Incidental Mutation 'R6252:Col8a1'
ID 506298
Institutional Source Beutler Lab
Gene Symbol Col8a1
Ensembl Gene ENSMUSG00000068196
Gene Name collagen, type VIII, alpha 1
Synonyms Col8a-1
MMRRC Submission 044369-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6252 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 57444621-57575100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57447368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 714 (V714A)
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: V714A
SMART Domains Protein: ENSMUSP00000086745
Gene: ENSMUSG00000068196
AA Change: V714A

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,122,305 (GRCm39) I393V probably benign Het
Agl C T 3: 116,580,878 (GRCm39) probably null Het
Ankrd11 T C 8: 123,620,561 (GRCm39) E1097G possibly damaging Het
Aoc1 A G 6: 48,883,015 (GRCm39) H297R probably benign Het
AW146154 G A 7: 41,130,811 (GRCm39) P102S probably benign Het
Cap1 A G 4: 122,766,193 (GRCm39) V15A probably benign Het
Cavin2 A G 1: 51,328,828 (GRCm39) N95S probably benign Het
Col11a2 T A 17: 34,261,186 (GRCm39) D45E probably null Het
Crispld1 A G 1: 17,819,731 (GRCm39) E243G probably benign Het
Daam1 G A 12: 72,035,723 (GRCm39) G964R probably damaging Het
Elapor2 T C 5: 9,460,693 (GRCm39) Y205H probably damaging Het
Epg5 T C 18: 78,028,382 (GRCm39) F1308L probably damaging Het
Eqtn A T 4: 94,796,006 (GRCm39) S232T probably damaging Het
Esyt1 T C 10: 128,347,771 (GRCm39) E973G probably benign Het
Fbxl13 T A 5: 21,826,499 (GRCm39) M96L possibly damaging Het
Frem2 A T 3: 53,479,869 (GRCm39) F1941L probably damaging Het
Gbf1 T C 19: 46,259,995 (GRCm39) V1050A probably benign Het
Hecw1 T C 13: 14,446,664 (GRCm39) H721R probably damaging Het
Idh1 T G 1: 65,207,690 (GRCm39) Q163P probably benign Het
Kctd15 A G 7: 34,341,348 (GRCm39) V193A probably benign Het
Npas3 A G 12: 54,115,673 (GRCm39) Y834C probably damaging Het
Opn4 C T 14: 34,316,788 (GRCm39) V334I probably benign Het
Or10w3 A T 19: 13,704,419 (GRCm39) S265C probably damaging Het
Pappa A G 4: 65,107,649 (GRCm39) M687V probably benign Het
Pcdhgc5 T C 18: 37,954,583 (GRCm39) F619S probably damaging Het
Pdlim2 G T 14: 70,405,137 (GRCm39) Q243K probably damaging Het
Pkd1 T C 17: 24,800,200 (GRCm39) L2987P probably damaging Het
Plcz1 A G 6: 139,953,329 (GRCm39) probably null Het
Prpf6 C T 2: 181,289,156 (GRCm39) A615V probably damaging Het
Pwp1 T C 10: 85,710,373 (GRCm39) V5A probably benign Het
Rsph10b T A 5: 143,873,939 (GRCm39) D13E possibly damaging Het
Slc44a3 T A 3: 121,307,386 (GRCm39) D200V probably damaging Het
Spata31h1 T C 10: 82,119,588 (GRCm39) Q4474R probably benign Het
St7l T C 3: 104,826,819 (GRCm39) probably null Het
Stc2 T A 11: 31,310,346 (GRCm39) D230V probably damaging Het
Syne2 C A 12: 76,016,210 (GRCm39) T3264K probably benign Het
Trp73 C A 4: 154,148,854 (GRCm39) D252Y probably damaging Het
Ubr1 T C 2: 120,737,376 (GRCm39) D1056G probably benign Het
Vcan C T 13: 89,839,339 (GRCm39) W1108* probably null Het
Zfp772 G T 7: 7,207,018 (GRCm39) S224R possibly damaging Het
Zfp804b A T 5: 6,819,478 (GRCm39) V1159E probably damaging Het
Zfp981 T G 4: 146,621,970 (GRCm39) S298R probably benign Het
Zmat3 A G 3: 32,395,770 (GRCm39) F246L possibly damaging Het
Zranb1 A G 7: 132,585,633 (GRCm39) T720A 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
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
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'- GTGCACAGGACTAAACATGC -3'
(R):5'- CCGGGTGTCTACTACTTTGC -3'

Sequencing Primer
(F):5'- GCACAGGACTAAACATGCGTTTTAG -3'
(R):5'- CTTATCATGTTCACTGCAAGGGAG -3'
Posted On 2018-03-15