Incidental Mutation 'IGL02178:Col6a1'
ID283198
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col6a1
Ensembl Gene ENSMUSG00000001119
Gene Namecollagen, type VI, alpha 1
SynonymsCol6a-1
Accession Numbers

Ncbi RefSeq: NM_009933.4; MGI: 88459

Is this an essential gene? Probably non essential (E-score: 0.216) question?
Stock #IGL02178
Quality Score
Status
Chromosome10
Chromosomal Location76708792-76726168 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 76711075 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 771 (I771N)
Ref Sequence ENSEMBL: ENSMUSP00000001147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001147]
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 Strain: 2153356
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: 32,662,461 T516S possibly damaging Het
6820408C15Rik T C 2: 152,428,001 probably benign Het
Ak5 T C 3: 152,526,785 D331G probably benign Het
Ar A G X: 98,305,438 D675G probably damaging Het
Arhgap23 A G 11: 97,452,353 D276G probably benign Het
Arhgef3 C T 14: 27,265,529 R40* probably null Het
Atp1b4 G T X: 38,332,818 R293L possibly damaging Het
Borcs8 T C 8: 70,165,247 L85P probably damaging Het
Carmil1 T G 13: 24,094,403 K194N probably damaging Het
Catsper4 T A 4: 134,227,326 K4N probably benign Het
Ccdc30 T C 4: 119,349,724 probably benign Het
Cd101 A G 3: 100,993,766 S997P probably damaging Het
Cdkl5 G A X: 160,816,893 T792I probably benign Het
Cep135 A G 5: 76,595,474 Y185C probably damaging Het
Clcn5 A G X: 7,186,324 Y59H possibly damaging Het
Crispld1 C T 1: 17,762,103 probably benign Het
Fam109b T A 15: 82,343,326 D15E possibly damaging Het
Fbxl13 A G 5: 21,620,720 I128T possibly damaging Het
Gga1 T A 15: 78,892,047 M430K probably benign Het
Has2 A G 15: 56,682,060 Y49H probably damaging Het
Ivd A G 2: 118,871,434 I116V probably benign Het
Krt75 T C 15: 101,572,791 N183D probably benign Het
Map3k9 A T 12: 81,743,837 I314N probably damaging Het
Map6d1 T G 16: 20,236,698 E129D probably damaging Het
Mettl22 T C 16: 8,478,282 V145A probably benign Het
Muc5ac T A 7: 141,805,447 probably benign Het
Mycbp2 A G 14: 103,224,366 F1416L probably benign Het
Nlrc4 T C 17: 74,446,843 I182V probably damaging Het
Olfr1351 T C 10: 79,017,720 Y133H possibly damaging Het
Olfr1444 T A 19: 12,862,543 I256N possibly damaging Het
Phc3 T C 3: 30,929,863 T668A possibly damaging Het
Ppp2r2a T C 14: 67,023,097 Y244C probably damaging Het
Prkcq A C 2: 11,277,040 Y460S possibly damaging Het
Prmt8 T A 6: 127,697,807 E286V probably benign Het
Ptprb A T 10: 116,322,532 M503L probably benign Het
Ptprq A T 10: 107,686,319 D590E probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Rps6kc1 A T 1: 190,871,836 S196R possibly damaging Het
Ryr3 A G 2: 112,825,799 Y1951H probably benign Het
Sbno1 A T 5: 124,400,195 probably null Het
Sde2 T G 1: 180,851,231 L20R possibly damaging Het
Slco1a5 A T 6: 142,262,688 C81* probably null Het
Snx2 A G 18: 53,199,785 E177G possibly damaging Het
Spg11 A T 2: 122,097,302 V667D probably damaging Het
Tas2r115 T C 6: 132,737,308 T227A probably benign Het
Tmed9 A G 13: 55,593,295 H41R possibly damaging Het
Vmn1r35 T G 6: 66,679,102 S28R probably damaging Het
Vmn2r110 A C 17: 20,584,444 probably null Het
