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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01779
Quality Score
Status
Chromosome 16
Chromosomal Location 57624258-57754737 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57628363 bp (GRCm38)
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: 81,387,870 I119F probably damaging Het
Akt1 C T 12: 112,657,169 G286R probably damaging Het
Apof A G 10: 128,269,477 I167V probably benign Het
Arhgap15 A G 2: 44,065,045 E220G possibly damaging Het
Clca3a2 T A 3: 144,819,378 Y31F possibly damaging Het
Clmn T C 12: 104,782,140 I383V probably benign Het
Cntnap5b A G 1: 99,967,339 D112G probably damaging Het
Csmd3 A T 15: 47,857,894 V1551D probably benign Het
Ddx60 G A 8: 62,017,823 V1450M possibly damaging Het
Ethe1 A T 7: 24,595,009 H79L probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm11110 C T 17: 57,102,087 probably benign Het
Hs1bp3 C T 12: 8,341,945 T349I probably benign Het
Ifna16 A T 4: 88,676,645 I71N probably damaging Het
Il18bp A G 7: 102,016,795 Y59H possibly damaging Het
Kcnt1 T A 2: 25,900,967 I511N probably damaging Het
Mlph A G 1: 90,942,950 M528V probably benign Het
Olfr646 A G 7: 104,106,633 D118G probably damaging Het
Pprc1 T A 19: 46,062,202 I52N probably damaging Het
Rfx1 T A 8: 84,092,662 probably benign Het
Rnf17 A T 14: 56,462,063 I553F probably benign Het
Scaper A T 9: 55,892,240 H180Q probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc30a10 A T 1: 185,464,179 Q346L possibly damaging Het
Stambpl1 A T 19: 34,240,027 H422L possibly damaging Het
Trim67 G A 8: 124,828,121 G701R probably damaging Het
Vipr1 T C 9: 121,664,630 F249S probably damaging Het
Vmn2r117 G T 17: 23,477,241 D397E probably benign Het
Other mutations in Col8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Col8a1 APN 16 57627734 missense unknown
IGL03024:Col8a1 APN 16 57628364 missense unknown
R0383:Col8a1 UTSW 16 57632442 missense probably damaging 1.00
R0931:Col8a1 UTSW 16 57628568 missense unknown
R1912:Col8a1 UTSW 16 57627924 missense unknown
R3720:Col8a1 UTSW 16 57626916 missense unknown
R6252:Col8a1 UTSW 16 57627005 missense unknown
R7569:Col8a1 UTSW 16 57627192 missense unknown
R8242:Col8a1 UTSW 16 57632358 missense possibly damaging 0.56
R8726:Col8a1 UTSW 16 57628775 missense probably damaging 1.00
R9196:Col8a1 UTSW 16 57627367 missense unknown
R9209:Col8a1 UTSW 16 57626920 nonsense probably null
R9444:Col8a1 UTSW 16 57628092 nonsense probably null
R9508:Col8a1 UTSW 16 57628584 missense unknown
R9570:Col8a1 UTSW 16 57628176 missense unknown
Z1177:Col8a1 UTSW 16 57628238 missense unknown
Z1177:Col8a1 UTSW 16 57632450 missense probably damaging 1.00
Posted On 2014-02-04