Mutagenetix > Incidental Mutation

Incidental Mutation 'R7014:Col6a1'

545204

Institutional Source

Beutler Lab

Gene Symbol

Col6a1

Ensembl Gene

ENSMUSG00000001119

Gene Name

collagen, type VI, alpha 1

Synonyms

Col6a-1

MMRRC Submission

045115-MU

Accession Numbers

Essential gene?

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

Stock #

R7014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76544626-76561878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76557277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 225 (E225G)

Ref Sequence

ENSEMBL: ENSMUSP00000001147 (fasta)

Gene Model

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

AlphaFold

Q04857

Predicted Effect

probably damaging
Transcript: ENSMUST00000001147
AA Change: E225G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000001147
Gene: ENSMUSG00000001119
AA Change: E225G

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,278,198 (GRCm39)	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,092,727 (GRCm39)	I264T	probably benign	Het
Arid3a	G	T	10: 79,786,718 (GRCm39)	M488I	possibly damaging	Het
Auts2	A	G	5: 131,494,961 (GRCm39)	F331S	probably damaging	Het
Axdnd1	T	C	1: 156,158,532 (GRCm39)		probably null	Het
Bpifb5	C	A	2: 154,066,876 (GRCm39)	S43*	probably null	Het
Carhsp1	A	G	16: 8,478,869 (GRCm39)	V128A	probably benign	Het
Ccdc141	A	G	2: 76,962,641 (GRCm39)	V101A	probably damaging	Het
Cdk6	C	G	5: 3,523,152 (GRCm39)	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,632,416 (GRCm39)	K312Q	possibly damaging	Het
Copg1	T	A	6: 87,879,322 (GRCm39)	L456Q	probably damaging	Het
Ctif	T	A	18: 75,570,279 (GRCm39)	D540V	possibly damaging	Het
Cyfip1	T	C	7: 55,569,241 (GRCm39)	I917T	probably benign	Het
Cyth1	T	C	11: 118,103,477 (GRCm39)	D9G	probably benign	Het
Dnajb1	T	C	8: 84,336,884 (GRCm39)	I118T	probably damaging	Het
Ebna1bp2	T	A	4: 118,480,575 (GRCm39)	Y139*	probably null	Het
Efcab3	A	G	11: 104,584,248 (GRCm39)	T100A	probably benign	Het
Fam162a	A	T	16: 35,870,302 (GRCm39)	V59E	probably damaging	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fmo6	C	G	1: 162,753,877 (GRCm39)	R112T	probably benign	Het
Gm17087	T	A	17: 8,785,304 (GRCm39)	D133V	probably benign	Het
Gm42669	A	G	5: 107,656,142 (GRCm39)	I802V	probably benign	Het
Gp2	T	C	7: 119,050,868 (GRCm39)	N288D	probably damaging	Het
Gstm7	C	T	3: 107,834,278 (GRCm39)	D196N	probably benign	Het
Hsph1	A	T	5: 149,553,865 (GRCm39)	V201D	probably damaging	Het
Il20ra	T	C	10: 19,588,458 (GRCm39)	L26P	unknown	Het
Itpr1	T	A	6: 108,408,459 (GRCm39)		probably null	Het
Kcns3	A	T	12: 11,141,688 (GRCm39)	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,375,475 (GRCm39)	Y128H	probably damaging	Het
Kirrel2	A	G	7: 30,153,999 (GRCm39)	I200T	probably benign	Het
Klhdc10	T	A	6: 30,450,502 (GRCm39)	I294N	probably damaging	Het
Map1a	A	C	2: 121,130,720 (GRCm39)	N512T	probably damaging	Het
Marchf8	C	G	6: 116,380,504 (GRCm39)	C118W	probably damaging	Het
Marchf8	T	G	6: 116,380,505 (GRCm39)	C119G	probably damaging	Het
Mrpl38	G	T	11: 116,025,741 (GRCm39)	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,525,947 (GRCm39)	Q27L	probably benign	Het
Muc16	T	A	9: 18,569,532 (GRCm39)	T996S	unknown	Het
Mug1	C	T	6: 121,838,084 (GRCm39)	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866 (GRCm39)	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,190 (GRCm39)		probably null	Het
Or2b7	A	G	13: 21,740,108 (GRCm39)	F28S	probably benign	Het
Or2l5	A	T	16: 19,334,206 (GRCm39)	F60Y	probably benign	Het
Or5w17	T	C	2: 87,584,215 (GRCm39)	I41V	probably benign	Het
Or5w1b	A	T	2: 87,476,320 (GRCm39)	L49Q	probably damaging	Het
Or7e177	T	A	9: 20,211,959 (GRCm39)	C154*	probably null	Het
Parp9	T	A	16: 35,780,433 (GRCm39)		probably null	Het
Pate8	C	A	9: 36,493,854 (GRCm39)	W26C	unknown	Het
Pbx1	T	A	1: 168,258,949 (GRCm39)	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,622,738 (GRCm39)	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,647 (GRCm39)	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,373,061 (GRCm39)	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,634,904 (GRCm39)	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,114,931 (GRCm39)		probably benign	Het
Pknox2	T	A	9: 36,820,963 (GRCm39)	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,922,429 (GRCm39)	I582T	probably damaging	Het
Prtg	T	C	9: 72,799,267 (GRCm39)	Y766H	possibly damaging	Het
Prxl2a	T	C	14: 40,724,451 (GRCm39)	E71G	probably benign	Het
Rabgap1	A	G	2: 37,450,575 (GRCm39)	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,169,642 (GRCm39)	N60K	probably damaging	Het
Rnf150	C	T	8: 83,769,292 (GRCm39)	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,523,331 (GRCm39)	H236Y	probably benign	Het
Rrp1b	T	A	17: 32,268,401 (GRCm39)	L120Q	probably damaging	Het
Scn7a	C	A	2: 66,572,303 (GRCm39)	G223C	probably null	Het
Sema6a	T	A	18: 47,431,284 (GRCm39)	N138I	probably damaging	Het
Septin5	T	A	16: 18,443,659 (GRCm39)	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,804,234 (GRCm39)	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,511,792 (GRCm39)	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,145,183 (GRCm39)	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,474,709 (GRCm39)	I538V	probably benign	Het
Slco4c1	A	T	1: 96,751,506 (GRCm39)		probably null	Het
Smarcad1	T	C	6: 65,029,654 (GRCm39)	S81P	probably damaging	Het
Smyd1	T	C	6: 71,215,611 (GRCm39)	D116G	probably damaging	Het
Themis	T	C	10: 28,665,703 (GRCm39)	Y589H	probably benign	Het
Trim30d	T	C	7: 104,132,543 (GRCm39)	K248R	probably benign	Het
Tspan12	C	T	6: 21,772,918 (GRCm39)	M210I	probably benign	Het
Vmn2r11	T	C	5: 109,201,289 (GRCm39)	Y405C	probably damaging	Het
Wdfy3	A	G	5: 102,042,775 (GRCm39)		probably null	Het
Wiz	C	A	17: 32,580,840 (GRCm39)	A83S	probably damaging	Het
Zfp1002	A	T	2: 150,097,182 (GRCm39)	C82*	probably null	Het
Zmym6	T	A	4: 127,017,337 (GRCm39)	Y947*	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
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
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'- TAGGACCTGTGTAAGACCCAG -3'
(R):5'- GGGTTCCACAACTACTACCC -3'

Sequencing Primer
(F):5'- GTCTCAGAGGGAAGCACTTAC -3'
(R):5'- TACTACCCAGTTCACAGTGGCG -3'

Posted On

2019-05-13