Mutagenetix > Incidental Mutation

Incidental Mutation 'R6030:Col6a1'

480344

Institutional Source

Beutler Lab

Gene Symbol

Col6a1

Ensembl Gene

ENSMUSG00000001119

Gene Name

collagen, type VI, alpha 1

Synonyms

Col6a-1

MMRRC Submission

044202-MU

Accession Numbers

Ncbi RefSeq: NM_009933.4; MGI: 88459

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R6030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76708792-76726168 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76709866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 924 (Y924C)

Ref Sequence

ENSEMBL: ENSMUSP00000001147 (fasta)

Gene Model

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

AlphaFold

Q04857

Predicted Effect

unknown
Transcript: ENSMUST00000001147
AA Change: Y924C

SMART Domains

Protein: ENSMUSP00000001147
Gene: ENSMUSG00000001119
AA Change: Y924C

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: 99.9%
3x: 99.4%
10x: 96.1%
20x: 86.0%

Validation Efficiency

MGI Phenotype

Strain: 2153356
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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,255,733	W59R	probably damaging	Het
Abca16	A	G	7: 120,533,798	N1317D	probably benign	Het
Abhd8	T	A	8: 71,458,150	Y338F	possibly damaging	Het
Actg2	G	T	6: 83,516,364	N297K	probably damaging	Het
Agap1	A	G	1: 89,630,434	D148G	probably damaging	Het
Alox12	T	C	11: 70,254,591	D52G	possibly damaging	Het
Ano5	T	A	7: 51,574,825	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,117,905		probably null	Het
Atp4a	G	C	7: 30,722,516	E826Q	probably damaging	Het
Bbs7	T	C	3: 36,602,911	D256G	probably damaging	Het
Bckdha	T	A	7: 25,631,441	D50V	probably damaging	Het
Cast	A	G	13: 74,695,937	S693P	possibly damaging	Het
Crkl	A	G	16: 17,452,740	Y88C	probably damaging	Het
Cse1l	T	C	2: 166,919,621	F32L	probably benign	Het
Dmxl2	C	T	9: 54,393,673	V2385I	probably benign	Het
Dnah1	T	A	14: 31,268,027	I3219F	probably damaging	Het
Dnah17	C	T	11: 118,025,549	R4266H	probably benign	Het
Efcab5	A	G	11: 77,121,262	L722P	probably damaging	Het
Emilin3	C	A	2: 160,909,185	V215L	probably benign	Het
Esr1	A	T	10: 4,746,622	N157I	possibly damaging	Het
Esrrg	A	G	1: 188,198,707	M309V	probably benign	Het
Fam120b	G	A	17: 15,401,910	R50Q	probably damaging	Het
Fat2	G	T	11: 55,310,303	Y648*	probably null	Het
Gbp2b	T	A	3: 142,603,653	I175N	probably benign	Het
Gm1043	T	A	5: 37,154,608		probably benign	Het
Gm21060	A	G	19: 61,296,973	C33R	possibly damaging	Het
Gm9803	C	T	10: 43,524,256	A30V	probably benign	Het
Gpx6	C	T	13: 21,312,340	S28L	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ifi44	T	C	3: 151,749,558	Q10R	probably benign	Het
Impa2	T	C	18: 67,318,428	V264A	probably benign	Het
Khdc1a	A	T	1: 21,350,884	M98L	probably benign	Het
Lrrc45	T	A	11: 120,720,648	L616*	probably null	Het
Mios	A	T	6: 8,215,704	H300L	probably benign	Het
Mllt6	A	T	11: 97,677,225	T827S	probably damaging	Het
Mrc1	C	A	2: 14,316,901	D1068E	probably benign	Het
Ndst3	T	C	3: 123,552,519	Y702C	probably damaging	Het
Nek11	T	A	9: 105,204,888		probably null	Het
Nek4	T	C	14: 30,956,933	F138S	probably damaging	Het
Nfatc4	T	A	14: 55,832,440	Y688*	probably null	Het
Nlrx1	C	T	9: 44,263,760	V240M	probably damaging	Het
Npy6r	A	T	18: 44,276,082	Y190F	probably benign	Het
Olfr338	T	G	2: 36,377,544	L256R	probably damaging	Het
Olfr472	A	G	7: 107,903,413	E232G	probably benign	Het
Olfr509	A	C	7: 108,646,226	S117A	possibly damaging	Het
Olfr548-ps1	C	A	7: 102,542,610	R225S	probably benign	Het
Olfr780	A	T	10: 129,322,369	T249S	probably benign	Het
Olfr960	T	C	9: 39,623,341	F71L	probably damaging	Het
Osbpl7	A	C	11: 97,052,261	H113P	probably benign	Het
Pck1	A	G	2: 173,154,857	E188G	probably benign	Het
Pimreg	A	G	11: 72,045,750	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,043,237	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,307,934	Q622*	probably null	Het
Ppfia2	T	A	10: 106,906,477	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,058,400	V280A	probably damaging	Het
Ptprf	T	C	4: 118,211,048	N1764D	probably benign	Het
Pygm	C	T	19: 6,388,812	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,698,561	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Het
Sdccag3	T	C	2: 26,386,971	D249G	possibly damaging	Het
Setbp1	T	G	18: 78,857,711	I914L	probably benign	Het
Shprh	A	C	10: 11,151,991	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,885,528	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,519,920		probably null	Het
Spin1	T	A	13: 51,139,516	Y87*	probably null	Het
Srebf2	T	C	15: 82,177,276		probably null	Het
Sufu	T	C	19: 46,475,539	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,063,850	V242G	probably benign	Het
Tgm3	A	T	2: 130,042,000	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,968	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799	D454G	probably benign	Het
Ttn	T	C	2: 76,816,599	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,071,406	G200R	probably damaging	Het
Umps	A	G	16: 33,962,138	V138A	probably benign	Het
Wdr66	C	T	5: 123,274,204	T532M	probably damaging	Het
Ypel1	A	G	16: 17,084,513		probably null	Het
Zdhhc19	T	A	16: 32,499,042	L63Q	probably null	Het

