Incidental Mutation 'R4579:Col6a1'
ID 343518
Institutional Source Beutler Lab
Gene Symbol Col6a1
Ensembl Gene ENSMUSG00000001119
Gene Name collagen, type VI, alpha 1
Synonyms Col6a-1
MMRRC Submission 041801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R4579 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 76544626-76561878 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76547191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 725 (V725I)
Ref Sequence ENSEMBL: ENSMUSP00000001147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001147]
AlphaFold Q04857
Predicted Effect unknown
Transcript: ENSMUST00000001147
AA Change: V725I
SMART Domains Protein: ENSMUSP00000001147
Gene: ENSMUSG00000001119
AA Change: V725I

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.2937 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (88/91)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik A G 2: 18,031,848 (GRCm39) I90T probably damaging Het
Acox3 A G 5: 35,761,987 (GRCm39) N444D probably damaging Het
Adamts16 A G 13: 70,927,743 (GRCm39) Y499H probably damaging Het
Ajm1 T A 2: 25,469,661 (GRCm39) R83S possibly damaging Het
Ank2 A T 3: 126,752,612 (GRCm39) V368D probably damaging Het
Atad5 T C 11: 79,986,017 (GRCm39) V368A probably damaging Het
Atp13a5 T C 16: 29,067,090 (GRCm39) probably null Het
Bdh1 A T 16: 31,254,954 (GRCm39) probably benign Het
Bmp6 A T 13: 38,653,701 (GRCm39) Y256F probably damaging Het
Bub1b C A 2: 118,453,657 (GRCm39) S496* probably null Het
Capn15 C T 17: 26,178,811 (GRCm39) R1128H probably damaging Het
Ccnf T A 17: 24,450,303 (GRCm39) R461* probably null Het
Cp T C 3: 20,011,599 (GRCm39) probably null Het
Cul2 T C 18: 3,430,957 (GRCm39) V577A probably benign Het
Cux2 A T 5: 121,998,716 (GRCm39) I1408K probably benign Het
Cyp2c69 T A 19: 39,869,630 (GRCm39) T130S possibly damaging Het
Cyp3a57 A G 5: 145,311,074 (GRCm39) T278A probably benign Het
Dchs1 T G 7: 105,403,972 (GRCm39) T2857P probably damaging Het
Dchs1 A G 7: 105,408,180 (GRCm39) M1884T probably benign Het
Dnah3 T C 7: 119,608,554 (GRCm39) S1802G probably damaging Het
Dner T C 1: 84,361,537 (GRCm39) S691G probably damaging Het
Dzip1l A T 9: 99,529,267 (GRCm39) Q332L probably damaging Het
Eprs1 A G 1: 185,133,804 (GRCm39) Y827C probably damaging Het
Ermp1 A T 19: 29,594,051 (GRCm39) N706K probably damaging Het
F830045P16Rik A G 2: 129,305,423 (GRCm39) L317S probably damaging Het
Fam120c G T X: 150,219,179 (GRCm39) G696W probably damaging Het
Fance T A 17: 28,536,125 (GRCm39) probably null Het
Fancl G T 11: 26,418,423 (GRCm39) probably null Het
Fbxo30 T A 10: 11,165,293 (GRCm39) V5E probably benign Het
Foxn4 A T 5: 114,394,886 (GRCm39) I347N possibly damaging Het
Galr2 A T 11: 116,172,325 (GRCm39) D5V probably benign Het
Gm4845 T G 1: 141,184,865 (GRCm39) noncoding transcript Het
Gnao1 A T 8: 94,693,532 (GRCm39) Q73L probably damaging Het
Gnpat T A 8: 125,605,241 (GRCm39) probably null Het
