Mutagenetix > Incidental Mutation

Incidental Mutation 'R0398:Col6a1'

32137

Institutional Source

Beutler Lab

Gene Symbol

Col6a1

Ensembl Gene

ENSMUSG00000001119

Gene Name

collagen, type VI, alpha 1

Synonyms

Col6a-1

MMRRC Submission

038603-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R0398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76544626-76561878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76545952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 840 (H840R)

Ref Sequence

ENSEMBL: ENSMUSP00000001147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001147]

AlphaFold

Q04857

Predicted Effect

unknown
Transcript: ENSMUST00000001147
AA Change: H840R

SMART Domains

Protein: ENSMUSP00000001147
Gene: ENSMUSG00000001119
AA Change: H840R

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
VWA	34	232	9.55e-29	SMART
Pfam:Collagen	252	312	5.6e-11	PFAM
Pfam:Collagen	292	367	2e-9	PFAM
Pfam:Collagen	345	423	3.6e-8	PFAM
Pfam:Collagen	448	515	1.1e-8	PFAM
Pfam:Collagen	499	563	1.9e-9	PFAM
low complexity region	571	590	N/A	INTRINSIC
VWA	612	798	8.57e-31	SMART
VWA	824	1005	2.6e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137599

Meta Mutation Damage Score

0.0702

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.8%
20x: 83.2%

Validation Efficiency

100% (81/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for this targeted mutation display a myopathic disorder that resembles human Bethlem myopathy. Loss of contractile strength in affected muscles is associated with an unexpected latent mitochondrial dysfunction in myofibers, as well as spontaneous apoptosis. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted(5)

