Incidental Mutation 'IGL02178:Col6a1'
ID 283198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col6a1
Ensembl Gene ENSMUSG00000001119
Gene Name collagen, type VI, alpha 1
Synonyms Col6a-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # IGL02178
Quality Score
Status
Chromosome 10
Chromosomal Location 76544626-76561878 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76546909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 771 (I771N)
Ref Sequence ENSEMBL: ENSMUSP00000001147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001147]
AlphaFold Q04857
Predicted Effect unknown
Transcript: ENSMUST00000001147
AA Change: I771N
SMART Domains Protein: ENSMUSP00000001147
Gene: ENSMUSG00000001119
AA Change: I771N

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
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,384,418 (GRCm39) T516S possibly damaging Het
6820408C15Rik T C 2: 152,269,921 (GRCm39) probably benign Het
Ak5 T C 3: 152,232,422 (GRCm39) D331G probably benign Het
Ar A G X: 97,349,044 (GRCm39) D675G probably damaging Het
Arhgap23 A G 11: 97,343,179 (GRCm39) D276G probably benign Het
Arhgef3 C T 14: 26,987,486 (GRCm39) R40* probably null Het
Atp1b4 G T X: 37,421,695 (GRCm39) R293L possibly damaging Het
Borcs8 T C 8: 70,617,897 (GRCm39) L85P probably damaging Het
Carmil1 T G 13: 24,278,386 (GRCm39) K194N probably damaging Het
Catsper4 T A 4: 133,954,637 (GRCm39) K4N probably benign Het
Ccdc30 T C 4: 119,206,921 (GRCm39) probably benign Het
Cd101 A G 3: 100,901,082 (GRCm39) S997P probably damaging Het
Cdkl5 G A X: 159,599,889 (GRCm39) T792I probably benign Het
Cep135 A G 5: 76,743,321 (GRCm39) Y185C probably damaging Het
Clcn5 A G X: 7,052,563 (GRCm39) Y59H possibly damaging Het
Crispld1 C T 1: 17,832,327 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,825,718 (GRCm39) I128T possibly damaging Het
Gga1 T A 15: 78,776,247 (GRCm39) M430K probably benign Het
Has2 A G 15: 56,545,456 (GRCm39) Y49H probably damaging Het
Ivd A G 2: 118,701,915 (GRCm39) I116V probably benign Het
Krt75 T C 15: 101,481,226 (GRCm39) N183D probably benign Het
Map3k9 A T 12: 81,790,611 (GRCm39) I314N probably damaging Het
Map6d1 T G 16: 20,055,448 (GRCm39) E129D probably damaging Het
Mettl22 T C 16: 8,296,146 (GRCm39) V145A probably benign Het
Muc5ac T A 7: 141,359,184 (GRCm39) probably benign Het
Mycbp2 A G 14: 103,461,802 (GRCm39) F1416L probably benign Het
Nlrc4 T C 17: 74,753,838 (GRCm39) I182V probably damaging Het
Or5b21 T A 19: 12,839,907 (GRCm39) I256N possibly damaging Het
Or7a35 T C 10: 78,853,554 (GRCm39) Y133H possibly damaging Het
Phc3 T C 3: 30,984,012 (GRCm39) T668A possibly damaging Het
Pheta2 T A 15: 82,227,527 (GRCm39) D15E possibly damaging Het
Ppp2r2a T C 14: 67,260,546 (GRCm39) Y244C probably damaging Het
Prkcq A C 2: 11,281,851 (GRCm39) Y460S possibly damaging Het
Prmt8 T A 6: 127,674,770 (GRCm39) E286V probably benign Het
Ptprb A T 10: 116,158,437 (GRCm39) M503L probably benign Het
Ptprq A T 10: 107,522,180 (GRCm39) D590E probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Rps6kc1 A T 1: 190,604,033 (GRCm39) S196R possibly damaging Het
Ryr3 A G 2: 112,656,144 (GRCm39) Y1951H probably benign Het
Sbno1 A T 5: 124,538,258 (GRCm39) probably null Het
Sde2 T G 1: 180,678,796 (GRCm39) L20R possibly damaging Het
Slco1a5 A T 6: 142,208,414 (GRCm39) C81* probably null Het
Snx2 A G 18: 53,332,857 (GRCm39) E177G possibly damaging Het
Spg11 A T 2: 121,927,783 (GRCm39) V667D probably damaging Het
Tas2r115 T C 6: 132,714,271 (GRCm39) T227A probably benign Het
Tmed9 A G 13: 55,741,108 (GRCm39) H41R possibly damaging Het
Vmn1r35 T G 6: 66,656,086 (GRCm39) S28R probably damaging Het
Vmn2r110 A C 17: 20,804,706 (GRCm39) probably null Het
Vstm2l T C 2: 157,777,337 (GRCm39) Y72H probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zbtb4 A T 11: 69,667,255 (GRCm39) R187* probably null Het
Zfp598 A G 17: 24,896,517 (GRCm39) D198G probably damaging Het
Zp2 G T 7: 119,732,973 (GRCm39) A629E possibly damaging 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
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
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
Posted On 2015-04-16