Mutagenetix > Incidental Mutation

Incidental Mutation 'R0278:Col6a6'

24478

Institutional Source

Beutler Lab

Gene Symbol

Col6a6

Ensembl Gene

ENSMUSG00000043719

Gene Name

collagen, type VI, alpha 6

Synonyms

E330026B02Rik

MMRRC Submission

038500-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105566616-105705413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105644487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1267 (V1267E)

Ref Sequence

ENSEMBL: ENSMUSP00000096040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098441] [ENSMUST00000166431]

AlphaFold

Q8C6K9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098441
AA Change: V1267E

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: V1267E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
VWA	24	197	4.26e-26	SMART
VWA	226	407	1.06e-30	SMART
VWA	433	610	5.19e-39	SMART
VWA	619	795	3.58e-42	SMART
VWA	806	982	6.64e-37	SMART
VWA	997	1175	2.7e-37	SMART
VWA	1184	1370	3.45e-1	SMART
Pfam:Collagen	1389	1450	3.3e-9	PFAM
low complexity region	1451	1475	N/A	INTRINSIC
low complexity region	1490	1508	N/A	INTRINSIC
low complexity region	1602	1623	N/A	INTRINSIC
low complexity region	1698	1724	N/A	INTRINSIC
VWA	1754	1937	1.73e-17	SMART
VWA	1962	2145	4.4e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166431
AA Change: V1267E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: V1267E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
VWA	24	197	4.26e-26	SMART
VWA	226	407	1.06e-30	SMART
VWA	433	610	5.19e-39	SMART
VWA	619	795	3.58e-42	SMART
VWA	806	982	6.64e-37	SMART
VWA	997	1175	2.7e-37	SMART
VWA	1184	1370	3.45e-1	SMART
Pfam:Collagen	1389	1450	9.3e-10	PFAM
low complexity region	1451	1475	N/A	INTRINSIC
low complexity region	1490	1508	N/A	INTRINSIC
low complexity region	1602	1623	N/A	INTRINSIC
low complexity region	1698	1724	N/A	INTRINSIC
VWA	1754	1937	1.73e-17	SMART
VWA	1962	2145	4.4e-19	SMART

