Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01543:Col8a1'

90219

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 #

IGL01543

Quality Score

Status

Chromosome

Chromosomal Location

57444621-57575100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57448097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 471 (P471L)

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: P471L

SMART Domains

Protein: ENSMUSP00000086745
Gene: ENSMUSG00000068196
AA Change: P471L

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	T	C	3: 59,932,097 (GRCm39)	I204T	probably benign	Het
Abhd16a	T	C	17: 35,310,013 (GRCm39)	S69P	probably damaging	Het
Ampd1	C	T	3: 103,003,029 (GRCm39)	T582I	probably benign	Het
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Arid1a	A	T	4: 133,409,033 (GRCm39)	F1825I	unknown	Het
Asxl1	G	A	2: 153,243,404 (GRCm39)	G1318D	probably benign	Het
B4galnt3	G	A	6: 120,186,273 (GRCm39)	H807Y	probably benign	Het
Bpifb5	G	T	2: 154,075,169 (GRCm39)	V366F	possibly damaging	Het
Caskin1	T	C	17: 24,723,522 (GRCm39)	V770A	probably benign	Het
Ccdc152	G	A	15: 3,327,606 (GRCm39)	T57I	possibly damaging	Het
Ccs	T	C	19: 4,884,269 (GRCm39)	E61G	possibly damaging	Het
Chsy3	G	A	18: 59,543,472 (GRCm39)	W870*	probably null	Het
Cyp2j6	A	C	4: 96,414,161 (GRCm39)	V368G	possibly damaging	Het
Dnajc3	T	C	14: 119,198,274 (GRCm39)		probably null	Het
Dpep3	A	T	8: 106,702,814 (GRCm39)	M316K	probably damaging	Het
Galntl5	A	G	5: 25,400,349 (GRCm39)	E126G	probably damaging	Het
Gli1	T	C	10: 127,168,347 (GRCm39)	N502S	probably damaging	Het
Hus1	A	G	11: 8,950,082 (GRCm39)	L213P	probably benign	Het
Hypk	A	G	2: 121,287,776 (GRCm39)		probably null	Het
Igkv4-59	T	A	6: 69,415,345 (GRCm39)	Y70F	probably damaging	Het
Impdh1	A	C	6: 29,203,377 (GRCm39)	V14G	probably damaging	Het
Kif26b	A	G	1: 178,506,526 (GRCm39)	M201V	probably benign	Het
Macf1	A	G	4: 123,295,250 (GRCm39)	I5323T	probably damaging	Het
Mmp16	C	T	4: 18,051,743 (GRCm39)	A244V	probably damaging	Het
Obscn	T	C	11: 58,932,943 (GRCm39)	D5619G	probably benign	Het
Or2ag20	T	C	7: 106,465,125 (GRCm39)	S313P	probably benign	Het
Pcdh7	T	C	5: 57,878,107 (GRCm39)	V554A	probably damaging	Het
Piezo2	T	C	18: 63,203,101 (GRCm39)	E1513G	probably damaging	Het
Rab6b	A	G	9: 103,039,837 (GRCm39)	D75G	probably damaging	Het
Ryr1	T	C	7: 28,790,501 (GRCm39)	Y1435C	probably damaging	Het
Scarf2	A	G	16: 17,620,413 (GRCm39)	N81S	probably damaging	Het
Six5	G	A	7: 18,830,272 (GRCm39)	A300T	possibly damaging	Het
Skap2	T	A	6: 51,989,375 (GRCm39)	N3Y	possibly damaging	Het
Skint6	A	T	4: 112,757,160 (GRCm39)	S734T	probably benign	Het
Slc15a4	A	C	5: 127,680,830 (GRCm39)	H396Q	probably benign	Het
Slco6c1	A	G	1: 97,053,553 (GRCm39)	M116T	possibly damaging	Het
Slfn9	T	C	11: 82,878,775 (GRCm39)	D118G	probably benign	Het
Trim3	T	C	7: 105,262,520 (GRCm39)	D546G	probably damaging	Het
Trpa1	A	G	1: 14,970,300 (GRCm39)	L362P	probably damaging	Het
Vasn	A	G	16: 4,467,756 (GRCm39)	T568A	possibly damaging	Het
Vwa5b2	A	G	16: 20,414,466 (GRCm39)	M281V	probably benign	Het
Wwp2	A	G	8: 108,210,000 (GRCm39)	E126G	probably damaging	Het
Zfp398	G	A	6: 47,842,997 (GRCm39)	G350S	probably damaging	Het

Other mutations in Col8a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-12-03