Mutagenetix > Incidental Mutation

Incidental Mutation 'R7418:Col6a4'

575464

Institutional Source

Beutler Lab

Gene Symbol

Col6a4

Ensembl Gene

ENSMUSG00000032572

Gene Name

collagen, type VI, alpha 4

Synonyms

Vwa6, EG235580, 1110001D15Rik, Dvwa

MMRRC Submission

045496-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105866653-105973982 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105900114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 1670 (G1670S)

Ref Sequence

ENSEMBL: ENSMUSP00000112472 (fasta)

Gene Model

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

AlphaFold

A2AX52

Predicted Effect

probably damaging
Transcript: ENSMUST00000121963
AA Change: G1670S

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

SMART Domains

Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: G1670S

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apaf1	T	G	10: 90,859,697 (GRCm39)	H827P	probably benign	Het
Atp8b3	A	T	10: 80,365,926 (GRCm39)	L308Q	probably damaging	Het
Ccdc180	T	C	4: 45,904,616 (GRCm39)	L404P	probably damaging	Het
Cdh13	G	A	8: 120,039,264 (GRCm39)	G569R	probably damaging	Het
Clec14a	G	A	12: 58,315,433 (GRCm39)	T63I	probably damaging	Het
Cngb1	G	T	8: 96,004,887 (GRCm39)	S487*	probably null	Het
Cog5	A	T	12: 31,883,240 (GRCm39)	N390Y	probably damaging	Het
Daxx	T	A	17: 34,129,579 (GRCm39)	D53E	probably benign	Het
Dnah14	C	T	1: 181,444,307 (GRCm39)	T539I	possibly damaging	Het
Dnajc2	A	G	5: 21,965,622 (GRCm39)		probably null	Het
Ehmt1	C	T	2: 24,774,646 (GRCm39)	G53R	probably benign	Het
Eif2b1	T	A	5: 124,714,893 (GRCm39)	N113Y	probably benign	Het
Eya3	A	G	4: 132,408,159 (GRCm39)	T152A	possibly damaging	Het
Fam234b	G	A	6: 135,194,009 (GRCm39)	V221M	probably benign	Het
Fbxl13	T	A	5: 21,786,981 (GRCm39)	T319S	probably benign	Het
Fchsd2	G	T	7: 100,920,831 (GRCm39)	V479F	possibly damaging	Het
Fgd5	T	C	6: 92,001,519 (GRCm39)	S905P	probably benign	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Fxn	C	T	19: 24,257,860 (GRCm39)	V24I	probably benign	Het
Gapvd1	C	T	2: 34,615,130 (GRCm39)	D456N	probably benign	Het
Gm128	C	T	3: 95,147,878 (GRCm39)	V139M	possibly damaging	Het
Gm973	A	G	1: 59,565,972 (GRCm39)	T64A	probably damaging	Het
Gtf2h5	T	A	17: 6,134,903 (GRCm39)	N64K	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Haus6	A	G	4: 86,513,010 (GRCm39)	S386P	possibly damaging	Het
Hsh2d	A	G	8: 72,950,638 (GRCm39)		probably null	Het
Htt	T	C	5: 34,947,697 (GRCm39)	M125T	possibly damaging	Het
Inpp5d	T	A	1: 87,635,933 (GRCm39)		probably null	Het
Ints4	G	A	7: 97,140,179 (GRCm39)	A137T	probably benign	Het
Isl2	A	G	9: 55,451,636 (GRCm39)	D263G	probably benign	Het
Itgb5	T	G	16: 33,705,464 (GRCm39)	D251E	probably damaging	Het