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,215 (GRCm39)	S3429R	probably damaging	Het
Abca3	A	G	17: 24,600,894 (GRCm39)	D436G	probably benign	Het
Acacb	C	A	5: 114,371,320 (GRCm39)	Y1816*	probably null	Het
Acer3	T	C	7: 97,910,804 (GRCm39)	Y86C	probably damaging	Het
Adgre1	A	G	17: 57,754,872 (GRCm39)	I657V	probably benign	Het
Akap1	A	G	11: 88,736,020 (GRCm39)	V214A	probably benign	Het
Ankrd42	T	C	7: 92,280,865 (GRCm39)	R22G	possibly damaging	Het
Apc2	C	T	10: 80,148,647 (GRCm39)	P1234S	possibly damaging	Het
Atp13a4	A	G	16: 29,273,652 (GRCm39)	I441T	probably damaging	Het
Cenpu	G	A	8: 47,031,344 (GRCm39)	A242T	probably damaging	Het
Crhr2	T	C	6: 55,094,516 (GRCm39)	T58A	probably benign	Het
Ddx6	T	G	9: 44,542,722 (GRCm39)	C385G	probably damaging	Het
Dnah7a	A	T	1: 53,543,305 (GRCm39)	N2288K	probably benign	Het
Egfl8	A	T	17: 34,833,342 (GRCm39)		probably null	Het
Elmo2	A	T	2: 165,139,287 (GRCm39)	I420N	probably damaging	Het
Elovl4	A	G	9: 83,665,248 (GRCm39)	F113L	probably benign	Het
Fancd2	T	A	6: 113,525,409 (GRCm39)		probably null	Het
Fbxl13	A	G	5: 21,728,908 (GRCm39)	V456A	probably benign	Het
Fgfr2	A	T	7: 129,863,592 (GRCm39)		probably null	Het
Fkbpl	A	T	17: 34,864,384 (GRCm39)	R51*	probably null	Het
Fn3krp	G	A	11: 121,312,406 (GRCm39)	V40M	probably damaging	Het
Fnip1	A	G	11: 54,380,169 (GRCm39)		probably null	Het
Gm15446	A	T	5: 110,091,281 (GRCm39)	Q511L	probably benign	Het
Gm7334	A	G	17: 51,006,289 (GRCm39)	K192E	probably damaging	Het
H2-Q10	A	T	17: 35,784,204 (GRCm39)	T282S	possibly damaging	Het
Hspa9	A	G	18: 35,073,963 (GRCm39)	V482A	possibly damaging	Het
Ica1l	A	T	1: 60,053,155 (GRCm39)	S128T	probably benign	Het
Il7r	A	T	15: 9,516,423 (GRCm39)	I126K	probably damaging	Het
Kcnj8	T	C	6: 142,516,074 (GRCm39)	E11G	probably benign	Het
Klkb1	A	C	8: 45,725,446 (GRCm39)	F498V	probably benign	Het
Lama1	A	G	17: 68,117,178 (GRCm39)	E2491G	probably null	Het
Lhfpl2	T	C	13: 94,310,943 (GRCm39)	V71A	probably benign	Het
Lin9	T	C	1: 180,493,488 (GRCm39)	I198T	probably damaging	Het
Lrrc7	T	A	3: 157,885,432 (GRCm39)	M431L	possibly damaging	Het
Nmt2	A	G	2: 3,326,424 (GRCm39)	T519A	probably benign	Het
Or10w1	C	A	19: 13,632,128 (GRCm39)	L112I	probably damaging	Het
Or10w1	T	A	19: 13,632,129 (GRCm39)	L112H	probably damaging	Het
Or1d2	T	C	11: 74,256,028 (GRCm39)	F178L	probably damaging	Het
Or4a74	G	T	2: 89,440,108 (GRCm39)	L113M	probably damaging	Het
Or4a74	A	T	2: 89,440,107 (GRCm39)	L113Q	probably damaging	Het
Or5al7	A	T	2: 85,992,923 (GRCm39)	Y123*	probably null	Het
Or7h8	G	T	9: 20,124,182 (GRCm39)	C179F	probably damaging	Het
Parp4	A	G	14: 56,844,980 (GRCm39)	R624G	probably damaging	Het
Pex16	C	T	2: 92,211,401 (GRCm39)	P325S	probably damaging	Het
Pik3ca	T	C	3: 32,493,902 (GRCm39)	M288T	possibly damaging	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Prss43	T	A	9: 110,656,430 (GRCm39)	M39K	probably benign	Het
Psd4	T	C	2: 24,284,450 (GRCm39)	S105P	probably damaging	Het
Ptprz1	T	A	6: 23,000,816 (GRCm39)	S969T	probably benign	Het
Rad23b	T	A	4: 55,383,575 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl10l	A	G	12: 66,331,130 (GRCm39)	M1T	probably null	Het
Sec16a	A	G	2: 26,318,328 (GRCm39)	S1588P	probably damaging	Het
Sh3rf1	A	T	8: 61,827,052 (GRCm39)	H602L	probably damaging	Het
Sparcl1	A	T	5: 104,236,263 (GRCm39)	S497T	probably benign	Het
Spata13	A	G	14: 60,929,537 (GRCm39)	Y365C	probably benign	Het
Trim5	T	C	7: 103,928,882 (GRCm39)	N20D	probably benign	Het
Vmn1r201	G	T	13: 22,659,194 (GRCm39)	W136L	probably damaging	Het
Vmn2r112	A	G	17: 22,821,987 (GRCm39)	I222V	probably benign	Het
Vmn2r56	A	T	7: 12,449,644 (GRCm39)	V198D	probably damaging	Het
Wapl	A	G	14: 34,414,569 (GRCm39)	D477G	possibly damaging	Het
Zfp202	C	A	9: 40,119,778 (GRCm39)	H194N	probably benign	Het
Zfp212	C	T	6: 47,903,453 (GRCm39)	R13W	probably damaging	Het

