probably benign	0.04
IGL01973:Col6a4	APN	9	105,940,093 (GRCm39)	missense	probably damaging	1.00
IGL02053:Col6a4	APN	9	105,940,294 (GRCm39)	missense	possibly damaging	0.92
IGL02063:Col6a4	APN	9	105,934,617 (GRCm39)	missense	probably benign	0.01
IGL02065:Col6a4	APN	9	105,954,302 (GRCm39)	missense	probably damaging	0.99
IGL02106:Col6a4	APN	9	105,940,304 (GRCm39)	missense	possibly damaging	0.95
IGL02220:Col6a4	APN	9	105,940,141 (GRCm39)	missense	possibly damaging	0.91
IGL02228:Col6a4	APN	9	105,945,277 (GRCm39)	missense	probably benign
IGL02234:Col6a4	APN	9	105,890,631 (GRCm39)	missense	possibly damaging	0.92
IGL02294:Col6a4	APN	9	105,943,931 (GRCm39)	missense	probably benign	0.04
IGL02314:Col6a4	APN	9	105,874,355 (GRCm39)	missense	probably damaging	0.99
IGL03065:Col6a4	APN	9	105,918,363 (GRCm39)	splice site	probably benign
IGL03086:Col6a4	APN	9	105,960,061 (GRCm39)	splice site	probably benign
IGL03185:Col6a4	APN	9	105,896,653 (GRCm39)	missense	probably damaging	0.97
R0092:Col6a4	UTSW	9	105,890,513 (GRCm39)	missense	probably benign	0.04
R0095:Col6a4	UTSW	9	105,952,555 (GRCm39)	missense	probably benign	0.03
R0230:Col6a4	UTSW	9	105,949,565 (GRCm39)	missense	probably benign	0.11
R0415:Col6a4	UTSW	9	105,952,279 (GRCm39)	missense	probably damaging	0.99
R0433:Col6a4	UTSW	9	105,945,193 (GRCm39)	missense	probably damaging	0.99
R0450:Col6a4	UTSW	9	105,957,746 (GRCm39)	missense	probably damaging	1.00
R0469:Col6a4	UTSW	9	105,957,746 (GRCm39)	missense	probably damaging	1.00
R0490:Col6a4	UTSW	9	105,890,969 (GRCm39)	missense	probably damaging	0.99
R0621:Col6a4	UTSW	9	105,943,990 (GRCm39)	missense	probably damaging	0.97
R0667:Col6a4	UTSW	9	105,907,158 (GRCm39)	splice site	probably benign
R0681:Col6a4	UTSW	9	105,944,343 (GRCm39)	nonsense	probably null
R0690:Col6a4	UTSW	9	105,905,386 (GRCm39)	splice site	probably benign
R0714:Col6a4	UTSW	9	105,895,102 (GRCm39)	unclassified	probably benign
R0788:Col6a4	UTSW	9	105,949,197 (GRCm39)	missense	probably benign	0.15
R1036:Col6a4	UTSW	9	105,945,397 (GRCm39)	missense	probably damaging	1.00
R1296:Col6a4	UTSW	9	105,940,052 (GRCm39)	missense	possibly damaging	0.47
R1386:Col6a4	UTSW	9	105,940,144 (GRCm39)	missense	probably benign	0.15
R1484:Col6a4	UTSW	9	105,890,501 (GRCm39)	critical splice donor site	probably null
R1528:Col6a4	UTSW	9	105,952,419 (GRCm39)	missense	probably damaging	0.99
R1555:Col6a4	UTSW	9	105,878,085 (GRCm39)	missense	possibly damaging	0.93
R1622:Col6a4	UTSW	9	105,874,334 (GRCm39)	missense	probably benign	0.01
R1653:Col6a4	UTSW	9	105,949,608 (GRCm39)	missense	probably damaging	0.99
R1720:Col6a4	UTSW	9	105,903,671 (GRCm39)	missense	probably damaging	1.00
R1768:Col6a4	UTSW	9	105,957,299 (GRCm39)	missense	probably benign
R1941:Col6a4	UTSW	9	105,952,209 (GRCm39)	missense	probably benign	0.00
R2092:Col6a4	UTSW	9	105,937,530 (GRCm39)	missense	probably damaging	1.00
R2134:Col6a4	UTSW	9	105,943,860 (GRCm39)	missense	probably benign	0.09
R2149:Col6a4	UTSW	9	105,954,128 (GRCm39)	missense	probably benign	0.00
