Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03024:Col8a1'

408067

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) question?

Stock #

IGL03024

Quality Score

Status

Chromosome

Chromosomal Location

57444621-57575100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57448727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 261 (H261L)

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: H261L

SMART Domains

Protein: ENSMUSP00000086745
Gene: ENSMUSG00000068196
AA Change: H261L

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,212,464 (GRCm39)	F257L	probably benign	Het
Aaas	A	G	15: 102,258,926 (GRCm39)		probably benign	Het
AI661453	C	T	17: 47,757,513 (GRCm39)	R57W	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Bahd1	T	C	2: 118,746,597 (GRCm39)	V72A	probably damaging	Het
Bcl3	A	G	7: 19,543,059 (GRCm39)		probably benign	Het
Blnk	A	T	19: 40,982,445 (GRCm39)		probably benign	Het
Cd81	T	C	7: 142,621,089 (GRCm39)	I230T	probably benign	Het
Cdc20b	A	T	13: 113,227,576 (GRCm39)	R485S	possibly damaging	Het
Cenpp	C	A	13: 49,617,730 (GRCm39)	A273S	probably benign	Het
Cep295	A	G	9: 15,236,868 (GRCm39)	V2022A	probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cfap61	C	A	2: 145,781,919 (GRCm39)		probably benign	Het
Cyp2j5	A	T	4: 96,517,760 (GRCm39)	M484K	probably benign	Het
D930020B18Rik	T	C	10: 121,521,527 (GRCm39)		probably benign	Het
Dhdds	A	T	4: 133,710,160 (GRCm39)	L203Q	probably damaging	Het
Dusp6	A	G	10: 99,102,156 (GRCm39)	T381A	probably damaging	Het
Elp1	A	G	4: 56,774,686 (GRCm39)		probably null	Het
Fnbp4	A	G	2: 90,581,523 (GRCm39)	D192G	probably benign	Het
Gbp2	G	T	3: 142,337,780 (GRCm39)	V299F	probably damaging	Het
Gfpt1	G	T	6: 87,030,813 (GRCm39)	V66F	probably damaging	Het
Heatr1	T	C	13: 12,422,390 (GRCm39)		probably benign	Het
Irf8	T	A	8: 121,480,097 (GRCm39)	S112T	probably damaging	Het
Jmy	G	T	13: 93,635,707 (GRCm39)	N36K	probably damaging	Het
Kcnt2	T	C	1: 140,498,193 (GRCm39)	I866T	probably benign	Het
Kif1c	A	T	11: 70,596,015 (GRCm39)	M210L	probably damaging	Het
Kng1	G	A	16: 22,893,442 (GRCm39)	V272I	possibly damaging	Het
Lrig2	A	C	3: 104,401,389 (GRCm39)	M166R	probably damaging	Het
Mastl	A	G	2: 23,029,931 (GRCm39)	L265P	probably damaging	Het
Mmp27	A	G	9: 7,581,377 (GRCm39)	T547A	probably benign	Het
Myh4	T	C	11: 67,139,305 (GRCm39)	C541R	probably damaging	Het
Naip2	A	T	13: 100,325,862 (GRCm39)	F15L	possibly damaging	Het
Nipal1	G	T	5: 72,820,968 (GRCm39)		probably null	Het
Nrp2	A	T	1: 62,810,893 (GRCm39)	N645Y	probably damaging	Het
Or1j19	T	A	2: 36,676,858 (GRCm39)	F107Y	possibly damaging	Het
Or4g17	T	A	2: 111,209,935 (GRCm39)	F197I	possibly damaging	Het
Or7d9	T	A	9: 20,197,280 (GRCm39)	M103K	probably benign	Het
Plcl1	T	A	1: 55,734,946 (GRCm39)	S96T	probably damaging	Het
Prl2c1	A	C	13: 28,040,524 (GRCm39)	D139A	probably benign	Het
Prmt5	A	T	14: 54,754,055 (GRCm39)	M43K	possibly damaging	Het
Ptpn21	T	A	12: 98,646,315 (GRCm39)	M1048L	probably benign	Het
Ptprq	T	C	10: 107,521,427 (GRCm39)	E653G	possibly damaging	Het
Rbm6	A	G	9: 107,664,567 (GRCm39)	S689P	probably damaging	Het
Rtn3	A	G	19: 7,460,455 (GRCm39)		probably benign	Het
Shoc2	T	C	19: 53,991,458 (GRCm39)	I241T	probably benign	Het
Sipa1	A	T	19: 5,706,189 (GRCm39)	D380E	probably damaging	Het
Slc1a6	T	C	10: 78,650,442 (GRCm39)	V560A	probably benign	Het
Speer2	T	C	16: 69,655,003 (GRCm39)	H154R	possibly damaging	Het
Tlk1	A	T	2: 70,576,380 (GRCm39)	C247*	probably null	Het
Trim15	A	G	17: 37,177,785 (GRCm39)	L70P	probably damaging	Het
Ttc9b	T	C	7: 27,354,358 (GRCm39)	L148P	probably damaging	Het
Vwa8	C	T	14: 79,232,538 (GRCm39)	P627S	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
IGL01779:Col8a1	APN	16	57,448,726 (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

2016-08-02