Other mutations in Col6a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Col6a6	APN	9	105,635,390 (GRCm39)	critical splice acceptor site	probably null
IGL00768:Col6a6	APN	9	105,659,611 (GRCm39)	missense	probably benign	0.04
IGL00917:Col6a6	APN	9	105,661,453 (GRCm39)	splice site	probably benign
IGL01385:Col6a6	APN	9	105,660,865 (GRCm39)	missense	probably damaging	1.00
IGL01411:Col6a6	APN	9	105,663,157 (GRCm39)	nonsense	probably null
IGL01508:Col6a6	APN	9	105,604,365 (GRCm39)	splice site	probably benign
IGL01668:Col6a6	APN	9	105,586,470 (GRCm39)	missense	probably damaging	1.00
IGL01733:Col6a6	APN	9	105,586,454 (GRCm39)	missense	possibly damaging	0.92
IGL01932:Col6a6	APN	9	105,566,825 (GRCm39)	missense	probably benign	0.02
IGL01934:Col6a6	APN	9	105,575,858 (GRCm39)	critical splice donor site	probably null
IGL01944:Col6a6	APN	9	105,661,108 (GRCm39)	missense	probably damaging	1.00
IGL01980:Col6a6	APN	9	105,658,184 (GRCm39)	missense	probably damaging	0.96
IGL02114:Col6a6	APN	9	105,644,398 (GRCm39)	critical splice donor site	probably null
IGL02129:Col6a6	APN	9	105,613,539 (GRCm39)	splice site	probably benign
IGL02201:Col6a6	APN	9	105,658,194 (GRCm39)	missense	probably damaging	1.00
IGL02335:Col6a6	APN	9	105,661,300 (GRCm39)	missense	probably damaging	1.00
IGL02541:Col6a6	APN	9	105,609,415 (GRCm39)	missense	probably benign	0.05
IGL02574:Col6a6	APN	9	105,659,390 (GRCm39)	missense	probably damaging	1.00
IGL02649:Col6a6	APN	9	105,604,369 (GRCm39)	critical splice donor site	probably null
IGL02852:Col6a6	APN	9	105,661,272 (GRCm39)	missense	probably damaging	0.99
IGL03278:Col6a6	APN	9	105,586,651 (GRCm39)	missense	probably benign	0.01
IGL03327:Col6a6	APN	9	105,644,433 (GRCm39)	missense	possibly damaging	0.90
PIT4519001:Col6a6	UTSW	9	105,609,462 (GRCm39)	missense	probably benign	0.23
R0042:Col6a6	UTSW	9	105,657,896 (GRCm39)	missense	possibly damaging	0.89
R0046:Col6a6	UTSW	9	105,626,047 (GRCm39)	splice site	probably benign
R0066:Col6a6	UTSW	9	105,579,412 (GRCm39)	missense	probably damaging	0.99
R0066:Col6a6	UTSW	9	105,579,412 (GRCm39)	missense	probably damaging	0.99
R0140:Col6a6	UTSW	9	105,579,474 (GRCm39)	missense	probably damaging	1.00
R0281:Col6a6	UTSW	9	105,661,315 (GRCm39)	missense	probably benign	0.13
R0382:Col6a6	UTSW	9	105,632,754 (GRCm39)	missense	probably damaging	0.98
R0389:Col6a6	UTSW	9	105,661,403 (GRCm39)	missense	probably benign	0.02
R0421:Col6a6	UTSW	9	105,661,405 (GRCm39)	missense	probably benign	0.02
R0502:Col6a6	UTSW	9	105,644,550 (GRCm39)	missense	probably benign	0.04
R0503:Col6a6	UTSW	9	105,644,550 (GRCm39)	missense	probably benign	0.04
R0600:Col6a6	UTSW	9	105,638,639 (GRCm39)	missense	probably damaging	1.00
R0626:Col6a6	UTSW	9	105,654,943 (GRCm39)	missense	probably benign	0.45
R0629:Col6a6	UTSW	9	105,604,364 (GRCm39)	splice site	probably benign
R0690:Col6a6	UTSW	9	105,586,685 (GRCm39)	missense	probably benign	0.01
R1155:Col6a6	UTSW	9	105,659,289 (GRCm39)	missense	possibly damaging	0.64
R1245:Col6a6	UTSW	9	105,626,109 (GRCm39)	missense	possibly damaging	0.62
R1253:Col6a6	UTSW	9	105,651,502 (GRCm39)	missense	probably null	0.98
R1263:Col6a6	UTSW	9	105,586,688 (GRCm39)	missense	probably benign	0.01
