Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02220:Col6a4'

285117

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col6a4

Ensembl Gene

ENSMUSG00000032572

Gene Name

collagen, type VI, alpha 4

Synonyms

Vwa6, 1110001D15Rik, EG235580, Dvwa

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

105989454-106096783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106062942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1263 (V1263A)

Ref Sequence

ENSEMBL: ENSMUSP00000112472 (fasta)

Gene Model

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

AlphaFold

A2AX52

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121963
AA Change: V1263A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: V1263A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,711,172 (GRCm38)	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,977,499 (GRCm38)	M1V	probably null	Het
Anks1	T	C	17: 28,054,707 (GRCm38)	I977T	probably damaging	Het
Bcar1	T	C	8: 111,711,207 (GRCm38)	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,974,891 (GRCm38)	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,514,879 (GRCm38)	G473D	probably damaging	Het
Cdh23	G	T	10: 60,305,124 (GRCm38)	H3148Q	probably damaging	Het
Crtc2	T	C	3: 90,259,148 (GRCm38)		probably benign	Het
D130043K22Rik	G	A	13: 24,883,755 (GRCm38)	G825S	possibly damaging	Het
Dera	T	A	6: 137,780,817 (GRCm38)		probably null	Het
Dnah17	G	T	11: 118,072,967 (GRCm38)	Y2506*	probably null	Het
Enam	T	A	5: 88,504,559 (GRCm38)	L1309*	probably null	Het
Fbxo15	G	A	18: 84,964,192 (GRCm38)		probably null	Het
Fgfbp1	T	C	5: 43,979,486 (GRCm38)	K155E	probably damaging	Het
Foxj2	C	T	6: 122,838,581 (GRCm38)		probably benign	Het
Fuca1	A	G	4: 135,939,219 (GRCm38)		probably benign	Het
Gad1-ps	T	A	10: 99,445,322 (GRCm38)		noncoding transcript	Het
H2-Eb2	C	T	17: 34,325,687 (GRCm38)		probably benign	Het
Insr	A	T	8: 3,159,578 (GRCm38)	F1168L	probably damaging	Het
Isx	T	A	8: 74,892,705 (GRCm38)	V175E	possibly damaging	Het
Kansl3	T	C	1: 36,367,989 (GRCm38)		probably benign	Het
Lin9	T	C	1: 180,667,367 (GRCm38)	I218T	probably damaging	Het
Llgl2	C	A	11: 115,845,379 (GRCm38)	A126D	possibly damaging	Het
Ltbp2	T	C	12: 84,829,309 (GRCm38)	E488G	possibly damaging	Het
Maml3	A	G	3: 51,690,218 (GRCm38)	V369A	possibly damaging	Het
Mthfsl	A	G	9: 88,715,655 (GRCm38)	I14T	probably damaging	Het
Myo3b	A	G	2: 70,289,579 (GRCm38)		probably benign	Het
Nfkbil1	T	C	17: 35,220,746 (GRCm38)	R264G	possibly damaging	Het
Olfr140	A	G	2: 90,051,694 (GRCm38)	L210P	probably damaging	Het
Pde5a	G	T	3: 122,748,382 (GRCm38)	A174S	probably benign	Het
Plch1	A	T	3: 63,698,961 (GRCm38)	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,481,775 (GRCm38)	R1171L	probably damaging	Het
Prom1	T	C	5: 44,014,789 (GRCm38)	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,743 (GRCm38)		probably benign	Het
Samsn1	A	G	16: 75,883,875 (GRCm38)		probably null	Het
Sbno2	T	A	10: 80,072,368 (GRCm38)	T66S	probably benign	Het
Serpina1c	T	A	12: 103,896,079 (GRCm38)	I326F	probably damaging	Het
Slc12a1	T	C	2: 125,188,270 (GRCm38)		probably null	Het
Slc18a2	A	G	19: 59,276,556 (GRCm38)	E324G	probably benign	Het
Slc40a1	A	T	1: 45,911,335 (GRCm38)	M319K	probably damaging	Het
Slc44a5	T	C	3: 154,250,971 (GRCm38)	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,842,500 (GRCm38)	E63G	possibly damaging	Het
Sv2a	T	C	3: 96,190,716 (GRCm38)	F545S	probably benign	Het
Svop	T	C	5: 114,065,528 (GRCm38)	D65G	probably benign	Het
Tex30	A	T	1: 44,087,022 (GRCm38)	S182R	probably benign	Het
Tmem121b	T	C	6: 120,492,337 (GRCm38)	D473G	probably damaging	Het
Tnfrsf19	C	A	14: 60,973,492 (GRCm38)		probably benign	Het
Tnrc6a	T	C	7: 123,170,456 (GRCm38)	S490P	probably benign	Het
Ubr4	A	G	4: 139,388,435 (GRCm38)	T82A	probably benign	Het
Vps16	A	G	2: 130,441,653 (GRCm38)	D589G	possibly damaging	Het
Zscan29	A	C	2: 121,166,689 (GRCm38)	S184A	probably damaging	Het

