Mutagenetix > Incidental Mutation

Incidental Mutation 'R3809:Col6a6'

275112

Institutional Source

Beutler Lab

Gene Symbol

Col6a6

Ensembl Gene

ENSMUSG00000043719

Gene Name

collagen, type VI, alpha 6

Synonyms

E330026B02Rik

MMRRC Submission

040766-MU

Accession Numbers

Essential gene?

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

Stock #

R3809 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105566616-105705413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 105657891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 774 (V774L)

Ref Sequence

ENSEMBL: ENSMUSP00000096040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060896] [ENSMUST00000098441] [ENSMUST00000166431]

AlphaFold

Q8C6K9

Predicted Effect

probably damaging
Transcript: ENSMUST00000060896
AA Change: V774L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060840
Gene: ENSMUSG00000043719
AA Change: V774L

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably damaging
Transcript: ENSMUST00000098441
AA Change: V774L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: V774L

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: V774L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: V774L

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: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
3425401B19Rik	T	C	14: 32,385,650 (GRCm39)	Y105C	possibly damaging	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
Apol7e	A	T	15: 77,602,262 (GRCm39)	T287S	probably benign	Het
Arhgap12	A	T	18: 6,037,057 (GRCm39)	N561K	probably benign	Het
Armc3	G	T	2: 19,305,476 (GRCm39)	A757S	probably damaging	Het
Baz2b	A	T	2: 59,799,240 (GRCm39)	S295T	probably benign	Het
Brd4	T	A	17: 32,430,244 (GRCm39)	K686N	possibly damaging	Het
Btnl6	T	C	17: 34,727,202 (GRCm39)	T443A	probably benign	Het
Cacna1g	T	C	11: 94,306,922 (GRCm39)	T1801A	probably damaging	Het
Celsr2	G	A	3: 108,310,555 (GRCm39)	T1509I	possibly damaging	Het
Cers1	A	G	8: 70,782,660 (GRCm39)	D10G	possibly damaging	Het
Cntnap3	A	G	13: 64,929,618 (GRCm39)	V527A	probably damaging	Het
Cog1	G	T	11: 113,545,836 (GRCm39)	M370I	probably benign	Het
Csf1r	T	A	18: 61,245,836 (GRCm39)	S264R	probably benign	Het
Ctnna2	A	T	6: 76,931,740 (GRCm39)	V620D	probably damaging	Het
Eif2b4	A	G	5: 31,348,512 (GRCm39)	S88P	possibly damaging	Het
Frmd4b	G	A	6: 97,300,690 (GRCm39)	L214F	possibly damaging	Het
Fstl1	T	A	16: 37,647,113 (GRCm39)	L161Q	probably damaging	Het
Hdac1	A	G	4: 129,418,113 (GRCm39)	F94S	probably damaging	Het
Hlf	T	C	11: 90,278,929 (GRCm39)	D45G	probably benign	Het
Hps3	A	T	3: 20,072,976 (GRCm39)	M501K	probably damaging	Het
Ighv14-4	A	G	12: 114,140,174 (GRCm39)	Y79H	probably damaging	Het
Ip6k1	T	A	9: 107,923,086 (GRCm39)	V406D	probably damaging	Het
Iqcf1	T	C	9: 106,379,077 (GRCm39)	S29P	probably benign	Het
Itga11	A	G	9: 62,678,664 (GRCm39)	T944A	probably benign	Het
Kcnj12	A	G	11: 60,961,103 (GRCm39)	N467S	probably benign	Het
Klhdc3	T	A	17: 46,988,858 (GRCm39)	N111Y	possibly damaging	Het
Kmt2c	T	C	5: 25,614,136 (GRCm39)	R195G	possibly damaging	Het
Lin9	A	G	1: 180,486,676 (GRCm39)	I81V	probably null	Het
Lrp2	T	C	2: 69,331,892 (GRCm39)	D1621G	probably damaging	Het
Med15	C	T	16: 17,473,598 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,146,801 (GRCm39)	I2821T	possibly damaging	Het
Or14j6	T	C	17: 38,214,464 (GRCm39)	V9A	probably benign	Het
Or2a25	A	T	6: 42,889,271 (GRCm39)	K271N	probably damaging	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Or56b1	A	T	7: 104,285,540 (GRCm39)	I220L	possibly damaging	Het
Or8b3b	C	T	9: 38,584,159 (GRCm39)	V207I	probably benign	Het
Paxip1	A	G	5: 27,977,027 (GRCm39)		probably benign	Het
Pfas	T	C	11: 68,880,779 (GRCm39)		probably benign	Het
Pfdn1	C	T	18: 36,584,145 (GRCm39)	G63D	probably damaging	Het
Pgghg	T	C	7: 140,525,208 (GRCm39)	F405L	probably damaging	Het
Plcd3	T	C	11: 102,992,209 (GRCm39)	M50V	probably null	Het
Plekha8	C	A	6: 54,596,334 (GRCm39)	S198R	probably benign	Het
Ppp4c	C	T	7: 126,386,499 (GRCm39)	G166D	probably damaging	Het
Rassf2	T	C	2: 131,840,180 (GRCm39)		probably null	Het
Rnf217	T	A	10: 31,379,804 (GRCm39)	I473F	possibly damaging	Het
Sec16a	G	C	2: 26,331,825 (GRCm39)	N63K	possibly damaging	Het
Sik3	A	G	9: 46,130,784 (GRCm39)	D1240G	probably benign	Het
Slamf1	A	G	1: 171,625,745 (GRCm39)	D307G	probably null	Het
Slc2a3	A	G	6: 122,709,388 (GRCm39)	I337T	probably benign	Het
Tent4a	A	G	13: 69,661,115 (GRCm39)	V51A	probably damaging	Het
Tinag	C	T	9: 76,859,187 (GRCm39)	D474N	probably benign	Het
Ublcp1	A	G	11: 44,349,109 (GRCm39)	F242L	probably benign	Het
Ucp1	C	A	8: 84,017,270 (GRCm39)	A20D	probably damaging	Het
Ugt1a7c	C	T	1: 88,023,104 (GRCm39)	R88W	possibly damaging	Het
Wipf3	A	G	6: 54,458,780 (GRCm39)	D45G	probably damaging	Het
Zfp592	G	A	7: 80,674,280 (GRCm39)	A415T	probably benign	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
R0278:Col6a6	UTSW	9	105,644,487 (GRCm39)	missense	possibly damaging	0.87
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
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'- CTTAACTCCAAAGGTCAAAGGC -3'
(R):5'- AAACAACCTTGACGGGCAG -3'

Sequencing Primer
(F):5'- GTCAAAGGCACTAAAACAAACATTTC -3'
(R):5'- TCAGTACTTCAGTCCCGATAAGG -3'

Posted On

2015-04-02