R1296:Col6a6	UTSW	9	105,658,290 (GRCm39)	missense	probably damaging	1.00
R1556:Col6a6	UTSW	9	105,586,672 (GRCm39)	missense	possibly damaging	0.82
R1600:Col6a6	UTSW	9	105,655,274 (GRCm39)	missense	probably damaging	1.00
R1612:Col6a6	UTSW	9	105,654,748 (GRCm39)	missense	probably damaging	1.00
R1613:Col6a6	UTSW	9	105,609,410 (GRCm39)	critical splice donor site	probably null
R1830:Col6a6	UTSW	9	105,579,469 (GRCm39)	missense	probably damaging	0.99
R1858:Col6a6	UTSW	9	105,658,301 (GRCm39)	missense	probably damaging	1.00
R1897:Col6a6	UTSW	9	105,662,943 (GRCm39)	missense	possibly damaging	0.74
R1944:Col6a6	UTSW	9	105,586,583 (GRCm39)	missense	probably damaging	1.00
R2366:Col6a6	UTSW	9	105,632,893 (GRCm39)	missense	probably damaging	1.00
R2484:Col6a6	UTSW	9	105,658,003 (GRCm39)	missense	probably damaging	0.98
R3079:Col6a6	UTSW	9	105,631,422 (GRCm39)	missense	probably benign	0.01
R3176:Col6a6	UTSW	9	105,663,429 (GRCm39)	missense	probably benign	0.01
R3276:Col6a6	UTSW	9	105,663,429 (GRCm39)	missense	probably benign	0.01
R3429:Col6a6	UTSW	9	105,655,166 (GRCm39)	missense	probably damaging	1.00
R3716:Col6a6	UTSW	9	105,659,373 (GRCm39)	missense	probably damaging	0.98
R3809:Col6a6	UTSW	9	105,657,891 (GRCm39)	missense	probably damaging	1.00
R3978:Col6a6	UTSW	9	105,576,078 (GRCm39)	missense	probably damaging	0.98
R4087:Col6a6	UTSW	9	105,661,155 (GRCm39)	missense	possibly damaging	0.68
R4382:Col6a6	UTSW	9	105,660,889 (GRCm39)	missense	probably damaging	1.00
R4516:Col6a6	UTSW	9	105,576,148 (GRCm39)	missense	possibly damaging	0.64
R4666:Col6a6	UTSW	9	105,644,541 (GRCm39)	missense	possibly damaging	0.93
R4905:Col6a6	UTSW	9	105,644,623 (GRCm39)	missense	probably damaging	1.00
R4923:Col6a6	UTSW	9	105,666,147 (GRCm39)	missense	probably damaging	1.00
R4951:Col6a6	UTSW	9	105,644,397 (GRCm39)	critical splice donor site	probably null
R5002:Col6a6	UTSW	9	105,663,292 (GRCm39)	missense	probably benign	0.00
R5111:Col6a6	UTSW	9	105,586,673 (GRCm39)	missense	possibly damaging	0.70
R5205:Col6a6	UTSW	9	105,659,232 (GRCm39)	missense	probably damaging	0.99
R5399:Col6a6	UTSW	9	105,586,306 (GRCm39)	missense	possibly damaging	0.50
R5475:Col6a6	UTSW	9	105,651,537 (GRCm39)	missense	probably null	0.79
R5491:Col6a6	UTSW	9	105,615,435 (GRCm39)	missense	probably damaging	0.98
R5758:Col6a6	UTSW	9	105,638,717 (GRCm39)	critical splice acceptor site	probably null
R5934:Col6a6	UTSW	9	105,644,274 (GRCm39)	missense	probably damaging	1.00
R6059:Col6a6	UTSW	9	105,661,116 (GRCm39)	missense	probably damaging	1.00
R6284:Col6a6	UTSW	9	105,604,426 (GRCm39)	splice site	probably null
R6425:Col6a6	UTSW	9	105,576,064 (GRCm39)	missense	probably benign	0.21
R6464:Col6a6	UTSW	9	105,666,152 (GRCm39)	start codon destroyed	probably null	0.60
R6469:Col6a6	UTSW	9	105,575,890 (GRCm39)	missense	probably damaging	0.97
R6520:Col6a6	UTSW	9	105,663,024 (GRCm39)	missense	possibly damaging	0.89
R6552:Col6a6	UTSW	9	105,576,112 (GRCm39)	missense	probably damaging	1.00
R6750:Col6a6	UTSW	9	105,660,879 (GRCm39)	missense	probably damaging	1.00
R6813:Col6a6	UTSW	9	105,661,140 (GRCm39)	missense	probably benign	0.32
R7032:Col6a6	UTSW	9	105,644,707 (GRCm39)	missense	probably damaging	0.96
R7260:Col6a6	UTSW	9	105,661,168 (GRCm39)	missense	probably benign	0.00
