Mutagenetix > Incidental Mutation

Incidental Mutation 'R9508:Col8a1'

717967

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 #

R9508 (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 G at 57448947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 188 (I188L)

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: I188L

SMART Domains

Protein: ENSMUSP00000086745
Gene: ENSMUSG00000068196
AA Change: I188L

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: 99.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,617,484 (GRCm39)	V536I		Het
Adam18	A	G	8: 25,143,778 (GRCm39)	I187T	possibly damaging	Het
Adam24	A	G	8: 41,132,941 (GRCm39)	I136M	probably benign	Het
B3galt2	A	T	1: 143,522,280 (GRCm39)	I139F	possibly damaging	Het
Cacna1i	C	T	15: 80,279,372 (GRCm39)	P2038S	probably benign	Het
Cbll1	A	T	12: 31,544,685 (GRCm39)	I26N	probably damaging	Het
Cldn1	A	T	16: 26,179,619 (GRCm39)	Y149*	probably null	Het
Cnot11	T	C	1: 39,581,575 (GRCm39)	V372A	probably damaging	Het
Cnot2	A	G	10: 116,329,616 (GRCm39)	L458P	probably damaging	Het
Cnot4	T	C	6: 35,045,554 (GRCm39)	E219G		Het
Daam2	T	C	17: 49,765,618 (GRCm39)	K1095R	probably damaging	Het
Dnah9	T	C	11: 65,725,089 (GRCm39)	T4355A	probably damaging	Het
Dsg4	A	G	18: 20,604,070 (GRCm39)	I846V	probably damaging	Het
Ehd4	C	T	2: 119,921,966 (GRCm39)	G430E	probably damaging	Het
Fanci	T	C	7: 79,083,033 (GRCm39)	Y670H	possibly damaging	Het
Galnt10	T	A	11: 57,673,040 (GRCm39)	N465K	possibly damaging	Het
Glipr1l1	A	G	10: 111,912,015 (GRCm39)	N183S	probably damaging	Het
Gnl1	T	C	17: 36,299,625 (GRCm39)	Y599H	possibly damaging	Het
Gpr26	T	C	7: 131,585,830 (GRCm39)	S267P	probably benign	Het
Grk2	A	T	19: 4,341,636 (GRCm39)	N179K	probably damaging	Het
Igf2bp2	T	A	16: 21,898,845 (GRCm39)	M255L	probably benign	Het
Ighv2-6	T	C	12: 113,680,430 (GRCm39)	I70M	probably benign	Het
Igkv4-74	T	A	6: 69,161,942 (GRCm39)	N76Y	probably damaging	Het
Il11ra1	T	C	4: 41,767,527 (GRCm39)	V293A	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank2	A	T	9: 21,687,076 (GRCm39)	L582Q	probably damaging	Het
Kmt2b	T	C	7: 30,269,259 (GRCm39)	T2554A	probably damaging	Het
Mecom	T	A	3: 30,010,621 (GRCm39)	Y619F	probably benign	Het
Mknk1	A	G	4: 115,732,579 (GRCm39)	N269S	probably benign	Het
Mpp2	T	A	11: 101,951,692 (GRCm39)	E435D	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or2f2	A	G	6: 42,767,928 (GRCm39)	*318W	probably null	Het
Or5g9	A	G	2: 85,552,165 (GRCm39)	R139G	possibly damaging	Het
Or7a41	A	T	10: 78,870,933 (GRCm39)	Q101L	probably damaging	Het
P3h3	A	G	6: 124,830,012 (GRCm39)		probably null	Het
Paqr5	C	T	9: 61,880,079 (GRCm39)	V72M	probably benign	Het
Pilrb2	G	A	5: 137,869,261 (GRCm39)	T113I	probably damaging	Het
Pitpnm3	T	C	11: 72,003,121 (GRCm39)	E63G	probably damaging	Het
Ppp4r4	G	A	12: 103,542,561 (GRCm39)	V108M	possibly damaging	Het
Ptprf	G	T	4: 118,126,776 (GRCm39)	S46*	probably null	Het
Rab2a	T	C	4: 8,582,447 (GRCm39)	L143P		Het
Rassf7	C	T	7: 140,796,924 (GRCm39)	R46*	probably null	Het
Sec23a	T	C	12: 59,036,185 (GRCm39)	D393G	probably benign	Het
Semp2l2b	A	G	10: 21,942,816 (GRCm39)	V388A	probably damaging	Het
Serpinb9f	T	A	13: 33,518,515 (GRCm39)	F338L	probably benign	Het
Spg7	T	C	8: 123,800,623 (GRCm39)	V66A	probably damaging	Het
Sult2a4	C	T	7: 13,723,437 (GRCm39)	R27H	probably benign	Het
Sumo2	A	C	11: 115,414,538 (GRCm39)	Y95D	possibly damaging	Het
Tbx18	G	A	9: 87,587,926 (GRCm39)	S397F	probably damaging	Het
Ticam2	G	C	18: 46,693,748 (GRCm39)	P113R	probably damaging	Het
Timeless	A	G	10: 128,076,096 (GRCm39)	S63G	probably benign	Het
Tinag	C	T	9: 76,912,981 (GRCm39)	C276Y	probably damaging	Het
Tmem143	A	T	7: 45,565,630 (GRCm39)	K364*	probably null	Het
Tmem160	A	G	7: 16,186,840 (GRCm39)		probably benign	Het
Tmod4	G	C	3: 95,034,713 (GRCm39)	E154Q	probably benign	Het
Trpv1	G	T	11: 73,145,090 (GRCm39)	K725N		Het
Ttn	G	T	2: 76,715,978 (GRCm39)	A7767D	unknown	Het
Tubd1	T	A	11: 86,448,640 (GRCm39)	Y318N	probably damaging	Het
Ufd1	T	A	16: 18,643,802 (GRCm39)	M187K	possibly damaging	Het
Unc5c	A	G	3: 141,494,736 (GRCm39)	N424D	possibly damaging	Het
Usp19	C	T	9: 108,371,608 (GRCm39)	S329L	probably damaging	Het
Vps16	T	A	2: 130,284,361 (GRCm39)	I704N	possibly damaging	Het
Vwf	A	T	6: 125,532,471 (GRCm39)	I72F		Het
Ypel4	T	C	2: 84,567,304 (GRCm39)	S46P	probably damaging	Het
Zcchc8	A	C	5: 123,842,584 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TCTCTCCTTTGGGACCCTGAAG -3'
(R):5'- GAAGTACCGTTAGCCAGTTTGC -3'

Sequencing Primer
(F):5'- ACCCTGAAGGCCGGGAG -3'
(R):5'- TTTGCGCGGAGAACAAGGTC -3'

Posted On

2022-07-18