Mutagenetix > Incidental Mutation

Incidental Mutation 'R4719:Col6a4'

354310

Institutional Source

Beutler Lab

Gene Symbol

Col6a4

Ensembl Gene

ENSMUSG00000032572

Gene Name

collagen, type VI, alpha 4

Synonyms

Vwa6, EG235580, 1110001D15Rik, Dvwa

MMRRC Submission

041957-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105866653-105973982 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105945451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 888 (F888I)

Ref Sequence

ENSEMBL: ENSMUSP00000112472 (fasta)

Gene Model

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

AlphaFold

A2AX52

Predicted Effect

probably damaging
Transcript: ENSMUST00000121963
AA Change: F888I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572
AA Change: F888I

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,089,971 (GRCm39)	Y971C	probably damaging	Het
Actr5	T	A	2: 158,468,433 (GRCm39)	S188T	probably damaging	Het
Adamtsl4	A	G	3: 95,586,896 (GRCm39)		probably null	Het
Agbl2	A	G	2: 90,645,733 (GRCm39)	N822S	probably benign	Het
Ankdd1b	T	A	13: 96,554,255 (GRCm39)		probably benign	Het
Arhgef40	C	T	14: 52,242,395 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,701 (GRCm39)		probably null	Het
Atpsckmt	T	G	15: 31,608,243 (GRCm39)	V98G	probably damaging	Het
Cacna1s	T	C	1: 136,046,390 (GRCm39)		probably benign	Het
Car9	G	A	4: 43,508,616 (GRCm39)	W42*	probably null	Het
Cdh20	T	C	1: 104,862,035 (GRCm39)	Y72H	probably damaging	Het
Ces1g	T	C	8: 94,043,718 (GRCm39)	D407G	possibly damaging	Het
Cngb3	T	A	4: 19,309,562 (GRCm39)	D73E	probably benign	Het
Dgat2	T	C	7: 98,807,504 (GRCm39)	D222G	probably benign	Het
Dscaml1	T	C	9: 45,583,993 (GRCm39)	M486T	probably benign	Het
Faim2	C	T	15: 99,425,460 (GRCm39)		probably null	Het
Fance	T	C	17: 28,537,293 (GRCm39)		probably benign	Het
Fancm	G	T	12: 65,168,480 (GRCm39)	M1614I	possibly damaging	Het
Fcrl5	A	T	3: 87,351,496 (GRCm39)	N248I	probably damaging	Het
Foxo3	G	A	10: 42,073,774 (GRCm39)	R29W	probably damaging	Het
Gabbr2	A	G	4: 46,718,797 (GRCm39)	Y74H	probably damaging	Het
Gatd1	A	C	7: 140,990,981 (GRCm39)	D55E	probably benign	Het
Gpr152	C	A	19: 4,193,223 (GRCm39)	Q255K	possibly damaging	Het
Havcr1	A	G	11: 46,643,268 (GRCm39)	T63A	probably benign	Het
Hltf	T	C	3: 20,118,865 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,590,030 (GRCm39)	Q402L	probably damaging	Het
Ints3	A	G	3: 90,322,828 (GRCm39)	L134S	probably benign	Het
Kcna10	A	G	3: 107,102,217 (GRCm39)	T283A	probably benign	Het
Kmt2e	A	C	5: 23,697,313 (GRCm39)	R590S	probably damaging	Het
Lefty1	A	T	1: 180,765,277 (GRCm39)	N282Y	probably benign	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Lrrn2	T	C	1: 132,866,915 (GRCm39)	V660A	probably benign	Het
Lyst	T	C	13: 13,824,935 (GRCm39)	S1517P	probably benign	Het
Mcoln2	A	G	3: 145,881,468 (GRCm39)	H208R	probably benign	Het
Mdga2	C	T	12: 66,517,775 (GRCm39)		probably benign	Het
Mpp2	T	A	11: 101,955,259 (GRCm39)	E122V	possibly damaging	Het
Mrgprb5	T	C	7: 47,818,526 (GRCm39)	N70D	probably damaging	Het
Muc5ac	A	T	7: 141,343,500 (GRCm39)	E37D	possibly damaging	Het
Nbeal1	T	A	1: 60,274,722 (GRCm39)		probably null	Het
Ncoa6	T	C	2: 155,233,081 (GRCm39)		probably benign	Het
Nfib	C	A	4: 82,422,967 (GRCm39)		probably null	Het
Nostrin	G	T	2: 68,975,156 (GRCm39)	G24*	probably null	Het
Nudc	A	G	4: 133,260,576 (GRCm39)	Y293H	probably damaging	Het
Or51a42	T	A	7: 103,707,940 (GRCm39)	N290Y	probably damaging	Het
Pcmtd1	T	A	1: 7,225,325 (GRCm39)	Y41*	probably null	Het
Pigt	T	C	2: 164,343,544 (GRCm39)	L340P	probably damaging	Het
Pomgnt1	T	C	4: 116,012,972 (GRCm39)	Y420H	probably damaging	Het
Pramel6	C	T	2: 87,341,096 (GRCm39)	T476I	probably benign	Het
Ptprn2	T	A	12: 116,788,016 (GRCm39)	H118Q	possibly damaging	Het
Rasl10a	G	A	11: 5,008,517 (GRCm39)	S71N	probably benign	Het
Rnf213	A	G	11: 119,310,893 (GRCm39)	I804V	probably benign	Het
Rps4l-ps	T	C	7: 114,526,537 (GRCm39)		noncoding transcript	Het
Sash1	T	A	10: 8,605,477 (GRCm39)	H971L	probably benign	Het
Secisbp2	T	A	13: 51,806,768 (GRCm39)	F54L	possibly damaging	Het
Senp1	A	T	15: 97,954,731 (GRCm39)	H484Q	probably benign	Het
Slc12a1	T	C	2: 124,995,913 (GRCm39)	I22T	possibly damaging	Het
Slc25a36	A	G	9: 96,972,172 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,140,731 (GRCm39)	S1443T	probably benign	Het
Sv2c	T	C	13: 96,123,319 (GRCm39)	T385A	probably benign	Het
Tas2r131	T	A	6: 132,933,936 (GRCm39)	H291L	probably damaging	Het
Thbs3	A	G	3: 89,124,147 (GRCm39)	D80G	probably damaging	Het
Tnxb	C	T	17: 34,908,394 (GRCm39)	S1349L	probably damaging	Het
Toporsl	A	G	4: 52,611,996 (GRCm39)	R630G	probably benign	Het
Vmn1r43	C	A	6: 89,846,837 (GRCm39)	M216I	probably benign	Het
Wdr17	T	A	8: 55,092,911 (GRCm39)	E1068D	probably benign	Het
Wnt10a	G	A	1: 74,842,762 (GRCm39)	V413I	probably damaging	Het
Zfp141	T	C	7: 42,126,111 (GRCm39)		probably null	Het
Zfp169	T	C	13: 48,643,634 (GRCm39)	I498V	probably benign	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
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'- AACGTCGATTCTGGCAGTG -3'
(R):5'- ACGGTGGTAGTCAGGATCAG -3'

Sequencing Primer
(F):5'- AGTGTTTTGGAAGACTGGTACC -3'
(R):5'- TCCTGACATTCTGTTCTAATGGG -3'

Posted On

2015-10-21