Mutagenetix > Incidental Mutation

Incidental Mutation 'R1480:Col6a1'

164316

Institutional Source

Beutler Lab

Gene Symbol

Col6a1

Ensembl Gene

ENSMUSG00000001119

Gene Name

collagen, type VI, alpha 1

Synonyms

Col6a-1

MMRRC Submission

039533-MU

Accession Numbers

Essential gene?

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

Stock #

R1480 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

76544626-76561878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76545752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 907 (I907V)

Ref Sequence

ENSEMBL: ENSMUSP00000001147 (fasta)

Gene Model

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

AlphaFold

Q04857

Predicted Effect

unknown
Transcript: ENSMUST00000001147
AA Change: I907V

SMART Domains

Protein: ENSMUSP00000001147
Gene: ENSMUSG00000001119
AA Change: I907V

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,323,409 (GRCm39)	R126C	possibly damaging	Het
Abcb9	C	A	5: 124,216,889 (GRCm39)	A443S	probably benign	Het
Adcy3	A	G	12: 4,262,171 (GRCm39)	M1074V	probably damaging	Het
Adnp	A	G	2: 168,025,454 (GRCm39)	Y614H	probably damaging	Het
Agbl4	G	A	4: 111,423,914 (GRCm39)	M313I	possibly damaging	Het
AI987944	T	C	7: 41,024,343 (GRCm39)	D212G	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Aplp1	A	G	7: 30,135,448 (GRCm39)	S537P	probably benign	Het
Arap2	T	A	5: 62,826,472 (GRCm39)	R1031*	probably null	Het
Arid1a	A	G	4: 133,407,700 (GRCm39)	M2269T	unknown	Het
Ash1l	C	A	3: 88,892,359 (GRCm39)	P1413T	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
B3gnt5	A	T	16: 19,588,617 (GRCm39)	I279L	probably damaging	Het
Camkk2	T	C	5: 122,872,341 (GRCm39)		probably null	Het
Ccdc158	T	C	5: 92,796,903 (GRCm39)	K478E	probably damaging	Het
Ces1f	T	C	8: 94,000,782 (GRCm39)	I121V	probably benign	Het
Chad	A	T	11: 94,455,963 (GRCm39)		probably benign	Het
Cpe	T	A	8: 65,047,969 (GRCm39)	T432S	probably benign	Het
Csmd3	T	C	15: 47,595,325 (GRCm39)	T1941A	possibly damaging	Het
Dennd3	G	A	15: 73,404,695 (GRCm39)	V257I	probably benign	Het
Dnajc21	T	C	15: 10,460,037 (GRCm39)		probably null	Het
Dqx1	A	G	6: 83,036,433 (GRCm39)	R146G	possibly damaging	Het
Etf1	T	C	18: 35,042,276 (GRCm39)	E261G	probably damaging	Het
Fermt2	C	T	14: 45,699,244 (GRCm39)	V617I	possibly damaging	Het
Gabarap	T	C	11: 69,882,551 (GRCm39)	Y5H	probably damaging	Het
Gdap1	A	G	1: 17,215,781 (GRCm39)	Y29C	probably damaging	Het
Gimap5	A	G	6: 48,729,964 (GRCm39)	E178G	probably damaging	Het
Gpatch1	C	T	7: 35,002,763 (GRCm39)	G249E	probably damaging	Het
Gse1	T	G	8: 121,299,133 (GRCm39)		probably benign	Het
Kifc3	T	C	8: 95,836,515 (GRCm39)	D82G	probably damaging	Het
Kit	G	A	5: 75,797,977 (GRCm39)	D422N	probably benign	Het
Klhl28	A	T	12: 65,003,995 (GRCm39)	F173I	probably damaging	Het
Klk1b22	A	G	7: 43,766,278 (GRCm39)	D253G	possibly damaging	Het
Lias	T	A	5: 65,549,634 (GRCm39)	H39Q	probably benign	Het
Lrp1b	T	A	2: 40,793,401 (GRCm39)	D2504V	probably damaging	Het
