Mutagenetix > Incidental Mutation

Incidental Mutation 'R9570:Col8a1'

721954

Institutional Source

Beutler Lab

Gene Symbol

Col8a1

Ensembl Gene

ENSMUSG00000068196

Gene Name

collagen, type VIII, alpha 1

Synonyms

Col8a-1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9570 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57444621-57575100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57448539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 324 (I324F)

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: I324F

SMART Domains

Protein: ENSMUSP00000086745
Gene: ENSMUSG00000068196
AA Change: I324F

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	T	8: 41,277,687 (GRCm39)	T26I	probably benign	Het
Adgrg7	A	G	16: 56,570,813 (GRCm39)	L405P	probably damaging	Het
Ankle1	A	G	8: 71,859,424 (GRCm39)	D106G	probably damaging	Het
Ankrd17	G	T	5: 90,401,536 (GRCm39)	D1609E		Het
Anpep	A	G	7: 79,476,661 (GRCm39)	V772A	probably benign	Het
Anxa8	T	C	14: 33,814,509 (GRCm39)	V115A	possibly damaging	Het
Aoc1	T	C	6: 48,882,772 (GRCm39)	F216S	probably damaging	Het
Aplf	T	A	6: 87,640,781 (GRCm39)	E76V	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arhgap42	T	A	9: 9,148,209 (GRCm39)	Y120F		Het
Atg2a	T	A	19: 6,305,749 (GRCm39)	H1316Q	probably benign	Het
Atp8b3	A	G	10: 80,361,822 (GRCm39)	F743S	probably benign	Het
Best1	A	T	19: 9,970,331 (GRCm39)	W94R	probably damaging	Het
Catsper3	T	C	13: 55,953,669 (GRCm39)		probably null	Het
Ccdc80	A	T	16: 44,915,449 (GRCm39)	E68D	probably benign	Het
Coro1c	G	A	5: 114,003,816 (GRCm39)	R68*	probably null	Het
Dennd4c	A	G	4: 86,747,208 (GRCm39)	D1464G	possibly damaging	Het
Dgat2	C	T	7: 98,818,926 (GRCm39)	V77I	possibly damaging	Het
Ecpas	G	A	4: 58,832,796 (GRCm39)	R855*	probably null	Het
Ednra	A	C	8: 78,393,961 (GRCm39)	N378K	possibly damaging	Het
Eif1ad4	A	G	12: 87,862,534 (GRCm39)	D132G	unknown	Het
Eml5	A	T	12: 98,782,243 (GRCm39)	D178E	probably benign	Het
Ethe1	G	T	7: 24,293,236 (GRCm39)		probably benign	Het
Fgf21	C	T	7: 45,264,594 (GRCm39)	R46Q	probably damaging	Het
Flt3	C	T	5: 147,309,424 (GRCm39)	V198M	possibly damaging	Het
Fryl	T	C	5: 73,179,498 (GRCm39)	N2970D	probably benign	Het
Gtf2e2	T	A	8: 34,252,076 (GRCm39)	D197E	probably damaging	Het
Gtf2i	G	A	5: 134,294,627 (GRCm39)	R362W	probably damaging	Het
Gtpbp10	C	T	5: 5,596,382 (GRCm39)	G188R	probably damaging	Het
Gzmc	A	C	14: 56,469,042 (GRCm39)	S226A	probably benign	Het
Hhatl	A	T	9: 121,613,282 (GRCm39)	V471D	possibly damaging	Het
Hoxd11	T	C	2: 74,512,812 (GRCm39)	S26P	possibly damaging	Het
Ighv1-85	A	T	12: 115,963,794 (GRCm39)	W69R	probably benign	Het
Kcnk3	T	C	5: 30,779,433 (GRCm39)	L161P	possibly damaging	Het
Klk6	A	G	7: 43,477,967 (GRCm39)	D113G	probably damaging	Het