Other mutations in Col6a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Col6a4	APN	9	106,022,896 (GRCm38)	missense	probably benign	0.00
IGL00691:Col6a4	APN	9	106,057,407 (GRCm38)	missense	probably damaging	1.00
IGL01508:Col6a4	APN	9	106,013,605 (GRCm38)	missense	possibly damaging	0.95
IGL01580:Col6a4	APN	9	106,068,198 (GRCm38)	missense	probably damaging	1.00
IGL01610:Col6a4	APN	9	106,047,707 (GRCm38)	splice site	probably benign
IGL01813:Col6a4	APN	9	106,077,253 (GRCm38)	missense	probably damaging	1.00
IGL01933:Col6a4	APN	9	106,060,114 (GRCm38)	missense	probably benign	0.04
IGL01973:Col6a4	APN	9	106,062,894 (GRCm38)	missense	probably damaging	1.00
IGL02053:Col6a4	APN	9	106,063,095 (GRCm38)	missense	possibly damaging	0.92
IGL02063:Col6a4	APN	9	106,057,418 (GRCm38)	missense	probably benign	0.01
IGL02065:Col6a4	APN	9	106,077,103 (GRCm38)	missense	probably damaging	0.99
IGL02106:Col6a4	APN	9	106,063,105 (GRCm38)	missense	possibly damaging	0.95
IGL02228:Col6a4	APN	9	106,068,078 (GRCm38)	missense	probably benign
IGL02234:Col6a4	APN	9	106,013,432 (GRCm38)	missense	possibly damaging	0.92
IGL02294:Col6a4	APN	9	106,066,732 (GRCm38)	missense	probably benign	0.04
IGL02314:Col6a4	APN	9	105,997,156 (GRCm38)	missense	probably damaging	0.99
IGL03065:Col6a4	APN	9	106,041,164 (GRCm38)	splice site	probably benign
IGL03086:Col6a4	APN	9	106,082,862 (GRCm38)	splice site	probably benign
IGL03185:Col6a4	APN	9	106,019,454 (GRCm38)	missense	probably damaging	0.97
R0092:Col6a4	UTSW	9	106,013,314 (GRCm38)	missense	probably benign	0.04
R0095:Col6a4	UTSW	9	106,075,356 (GRCm38)	missense	probably benign	0.03
R0230:Col6a4	UTSW	9	106,072,366 (GRCm38)	missense	probably benign	0.11
R0359:Col6a4	UTSW	9	105,997,146 (GRCm38)	missense	probably benign
R0415:Col6a4	UTSW	9	106,075,080 (GRCm38)	missense	probably damaging	0.99
R0433:Col6a4	UTSW	9	106,067,994 (GRCm38)	missense	probably damaging	0.99
R0450:Col6a4	UTSW	9	106,080,547 (GRCm38)	missense	probably damaging	1.00
R0469:Col6a4	UTSW	9	106,080,547 (GRCm38)	missense	probably damaging	1.00
R0490:Col6a4	UTSW	9	106,013,770 (GRCm38)	missense	probably damaging	0.99
R0621:Col6a4	UTSW	9	106,066,791 (GRCm38)	missense	probably damaging	0.97
R0667:Col6a4	UTSW	9	106,029,959 (GRCm38)	splice site	probably benign
R0681:Col6a4	UTSW	9	106,067,144 (GRCm38)	nonsense	probably null
R0690:Col6a4	UTSW	9	106,028,187 (GRCm38)	splice site	probably benign
R0714:Col6a4	UTSW	9	106,017,903 (GRCm38)	unclassified	probably benign
R0788:Col6a4	UTSW	9	106,071,998 (GRCm38)	missense	probably benign	0.15
R1036:Col6a4	UTSW	9	106,068,198 (GRCm38)	missense	probably damaging	1.00
R1296:Col6a4	UTSW	9	106,062,853 (GRCm38)	missense	possibly damaging	0.47
R1386:Col6a4	UTSW	9	106,062,945 (GRCm38)	missense	probably benign	0.15
R1484:Col6a4	UTSW	9	106,013,302 (GRCm38)	critical splice donor site	probably null
R1528:Col6a4	UTSW	9	106,075,220 (GRCm38)	missense	probably damaging	0.99
R1555:Col6a4	UTSW	9	106,000,886 (GRCm38)	missense	possibly damaging	0.93
R1622:Col6a4	UTSW	9	105,997,135 (GRCm38)	missense	probably benign	0.01
R1653:Col6a4	UTSW	9	106,072,409 (GRCm38)	missense	probably damaging	0.99
