Mutagenetix > Incidental Mutation

Incidental Mutation 'R7015:Col6a4'

545259

Institutional Source

Beutler Lab

Gene Symbol

Col6a4

Ensembl Gene

ENSMUSG00000032572

Gene Name

collagen, type VI, alpha 4

Synonyms

Vwa6, 1110001D15Rik, EG235580, Dvwa

MMRRC Submission

045116-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105989454-106096783 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 106033755 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112472 (fasta)

Gene Model

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

AlphaFold

A2AX52

Predicted Effect

probably null
Transcript: ENSMUST00000121963

SMART Domains

Protein: ENSMUSP00000112472
Gene: ENSMUSG00000032572

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

93% (55/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	G	1: 160,075,168 (GRCm38)	R3G	possibly damaging	Het
Abcc2	A	G	19: 43,798,178 (GRCm38)	I150V	probably benign	Het
Adgrb1	T	C	15: 74,574,110 (GRCm38)	L1085P	probably damaging	Het
Agbl4	A	G	4: 110,478,500 (GRCm38)	N24D	probably damaging	Het
Aox2	A	G	1: 58,282,758 (GRCm38)	T70A	probably benign	Het
Aplf	G	A	6: 87,641,902 (GRCm38)	A399V	probably damaging	Het
Asxl3	A	G	18: 22,523,921 (GRCm38)	S1663G	probably benign	Het
Bcat1	G	C	6: 145,039,583 (GRCm38)	P43R	probably damaging	Het
Camk1	T	C	6: 113,341,926 (GRCm38)	R9G	probably benign	Het
Casp8ap2	T	C	4: 32,644,278 (GRCm38)	V1117A	probably damaging	Het
Cd300ld4	A	T	11: 115,022,707 (GRCm38)	V174E	probably benign	Het
Cep85l	T	C	10: 53,349,055 (GRCm38)	D146G	possibly damaging	Het
Clip1	T	C	5: 123,613,612 (GRCm38)		probably benign	Het
Cog3	C	T	14: 75,713,276 (GRCm38)	V719I	possibly damaging	Het
Col4a4	G	A	1: 82,506,950 (GRCm38)	P532L	unknown	Het
Dync1h1	C	T	12: 110,666,087 (GRCm38)	Q4547*	probably null	Het
Ergic1	G	A	17: 26,654,879 (GRCm38)		probably benign	Het
Foxn4	G	A	5: 114,256,855 (GRCm38)	T337M	possibly damaging	Het
Gemin5	A	T	11: 58,156,740 (GRCm38)	I336N	probably damaging	Het
Gm21905	A	T	5: 67,946,362 (GRCm38)		probably null	Het
Grik2	C	A	10: 49,535,436 (GRCm38)	R202L	probably damaging	Het
Iglon5	T	C	7: 43,476,927 (GRCm38)	D184G	probably benign	Het
Il11ra1	A	T	4: 41,765,421 (GRCm38)	Q172L	probably benign	Het
Me2	G	T	18: 73,781,147 (GRCm38)		probably null	Het
Med24	A	G	11: 98,718,852 (GRCm38)	V73A	possibly damaging	Het
Mmp24	A	G	2: 155,792,624 (GRCm38)	Q88R	probably damaging	Het
Mroh3	A	T	1: 136,183,331 (GRCm38)	V819E	probably damaging	Het
Mrps9	A	G	1: 42,898,546 (GRCm38)	K247R	probably benign	Het
Myo15b	G	A	11: 115,871,844 (GRCm38)	R1254H		Het
Ncoa5	A	G	2: 165,002,081 (GRCm38)	L134P	probably benign	Het
Olfr628	T	C	7: 103,732,817 (GRCm38)	V297A	probably null	Het
Olfr78	C	A	7: 102,742,444 (GRCm38)	L186F	probably damaging	Het
Olfr984	A	T	9: 40,101,455 (GRCm38)	F12I	probably benign	Het
Pdcd11	A	G	19: 47,098,226 (GRCm38)	I224V	probably benign	Het
Ptprh	C	A	7: 4,552,627 (GRCm38)		probably null	Het
Rab34	G	T	11: 78,190,152 (GRCm38)	V63F	probably damaging	Het
Rack1	T	C	11: 48,801,765 (GRCm38)	I71T	probably benign	Het
Rai14	G	A	15: 10,589,315 (GRCm38)	R266*	probably null	Het
Rsph9	A	G	17: 46,129,456 (GRCm38)	V238A	probably benign	Het
Rsrc1	C	T	3: 66,994,649 (GRCm38)	P44L	unknown	Het
Sel1l3	A	T	5: 53,172,574 (GRCm38)	C480S	probably benign	Het
Sh3pxd2a	C	T	19: 47,268,123 (GRCm38)	A747T	probably benign	Het
Slc1a3	T	C	15: 8,649,568 (GRCm38)	N181S	probably damaging	Het
Slit1	T	A	19: 41,629,886 (GRCm38)	K784*	probably null	Het
Sos2	T	A	12: 69,585,235 (GRCm38)	Q1297L	probably benign	Het
Srd5a2	T	A	17: 74,027,119 (GRCm38)	T102S	probably benign	Het
Ss18l2	A	T	9: 121,712,608 (GRCm38)	I64F	probably damaging	Het
Tas2r120	T	C	6: 132,657,165 (GRCm38)	F70S	possibly damaging	Het
Tjap1	G	A	17: 46,263,774 (GRCm38)	A5V	possibly damaging	Het
Tln2	A	T	9: 67,362,647 (GRCm38)	M488K	possibly damaging	Het
Tnks	T	G	8: 34,838,547 (GRCm38)	I42L	probably benign	Het
Togaram2	A	T	17: 71,709,568 (GRCm38)	Q640L	possibly damaging	Het
Triobp	C	A	15: 78,994,060 (GRCm38)	Q1682K	probably damaging	Het
Trip11	C	T	12: 101,893,683 (GRCm38)	E311K	probably damaging	Het
Ugt2b5	A	G	5: 87,139,796 (GRCm38)	Y171H	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558 (GRCm38)	D548G	possibly damaging	Het
Zfp990	G	T	4: 145,536,635 (GRCm38)	D68Y	probably damaging	Het
Zranb2	A	T	3: 157,536,733 (GRCm38)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCTGACCTTCACTCAGAAATG -3'
(R):5'- AGGTATAACTGCTGCAGGGG -3'

Sequencing Primer
(F):5'- GACCTTCACTCAGAAATGTCATTTC -3'
(R):5'- CAGGGGGAGGCAGACTC -3'

Posted On

2019-05-13