Vstm2l T C 2: 157,935,417 Y72H probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zbtb4 A T 11: 69,776,429 R187* probably null Het
Zfp598 A G 17: 24,677,543 D198G probably damaging Het
Zp2 G T 7: 120,133,750 A629E possibly damaging Het
Other mutations in Col6a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Col6a1 APN 10 76710979 missense unknown
IGL01943:Col6a1 APN 10 76719123 critical splice donor site probably null
IGL02928:Col6a1 APN 10 76709666 missense possibly damaging 0.93
IGL03162:Col6a1 APN 10 76718051 splice site probably benign
P0005:Col6a1 UTSW 10 76717329 splice site probably benign
R0398:Col6a1 UTSW 10 76710118 missense unknown
R0631:Col6a1 UTSW 10 76709735 missense probably benign 0.03
R0698:Col6a1 UTSW 10 76716280 missense unknown
R0699:Col6a1 UTSW 10 76716280 missense unknown
R0848:Col6a1 UTSW 10 76713624 critical splice donor site probably null
R1053:Col6a1 UTSW 10 76720966 missense probably damaging 0.99
R1235:Col6a1 UTSW 10 76712324 missense unknown
R1480:Col6a1 UTSW 10 76709918 missense unknown
R1854:Col6a1 UTSW 10 76721949 missense probably damaging 1.00
R1995:Col6a1 UTSW 10 76721956 missense probably damaging 1.00
R2082:Col6a1 UTSW 10 76709596 missense probably damaging 0.98
R2122:Col6a1 UTSW 10 76721498 missense probably benign 0.10
R2411:Col6a1 UTSW 10 76711088 missense unknown
R3236:Col6a1 UTSW 10 76711320 missense unknown
R3417:Col6a1 UTSW 10 76712369 missense unknown
R3832:Col6a1 UTSW 10 76711117 missense unknown
R3843:Col6a1 UTSW 10 76711341 missense unknown
R3903:Col6a1 UTSW 10 76711341 missense unknown
R3904:Col6a1 UTSW 10 76711341 missense unknown
R4409:Col6a1 UTSW 10 76721500 missense probably benign 0.17
R4418:Col6a1 UTSW 10 76718405 nonsense probably null
R4568:Col6a1 UTSW 10 76719197 intron probably benign
R4579:Col6a1 UTSW 10 76711357 missense unknown
R4661:Col6a1 UTSW 10 76714672 missense unknown
R4945:Col6a1 UTSW 10 76712272 missense unknown
R4958:Col6a1 UTSW 10 76723505 missense probably damaging 1.00
R5101:Col6a1 UTSW 10 76709906 missense unknown
R5440:Col6a1 UTSW 10 76723454 missense probably damaging 1.00
R5924:Col6a1 UTSW 10 76718371 critical splice donor site probably null
R6030:Col6a1 UTSW 10 76709866 missense unknown
R6030:Col6a1 UTSW 10 76709866 missense unknown
R6366:Col6a1 UTSW 10 76710970 missense unknown
R6435:Col6a1 UTSW 10 76711123 missense unknown
R6718:Col6a1 UTSW 10 76725050 missense probably damaging 1.00
R7014:Col6a1 UTSW 10 76721443 missense probably damaging 1.00
R7117:Col6a1 UTSW 10 76725009 missense probably damaging 1.00
R7153:Col6a1 UTSW 10 76710341 splice site probably null
R7183:Col6a1 UTSW 10 76716259 critical splice donor site probably null
R7244:Col6a1 UTSW 10 76717408 nonsense probably null
R7625:Col6a1 UTSW 10 76713926 missense unknown
R7741:Col6a1 UTSW 10 76709909 missense unknown
R7774:Col6a1 UTSW 10 76709876 missense unknown
R7834:Col6a1 UTSW 10 76709928 missense unknown
R8145:Col6a1 UTSW 10 76723471 missense possibly damaging 0.46
R8177:Col6a1 UTSW 10 76725029 missense probably damaging 1.00
RF019:Col6a1 UTSW 10 76711615 missense unknown
X0010:Col6a1 UTSW 10 76723538 missense probably damaging 1.00
X0067:Col6a1 UTSW 10 76709975 missense unknown
Z1088:Col6a1 UTSW 10 76709559 makesense probably null
Posted On2015-04-16