Mutagenetix > Incidental Mutation

Incidental Mutation 'R1528:Col6a4'

166378

Institutional Source

Beutler Lab

Gene Symbol

Col6a4

Ensembl Gene

ENSMUSG00000032572

Gene Name

collagen, type VI, alpha 4

Synonyms

Vwa6, EG235580, 1110001D15Rik, Dvwa

MMRRC Submission

039568-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105866653-105973982 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105952419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 493 (M493K)

Ref Sequence

ENSEMBL: ENSMUSP00000112472 (fasta)

Gene Model

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

AlphaFold

A2AX52

Predicted Effect

probably damaging
Transcript: ENSMUST00000121963
AA Change: M493K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: M493K

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,903,530 (GRCm39)	Q262L	possibly damaging	Het
Abcg4	T	C	9: 44,186,020 (GRCm39)	Y617C	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Ano1	T	G	7: 144,149,303 (GRCm39)	S853R	probably damaging	Het
Ap4e1	T	A	2: 126,853,743 (GRCm39)	S60R	possibly damaging	Het
Atp4b	C	A	8: 13,439,693 (GRCm39)	K176N	possibly damaging	Het
Atxn2	A	T	5: 121,940,171 (GRCm39)	D982V	probably damaging	Het
Atxn2	T	C	5: 121,951,593 (GRCm39)	F646S	probably damaging	Het
Bcl2l13	T	C	6: 120,847,755 (GRCm39)	C136R	possibly damaging	Het
Bltp1	C	T	3: 37,106,684 (GRCm39)	H5005Y	unknown	Het
Cacna1i	A	G	15: 80,275,975 (GRCm39)		probably null	Het
Ccdc122	T	A	14: 77,305,379 (GRCm39)	V11D	possibly damaging	Het
Cdnf	A	G	2: 3,522,078 (GRCm39)	D90G	probably damaging	Het
Cep104	T	G	4: 154,078,965 (GRCm39)	V323G	probably benign	Het
Chmp6	A	G	11: 119,807,541 (GRCm39)	D128G	probably benign	Het
Clec18a	A	T	8: 111,805,498 (GRCm39)	M201K	probably benign	Het
Col11a1	A	T	3: 114,010,644 (GRCm39)		probably benign	Het
Crygd	A	C	1: 65,102,216 (GRCm39)		probably null	Het
Dennd1c	T	C	17: 57,373,935 (GRCm39)	T543A	probably benign	Het
Erbb4	A	T	1: 68,117,741 (GRCm39)	C891*	probably null	Het
Ercc5	A	T	1: 44,217,401 (GRCm39)	K915*	probably null	Het
Ercc6	A	T	14: 32,240,979 (GRCm39)	N168Y	probably damaging	Het
Esrp2	G	T	8: 106,863,384 (GRCm39)	P6T	unknown	Het
Exoc1	A	G	5: 76,697,411 (GRCm39)	K396R	possibly damaging	Het
Fat3	T	A	9: 15,836,387 (GRCm39)	Y4039F	probably benign	Het
Fcsk	A	T	8: 111,609,873 (GRCm39)	L1047Q	probably damaging	Het
Fgf7	T	A	2: 125,877,738 (GRCm39)	M35K	probably damaging	Het
Fras1	G	A	5: 96,784,678 (GRCm39)	G887D	probably damaging	Het
Gbp4	A	T	5: 105,269,658 (GRCm39)		probably null	Het
Homez	A	T	14: 55,095,162 (GRCm39)	M182K	probably benign	Het
Hrnr	G	A	3: 93,230,101 (GRCm39)	S113N	possibly damaging	Het
Ifit3b	T	G	19: 34,589,072 (GRCm39)	S83A	probably benign	Het
Ildr2	A	G	1: 166,098,064 (GRCm39)		probably null	Het
Klhdc1	A	T	12: 69,309,972 (GRCm39)	R291S	probably benign	Het
Krt77	T	A	15: 101,769,523 (GRCm39)	I413F	probably damaging	Het
Lipn	A	G	19: 34,046,070 (GRCm39)	I14M	probably damaging	Het
Macf1	T	G	4: 123,369,807 (GRCm39)	R86S	probably benign	Het
Mroh8	C	A	2: 157,071,975 (GRCm39)	G510V	probably damaging	Het
