Mutagenetix > Incidental Mutation

Incidental Mutation 'R0095:Col6a4'

16894

Institutional Source

Beutler Lab

Gene Symbol

Col6a4

Ensembl Gene

ENSMUSG00000032572

Gene Name

collagen, type VI, alpha 4

Synonyms

Vwa6, 1110001D15Rik, EG235580, Dvwa

MMRRC Submission

038381-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0095 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

105989454-106096783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106075356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 448 (W448R)

Ref Sequence

ENSEMBL: ENSMUSP00000112472 (fasta)

Gene Model

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

AlphaFold

A2AX52

Predicted Effect

probably benign
Transcript: ENSMUST00000121963
AA Change: W448R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: W448R

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: ENSMUST00000137847

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 88.6%
3x: 85.1%
10x: 74.3%
20x: 56.3%

Validation Efficiency

88% (50/57)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	T	C	1: 9,560,177 (GRCm38)	I317T	possibly damaging	Het
Aldh3a2	C	T	11: 61,250,948 (GRCm38)	G21D	probably damaging	Het
Alms1	C	A	6: 85,620,253 (GRCm38)	T1156N	possibly damaging	Het
Anxa8	G	A	14: 34,086,071 (GRCm38)	A6T	probably benign	Het
Arhgef4	C	T	1: 34,732,370 (GRCm38)	Q86*	probably null	Het
Atp4a	T	A	7: 30,720,735 (GRCm38)	I769N	probably damaging	Het
Cacnb2	G	T	2: 14,958,775 (GRCm38)	V61F	probably damaging	Het
Clcf1	T	G	19: 4,215,788 (GRCm38)		probably benign	Het
Cmah	G	T	13: 24,436,685 (GRCm38)	A301S	probably benign	Het
Csmd1	A	T	8: 16,233,051 (GRCm38)	D630E	probably damaging	Het
Dock10	A	T	1: 80,524,071 (GRCm38)	Y1434N	probably benign	Het
Etl4	A	G	2: 20,743,868 (GRCm38)	D137G	probably damaging	Het
Fer	A	T	17: 63,941,326 (GRCm38)	E361V	possibly damaging	Het
Foxp2	C	A	6: 15,196,977 (GRCm38)	A6E	probably damaging	Het
Gpr3	T	A	4: 133,211,286 (GRCm38)	D25V	probably benign	Het
Gstm7	A	T	3: 107,930,563 (GRCm38)		probably benign	Het
Gys1	T	C	7: 45,444,649 (GRCm38)	V332A	possibly damaging	Het
Igsf10	A	T	3: 59,331,196 (GRCm38)	Y521*	probably null	Het
Itk	T	C	11: 46,342,452 (GRCm38)	D266G	probably damaging	Het
Kdm1a	C	T	4: 136,550,894 (GRCm38)	R839H	probably benign	Het
Lypla1	T	C	1: 4,830,327 (GRCm38)		probably benign	Het
Mmp1a	G	A	9: 7,465,620 (GRCm38)	G186D	possibly damaging	Het
Myl3	A	C	9: 110,767,929 (GRCm38)	D119A	probably damaging	Het
Necab1	T	A	4: 14,960,027 (GRCm38)	N307Y	possibly damaging	Het
Olfr510	A	C	7: 108,668,045 (GRCm38)	I210L	probably benign	Het
Plekha5	T	C	6: 140,528,597 (GRCm38)	F84L	probably damaging	Het
Plxnb2	A	G	15: 89,165,331 (GRCm38)	S562P	probably benign	Het
Rfx8	C	T	1: 39,685,536 (GRCm38)	V222M	possibly damaging	Het
Rpap3	A	G	15: 97,680,536 (GRCm38)		probably benign	Het
Rpl6	T	G	5: 121,205,839 (GRCm38)	V115G	possibly damaging	Het
Sec16a	A	T	2: 26,425,760 (GRCm38)		probably null	Het
Sema3d	T	C	5: 12,563,347 (GRCm38)	Y464H	probably damaging	Het
Sgo2a	T	A	1: 58,015,555 (GRCm38)	N299K	probably benign	Het
Tecrl	T	C	5: 83,294,570 (GRCm38)		probably benign	Het
Thsd7a	T	C	6: 12,320,970 (GRCm38)	T1569A	probably damaging	Het
U2surp	T	C	9: 95,500,684 (GRCm38)		probably null	Het
Unc45a	T	C	7: 80,329,543 (GRCm38)	D567G	probably damaging	Het
Zfp532	A	G	18: 65,624,784 (GRCm38)	Y596C	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
IGL02220:Col6a4	APN	9	106,062,942 (GRCm38)	missense	possibly damaging	0.91
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
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

2013-01-20