R7472:Col6a6	UTSW	9	105,659,622 (GRCm39)	missense	probably damaging	1.00
R7541:Col6a6	UTSW	9	105,644,523 (GRCm39)	missense	probably damaging	1.00
R7640:Col6a6	UTSW	9	105,662,943 (GRCm39)	missense	possibly damaging	0.74
R7645:Col6a6	UTSW	9	105,644,397 (GRCm39)	critical splice donor site	probably null
R7716:Col6a6	UTSW	9	105,661,102 (GRCm39)	missense	possibly damaging	0.84
R7866:Col6a6	UTSW	9	105,566,760 (GRCm39)	missense	probably damaging	0.96
R7938:Col6a6	UTSW	9	105,657,883 (GRCm39)	nonsense	probably null
R8016:Col6a6	UTSW	9	105,644,727 (GRCm39)	missense	possibly damaging	0.73
R8043:Col6a6	UTSW	9	105,576,219 (GRCm39)	missense	probably damaging	0.98
R8073:Col6a6	UTSW	9	105,659,146 (GRCm39)	missense	probably benign	0.01
R8082:Col6a6	UTSW	9	105,661,129 (GRCm39)	nonsense	probably null
R8243:Col6a6	UTSW	9	105,576,468 (GRCm39)	missense	probably damaging	1.00
R8306:Col6a6	UTSW	9	105,661,272 (GRCm39)	missense	probably damaging	0.96
R8324:Col6a6	UTSW	9	105,632,853 (GRCm39)	missense	probably benign	0.25
R8384:Col6a6	UTSW	9	105,632,893 (GRCm39)	missense	probably damaging	1.00
R8400:Col6a6	UTSW	9	105,651,995 (GRCm39)	missense	probably damaging	1.00
R8523:Col6a6	UTSW	9	105,651,987 (GRCm39)	missense	possibly damaging	0.71
R8842:Col6a6	UTSW	9	105,655,166 (GRCm39)	missense	probably damaging	1.00
R8862:Col6a6	UTSW	9	105,663,348 (GRCm39)	missense	probably damaging	1.00
R8907:Col6a6	UTSW	9	105,644,528 (GRCm39)	missense	probably damaging	0.99
R9021:Col6a6	UTSW	9	105,586,745 (GRCm39)	missense	possibly damaging	0.85
R9088:Col6a6	UTSW	9	105,661,276 (GRCm39)	missense	probably damaging	0.99
R9178:Col6a6	UTSW	9	105,659,169 (GRCm39)	missense	probably benign	0.30
R9225:Col6a6	UTSW	9	105,659,437 (GRCm39)	missense	possibly damaging	0.75
R9340:Col6a6	UTSW	9	105,651,757 (GRCm39)	missense	probably damaging	1.00
R9342:Col6a6	UTSW	9	105,663,172 (GRCm39)	missense	probably benign	0.00
R9360:Col6a6	UTSW	9	105,644,686 (GRCm39)	missense	probably benign	0.00
R9368:Col6a6	UTSW	9	105,663,300 (GRCm39)	missense	possibly damaging	0.48
R9398:Col6a6	UTSW	9	105,651,825 (GRCm39)	missense	probably benign	0.40
R9450:Col6a6	UTSW	9	105,661,373 (GRCm39)	missense	probably benign
R9454:Col6a6	UTSW	9	105,661,059 (GRCm39)	missense	probably damaging	0.99
R9458:Col6a6	UTSW	9	105,586,361 (GRCm39)	missense	probably benign	0.01
R9563:Col6a6	UTSW	9	105,572,952 (GRCm39)	missense	probably benign	0.02
R9568:Col6a6	UTSW	9	105,657,926 (GRCm39)	missense	possibly damaging	0.58
R9613:Col6a6	UTSW	9	105,616,401 (GRCm39)	missense	probably benign	0.07
R9664:Col6a6	UTSW	9	105,658,254 (GRCm39)	missense	probably benign	0.11
R9747:Col6a6	UTSW	9	105,661,239 (GRCm39)	missense	probably benign	0.29
R9760:Col6a6	UTSW	9	105,659,253 (GRCm39)	missense	probably damaging	0.99
X0022:Col6a6	UTSW	9	105,576,531 (GRCm39)	missense	probably damaging	1.00
Z1176:Col6a6	UTSW	9	105,658,151 (GRCm39)	missense	probably damaging	1.00
Z1177:Col6a6	UTSW	9	105,666,094 (GRCm39)	missense	probably null	0.24
Z1177:Col6a6	UTSW	9	105,605,454 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTCTACCGAGCCCATTCAACAG -3'
(R):5'- CAAGACCTCTTACGTGCCATCAGC -3'

Sequencing Primer
(F):5'- gaggctgaaagagggctac -3'
(R):5'- AGCTCCCTCAATGGGGTAAG -3'

Posted On

2013-04-16