Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01779:Col8a1'

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01779

Quality Score

Status

Chromosome

Chromosomal Location

57624258-57754737 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57628363 bp (GRCm38)

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: 81,387,870	I119F	probably damaging	Het
Akt1	C	T	12: 112,657,169	G286R	probably damaging	Het
Apof	A	G	10: 128,269,477	I167V	probably benign	Het
Arhgap15	A	G	2: 44,065,045	E220G	possibly damaging	Het
Clca3a2	T	A	3: 144,819,378	Y31F	possibly damaging	Het
Clmn	T	C	12: 104,782,140	I383V	probably benign	Het
Cntnap5b	A	G	1: 99,967,339	D112G	probably damaging	Het
Csmd3	A	T	15: 47,857,894	V1551D	probably benign	Het
Ddx60	G	A	8: 62,017,823	V1450M	possibly damaging	Het
Ethe1	A	T	7: 24,595,009	H79L	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gm11110	C	T	17: 57,102,087		probably benign	Het
Hs1bp3	C	T	12: 8,341,945	T349I	probably benign	Het
Ifna16	A	T	4: 88,676,645	I71N	probably damaging	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Kcnt1	T	A	2: 25,900,967	I511N	probably damaging	Het
Mlph	A	G	1: 90,942,950	M528V	probably benign	Het
Olfr646	A	G	7: 104,106,633	D118G	probably damaging	Het
Pprc1	T	A	19: 46,062,202	I52N	probably damaging	Het
Rfx1	T	A	8: 84,092,662		probably benign	Het
Rnf17	A	T	14: 56,462,063	I553F	probably benign	Het
Scaper	A	T	9: 55,892,240	H180Q	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc30a10	A	T	1: 185,464,179	Q346L	possibly damaging	Het
Stambpl1	A	T	19: 34,240,027	H422L	possibly damaging	Het
Trim67	G	A	8: 124,828,121	G701R	probably damaging	Het
Vipr1	T	C	9: 121,664,630	F249S	probably damaging	Het
Vmn2r117	G	T	17: 23,477,241	D397E	probably benign	Het

Other mutations in Col8a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Col8a1	APN	16	57627734	missense	unknown
IGL03024:Col8a1	APN	16	57628364	missense	unknown
R0383:Col8a1	UTSW	16	57632442	missense	probably damaging	1.00
R0931:Col8a1	UTSW	16	57628568	missense	unknown
R1912:Col8a1	UTSW	16	57627924	missense	unknown
R3720:Col8a1	UTSW	16	57626916	missense	unknown
R6252:Col8a1	UTSW	16	57627005	missense	unknown
R7569:Col8a1	UTSW	16	57627192	missense	unknown
R8242:Col8a1	UTSW	16	57632358	missense	possibly damaging	0.56
R8726:Col8a1	UTSW	16	57628775	missense	probably damaging	1.00
R9196:Col8a1	UTSW	16	57627367	missense	unknown
R9209:Col8a1	UTSW	16	57626920	nonsense	probably null
R9444:Col8a1	UTSW	16	57628092	nonsense	probably null
R9508:Col8a1	UTSW	16	57628584	missense	unknown
R9570:Col8a1	UTSW	16	57628176	missense	unknown
Z1177:Col8a1	UTSW	16	57628238	missense	unknown
Z1177:Col8a1	UTSW	16	57632450	missense	probably damaging	1.00

Posted On

2014-02-04