R2174:Col6a4	UTSW	9	105,937,331 (GRCm39)	missense	probably damaging	0.98
R2204:Col6a4	UTSW	9	105,937,331 (GRCm39)	missense	probably damaging	0.98
R2248:Col6a4	UTSW	9	105,957,158 (GRCm39)	missense	probably benign	0.15
R2568:Col6a4	UTSW	9	105,940,275 (GRCm39)	missense	possibly damaging	0.90
R3750:Col6a4	UTSW	9	105,897,864 (GRCm39)	critical splice acceptor site	probably null
R3751:Col6a4	UTSW	9	105,949,313 (GRCm39)	missense	probably damaging	0.98
R3776:Col6a4	UTSW	9	105,928,900 (GRCm39)	nonsense	probably null
R3872:Col6a4	UTSW	9	105,890,858 (GRCm39)	missense	possibly damaging	0.95
R4043:Col6a4	UTSW	9	105,949,610 (GRCm39)	nonsense	probably null
R4056:Col6a4	UTSW	9	105,903,665 (GRCm39)	missense	probably damaging	0.98
R4212:Col6a4	UTSW	9	105,952,569 (GRCm39)	missense	probably benign	0.28
R4417:Col6a4	UTSW	9	105,949,215 (GRCm39)	missense	probably damaging	0.99
R4683:Col6a4	UTSW	9	105,957,329 (GRCm39)	missense	probably benign	0.00
R4719:Col6a4	UTSW	9	105,945,451 (GRCm39)	missense	probably damaging	0.99
R4791:Col6a4	UTSW	9	105,957,401 (GRCm39)	missense	possibly damaging	0.68
R4833:Col6a4	UTSW	9	105,949,178 (GRCm39)	missense	probably benign	0.00
R4886:Col6a4	UTSW	9	105,937,271 (GRCm39)	missense	probably benign	0.00
R4998:Col6a4	UTSW	9	105,867,977 (GRCm39)	utr 3 prime	probably benign
R5091:Col6a4	UTSW	9	105,952,262 (GRCm39)	missense	probably damaging	1.00
R5113:Col6a4	UTSW	9	105,944,159 (GRCm39)	missense	possibly damaging	0.89
R5129:Col6a4	UTSW	9	105,890,576 (GRCm39)	missense	probably damaging	0.98
R5231:Col6a4	UTSW	9	105,902,730 (GRCm39)	missense	probably damaging	0.96
R5297:Col6a4	UTSW	9	105,952,066 (GRCm39)	missense	probably benign	0.02
R5352:Col6a4	UTSW	9	105,938,743 (GRCm39)	missense	probably damaging	1.00
R5438:Col6a4	UTSW	9	105,890,895 (GRCm39)	missense	possibly damaging	0.95
R5518:Col6a4	UTSW	9	105,949,387 (GRCm39)	missense	possibly damaging	0.68
R5657:Col6a4	UTSW	9	105,949,397 (GRCm39)	missense	probably damaging	0.99
R5660:Col6a4	UTSW	9	105,873,315 (GRCm39)	missense	probably benign	0.01
R5662:Col6a4	UTSW	9	105,945,200 (GRCm39)	missense	probably damaging	0.99
R5777:Col6a4	UTSW	9	105,890,895 (GRCm39)	missense	possibly damaging	0.95
R5800:Col6a4	UTSW	9	105,957,474 (GRCm39)	missense	probably damaging	0.99
R5929:Col6a4	UTSW	9	105,940,243 (GRCm39)	missense	probably benign	0.15
R5999:Col6a4	UTSW	9	105,945,120 (GRCm39)	missense	probably benign	0.11
R6243:Col6a4	UTSW	9	105,890,589 (GRCm39)	missense	possibly damaging	0.95
R6285:Col6a4	UTSW	9	105,952,185 (GRCm39)	missense	probably damaging	0.96
R6288:Col6a4	UTSW	9	105,945,462 (GRCm39)	missense	probably damaging	0.99
R6361:Col6a4	UTSW	9	105,943,902 (GRCm39)	missense	probably benign	0.28
R6485:Col6a4	UTSW	9	105,954,069 (GRCm39)	critical splice donor site	probably null
R6490:Col6a4	UTSW	9	105,952,191 (GRCm39)	nonsense	probably null
R6537:Col6a4	UTSW	9	105,945,153 (GRCm39)	missense	possibly damaging	0.87