R1720:Col6a4	UTSW	9	106,026,472 (GRCm38)	missense	probably damaging	1.00
R1768:Col6a4	UTSW	9	106,080,100 (GRCm38)	missense	probably benign
R1941:Col6a4	UTSW	9	106,075,010 (GRCm38)	missense	probably benign	0.00
R2092:Col6a4	UTSW	9	106,060,331 (GRCm38)	missense	probably damaging	1.00
R2134:Col6a4	UTSW	9	106,066,661 (GRCm38)	missense	probably benign	0.09
R2149:Col6a4	UTSW	9	106,076,929 (GRCm38)	missense	probably benign	0.00
R2174:Col6a4	UTSW	9	106,060,132 (GRCm38)	missense	probably damaging	0.98
R2204:Col6a4	UTSW	9	106,060,132 (GRCm38)	missense	probably damaging	0.98
R2248:Col6a4	UTSW	9	106,079,959 (GRCm38)	missense	probably benign	0.15
R2568:Col6a4	UTSW	9	106,063,076 (GRCm38)	missense	possibly damaging	0.90
R3750:Col6a4	UTSW	9	106,020,665 (GRCm38)	critical splice acceptor site	probably null
R3751:Col6a4	UTSW	9	106,072,114 (GRCm38)	missense	probably damaging	0.98
R3776:Col6a4	UTSW	9	106,051,701 (GRCm38)	nonsense	probably null
R3872:Col6a4	UTSW	9	106,013,659 (GRCm38)	missense	possibly damaging	0.95
R4043:Col6a4	UTSW	9	106,072,411 (GRCm38)	nonsense	probably null
R4056:Col6a4	UTSW	9	106,026,466 (GRCm38)	missense	probably damaging	0.98
R4212:Col6a4	UTSW	9	106,075,370 (GRCm38)	missense	probably benign	0.28
R4417:Col6a4	UTSW	9	106,072,016 (GRCm38)	missense	probably damaging	0.99
R4683:Col6a4	UTSW	9	106,080,130 (GRCm38)	missense	probably benign	0.00
R4719:Col6a4	UTSW	9	106,068,252 (GRCm38)	missense	probably damaging	0.99
R4791:Col6a4	UTSW	9	106,080,202 (GRCm38)	missense	possibly damaging	0.68
R4833:Col6a4	UTSW	9	106,071,979 (GRCm38)	missense	probably benign	0.00
R4886:Col6a4	UTSW	9	106,060,072 (GRCm38)	missense	probably benign	0.00
R4998:Col6a4	UTSW	9	105,990,778 (GRCm38)	utr 3 prime	probably benign
R5091:Col6a4	UTSW	9	106,075,063 (GRCm38)	missense	probably damaging	1.00
R5113:Col6a4	UTSW	9	106,066,960 (GRCm38)	missense	possibly damaging	0.89
R5129:Col6a4	UTSW	9	106,013,377 (GRCm38)	missense	probably damaging	0.98
R5231:Col6a4	UTSW	9	106,025,531 (GRCm38)	missense	probably damaging	0.96
R5297:Col6a4	UTSW	9	106,074,867 (GRCm38)	missense	probably benign	0.02
R5352:Col6a4	UTSW	9	106,061,544 (GRCm38)	missense	probably damaging	1.00
R5438:Col6a4	UTSW	9	106,013,696 (GRCm38)	missense	possibly damaging	0.95
R5518:Col6a4	UTSW	9	106,072,188 (GRCm38)	missense	possibly damaging	0.68
R5657:Col6a4	UTSW	9	106,072,198 (GRCm38)	missense	probably damaging	0.99
R5660:Col6a4	UTSW	9	105,996,116 (GRCm38)	missense	probably benign	0.01
R5662:Col6a4	UTSW	9	106,068,001 (GRCm38)	missense	probably damaging	0.99
R5777:Col6a4	UTSW	9	106,013,696 (GRCm38)	missense	possibly damaging	0.95
R5800:Col6a4	UTSW	9	106,080,275 (GRCm38)	missense	probably damaging	0.99
R5929:Col6a4	UTSW	9	106,063,044 (GRCm38)	missense	probably benign	0.15
R5999:Col6a4	UTSW	9	106,067,921 (GRCm38)	missense	probably benign	0.11
R6243:Col6a4	UTSW	9	106,013,390 (GRCm38)	missense	possibly damaging	0.95
R6285:Col6a4	UTSW	9	106,074,986 (GRCm38)	missense	probably damaging	0.96
R6288:Col6a4	UTSW	9	106,068,263 (GRCm38)	missense	probably damaging	0.99
R6361:Col6a4	UTSW	9	106,066,703 (GRCm38)	missense	probably benign	0.28
R6485:Col6a4	UTSW	9	106,076,870 (GRCm38)	critical splice donor site	probably null
