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 |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01779
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
57444621-57575100 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57448726 bp (GRCm39)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
A |
T |
5: 81,535,717 (GRCm39) |
I119F |
probably damaging |
Het |
Akt1 |
C |
T |
12: 112,623,603 (GRCm39) |
G286R |
probably damaging |
Het |
Apof |
A |
G |
10: 128,105,346 (GRCm39) |
I167V |
probably benign |
Het |
Arhgap15 |
A |
G |
2: 43,955,057 (GRCm39) |
E220G |
possibly damaging |
Het |
Clca3a2 |
T |
A |
3: 144,525,139 (GRCm39) |
Y31F |
possibly damaging |
Het |
Clmn |
T |
C |
12: 104,748,399 (GRCm39) |
I383V |
probably benign |
Het |
Cntnap5b |
A |
G |
1: 99,895,064 (GRCm39) |
D112G |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,721,290 (GRCm39) |
V1551D |
probably benign |
Het |
Ddx60 |
G |
A |
8: 62,470,857 (GRCm39) |
V1450M |
possibly damaging |
Het |
Ethe1 |
A |
T |
7: 24,294,434 (GRCm39) |
H79L |
probably damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gm11110 |
C |
T |
17: 57,409,087 (GRCm39) |
|
probably benign |
Het |
Hs1bp3 |
C |
T |
12: 8,391,945 (GRCm39) |
T349I |
probably benign |
Het |
Ifna16 |
A |
T |
4: 88,594,882 (GRCm39) |
I71N |
probably damaging |
Het |
Il18bp |
A |
G |
7: 101,666,002 (GRCm39) |
Y59H |
possibly damaging |
Het |
Kcnt1 |
T |
A |
2: 25,790,979 (GRCm39) |
I511N |
probably damaging |
Het |
Mlph |
A |
G |
1: 90,870,672 (GRCm39) |
M528V |
probably benign |
Het |
Or52d1 |
A |
G |
7: 103,755,840 (GRCm39) |
D118G |
probably damaging |
Het |
Pprc1 |
T |
A |
19: 46,050,641 (GRCm39) |
I52N |
probably damaging |
Het |
Rfx1 |
T |
A |
8: 84,819,291 (GRCm39) |
|
probably benign |
Het |
Rnf17 |
A |
T |
14: 56,699,520 (GRCm39) |
I553F |
probably benign |
Het |
Scaper |
A |
T |
9: 55,799,524 (GRCm39) |
H180Q |
probably benign |
Het |
Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
Slc30a10 |
A |
T |
1: 185,196,376 (GRCm39) |
Q346L |
possibly damaging |
Het |
Stambpl1 |
A |
T |
19: 34,217,427 (GRCm39) |
H422L |
possibly damaging |
Het |
Trim67 |
G |
A |
8: 125,554,860 (GRCm39) |
G701R |
probably damaging |
Het |
Vipr1 |
T |
C |
9: 121,493,696 (GRCm39) |
F249S |
probably damaging |
Het |
Vmn2r117 |
G |
T |
17: 23,696,215 (GRCm39) |
D397E |
probably benign |
Het |
|
Other mutations in Col8a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01543:Col8a1
|
APN |
16 |
57,448,097 (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 |
|
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 |
|
|
Posted On |
2014-02-04 |