Map3k5	A	G	10: 19,876,314 (GRCm39)	I158V	probably benign	Het
Marchf8	T	A	6: 116,382,639 (GRCm39)	M434K	probably benign	Het
Mcc	T	C	18: 44,578,925 (GRCm39)	R828G	probably damaging	Het
Muc4	A	T	16: 32,569,695 (GRCm39)	T252S	possibly damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nme7	A	G	1: 164,206,961 (GRCm39)	D282G	probably benign	Het
Npdc1	G	T	2: 25,298,312 (GRCm39)	A228S	probably benign	Het
Nrbp1	T	A	5: 31,401,272 (GRCm39)	S49R	probably damaging	Het
Ntan1	T	C	16: 13,637,248 (GRCm39)	V10A	possibly damaging	Het
Or10a3	A	G	7: 108,480,504 (GRCm39)	V103A	possibly damaging	Het
Or10b1	T	C	10: 78,356,084 (GRCm39)	V214A	probably benign	Het
Or51b4	A	G	7: 103,530,856 (GRCm39)	V198A	probably benign	Het
Pdcd2l	T	C	7: 33,892,401 (GRCm39)	D156G	probably benign	Het
Pde11a	A	G	2: 75,877,157 (GRCm39)	S771P	probably damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkd1l1	T	A	11: 8,840,697 (GRCm39)	E1237V		Het
Pkp2	A	T	16: 16,078,278 (GRCm39)	T507S	possibly damaging	Het
Polm	A	G	11: 5,779,713 (GRCm39)	Y362H	probably damaging	Het
Pramel12	A	T	4: 143,144,514 (GRCm39)	M287L	probably benign	Het
Prcd	C	T	11: 116,550,583 (GRCm39)	S85F	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptger1	T	C	8: 84,395,461 (GRCm39)	W313R	probably damaging	Het
Ptpn23	T	C	9: 110,227,217 (GRCm39)	E44G	probably damaging	Het
Rai1	A	G	11: 60,076,568 (GRCm39)	T211A	probably benign	Het
Rgl1	C	A	1: 152,430,082 (GRCm39)	D234Y	possibly damaging	Het
Rlf	A	G	4: 121,007,087 (GRCm39)	V741A	possibly damaging	Het
Rnaseh2b	T	C	14: 62,597,978 (GRCm39)		probably null	Het
Selenon	C	T	4: 134,270,055 (GRCm39)	R383H	probably benign	Het
Sh3rf2	A	T	18: 42,272,620 (GRCm39)	H368L	possibly damaging	Het
Slc9c1	A	T	16: 45,380,705 (GRCm39)	I544L	probably benign	Het
Smarca4	A	G	9: 21,580,849 (GRCm39)	E993G	probably damaging	Het
Stab1	T	A	14: 30,864,638 (GRCm39)	I1966F	probably benign	Het
Stard9	G	A	2: 120,534,714 (GRCm39)	S3657N	probably benign	Het
Tex15	G	A	8: 34,067,309 (GRCm39)	M2246I	probably damaging	Het
Ttc41	A	T	10: 86,549,598 (GRCm39)	N264I	possibly damaging	Het
Use1	T	A	8: 71,820,473 (GRCm39)	M96K	possibly damaging	Het
Vmn1r201	T	C	13: 22,659,236 (GRCm39)	I150T	probably damaging	Het
Vmn1r34	T	C	6: 66,614,718 (GRCm39)	I7V	probably benign	Het
Vps8	T	A	16: 21,462,953 (GRCm39)	F1406Y	probably benign	Het
Zfp788	A	T	7: 41,300,006 (GRCm39)	T881S	possibly damaging	Het
Zfp804a	C	T	2: 82,088,844 (GRCm39)	T891I	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
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
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'- AACCAATAGCACCTGGAGGG -3'
(R):5'- TCCTGGACCAGTTGGACTAC -3'

Sequencing Primer
(F):5'- CATTCCAGGAGCACCAATGGG -3'
(R):5'- ACCAGTTGGACTACCGGGAG -3'

Posted On

2022-08-09