Mutagenetix > Incidental Mutation

Incidental Mutation 'R6718:Col6a1'

529466

Institutional Source

Beutler Lab

Gene Symbol

Col6a1

Ensembl Gene

ENSMUSG00000001119

Gene Name

collagen, type VI, alpha 1

Synonyms

Col6a-1

MMRRC Submission

044836-MU

Accession Numbers

Essential gene?

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

Stock #

R6718 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76544626-76561878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76560884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 38 (F38S)

Ref Sequence

ENSEMBL: ENSMUSP00000001147 (fasta)

Gene Model

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

AlphaFold

Q04857

Predicted Effect

probably damaging
Transcript: ENSMUST00000001147
AA Change: F38S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001147
Gene: ENSMUSG00000001119
AA Change: F38S

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: ENSMUST00000218963

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	A	18: 67,554,346 (GRCm39)	T452I	probably damaging	Het
Asb8	A	G	15: 98,034,015 (GRCm39)	I180T	probably benign	Het
Cdh18	A	G	15: 23,226,835 (GRCm39)	T45A	probably benign	Het
Col12a1	T	A	9: 79,606,887 (GRCm39)	Y512F	probably damaging	Het
Hoxc5	A	G	15: 102,922,698 (GRCm39)		probably null	Het
Kmt2d	TATGCTGCTG	TATGCTGCTGATGCTGCTG	15: 98,747,467 (GRCm39)		probably benign	Het
Kmt2d	C	T	15: 98,748,420 (GRCm39)		probably benign	Het
Lrp2	G	T	2: 69,314,124 (GRCm39)	H2202Q	probably benign	Het
Maf	C	A	8: 116,433,539 (GRCm39)	V22F	unknown	Het
Mrgpra3	C	T	7: 47,239,444 (GRCm39)	V161M	probably benign	Het
Or7g33	G	T	9: 19,448,495 (GRCm39)	H244N	probably damaging	Het
Otx1	T	C	11: 21,946,412 (GRCm39)		probably benign	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pex11a	A	G	7: 79,387,230 (GRCm39)	F201L	probably benign	Het
Pigu	A	G	2: 155,143,206 (GRCm39)	Y232H	possibly damaging	Het
Pms2	T	C	5: 143,860,307 (GRCm39)	I40T	probably damaging	Het
Pura	A	G	18: 36,420,696 (GRCm39)	N161S	probably damaging	Het
Ranbp10	A	G	8: 106,501,260 (GRCm39)	V330A	possibly damaging	Het
Slc30a9	T	C	5: 67,490,443 (GRCm39)	V218A	probably damaging	Het
Spindoc	C	T	19: 7,335,781 (GRCm39)	V336I	probably damaging	Het
Tmprss9	A	G	10: 80,726,198 (GRCm39)	T483A	probably benign	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
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'- TTAAGGCTCAGCTCTACCTGC -3'
(R):5'- GAGACTTGGCTCTCACTCAGAC -3'

Sequencing Primer
(F):5'- TGCAGGTCCAGTCCCCC -3'
(R):5'- TGTTACCCACCAGGCAGG -3'

Posted On

2018-08-01