Other mutations in Col6a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Col6a1	APN	10	76710979	missense	unknown
IGL01943:Col6a1	APN	10	76719123	critical splice donor site	probably null
IGL02178:Col6a1	APN	10	76711075	missense	unknown
IGL02928:Col6a1	APN	10	76709666	missense	possibly damaging	0.93
IGL03162:Col6a1	APN	10	76718051	splice site	probably benign
P0005:Col6a1	UTSW	10	76717329	splice site	probably benign
R0398:Col6a1	UTSW	10	76710118	missense	unknown
R0631:Col6a1	UTSW	10	76709735	missense	probably benign	0.03
R0698:Col6a1	UTSW	10	76716280	missense	unknown
R0699:Col6a1	UTSW	10	76716280	missense	unknown
R0848:Col6a1	UTSW	10	76713624	critical splice donor site	probably null
R1053:Col6a1	UTSW	10	76720966	missense	probably damaging	0.99
R1235:Col6a1	UTSW	10	76712324	missense	unknown
R1480:Col6a1	UTSW	10	76709918	missense	unknown
R1854:Col6a1	UTSW	10	76721949	missense	probably damaging	1.00
R1995:Col6a1	UTSW	10	76721956	missense	probably damaging	1.00
R2082:Col6a1	UTSW	10	76709596	missense	probably damaging	0.98
R2122:Col6a1	UTSW	10	76721498	missense	probably benign	0.10
R2411:Col6a1	UTSW	10	76711088	missense	unknown
R3236:Col6a1	UTSW	10	76711320	missense	unknown
R3417:Col6a1	UTSW	10	76712369	missense	unknown
R3832:Col6a1	UTSW	10	76711117	missense	unknown
R3843:Col6a1	UTSW	10	76711341	missense	unknown
R3903:Col6a1	UTSW	10	76711341	missense	unknown
R3904:Col6a1	UTSW	10	76711341	missense	unknown
R4409:Col6a1	UTSW	10	76721500	missense	probably benign	0.17
R4418:Col6a1	UTSW	10	76718405	nonsense	probably null
R4568:Col6a1	UTSW	10	76719197	intron	probably benign
R4579:Col6a1	UTSW	10	76711357	missense	unknown
R4661:Col6a1	UTSW	10	76714672	missense	unknown
R4945:Col6a1	UTSW	10	76712272	missense	unknown
R4958:Col6a1	UTSW	10	76723505	missense	probably damaging	1.00
R5101:Col6a1	UTSW	10	76709906	missense	unknown
R5440:Col6a1	UTSW	10	76723454	missense	probably damaging	1.00
R5924:Col6a1	UTSW	10	76718371	critical splice donor site	probably null
R6030:Col6a1	UTSW	10	76709866	missense	unknown
R6366:Col6a1	UTSW	10	76710970	missense	unknown
R6435:Col6a1	UTSW	10	76711123	missense	unknown
R6718:Col6a1	UTSW	10	76725050	missense	probably damaging	1.00
R7014:Col6a1	UTSW	10	76721443	missense	probably damaging	1.00
R7117:Col6a1	UTSW	10	76725009	missense	probably damaging	1.00
R7153:Col6a1	UTSW	10	76710341	splice site	probably null
R7183:Col6a1	UTSW	10	76716259	critical splice donor site	probably null
R7244:Col6a1	UTSW	10	76717408	nonsense	probably null
R7625:Col6a1	UTSW	10	76713926	missense	unknown
R7741:Col6a1	UTSW	10	76709909	missense	unknown
R7774:Col6a1	UTSW	10	76709876	missense	unknown
R7834:Col6a1	UTSW	10	76709928	missense	unknown
R8145:Col6a1	UTSW	10	76723471	missense	possibly damaging	0.46
R8177:Col6a1	UTSW	10	76725029	missense	probably damaging	1.00
R8932:Col6a1	UTSW	10	76716759	missense	unknown
R9060:Col6a1	UTSW	10	76721877	missense	probably benign	0.21
R9411:Col6a1	UTSW	10	76711653	missense	unknown
RF019:Col6a1	UTSW	10	76711615	missense	unknown
X0010:Col6a1	UTSW	10	76723538	missense	probably damaging	1.00
X0067:Col6a1	UTSW	10	76709975	missense	unknown
Z1088:Col6a1	UTSW	10	76709559	makesense	probably null

Predicted Primers

Posted On

2017-06-26