Mycbp2	A	T	14: 103,470,033 (GRCm39)	D1255E	possibly damaging	Het
Nckap5	C	T	1: 125,952,659 (GRCm39)	V1234I	possibly damaging	Het
Nlrp9c	T	C	7: 26,081,723 (GRCm39)	K668E	probably damaging	Het
Nod2	T	C	8: 89,391,217 (GRCm39)	M508T	possibly damaging	Het
Npffr1	A	G	10: 61,450,016 (GRCm39)	M97V	possibly damaging	Het
Nsd3	G	A	8: 26,188,795 (GRCm39)	V43M	probably damaging	Het
Nubp2	A	G	17: 25,103,388 (GRCm39)	V163A	probably damaging	Het
Oas1e	A	T	5: 120,926,054 (GRCm39)	F338Y	probably damaging	Het
Oat	C	A	7: 132,165,998 (GRCm39)	G196C	probably damaging	Het
Or4a69	C	T	2: 89,312,897 (GRCm39)	G194D	probably damaging	Het
Or52e8b	A	T	7: 104,673,971 (GRCm39)	L72Q	probably damaging	Het
Or7a41	T	C	10: 78,871,398 (GRCm39)	L256P	probably damaging	Het
P2ry13	T	C	3: 59,117,710 (GRCm39)	T23A	probably benign	Het
Phf8-ps	A	G	17: 33,286,215 (GRCm39)	S196P	probably damaging	Het
Pja2	C	A	17: 64,616,217 (GRCm39)	S226I	possibly damaging	Het
Pkhd1l1	T	C	15: 44,390,120 (GRCm39)	V1412A	probably damaging	Het
Plekhs1	T	C	19: 56,468,427 (GRCm39)	S332P	probably damaging	Het
Polr3e	T	A	7: 120,539,820 (GRCm39)	N522K	probably damaging	Het
Prdm10	A	G	9: 31,268,582 (GRCm39)	T844A	probably damaging	Het
Ripk1	C	T	13: 34,212,130 (GRCm39)	P480L	probably benign	Het
Rnf139	T	C	15: 58,771,064 (GRCm39)	V363A	probably damaging	Het
Rnf19a	A	T	15: 36,265,801 (GRCm39)	S99T	possibly damaging	Het
Rnf224	G	A	2: 25,126,110 (GRCm39)	T81I	probably benign	Het
Rpgrip1	T	C	14: 52,349,681 (GRCm39)	L23S	probably benign	Het
Setd5	T	A	6: 113,098,699 (GRCm39)	F758L	probably damaging	Het
Smlr1	C	A	10: 25,411,976 (GRCm39)	V4L	possibly damaging	Het
Snx1	T	C	9: 66,016,825 (GRCm39)	D34G	probably damaging	Het
Spaca5	A	T	X: 20,942,892 (GRCm39)	T92S	probably benign	Het
Speer4f2	A	G	5: 17,581,540 (GRCm39)	T161A		Het
Swi5	C	A	2: 32,170,716 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,012,874 (GRCm39)	D2689E	probably benign	Het
Tcof1	T	A	18: 60,948,071 (GRCm39)	K1299*	probably null	Het
Tmprss11e	G	A	5: 86,872,069 (GRCm39)	T49I	probably damaging	Het
Tmx3	T	A	18: 90,555,210 (GRCm39)	V309D	possibly damaging	Het
Trim30b	C	G	7: 104,006,506 (GRCm39)	V117L	possibly damaging	Het
Tsen2	C	A	6: 115,536,989 (GRCm39)	H248Q	probably benign	Het
Ttn	T	C	2: 76,567,412 (GRCm39)	Y19500C	probably damaging	Het
Tubgcp2	A	G	7: 139,613,696 (GRCm39)		probably benign	Het
Vwf	A	C	6: 125,585,254 (GRCm39)	D712A	possibly damaging	Het
Wfdc2	A	G	2: 164,407,828 (GRCm39)	K166E	probably damaging	Het
Xrcc2	T	C	5: 25,897,292 (GRCm39)	D219G	probably benign	Het
Zc3h6	C	T	2: 128,858,989 (GRCm39)	P1007S	probably benign	Het
Zdhhc17	A	T	10: 110,784,050 (GRCm39)		probably null	Het
Zfp369	T	A	13: 65,439,979 (GRCm39)	I221N	probably damaging	Het
Zfp655	A	T	5: 145,181,411 (GRCm39)	N423I	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
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

PCR Primer
(F):5'- TGTCAAAGTCCTGCAAGCCCAC -3'
(R):5'- TATTGACACCTCCCAGGGGACATC -3'

Sequencing Primer
(F):5'- TCCTCAGGATCTGTGCGAC -3'
(R):5'- TCCCAGGGGACATCACAGG -3'

Posted On

2014-04-13