Incidental Mutation 'R0931:Col8a1'
ID 80923
Institutional Source Beutler Lab
Gene Symbol Col8a1
Ensembl Gene ENSMUSG00000068196
Gene Name collagen, type VIII, alpha 1
Synonyms Col8a-1
MMRRC Submission 039075-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0931 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 57444621-57575100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57448931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 193 (I193T)
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: I193T
SMART Domains Protein: ENSMUSP00000086745
Gene: ENSMUSG00000068196
AA Change: I193T

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
Meta Mutation Damage Score 0.0736 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,168,084 (GRCm39) A476T probably benign Het
Ajm1 T C 2: 25,468,501 (GRCm39) E470G possibly damaging Het
Aknad1 T C 3: 108,659,339 (GRCm39) S118P probably damaging Het
Arhgap20 A G 9: 51,728,041 (GRCm39) T85A probably benign Het
Astn2 A G 4: 65,566,530 (GRCm39) L824P probably damaging Het
Ccr1 C A 9: 123,763,827 (GRCm39) K234N probably damaging Het
Cfap46 T C 7: 139,235,757 (GRCm39) R203G probably damaging Het
Cpa2 T C 6: 30,552,070 (GRCm39) probably benign Het
Crabp1 T C 9: 54,675,717 (GRCm39) L100P possibly damaging Het
Cspp1 A T 1: 10,174,511 (GRCm39) R655W probably damaging Het
Ddx1 A T 12: 13,287,818 (GRCm39) probably benign Het
Dnah7b T G 1: 46,138,772 (GRCm39) probably benign Het
Dzip3 A G 16: 48,771,921 (GRCm39) S583P probably damaging Het
Exosc1 A G 19: 41,921,676 (GRCm39) probably benign Het
Fhip1a A G 3: 85,580,550 (GRCm39) S552P probably benign Het
Gas7 A T 11: 67,543,751 (GRCm39) probably benign Het
Gss A T 2: 155,409,609 (GRCm39) probably benign Het
Hdhd3 G A 4: 62,417,757 (GRCm39) R140* probably null Het
Irx2 T A 13: 72,779,675 (GRCm39) S320T possibly damaging Het
Kcnf1 T C 12: 17,225,142 (GRCm39) S360G possibly damaging Het
Klk1b4 T C 7: 43,860,480 (GRCm39) L166P probably damaging Het
Klri1 A T 6: 129,674,381 (GRCm39) probably benign Het
Mettl27 T C 5: 134,963,285 (GRCm39) probably benign Het
Myrfl T A 10: 116,675,354 (GRCm39) H193L probably benign Het
Nbas C T 12: 13,381,115 (GRCm39) probably benign Het
Or10ac1 C A 6: 42,515,020 (GRCm39) R312L probably benign Het
Or52b2 A T 7: 104,986,736 (GRCm39) Y62* probably null Het
Papolg A G 11: 23,832,257 (GRCm39) I177T probably damaging Het
Pdcd1 A G 1: 93,967,238 (GRCm39) V220A probably benign Het
Psmc1 T C 12: 100,085,341 (GRCm39) L234P probably damaging Het
Rasa2 A T 9: 96,434,457 (GRCm39) M610K possibly damaging Het
Ryr3 A G 2: 112,484,047 (GRCm39) F3930S probably damaging Het
Sacs G A 14: 61,440,944 (GRCm39) V997I probably benign Het
Setdb2 A G 14: 59,660,945 (GRCm39) probably benign Het
Ssu2 C A 6: 112,361,359 (GRCm39) L32F probably damaging Het
Taar1 A T 10: 23,797,181 (GRCm39) N293I probably damaging Het
Ttn A G 2: 76,611,846 (GRCm39) probably benign Het
Vmn2r49 T C 7: 9,720,325 (GRCm39) M389V possibly damaging Het
Wdr7 T C 18: 63,998,371 (GRCm39) V1106A probably benign Het
Zfp324 A G 7: 12,700,185 (GRCm39) I15V probably benign Het
Other mutations in Col8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Col8a1 APN 16 57,448,097 (GRCm39) missense unknown
IGL01779:Col8a1 APN 16 57,448,726 (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
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
Predicted Primers PCR Primer
(F):5'- TGGCTTTCCAACTCCAGGCATC -3'
(R):5'- GCCAGGTTTACCAGGTCATGGAATG -3'

Sequencing Primer
(F):5'- AGGAGGTCCTTGAACTCCTG -3'
(R):5'- GGTCATGGAATGCCTGGAATC -3'
Posted On 2013-11-07