R6490:Col6a4	UTSW	9	106,074,992 (GRCm38)	nonsense	probably null
R6537:Col6a4	UTSW	9	106,067,954 (GRCm38)	missense	possibly damaging	0.87
R6598:Col6a4	UTSW	9	106,000,412 (GRCm38)	missense	probably damaging	0.99
R6643:Col6a4	UTSW	9	106,000,631 (GRCm38)	missense	probably damaging	0.96
R6905:Col6a4	UTSW	9	106,060,318 (GRCm38)	splice site	probably null
R6944:Col6a4	UTSW	9	106,072,171 (GRCm38)	missense	probably damaging	0.98
R7015:Col6a4	UTSW	9	106,033,755 (GRCm38)	critical splice donor site	probably null
R7027:Col6a4	UTSW	9	106,067,014 (GRCm38)	missense	probably damaging	1.00
R7088:Col6a4	UTSW	9	106,000,686 (GRCm38)	missense	possibly damaging	0.56
R7200:Col6a4	UTSW	9	106,072,249 (GRCm38)	missense	possibly damaging	0.68
R7238:Col6a4	UTSW	9	106,000,320 (GRCm38)	missense	probably damaging	0.99
R7273:Col6a4	UTSW	9	106,000,457 (GRCm38)	missense	possibly damaging	0.92
R7335:Col6a4	UTSW	9	106,076,892 (GRCm38)	missense	possibly damaging	0.90
R7418:Col6a4	UTSW	9	106,022,915 (GRCm38)	missense	probably damaging	1.00
R7421:Col6a4	UTSW	9	106,020,795 (GRCm38)	missense	probably damaging	0.99
R7530:Col6a4	UTSW	9	106,068,390 (GRCm38)	missense	probably damaging	0.99
R7600:Col6a4	UTSW	9	106,066,999 (GRCm38)	missense	possibly damaging	0.86
R7701:Col6a4	UTSW	9	106,082,888 (GRCm38)	missense	probably benign	0.17
R7830:Col6a4	UTSW	9	106,075,390 (GRCm38)	missense	probably damaging	0.99
R7881:Col6a4	UTSW	9	106,080,298 (GRCm38)	missense	probably benign	0.14
R8157:Col6a4	UTSW	9	106,067,898 (GRCm38)	missense	possibly damaging	0.92
R8292:Col6a4	UTSW	9	106,076,877 (GRCm38)	missense	probably benign	0.01
R8309:Col6a4	UTSW	9	106,075,215 (GRCm38)	missense	probably benign	0.08
R8336:Col6a4	UTSW	9	106,075,329 (GRCm38)	missense	possibly damaging	0.65
R8359:Col6a4	UTSW	9	106,068,384 (GRCm38)	missense	probably benign	0.00
R8530:Col6a4	UTSW	9	106,080,505 (GRCm38)	missense	probably benign	0.31
R8556:Col6a4	UTSW	9	106,067,053 (GRCm38)	missense	probably damaging	0.96
R8832:Col6a4	UTSW	9	106,072,154 (GRCm38)	missense	probably benign
R9001:Col6a4	UTSW	9	106,067,171 (GRCm38)	missense	probably benign	0.26
R9009:Col6a4	UTSW	9	106,077,205 (GRCm38)	missense	probably benign	0.38
R9069:Col6a4	UTSW	9	106,074,939 (GRCm38)	missense	possibly damaging	0.85
R9155:Col6a4	UTSW	9	106,075,010 (GRCm38)	missense	probably benign
R9175:Col6a4	UTSW	9	106,080,361 (GRCm38)	missense	probably benign
R9176:Col6a4	UTSW	9	106,061,556 (GRCm38)	missense	probably damaging	1.00
R9295:Col6a4	UTSW	9	106,080,535 (GRCm38)	missense	probably damaging	1.00
R9298:Col6a4	UTSW	9	106,068,335 (GRCm38)	missense	probably damaging	0.96
R9389:Col6a4	UTSW	9	106,000,784 (GRCm38)	missense	probably damaging	1.00
R9424:Col6a4	UTSW	9	106,068,072 (GRCm38)	missense	probably benign	0.30
R9576:Col6a4	UTSW	9	106,068,072 (GRCm38)	missense	probably benign	0.30
RF022:Col6a4	UTSW	9	106,077,008 (GRCm38)	missense	probably damaging	0.99
X0025:Col6a4	UTSW	9	106,000,455 (GRCm38)	missense	probably damaging	0.99
Z1176:Col6a4	UTSW	9	106,000,870 (GRCm38)	missense	probably damaging	0.99
Z1176:Col6a4	UTSW	9	106,000,797 (GRCm38)	missense	probably benign

Posted On

2015-04-16