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,117,010 (GRCm39)	Q546R	probably null	Het
Acr	T	G	15: 89,458,144 (GRCm39)	V275G	probably damaging	Het
Adam5	A	G	8: 25,303,448 (GRCm39)	Y160H	probably benign	Het
Adcy5	T	A	16: 35,089,438 (GRCm39)	M545K	probably damaging	Het
Aoc2	A	G	11: 101,216,379 (GRCm39)	E154G	possibly damaging	Het
Atg2a	T	G	19: 6,296,608 (GRCm39)	L338R	probably damaging	Het
Atp2a1	T	C	7: 126,049,590 (GRCm39)		probably benign	Het
Bbs7	A	G	3: 36,644,866 (GRCm39)	S436P	probably benign	Het
Bpnt1	T	C	1: 185,070,355 (GRCm39)	Y16H	probably benign	Het
Cbll1	A	T	12: 31,542,091 (GRCm39)	F90Y	probably damaging	Het
Cbs	G	T	17: 31,836,216 (GRCm39)	Q411K	probably benign	Het
Cdca2	A	C	14: 67,935,411 (GRCm39)	F435V	probably damaging	Het
Cdh13	T	G	8: 120,040,786 (GRCm39)	S664A	probably damaging	Het
Cdk17	T	A	10: 93,073,702 (GRCm39)	V438E	probably benign	Het
Cep295	T	C	9: 15,266,032 (GRCm39)	D40G	possibly damaging	Het
Cpa1	A	G	6: 30,645,250 (GRCm39)	T409A	probably benign	Het
Crlf1	G	A	8: 70,951,739 (GRCm39)		probably benign	Het
E2f2	T	A	4: 135,907,855 (GRCm39)	I184N	probably damaging	Het
Ehbp1	T	C	11: 22,045,886 (GRCm39)	D596G	probably damaging	Het
Elapor2	A	G	5: 9,495,367 (GRCm39)	R724G	probably benign	Het
Ets2	A	G	16: 95,517,267 (GRCm39)	Y333C	probably damaging	Het
Fam178b	A	G	1: 36,671,487 (GRCm39)		probably benign	Het
Fndc3b	A	G	3: 27,515,928 (GRCm39)	V626A	probably benign	Het
Gart	G	T	16: 91,436,337 (GRCm39)	A140E	probably damaging	Het
Gbp7	T	C	3: 142,251,274 (GRCm39)	S477P	possibly damaging	Het
Gm16380	T	C	9: 53,791,453 (GRCm39)		noncoding transcript	Het
Hmcn1	C	A	1: 150,674,565 (GRCm39)	R579M	possibly damaging	Het
Hoxb8	A	C	11: 96,173,937 (GRCm39)	H50P	probably damaging	Het
Hspa4	C	T	11: 53,163,706 (GRCm39)		probably null	Het
Hspa4l	G	A	3: 40,711,429 (GRCm39)		probably benign	Het
Hyal4	A	T	6: 24,756,670 (GRCm39)	Y296F	probably damaging	Het
Igsf8	C	A	1: 172,145,066 (GRCm39)	T131K	probably damaging	Het
Ilvbl	C	T	10: 78,415,373 (GRCm39)	P298L	probably damaging	Het
Jak2	T	A	19: 29,259,788 (GRCm39)	I229N	possibly damaging	Het
Kif1b	T	C	4: 149,288,688 (GRCm39)	D1205G	possibly damaging	Het
Lrrc63	T	C	14: 75,363,910 (GRCm39)	R74G	probably benign	Het
Lvrn	A	G	18: 47,013,760 (GRCm39)	T481A	probably benign	Het
Macf1	T	A	4: 123,244,810 (GRCm39)	T7312S	probably damaging	Het
Magel2	C	T	7: 62,030,299 (GRCm39)	Q1068*	probably null	Het
Mrpl3	A	G	9: 104,941,302 (GRCm39)	Y203C	probably damaging	Het
Nek2	T	A	1: 191,559,473 (GRCm39)	I326N	probably benign	Het
Nlrc4	A	C	17: 74,752,915 (GRCm39)	N489K	probably damaging	Het
Nlrp4f	A	T	13: 65,342,732 (GRCm39)	S304R	possibly damaging	Het
Ogfr	C	G	2: 180,235,492 (GRCm39)	R189G	probably damaging	Het
Or52b4i	T	A	7: 102,191,899 (GRCm39)	L252H	probably damaging	Het
Or5p78	T	A	7: 108,212,162 (GRCm39)	I216N	probably benign	Het
Or5w8	A	T	2: 87,688,401 (GRCm39)	N294I	probably damaging	Het
Orm3	A	G	4: 63,275,885 (GRCm39)	S145G	probably benign	Het
Pclo	A	G	5: 14,731,716 (GRCm39)	E3406G	unknown	Het
Pcx	T	G	19: 4,651,638 (GRCm39)	F4C	probably benign	Het
Pgd	C	A	4: 149,238,339 (GRCm39)	G364V	probably damaging	Het
Pla2g12a	C	A	3: 129,684,045 (GRCm39)	D102E	probably benign	Het
Pnpo	A	T	11: 96,833,253 (GRCm39)	C82*	probably null	Het
Prdm1	T	C	10: 44,315,805 (GRCm39)	N792S	probably damaging	Het
Prim2	A	T	1: 33,523,757 (GRCm39)		probably benign	Het
Proca1	C	A	11: 78,096,094 (GRCm39)	P242Q	probably benign	Het
Psmc5	A	G	11: 106,152,370 (GRCm39)	N129S	probably benign	Het
Ptchd4	A	G	17: 42,688,150 (GRCm39)	T231A	possibly damaging	Het
Qrfpr	C	T	3: 36,235,201 (GRCm39)		probably benign	Het
Rab44	G	A	17: 29,364,344 (GRCm39)		probably benign	Het
Racgap1	T	C	15: 99,526,508 (GRCm39)		probably benign	Het
Rapgef4	A	G	2: 71,861,385 (GRCm39)	E25G	probably damaging	Het
Rpl8	G	C	15: 76,789,246 (GRCm39)		probably benign	Het
Samd12	G	A	15: 53,583,116 (GRCm39)	P73S	possibly damaging	Het
Samd9l	T	A	6: 3,374,502 (GRCm39)	N920Y	probably damaging	Het
Sdk1	T	C	5: 141,948,476 (GRCm39)	V607A	probably benign	Het
Slc25a19	A	G	11: 115,508,401 (GRCm39)	Y196H	probably damaging	Het
Slc39a3	A	T	10: 80,869,621 (GRCm39)	M12K	possibly damaging	Het
Slc5a4a	T	C	10: 76,018,556 (GRCm39)	I501T	possibly damaging	Het
Sp4	A	T	12: 118,262,408 (GRCm39)	V546D	possibly damaging	Het
Ssh3	C	T	19: 4,313,727 (GRCm39)	V511M	possibly damaging	Het
Stard9	T	G	2: 120,526,788 (GRCm39)	V1015G	probably benign	Het
Thoc5	G	T	11: 4,871,978 (GRCm39)	V516F	possibly damaging	Het
Ttc21a	T	A	9: 119,783,628 (GRCm39)	I570N	probably damaging	Het
Ttc4	T	C	4: 106,524,770 (GRCm39)		probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Yipf3	A	G	17: 46,562,411 (GRCm39)	E298G	possibly damaging	Het
Zbtb34	C	A	2: 33,301,060 (GRCm39)	E494*	probably null	Het
Zfhx3	A	G	8: 109,677,878 (GRCm39)	Y2976C	probably damaging	Het

