Mutagenetix > Incidental Mutation

Incidental Mutation 'R6425:Col6a6'

518295

Institutional Source

Beutler Lab

Gene Symbol

Col6a6

Ensembl Gene

ENSMUSG00000043719

Gene Name

collagen, type VI, alpha 6

Synonyms

E330026B02Rik

MMRRC Submission

044564-MU

Accession Numbers

Essential gene?

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

Stock #

R6425 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105566616-105705413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105576064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2099 (T2099A)

Ref Sequence

ENSEMBL: ENSMUSP00000125765 (fasta)

Gene Model

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

AlphaFold

Q8C6K9

Predicted Effect

probably benign
Transcript: ENSMUST00000098441
AA Change: T2099A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000096040
Gene: ENSMUSG00000043719
AA Change: T2099A

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

probably benign
Transcript: ENSMUST00000166431
AA Change: T2099A

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125765
Gene: ENSMUSG00000043719
AA Change: T2099A

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,220,058 (GRCm39)	T3A	possibly damaging	Het
Ash1l	A	G	3: 88,891,087 (GRCm39)	T989A	probably damaging	Het
Atp6v0a2	T	A	5: 124,790,194 (GRCm39)	L459Q	probably damaging	Het
Atp6v0a4	A	T	6: 38,027,446 (GRCm39)	V788D	possibly damaging	Het
Auh	G	A	13: 52,995,080 (GRCm39)	R162C	probably damaging	Het
Begain	C	A	12: 108,999,320 (GRCm39)	G689C	probably damaging	Het
Brcc3dc	A	C	10: 108,535,757 (GRCm39)	M66R	possibly damaging	Het
Cd300lg	T	C	11: 101,937,749 (GRCm39)	F193S	probably benign	Het
Cenpf	T	G	1: 189,392,095 (GRCm39)	N579T	probably benign	Het
Cfap65	T	C	1: 74,966,868 (GRCm39)	H273R	probably benign	Het
Dock1	A	G	7: 134,765,110 (GRCm39)	K1701E	possibly damaging	Het
Dtl	T	C	1: 191,278,735 (GRCm39)	I376V	probably benign	Het
F830045P16Rik	C	A	2: 129,302,500 (GRCm39)	C364F	probably damaging	Het
Fancl	C	T	11: 26,349,680 (GRCm39)	L63F	probably damaging	Het
Gli2	A	T	1: 118,763,624 (GRCm39)	L1509*	probably null	Het
Glyr1	A	T	16: 4,854,350 (GRCm39)		probably null	Het
Igkv6-32	A	T	6: 70,051,284 (GRCm39)	M24K	probably damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Klhl18	T	C	9: 110,275,749 (GRCm39)	E133G	possibly damaging	Het
Lgals4	A	T	7: 28,533,885 (GRCm39)	K20*	probably null	Het
Myo9b	A	G	8: 71,786,272 (GRCm39)	D646G	probably damaging	Het
Pcdhb3	T	C	18: 37,435,528 (GRCm39)	L498P	possibly damaging	Het
Pcdhgb4	T	C	18: 37,854,640 (GRCm39)	V345A	possibly damaging	Het
Pdc	T	C	1: 150,209,123 (GRCm39)	V202A	probably benign	Het
Pfas	T	C	11: 68,881,897 (GRCm39)	I929M	probably benign	Het
Plxna1	G	T	6: 89,311,647 (GRCm39)	R953S	probably benign	Het
Pnpla5	T	C	15: 84,006,836 (GRCm39)		probably null	Het
Psmd1	T	C	1: 85,998,350 (GRCm39)		probably null	Het
Rbm47	C	T	5: 66,180,159 (GRCm39)	G452S	probably damaging	Het
Reln	G	A	5: 22,116,018 (GRCm39)	Q2997*	probably null	Het
Rrn3	A	G	16: 13,629,465 (GRCm39)	T594A	probably benign	Het
Slc25a35	G	A	11: 68,859,591 (GRCm39)	A35T	possibly damaging	Het
Slc33a1	A	G	3: 63,871,484 (GRCm39)	V43A	probably benign	Het
Sorcs3	T	C	19: 48,752,746 (GRCm39)		probably null	Het
Tbk1	A	G	10: 121,399,867 (GRCm39)	M319T	probably benign	Het
Tmem132c	T	A	5: 127,630,329 (GRCm39)	M622K	possibly damaging	Het
Tshz1	A	T	18: 84,033,688 (GRCm39)	F240Y	probably damaging	Het
Ube2b	A	T	11: 51,882,244 (GRCm39)	L73*	probably null	Het
Vipas39	A	G	12: 87,288,063 (GRCm39)	V449A	probably damaging	Het
Zfp870	T	C	17: 33,102,045 (GRCm39)	N429S	possibly 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
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
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
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'- TTTTCTGACTTACGCCTGATGG -3'
(R):5'- GCAGTAAGCGCCTCATGAAG -3'

Sequencing Primer
(F):5'- CGCCTGATGGAGTTTATAAAAGAC -3'
(R):5'- TCATGAAGAGACACGTGGATC -3'

Posted On

2018-05-24