Incidental Mutation 'IGL03162:Col6a1'
ID 411485
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 # IGL03162
Quality Score
Status
Chromosome 10
Chromosomal Location 76544626-76561878 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 76553885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000001147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001147]
AlphaFold Q04857
Predicted Effect probably benign
Transcript: ENSMUST00000001147
SMART Domains Protein: ENSMUSP00000001147
Gene: ENSMUSG00000001119

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,791,581 (GRCm39) D92V probably damaging Het
Acsl3 T C 1: 78,676,887 (GRCm39) probably null Het
Adam5 T C 8: 25,271,620 (GRCm39) T596A probably benign Het
Adh6a T A 3: 138,034,880 (GRCm39) Y336* probably null Het
Ak3 A T 19: 29,000,236 (GRCm39) V225D possibly damaging Het
Aldh1a7 T A 19: 20,685,645 (GRCm39) I302F probably benign Het
Amdhd1 T C 10: 93,367,337 (GRCm39) probably null Het
Arhgef18 G A 8: 3,491,301 (GRCm39) probably null Het
Caap1 A T 4: 94,389,261 (GRCm39) probably benign Het
Cdhr4 G A 9: 107,875,210 (GRCm39) G70D probably damaging Het
Celsr3 T C 9: 108,719,757 (GRCm39) F2445S probably damaging Het
Cenpc1 A G 5: 86,185,764 (GRCm39) V249A possibly damaging Het
Clca3a2 C A 3: 144,512,177 (GRCm39) V80F probably damaging Het
Commd10 T A 18: 47,220,117 (GRCm39) L198Q probably damaging Het
Cyp2d40 A G 15: 82,644,243 (GRCm39) L294P unknown Het
E2f6 T A 12: 16,868,909 (GRCm39) D77E probably benign Het
Elf5 T A 2: 103,260,751 (GRCm39) H38Q possibly damaging Het
Entrep1 T G 19: 23,965,824 (GRCm39) H225P probably damaging Het
Fcrl6 A G 1: 172,425,820 (GRCm39) V227A probably damaging Het
Fhip2b G T 14: 70,824,994 (GRCm39) D447E probably damaging Het
Gabarapl2 T A 8: 112,669,168 (GRCm39) V42D probably benign Het
Gm3543 A G 14: 41,802,022 (GRCm39) I154T possibly damaging Het
Gpr150 T A 13: 76,204,950 (GRCm39) probably benign Het
Gstp3 A G 19: 4,109,255 (GRCm39) probably benign Het
Gzmm C T 10: 79,528,790 (GRCm39) T64I probably damaging Het
Hs3st1 T A 5: 39,771,792 (GRCm39) K284* probably null Het
Ints7 A G 1: 191,353,524 (GRCm39) probably benign Het
Itih2 A T 2: 10,131,055 (GRCm39) I94N probably damaging Het
Kif26b A G 1: 178,744,497 (GRCm39) N1531S probably benign Het
Kif27 T C 13: 58,459,021 (GRCm39) S937G probably benign Het
Klhl2 A G 8: 65,207,426 (GRCm39) V311A probably damaging Het
Klrb1b T A 6: 128,795,892 (GRCm39) Q109L probably null Het
Lrig2 A G 3: 104,371,613 (GRCm39) F697L probably damaging Het
Lrrc66 T C 5: 73,764,725 (GRCm39) R773G probably benign Het
Mrgpra2b C T 7: 47,113,815 (GRCm39) V306I probably benign Het
Nipbl T C 15: 8,368,463 (GRCm39) H1127R probably benign Het
Nr3c2 A T 8: 77,944,213 (GRCm39) D816V probably damaging Het
Ntmt2 T A 1: 163,530,783 (GRCm39) I219L probably damaging Het
Or10a3 T C 7: 108,480,811 (GRCm39) M1V probably null Het
Or5w19 A C 2: 87,698,484 (GRCm39) M50L probably benign Het
Pdxdc1 A G 16: 13,675,281 (GRCm39) L350P probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pnpla7 T C 2: 24,905,301 (GRCm39) probably benign Het
Ppan T G 9: 20,802,608 (GRCm39) L283R probably damaging Het
Rbfox3 A C 11: 118,387,257 (GRCm39) S286A probably benign Het
Rbl2 A G 8: 91,812,330 (GRCm39) T273A probably benign Het
Recql4 G T 15: 76,590,296 (GRCm39) probably null Het
Slc22a26 T A 19: 7,779,466 (GRCm39) M117L probably benign Het
Sult2a2 T A 7: 13,468,822 (GRCm39) I96K probably damaging Het
Tcf15 G A 2: 151,990,626 (GRCm39) R175H probably benign Het
Uggt1 A T 1: 36,247,037 (GRCm39) V320D probably damaging Het
Vmn2r102 A G 17: 19,914,286 (GRCm39) N617S probably damaging Het
Vpreb3 A G 10: 75,785,133 (GRCm39) Y77C probably damaging Het
Zbbx A T 3: 74,978,930 (GRCm39) probably benign Het
Zfand6 A T 7: 84,283,185 (GRCm39) S57R probably benign Het
Zmym2 A G 14: 57,151,500 (GRCm39) I462V 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
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 2016-08-02