Incidental Mutation 'R3720:Col8a1'
ID 258876
Institutional Source Beutler Lab
Gene Symbol Col8a1
Ensembl Gene ENSMUSG00000068196
Gene Name collagen, type VIII, alpha 1
Synonyms Col8a-1
MMRRC Submission 040711-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3720 (G1)
Quality Score 204
Status Validated
Chromosome 16
Chromosomal Location 57444621-57575100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57447279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 744 (M744V)
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: M744V
SMART Domains Protein: ENSMUSP00000086745
Gene: ENSMUSG00000068196
AA Change: M744V

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 0.0625 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 93% (40/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Appl1 G A 14: 26,649,801 (GRCm39) T575M probably damaging Het
Atp2c1 A T 9: 105,300,175 (GRCm39) M708K probably damaging Het
C9 A G 15: 6,512,600 (GRCm39) T241A possibly damaging Het
Ccrl2 T C 9: 110,885,432 (GRCm39) D22G probably benign Het
Cd47 A G 16: 49,688,205 (GRCm39) I42V probably benign Het
Cntnap5c T C 17: 58,637,197 (GRCm39) S1025P probably benign Het
Cstf3 A G 2: 104,483,431 (GRCm39) probably benign Het
Dnah8 G A 17: 31,073,872 (GRCm39) R4514H probably damaging Het
Dnai1 G A 4: 41,602,615 (GRCm39) R113H probably damaging Het
Fry T C 5: 150,378,037 (GRCm39) S410P probably damaging Het
Glt6d1 ACCC ACCCC 2: 25,685,179 (GRCm39) probably null Het
Gm10717 A G 9: 3,025,532 (GRCm39) Y39C probably benign Het
Hivep1 C T 13: 42,312,077 (GRCm39) T1439I probably benign Het
Iqgap2 T C 13: 95,805,036 (GRCm39) probably null Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kif1c T C 11: 70,594,597 (GRCm39) F86L possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Ldb1 C T 19: 46,033,331 (GRCm39) probably benign Het
Lrmda T A 14: 22,077,399 (GRCm39) probably benign Het
Med23 T C 10: 24,767,018 (GRCm39) L369S probably damaging Het
Mei1 A G 15: 81,987,405 (GRCm39) H399R possibly damaging Het
Myo1b G T 1: 51,815,505 (GRCm39) H614N possibly damaging Het
Neurl1b C T 17: 26,633,949 (GRCm39) T4M probably damaging Het
Or10al7 T C 17: 38,366,259 (GRCm39) Y66C probably damaging Het
Or5t15 T C 2: 86,681,935 (GRCm39) T36A probably benign Het
Polg G A 7: 79,106,539 (GRCm39) Q163* probably null Het
Pramel12 A G 4: 143,145,949 (GRCm39) T473A probably benign Het
Sdk2 G A 11: 113,691,070 (GRCm39) P1835L probably damaging Het
Slc35a5 A T 16: 44,967,685 (GRCm39) I138N probably damaging Het
Snx31 T C 15: 36,523,704 (GRCm39) probably null Het
Speg A T 1: 75,403,426 (GRCm39) H2590L probably damaging Het
Spink4 T A 4: 40,929,136 (GRCm39) C54S probably damaging Het
Swap70 A G 7: 109,869,254 (GRCm39) E349G probably damaging Het
Sybu A G 15: 44,536,028 (GRCm39) V766A possibly damaging Het
Tns3 G A 11: 8,442,999 (GRCm39) R455W probably damaging Het
Tnxb T A 17: 34,931,938 (GRCm39) V2157E possibly damaging Het
Trak2 A T 1: 58,985,404 (GRCm39) probably null Het
Trav18 C T 14: 54,069,074 (GRCm39) R39C possibly damaging Het
Uroc1 G A 6: 90,323,337 (GRCm39) V352M probably damaging Het
Zfp106 A C 2: 120,365,080 (GRCm39) I442M probably benign Het
Zfp935 G A 13: 62,602,846 (GRCm39) Q98* probably null 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
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'- TGCTGTGCACAGGACTAAAC -3'
(R):5'- CAACGTATGGGTTGCTCTCTTC -3'

Sequencing Primer
(F):5'- GCACAGGACTAAACATGCGTTTTAG -3'
(R):5'- ATGGGTTGCTCTCTTCAAGAAC -3'
Posted On 2015-01-23