Jpt1	A	T	11: 115,389,095 (GRCm39)	L116Q	probably damaging	Het
Kansl2	A	G	15: 98,429,775 (GRCm39)	S86P	possibly damaging	Het
Kat2b	G	T	17: 53,917,953 (GRCm39)	R104I	possibly damaging	Het
Kcna10	C	A	3: 107,102,362 (GRCm39)	A331D	probably benign	Het
Kcnk3	G	A	5: 30,779,675 (GRCm39)	V242M	possibly damaging	Het
Kdm4a	A	G	4: 118,017,440 (GRCm39)	L542P	probably damaging	Het
Kif20b	T	C	19: 34,907,087 (GRCm39)	F119L	probably damaging	Het
Krtcap3	A	T	5: 31,409,881 (GRCm39)	H149L	probably benign	Het
Lhx4	A	G	1: 155,586,005 (GRCm39)	V102A	probably damaging	Het
Luc7l	T	A	17: 26,472,156 (GRCm39)		probably benign	Het
Myh15	G	T	16: 48,975,900 (GRCm39)	A1323S	possibly damaging	Het
Myl1	T	A	1: 66,965,338 (GRCm39)	R151S	unknown	Het
Naif1	A	G	2: 32,342,583 (GRCm39)	S45G	probably benign	Het
Ndst4	C	T	3: 125,501,800 (GRCm39)	T121I	probably damaging	Het
Neurod6	C	T	6: 55,656,283 (GRCm39)	R118Q	probably damaging	Het
Npl	A	T	1: 153,413,257 (GRCm39)		probably null	Het
Nr4a3	T	C	4: 48,051,476 (GRCm39)	Y77H	probably damaging	Het
Or4a81	A	T	2: 89,619,320 (GRCm39)	C125*	probably null	Het
Or4b1	T	G	2: 89,979,831 (GRCm39)	D173A	probably damaging	Het
Pex11a	G	A	7: 79,392,735 (GRCm39)		probably benign	Het
Rab44	T	A	17: 29,359,470 (GRCm39)	F553I	unknown	Het
Sbf2	C	T	7: 109,965,028 (GRCm39)	R1002H	probably damaging	Het
Sectm1a	C	A	11: 120,960,119 (GRCm39)		probably null	Het
Slit3	G	A	11: 35,577,255 (GRCm39)	V1163M	possibly damaging	Het
Sphk2	G	A	7: 45,361,180 (GRCm39)	R275C	probably damaging	Het
Tango6	A	G	8: 107,415,466 (GRCm39)	S96G	probably benign	Het
Tg	A	G	15: 66,568,432 (GRCm39)	E1373G	probably damaging	Het
Traf3ip1	T	A	1: 91,435,458 (GRCm39)		probably null	Het
Trp53	T	C	11: 69,479,214 (GRCm39)	F131L	probably damaging	Het
Ttc21a	A	T	9: 119,788,117 (GRCm39)	E847D	probably benign	Het
Ttn	A	G	2: 76,602,791 (GRCm39)	F18477S	probably damaging	Het
Usp25	A	T	16: 76,910,730 (GRCm39)	R929*	probably null	Het
Usp49	G	T	17: 47,983,093 (GRCm39)	E33*	probably null	Het
Vmn1r63	A	G	7: 5,806,554 (GRCm39)	V26A	possibly damaging	Het
Vmn1r74	A	T	7: 11,581,081 (GRCm39)	Y127F	possibly damaging	Het
Wdfy3	C	T	5: 102,105,366 (GRCm39)	V154I	probably benign	Het
Xdh	A	G	17: 74,220,960 (GRCm39)	S590P	possibly damaging	Het
Zkscan4	A	G	13: 21,668,799 (GRCm39)	K446E	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
R0359:Col6a4	UTSW	9	105,874,345 (GRCm39)	missense	probably benign
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
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

PCR Primer
(F):5'- CAGTAAGGGAACTCTGTCAAGC -3'
(R):5'- CCAATGTCGTGTTTATCCTGTG -3'

Sequencing Primer
(F):5'- GGAACTCTGTCAAGCTATAAAAAGG -3'
(R):5'- TGTGAAGGCATTCTCCCAG -3'

Posted On

2019-10-07