Incidental Mutation 'R8242:Col8a1'
ID 637623
Institutional Source Beutler Lab
Gene Symbol Col8a1
Ensembl Gene ENSMUSG00000068196
Gene Name collagen, type VIII, alpha 1
Synonyms Col8a-1
MMRRC Submission 067647-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8242 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 57444621-57575100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57452721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 94 (P94Q)
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 possibly damaging
Transcript: ENSMUST00000089332
AA Change: P94Q

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000086745
Gene: ENSMUSG00000068196
AA Change: P94Q

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.2%
Validation Efficiency 98% (42/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,374,118 (GRCm39) Y736H possibly damaging Het
Akr1c12 G A 13: 4,322,269 (GRCm39) R258* probably null Het
Ankfn1 C G 11: 89,417,271 (GRCm39) probably null Het
Arfgef3 T C 10: 18,505,824 (GRCm39) K947E probably benign Het
Barx2 C A 9: 31,824,227 (GRCm39) R54L probably damaging Het
BC030500 T C 8: 59,365,388 (GRCm39) I13T unknown Het
Bcl11a T A 11: 24,113,208 (GRCm39) F184I probably benign Het
Cfap251 T A 5: 123,411,914 (GRCm39) D515E possibly damaging Het
Cfap43 A G 19: 47,885,808 (GRCm39) L269P probably damaging Het
Coq5 T C 5: 115,417,806 (GRCm39) V12A probably benign Het
Csmd1 A G 8: 16,760,670 (GRCm39) V155A probably benign Het
Defb22 A C 2: 152,328,007 (GRCm39) C59W probably damaging Het
Dsg3 A G 18: 20,669,980 (GRCm39) T665A possibly damaging Het
Gm10542 A G 18: 44,337,708 (GRCm39) D62G possibly damaging Het
Gm45861 G A 8: 28,038,821 (GRCm39) S987N unknown Het
Gm5591 T A 7: 38,219,746 (GRCm39) T376S probably benign Het
Hps3 C T 3: 20,068,290 (GRCm39) R588H possibly damaging Het
Itpr1 A T 6: 108,363,658 (GRCm39) D760V probably benign Het
Mfsd8 G A 3: 40,789,628 (GRCm39) R140C probably damaging Het
Mroh2b A T 15: 4,938,522 (GRCm39) R270S probably benign Het
Mroh4 G T 15: 74,488,157 (GRCm39) H350N possibly damaging Het
Nsd3 G T 8: 26,196,567 (GRCm39) E1183* probably null Het
Or13a19 T A 7: 139,902,696 (GRCm39) L28* probably null Het
Or4p7 A G 2: 88,222,418 (GRCm39) I276V possibly damaging Het
Or51f23b T C 7: 102,402,306 (GRCm39) M277V probably benign Het
Or8k53 A T 2: 86,177,426 (GRCm39) M228K probably damaging Het
Pex5l T A 3: 33,060,184 (GRCm39) T196S probably benign Het
Phlpp2 T C 8: 110,666,834 (GRCm39) V1121A probably benign Het
Rab3gap2 T A 1: 184,954,050 (GRCm39) S41T probably benign Het
Rad51c A T 11: 87,280,712 (GRCm39) N293K probably damaging Het
Rgs3 C A 4: 62,538,022 (GRCm39) Q18K probably benign Het
Ripk2 C T 4: 16,124,430 (GRCm39) G426D probably benign Het
Rpl22l1 T C 3: 28,860,914 (GRCm39) V44A possibly damaging Het
Sntb1 C T 15: 55,655,629 (GRCm39) A196T possibly damaging Het
Sorcs3 C T 19: 48,194,913 (GRCm39) R99W possibly damaging Het
Tdrd6 T C 17: 43,939,821 (GRCm39) E409G probably damaging Het
Timm50 A T 7: 28,007,836 (GRCm39) D105E probably benign Het
Tsga10 A T 1: 37,846,182 (GRCm39) S315T probably benign Het
Ttpa G A 4: 20,028,511 (GRCm39) C256Y probably damaging Het
Vinac1 G T 2: 128,881,313 (GRCm39) C204* probably null Het
Vmn2r13 T C 5: 109,322,872 (GRCm39) Y139C possibly damaging Het
Washc5 A G 15: 59,215,971 (GRCm39) S803P probably damaging Het
Zfp985 A C 4: 147,668,639 (GRCm39) K502N possibly damaging 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
R6252:Col8a1 UTSW 16 57,447,368 (GRCm39) missense unknown
R7569:Col8a1 UTSW 16 57,447,555 (GRCm39) missense unknown
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'- GGCCTGAAAGTCTTTTCCTCG -3'
(R):5'- TGGAATCAAGCCTCTGCCAC -3'

Sequencing Primer
(F):5'- GGCATTTGATTCACAGCAATAAC -3'
(R):5'- GCCTCTGCCACCTCAAATC -3'
Posted On 2020-07-13