H2-T5 C T 17: 36,472,649 (GRCm39) probably benign Het
Hectd1 A G 12: 51,791,356 (GRCm39) M2594T probably damaging Het
Hint3 T C 10: 30,486,428 (GRCm39) H117R probably damaging Het
Hsd3b6 A G 3: 98,713,541 (GRCm39) F253L probably damaging Het
Itgal A G 7: 126,904,466 (GRCm39) D313G possibly damaging Het
Kbtbd2 A T 6: 56,755,893 (GRCm39) D614E probably damaging Het
Ksr2 A T 5: 117,894,335 (GRCm39) I825F probably damaging Het
L3mbtl4 A T 17: 69,071,635 (GRCm39) S521C probably benign Het
Lamc1 T C 1: 153,123,015 (GRCm39) N725S probably damaging Het
Med1 T G 11: 98,049,248 (GRCm39) E516A possibly damaging Het
Mical3 A T 6: 120,935,660 (GRCm39) V1622E probably benign Het
Miip G A 4: 147,945,518 (GRCm39) P373S probably damaging Het
Myo7a C A 7: 97,722,400 (GRCm39) S1175I probably damaging Het
Ndst3 A T 3: 123,340,474 (GRCm39) D781E probably benign Het
Nf1 T A 11: 79,359,583 (GRCm39) V1407E probably damaging Het
Opalin A G 19: 41,056,196 (GRCm39) L33P probably damaging Het
Or2f2 A T 6: 42,767,458 (GRCm39) I162F probably benign Het
Or2n1b G C 17: 38,460,296 (GRCm39) K272N probably damaging Het
Or4c111 T C 2: 88,843,488 (GRCm39) I307V probably benign Het
Or8b12i G T 9: 20,082,410 (GRCm39) S152R probably damaging Het
Or8k28 T C 2: 86,285,859 (GRCm39) Y252C probably damaging Het
Or8s10 A T 15: 98,335,560 (GRCm39) D70V probably damaging Het
Pcdhb2 T A 18: 37,429,168 (GRCm39) N23K probably damaging Het
Pdap1 A G 5: 145,073,691 (GRCm39) probably benign Het
Pds5b A G 5: 150,670,197 (GRCm39) E395G probably damaging Het
Pex1 C A 5: 3,668,880 (GRCm39) R624S probably benign Het
Pitrm1 G A 13: 6,608,261 (GRCm39) V329I probably benign Het
Pop1 G A 15: 34,515,970 (GRCm39) probably benign Het
Prkaa1 A G 15: 5,190,082 (GRCm39) probably null Het
Slc38a6 G T 12: 73,335,298 (GRCm39) probably null Het
Slc5a9 T A 4: 111,750,384 (GRCm39) Y158F probably damaging Het
Spata3 T A 1: 85,954,175 (GRCm39) V114E probably damaging Het
Tbcb T A 7: 29,931,019 (GRCm39) I34F possibly damaging Het
Tek T A 4: 94,751,903 (GRCm39) Y1014* probably null Het
Togaram1 G T 12: 65,014,681 (GRCm39) C644F probably damaging Het
Trim56 A C 5: 137,142,918 (GRCm39) D199E possibly damaging Het
Tssk3 A T 4: 129,383,110 (GRCm39) D187E probably benign Het
Ttn G A 2: 76,727,147 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,025 (GRCm39) R126Q probably benign Het
Ugt1a10 T C 1: 87,983,838 (GRCm39) M212T probably benign Het
Vmn1r177 A T 7: 23,565,772 (GRCm39) F35I possibly damaging Het
Vmn1r44 T A 6: 89,870,915 (GRCm39) H77Q possibly damaging Het
Zfp1004 T A 2: 150,034,143 (GRCm39) Y186N probably damaging Het
Zfp524 G A 7: 5,021,347 (GRCm39) V292I probably benign Het
Zfp788 T G 7: 41,297,018 (GRCm39) I56S probably benign Het
Other mutations in Col6a1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATCAGCTGATCCTGGACTTCC -3'
(R):5'- GAGTAAGAGCATCCCCAAGATCTC -3'

Sequencing Primer
(F):5'- GGACTTCCCCTCCCCTGG -3'
(R):5'- ATTCCCAGGCCTCTAGCAG -3'
Posted On 2015-09-24