Mgat5	A	T	1: 127,387,716 (GRCm39)	R557S	probably damaging	Het
Mrpl54	T	C	10: 81,101,489 (GRCm39)	T91A	probably benign	Het
Myh3	T	A	11: 66,984,371 (GRCm39)	D1069E	possibly damaging	Het
Nek1	T	A	8: 61,577,360 (GRCm39)		probably null	Het
Nfyc	A	C	4: 120,625,921 (GRCm39)		probably null	Het
Nol7	A	T	13: 43,552,104 (GRCm39)	E75V	probably damaging	Het
Nomo1	T	A	7: 45,710,337 (GRCm39)	V606E	probably damaging	Het
Npat	TGGTAAAA	T	9: 53,474,366 (GRCm39)		probably null	Het
Nt5c1b	A	G	12: 10,424,886 (GRCm39)	E142G	probably damaging	Het
Ogdh	A	T	11: 6,297,827 (GRCm39)		probably null	Het
Or1o4	A	G	17: 37,590,636 (GRCm39)	V225A	probably benign	Het
Parg	A	T	14: 31,931,585 (GRCm39)	K402*	probably null	Het
Patj	G	A	4: 98,357,819 (GRCm39)	G695E	probably damaging	Het
Pde3a	G	A	6: 141,433,300 (GRCm39)	S777N	probably benign	Het
Phactr2	G	A	10: 13,129,536 (GRCm39)	P174L	possibly damaging	Het
Phtf1	C	T	3: 103,894,750 (GRCm39)	R113*	probably null	Het
Pik3r4	G	T	9: 105,564,443 (GRCm39)	V1346L	probably benign	Het
Prkcb	T	C	7: 122,193,865 (GRCm39)	W525R	probably damaging	Het
Prl8a1	C	T	13: 27,758,055 (GRCm39)	R218H	possibly damaging	Het
Pum3	T	C	19: 27,376,310 (GRCm39)	E536G	probably benign	Het
Rb1	T	C	14: 73,500,042 (GRCm39)	N535S	probably benign	Het
Rbm7	G	T	9: 48,401,016 (GRCm39)	D237E	probably benign	Het
Ripor1	T	C	8: 106,342,180 (GRCm39)	V122A	probably damaging	Het
Sdhc	C	T	1: 170,973,370 (GRCm39)	R11H	probably benign	Het
Sema3c	A	G	5: 17,887,029 (GRCm39)	N360S	possibly damaging	Het
Serpinb5	T	A	1: 106,809,437 (GRCm39)	M281K	probably benign	Het
Serpinc1	A	G	1: 160,822,889 (GRCm39)	E210G	probably benign	Het
Shoc2	T	C	19: 53,976,202 (GRCm39)	S31P	probably benign	Het
Sult2a3	T	A	7: 13,856,836 (GRCm39)	N28I	possibly damaging	Het
Svil	C	T	18: 5,057,345 (GRCm39)	P598S	probably damaging	Het
Tacc3	G	A	5: 33,821,941 (GRCm39)	V234I	probably benign	Het
Tacr1	A	T	6: 82,469,511 (GRCm39)	M132L	possibly damaging	Het
Tas2r104	C	A	6: 131,662,257 (GRCm39)	V151F	probably benign	Het
Tbc1d10b	C	T	7: 126,802,950 (GRCm39)	S326N	probably benign	Het
Trim12c	C	T	7: 103,997,451 (GRCm39)	C35Y	probably damaging	Het
Trrap	T	C	5: 144,755,123 (GRCm39)	I2067T	probably benign	Het
Upk1a	T	C	7: 30,306,311 (GRCm39)	I152V	probably benign	Het
Vmn2r39	T	G	7: 9,017,955 (GRCm39)	T794P	probably damaging	Het
Wnk2	G	A	13: 49,210,708 (GRCm39)	P1704S	probably damaging	Het
Zfp609	T	C	9: 65,610,593 (GRCm39)	E790G	possibly damaging	Het
Zmym1	G	T	4: 126,942,405 (GRCm39)	T563K	probably damaging	Het
Zranb1	T	A	7: 132,551,745 (GRCm39)	F132Y	probably benign	Het
Zranb3	C	T	1: 128,019,599 (GRCm39)	A48T	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
R0398:Col6a1	UTSW	10	76,545,952 (GRCm39)	missense	unknown
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
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'- AGATCTCAATGCCTGCACGCTG -3'
(R):5'- GCTGACATCACCATCCTGCTAGAC -3'

Sequencing Primer
(F):5'- CTGGGCCTCCTGCACAG -3'
(R):5'- TGCTAGACAGCTCAGCCAG -3'

Posted On

2014-03-28