Mutagenetix > Incidental Mutation

Incidental Mutation 'R2122:Col6a1'

229591

Institutional Source

Beutler Lab

Gene Symbol

Col6a1

Ensembl Gene

ENSMUSG00000001119

Gene Name

collagen, type VI, alpha 1

Synonyms

Col6a-1

MMRRC Submission

040126-MU

Accession Numbers

Essential gene?

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

Stock #

R2122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76544626-76561878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76557332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 207 (T207A)

Ref Sequence

ENSEMBL: ENSMUSP00000001147 (fasta)

Gene Model

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

AlphaFold

Q04857

Predicted Effect

probably benign
Transcript: ENSMUST00000001147
AA Change: T207A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001147
Gene: ENSMUSG00000001119
AA Change: T207A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	T	7: 120,119,184 (GRCm39)	G975V	probably damaging	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Actl10	G	A	2: 154,394,153 (GRCm39)	R35H	probably damaging	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Arhgef7	A	T	8: 11,778,256 (GRCm39)	N2I	possibly damaging	Het
Blvra	T	G	2: 126,928,817 (GRCm39)	S102A	probably damaging	Het
Btn1a1	A	G	13: 23,645,691 (GRCm39)	L226P	probably damaging	Het
C2cd4d	G	T	3: 94,270,925 (GRCm39)	E64*	probably null	Het
Ccna2	A	G	3: 36,622,875 (GRCm39)	V209A	probably damaging	Het
Cd55	T	A	1: 130,387,354 (GRCm39)	D148V	possibly damaging	Het
Cdh2	G	A	18: 16,907,600 (GRCm39)	P46L	probably benign	Het
Cldn11	A	G	3: 31,217,300 (GRCm39)	Y156C	probably damaging	Het
Cmtm2a	T	C	8: 105,019,655 (GRCm39)	R12G	possibly damaging	Het
Cog2	T	C	8: 125,255,724 (GRCm39)	S104P	possibly damaging	Het
Col4a3	T	G	1: 82,632,678 (GRCm39)	F184V	unknown	Het
Col4a4	T	A	1: 82,434,592 (GRCm39)	D1406V	unknown	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dcdc2a	T	G	13: 25,303,268 (GRCm39)	S266R	possibly damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Eif2ak4	T	A	2: 118,286,274 (GRCm39)	V1063E	probably damaging	Het
Enpp2	A	T	15: 54,761,188 (GRCm39)	Y44*	probably null	Het
Ep400	A	T	5: 110,856,716 (GRCm39)		probably benign	Het
Exoc6b	A	G	6: 84,598,464 (GRCm39)	M779T	probably benign	Het
F13a1	T	A	13: 37,209,653 (GRCm39)	Y104F	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Fscn3	A	G	6: 28,430,388 (GRCm39)	D186G	probably benign	Het
Gm5773	G	A	3: 93,680,624 (GRCm39)	G99R	possibly damaging	Het
Grk1	A	T	8: 13,455,221 (GRCm39)	Y35F	probably benign	Het
Heatr1	T	C	13: 12,418,145 (GRCm39)	V359A	probably benign	Het
Hfm1	A	G	5: 107,044,121 (GRCm39)	S567P	probably damaging	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Kctd5	T	C	17: 24,274,940 (GRCm39)	T212A	probably benign	Het
Krtap5-5	A	T	7: 141,783,240 (GRCm39)	C137S	unknown	Het
Lrp2	T	C	2: 69,314,051 (GRCm39)	T2227A	probably damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Map1a	T	A	2: 121,129,927 (GRCm39)	Y248N	probably damaging	Het
Mdc1	C	T	17: 36,158,835 (GRCm39)	A405V	probably benign	Het
Mfsd4b1	T	C	10: 39,878,647 (GRCm39)	K417E	possibly damaging	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh11	T	C	16: 14,035,868 (GRCm39)	E1027G	probably damaging	Het
Nudt6	A	C	3: 37,466,554 (GRCm39)	F80L	probably benign	Het
Nxph1	A	G	6: 9,247,791 (GRCm39)	K254R	probably damaging	Het
Obsl1	C	T	1: 75,470,527 (GRCm39)	R1043H	probably benign	Het
Or10a4	A	T	7: 106,697,316 (GRCm39)	I215F	probably damaging	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Phldb2	T	A	16: 45,583,304 (GRCm39)	I1065F	probably damaging	Het
Ppp1r3a	A	T	6: 14,721,874 (GRCm39)	N317K	possibly damaging	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reg3a	T	C	6: 78,358,119 (GRCm39)	C17R	possibly damaging	Het
Ripor2	A	G	13: 24,897,701 (GRCm39)	S800G	probably damaging	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Rnf31	A	G	14: 55,833,654 (GRCm39)	D554G	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sacs	A	T	14: 61,449,765 (GRCm39)	Q3937L	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Slc20a1	T	G	2: 129,041,739 (GRCm39)	I34S	possibly damaging	Het
Slc25a30	A	G	14: 76,007,658 (GRCm39)	S116P	possibly damaging	Het
Speer4c1	T	A	5: 15,919,115 (GRCm39)	D29V	possibly damaging	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Susd3	A	G	13: 49,384,626 (GRCm39)	Y254H	probably damaging	Het
Tanc2	T	C	11: 105,786,775 (GRCm39)	L858P	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tfpt	C	T	7: 3,631,930 (GRCm39)	R60Q	probably damaging	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Tnfsf9	A	T	17: 57,414,316 (GRCm39)		probably null	Het
Ube3c	T	C	5: 29,824,604 (GRCm39)	I543T	probably benign	Het
Ugt1a2	C	A	1: 88,128,735 (GRCm39)	S126Y	possibly damaging	Het
Vmn1r180	T	A	7: 23,652,566 (GRCm39)	L243Q	probably damaging	Het
Vmn2r15	A	C	5: 109,434,322 (GRCm39)	V794G	probably damaging	Het
Vmn2r24	A	G	6: 123,792,353 (GRCm39)	D560G	possibly damaging	Het
Wdr11	G	A	7: 129,233,490 (GRCm39)	C1028Y	probably damaging	Het
Zfp318	A	G	17: 46,724,297 (GRCm39)	D2100G	probably benign	Het
Zfyve16	A	T	13: 92,655,991 (GRCm39)	Y789*	probably null	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
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
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'- ACTCTCTCCAATGGGCATAGC -3'
(R):5'- ATATAGTCTGCTGGGTCCCTGG -3'

Sequencing Primer
(F):5'- GGCATAGCCCTCCTTCCC -3'
(R):5'- GGGTGAAGACTCCCCAGTAGAC -3'

Posted On

2014-09-17