Other mutations in Col6a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Col6a1	APN	10	76,546,813 (GRCm39)	missense	unknown
IGL01943:Col6a1	APN	10	76,554,957 (GRCm39)	critical splice donor site	probably null
IGL02178:Col6a1	APN	10	76,546,909 (GRCm39)	missense	unknown
IGL02928:Col6a1	APN	10	76,545,500 (GRCm39)	missense	possibly damaging	0.93
IGL03162:Col6a1	APN	10	76,553,885 (GRCm39)	splice site	probably benign
P0005:Col6a1	UTSW	10	76,553,163 (GRCm39)	splice site	probably benign
R0631:Col6a1	UTSW	10	76,545,569 (GRCm39)	missense	probably benign	0.03
R0698:Col6a1	UTSW	10	76,552,114 (GRCm39)	missense	unknown
R0699:Col6a1	UTSW	10	76,552,114 (GRCm39)	missense	unknown
R0848:Col6a1	UTSW	10	76,549,458 (GRCm39)	critical splice donor site	probably null
R1053:Col6a1	UTSW	10	76,556,800 (GRCm39)	missense	probably damaging	0.99
R1235:Col6a1	UTSW	10	76,548,158 (GRCm39)	missense	unknown
R1480:Col6a1	UTSW	10	76,545,752 (GRCm39)	missense	unknown
R1854:Col6a1	UTSW	10	76,557,783 (GRCm39)	missense	probably damaging	1.00
R1995:Col6a1	UTSW	10	76,557,790 (GRCm39)	missense	probably damaging	1.00
R2082:Col6a1	UTSW	10	76,545,430 (GRCm39)	missense	probably damaging	0.98
R2122:Col6a1	UTSW	10	76,557,332 (GRCm39)	missense	probably benign	0.10
R2411:Col6a1	UTSW	10	76,546,922 (GRCm39)	missense	unknown
R3236:Col6a1	UTSW	10	76,547,154 (GRCm39)	missense	unknown
R3417:Col6a1	UTSW	10	76,548,203 (GRCm39)	missense	unknown
R3832:Col6a1	UTSW	10	76,546,951 (GRCm39)	missense	unknown
R3843:Col6a1	UTSW	10	76,547,175 (GRCm39)	missense	unknown
R3903:Col6a1	UTSW	10	76,547,175 (GRCm39)	missense	unknown
R3904:Col6a1	UTSW	10	76,547,175 (GRCm39)	missense	unknown
R4409:Col6a1	UTSW	10	76,557,334 (GRCm39)	missense	probably benign	0.17
R4418:Col6a1	UTSW	10	76,554,239 (GRCm39)	nonsense	probably null
R4568:Col6a1	UTSW	10	76,555,031 (GRCm39)	intron	probably benign
R4579:Col6a1	UTSW	10	76,547,191 (GRCm39)	missense	unknown
R4661:Col6a1	UTSW	10	76,550,506 (GRCm39)	missense	unknown
R4945:Col6a1	UTSW	10	76,548,106 (GRCm39)	missense	unknown
R4958:Col6a1	UTSW	10	76,559,339 (GRCm39)	missense	probably damaging	1.00
R5101:Col6a1	UTSW	10	76,545,740 (GRCm39)	missense	unknown
R5440:Col6a1	UTSW	10	76,559,288 (GRCm39)	missense	probably damaging	1.00
R5924:Col6a1	UTSW	10	76,554,205 (GRCm39)	critical splice donor site	probably null
R6030:Col6a1	UTSW	10	76,545,700 (GRCm39)	missense	unknown
R6030:Col6a1	UTSW	10	76,545,700 (GRCm39)	missense	unknown
R6366:Col6a1	UTSW	10	76,546,804 (GRCm39)	missense	unknown
R6435:Col6a1	UTSW	10	76,546,957 (GRCm39)	missense	unknown
R6718:Col6a1	UTSW	10	76,560,884 (GRCm39)	missense	probably damaging	1.00
R7014:Col6a1	UTSW	10	76,557,277 (GRCm39)	missense	probably damaging	1.00
R7117:Col6a1	UTSW	10	76,560,843 (GRCm39)	missense	probably damaging	1.00
R7153:Col6a1	UTSW	10	76,546,175 (GRCm39)	splice site	probably null
R7183:Col6a1	UTSW	10	76,552,093 (GRCm39)	critical splice donor site	probably null
R7244:Col6a1	UTSW	10	76,553,242 (GRCm39)	nonsense	probably null
R7625:Col6a1	UTSW	10	76,549,760 (GRCm39)	missense	unknown
R7741:Col6a1	UTSW	10	76,545,743 (GRCm39)	missense	unknown
R7774:Col6a1	UTSW	10	76,545,710 (GRCm39)	missense	unknown
R7834:Col6a1	UTSW	10	76,545,762 (GRCm39)	missense	unknown
R8145:Col6a1	UTSW	10	76,559,305 (GRCm39)	missense	possibly damaging	0.46
R8177:Col6a1	UTSW	10	76,560,863 (GRCm39)	missense	probably damaging	1.00
R8932:Col6a1	UTSW	10	76,552,593 (GRCm39)	missense	unknown
R9060:Col6a1	UTSW	10	76,557,711 (GRCm39)	missense	probably benign	0.21
R9411:Col6a1	UTSW	10	76,547,487 (GRCm39)	missense	unknown
RF019:Col6a1	UTSW	10	76,547,449 (GRCm39)	missense	unknown
X0010:Col6a1	UTSW	10	76,559,372 (GRCm39)	missense	probably damaging	1.00
X0067:Col6a1	UTSW	10	76,545,809 (GRCm39)	missense	unknown
Z1088:Col6a1	UTSW	10	76,545,393 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGTAAGAACTGAAGAGCCGCCC -3'
(R):5'- ATCGTCATAGGCAGCCGACCAAAG -3'

Sequencing Primer
(F):5'- CGACCTGGCTGTTGCTG -3'
(R):5'- CCGGATTATACCTGTCCAAGTGAG -3'

Posted On

2013-04-24