R6598:Col6a4	UTSW	9	105,877,611 (GRCm39)	missense	probably damaging	0.99
R6643:Col6a4	UTSW	9	105,877,830 (GRCm39)	missense	probably damaging	0.96
R6905:Col6a4	UTSW	9	105,937,517 (GRCm39)	splice site	probably null
R6944:Col6a4	UTSW	9	105,949,370 (GRCm39)	missense	probably damaging	0.98
R7015:Col6a4	UTSW	9	105,910,954 (GRCm39)	critical splice donor site	probably null
R7027:Col6a4	UTSW	9	105,944,213 (GRCm39)	missense	probably damaging	1.00
R7088:Col6a4	UTSW	9	105,877,885 (GRCm39)	missense	possibly damaging	0.56
R7200:Col6a4	UTSW	9	105,949,448 (GRCm39)	missense	possibly damaging	0.68
R7238:Col6a4	UTSW	9	105,877,519 (GRCm39)	missense	probably damaging	0.99
R7273:Col6a4	UTSW	9	105,877,656 (GRCm39)	missense	possibly damaging	0.92
R7335:Col6a4	UTSW	9	105,954,091 (GRCm39)	missense	possibly damaging	0.90
R7418:Col6a4	UTSW	9	105,900,114 (GRCm39)	missense	probably damaging	1.00
R7421:Col6a4	UTSW	9	105,897,994 (GRCm39)	missense	probably damaging	0.99
R7530:Col6a4	UTSW	9	105,945,589 (GRCm39)	missense	probably damaging	0.99
R7600:Col6a4	UTSW	9	105,944,198 (GRCm39)	missense	possibly damaging	0.86
R7701:Col6a4	UTSW	9	105,960,087 (GRCm39)	missense	probably benign	0.17
R7830:Col6a4	UTSW	9	105,952,589 (GRCm39)	missense	probably damaging	0.99
R7881:Col6a4	UTSW	9	105,957,497 (GRCm39)	missense	probably benign	0.14
R8157:Col6a4	UTSW	9	105,945,097 (GRCm39)	missense	possibly damaging	0.92
R8292:Col6a4	UTSW	9	105,954,076 (GRCm39)	missense	probably benign	0.01
R8309:Col6a4	UTSW	9	105,952,414 (GRCm39)	missense	probably benign	0.08
R8336:Col6a4	UTSW	9	105,952,528 (GRCm39)	missense	possibly damaging	0.65
R8359:Col6a4	UTSW	9	105,945,583 (GRCm39)	missense	probably benign	0.00
R8530:Col6a4	UTSW	9	105,957,704 (GRCm39)	missense	probably benign	0.31
R8556:Col6a4	UTSW	9	105,944,252 (GRCm39)	missense	probably damaging	0.96
R8832:Col6a4	UTSW	9	105,949,353 (GRCm39)	missense	probably benign
R9001:Col6a4	UTSW	9	105,944,370 (GRCm39)	missense	probably benign	0.26
R9009:Col6a4	UTSW	9	105,954,404 (GRCm39)	missense	probably benign	0.38
R9069:Col6a4	UTSW	9	105,952,138 (GRCm39)	missense	possibly damaging	0.85
R9155:Col6a4	UTSW	9	105,952,209 (GRCm39)	missense	probably benign
R9175:Col6a4	UTSW	9	105,957,560 (GRCm39)	missense	probably benign
R9176:Col6a4	UTSW	9	105,938,755 (GRCm39)	missense	probably damaging	1.00
R9295:Col6a4	UTSW	9	105,957,734 (GRCm39)	missense	probably damaging	1.00
R9298:Col6a4	UTSW	9	105,945,534 (GRCm39)	missense	probably damaging	0.96
R9389:Col6a4	UTSW	9	105,877,983 (GRCm39)	missense	probably damaging	1.00
R9424:Col6a4	UTSW	9	105,945,271 (GRCm39)	missense	probably benign	0.30
R9576:Col6a4	UTSW	9	105,945,271 (GRCm39)	missense	probably benign	0.30
RF022:Col6a4	UTSW	9	105,954,207 (GRCm39)	missense	probably damaging	0.99
X0025:Col6a4	UTSW	9	105,877,654 (GRCm39)	missense	probably damaging	0.99
Z1176:Col6a4	UTSW	9	105,878,069 (GRCm39)	missense	probably damaging	0.99
Z1176:Col6a4	UTSW	9	105,877,996 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2013-04-24