Incidental Mutation 'IGL01779:Col8a1'
ID 153900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col8a1
Ensembl Gene ENSMUSG00000068196
Gene Name collagen, type VIII, alpha 1
Synonyms Col8a-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01779
Quality Score
Status
Chromosome 16
Chromosomal Location 57444621-57575100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57448726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 261 (H261Q)
Ref Sequence ENSEMBL: ENSMUSP00000086745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089332]
AlphaFold Q00780
PDB Structure Crystal Structure of a Collagen VIII NC1 Domain Trimer [X-RAY DIFFRACTION]
Predicted Effect unknown
Transcript: ENSMUST00000089332
AA Change: H261Q
SMART Domains Protein: ENSMUSP00000086745
Gene: ENSMUSG00000068196
AA Change: H261Q

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 31 57 N/A INTRINSIC
low complexity region 100 113 N/A INTRINSIC
low complexity region 122 145 N/A INTRINSIC
Pfam:Collagen 158 212 5.4e-9 PFAM
low complexity region 376 436 N/A INTRINSIC
Pfam:Collagen 469 534 2.6e-10 PFAM
Pfam:Collagen 517 586 4.9e-8 PFAM
C1Q 609 744 1.14e-78 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mutation of this gene causes cornea abnormalities that include increased depth of the anterior chamber and a thinner corneal stroma and Descemet's membrane. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A T 5: 81,535,717 (GRCm39) I119F probably damaging Het
Akt1 C T 12: 112,623,603 (GRCm39) G286R probably damaging Het
Apof A G 10: 128,105,346 (GRCm39) I167V probably benign Het
Arhgap15 A G 2: 43,955,057 (GRCm39) E220G possibly damaging Het
Clca3a2 T A 3: 144,525,139 (GRCm39) Y31F possibly damaging Het
Clmn T C 12: 104,748,399 (GRCm39) I383V probably benign Het
Cntnap5b A G 1: 99,895,064 (GRCm39) D112G probably damaging Het
Csmd3 A T 15: 47,721,290 (GRCm39) V1551D probably benign Het
Ddx60 G A 8: 62,470,857 (GRCm39) V1450M possibly damaging Het
Ethe1 A T 7: 24,294,434 (GRCm39) H79L probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gm11110 C T 17: 57,409,087 (GRCm39) probably benign Het
Hs1bp3 C T 12: 8,391,945 (GRCm39) T349I probably benign Het
Ifna16 A T 4: 88,594,882 (GRCm39) I71N probably damaging Het
Il18bp A G 7: 101,666,002 (GRCm39) Y59H possibly damaging Het
Kcnt1 T A 2: 25,790,979 (GRCm39) I511N probably damaging Het
Mlph A G 1: 90,870,672 (GRCm39) M528V probably benign Het
Or52d1 A G 7: 103,755,840 (GRCm39) D118G probably damaging Het
Pprc1 T A 19: 46,050,641 (GRCm39) I52N probably damaging Het
Rfx1 T A 8: 84,819,291 (GRCm39) probably benign Het
Rnf17 A T 14: 56,699,520 (GRCm39) I553F probably benign Het
Scaper A T 9: 55,799,524 (GRCm39) H180Q probably benign Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc30a10 A T 1: 185,196,376 (GRCm39) Q346L possibly damaging Het
Stambpl1 A T 19: 34,217,427 (GRCm39) H422L possibly damaging Het
Trim67 G A 8: 125,554,860 (GRCm39) G701R probably damaging Het
Vipr1 T C 9: 121,493,696 (GRCm39) F249S probably damaging Het
Vmn2r117 G T 17: 23,696,215 (GRCm39) D397E probably benign Het
Other mutations in Col8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Col8a1 APN 16 57,448,097 (GRCm39) missense unknown
IGL03024:Col8a1 APN 16 57,448,727 (GRCm39) missense unknown
R0383:Col8a1 UTSW 16 57,452,805 (GRCm39) missense probably damaging 1.00
R0931:Col8a1 UTSW 16 57,448,931 (GRCm39) missense unknown
R1912:Col8a1 UTSW 16 57,448,287 (GRCm39) missense unknown
R3720:Col8a1 UTSW 16 57,447,279 (GRCm39) missense unknown
R6252:Col8a1 UTSW 16 57,447,368 (GRCm39) missense unknown
R7569:Col8a1 UTSW 16 57,447,555 (GRCm39) missense unknown
R8242:Col8a1 UTSW 16 57,452,721 (GRCm39) missense possibly damaging 0.56
R8726:Col8a1 UTSW 16 57,449,138 (GRCm39) missense probably damaging 1.00
R9196:Col8a1 UTSW 16 57,447,730 (GRCm39) missense unknown
R9209:Col8a1 UTSW 16 57,447,283 (GRCm39) nonsense probably null
R9444:Col8a1 UTSW 16 57,448,455 (GRCm39) nonsense probably null
R9508:Col8a1 UTSW 16 57,448,947 (GRCm39) missense unknown
R9570:Col8a1 UTSW 16 57,448,539 (GRCm39) missense unknown
Z1177:Col8a1 UTSW 16 57,452,813 (GRCm39) missense probably damaging 1.00
Z1177:Col8a1 UTSW 16 57,448,601 (GRCm39) missense unknown
Posted On 2014-02-04