Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02665:Itgb8'

302713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgb8

Ensembl Gene

ENSMUSG00000025321

Gene Name

integrin beta 8

Synonyms

4832412O06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02665

Quality Score

Status

Chromosome

Chromosomal Location

119121757-119202537 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 119130600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026360]

AlphaFold

Q0VBD0

Predicted Effect

probably benign
Transcript: ENSMUST00000026360

SMART Domains

Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321

Domain	Start	End	E-Value	Type
Blast:INB	1	44	9e-8	BLAST
PSI	46	95	6.65e-9	SMART
INB	54	469	4.31e-237	SMART
VWA	146	352	2.15e-1	SMART
Blast:INB	494	532	9e-12	BLAST
EGF	551	583	1.53e1	SMART
transmembrane domain	680	702	N/A	INTRINSIC

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 is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene either die before E11.5 as a result of circulatory abnormalities in the placenta or die within the first for days after birth and display intracerebral hemorrhaging. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cenpc1	T	C	5: 86,194,262 (GRCm39)	N168S	probably benign	Het
Cep295	A	G	9: 15,237,928 (GRCm39)		probably benign	Het
Defb20	A	G	2: 152,321,496 (GRCm39)	Y91C	probably damaging	Het
Dio2	T	C	12: 90,696,427 (GRCm39)	D187G	possibly damaging	Het
Fat4	G	A	3: 39,056,985 (GRCm39)	R4227Q	probably benign	Het
Fsip2	G	A	2: 82,823,407 (GRCm39)	G6380D	probably damaging	Het
Gm5916	A	T	9: 36,039,962 (GRCm39)	F9I	possibly damaging	Het
Havcr2	T	A	11: 46,370,221 (GRCm39)	V216E	probably benign	Het
Hdac7	G	A	15: 97,694,838 (GRCm39)		probably benign	Het
Kyat3	A	G	3: 142,440,227 (GRCm39)		probably null	Het
Lcn3	G	A	2: 25,656,416 (GRCm39)	A99T	possibly damaging	Het
Lox	T	A	18: 52,658,316 (GRCm39)		probably benign	Het
Lrrc7	A	G	3: 157,866,742 (GRCm39)	S1000P	probably damaging	Het
Muc5ac	T	C	7: 141,344,823 (GRCm39)	F98S	possibly damaging	Het
Nsd1	T	C	13: 55,443,996 (GRCm39)	Y1835H	probably damaging	Het
Pnpla3	A	G	15: 84,055,406 (GRCm39)	D104G	probably benign	Het
Rab3ip	T	A	10: 116,773,453 (GRCm39)	Q120L	probably benign	Het
Ranbp6	T	A	19: 29,790,301 (GRCm39)	Q17L	possibly damaging	Het
Serpinb9g	T	C	13: 33,679,086 (GRCm39)	C319R	possibly damaging	Het
Ska3	T	C	14: 58,059,529 (GRCm39)	K99E	probably damaging	Het
Srcap	T	A	7: 127,140,075 (GRCm39)	S1330R	probably damaging	Het
Vmn2r82	T	A	10: 79,215,205 (GRCm39)	M396K	probably damaging	Het
Vmn2r87	T	G	10: 130,333,049 (GRCm39)	D67A	probably benign	Het

Other mutations in Itgb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Itgb8	APN	12	119,153,561 (GRCm39)	missense	probably damaging	0.99
IGL01859:Itgb8	APN	12	119,153,680 (GRCm39)	missense	probably damaging	1.00
IGL02555:Itgb8	APN	12	119,153,616 (GRCm39)	missense	probably damaging	1.00
IGL02732:Itgb8	APN	12	119,127,088 (GRCm39)	missense	probably benign	0.09
R0090:Itgb8	UTSW	12	119,166,298 (GRCm39)	missense	probably benign	0.00
R0245:Itgb8	UTSW	12	119,154,290 (GRCm39)	missense	probably damaging	1.00
R0629:Itgb8	UTSW	12	119,166,216 (GRCm39)	missense	probably benign	0.38
R1158:Itgb8	UTSW	12	119,166,231 (GRCm39)	missense	probably damaging	1.00
R1355:Itgb8	UTSW	12	119,134,738 (GRCm39)	missense	probably benign	0.03
R1370:Itgb8	UTSW	12	119,134,738 (GRCm39)	missense	probably benign	0.03
R1604:Itgb8	UTSW	12	119,166,265 (GRCm39)	missense	probably damaging	1.00
R1689:Itgb8	UTSW	12	119,134,555 (GRCm39)	missense	probably benign	0.38
R1782:Itgb8	UTSW	12	119,155,853 (GRCm39)	missense	probably damaging	0.99
R1789:Itgb8	UTSW	12	119,166,190 (GRCm39)	missense	probably benign
R2113:Itgb8	UTSW	12	119,154,347 (GRCm39)	missense	probably damaging	1.00
R2301:Itgb8	UTSW	12	119,166,190 (GRCm39)	missense	probably benign
R3696:Itgb8	UTSW	12	119,140,746 (GRCm39)	missense	probably damaging	0.99
R3797:Itgb8	UTSW	12	119,127,204 (GRCm39)	missense	possibly damaging	0.92
R3911:Itgb8	UTSW	12	119,131,740 (GRCm39)	missense	possibly damaging	0.65
R4904:Itgb8	UTSW	12	119,134,606 (GRCm39)	missense	probably benign	0.00
R5391:Itgb8	UTSW	12	119,134,476 (GRCm39)	missense	probably damaging	1.00
R5395:Itgb8	UTSW	12	119,134,476 (GRCm39)	missense	probably damaging	1.00
R5444:Itgb8	UTSW	12	119,201,573 (GRCm39)	utr 5 prime	probably benign
R5461:Itgb8	UTSW	12	119,131,740 (GRCm39)	missense	probably benign	0.28
R5610:Itgb8	UTSW	12	119,134,429 (GRCm39)	missense	probably damaging	1.00
R5669:Itgb8	UTSW	12	119,154,363 (GRCm39)	missense	probably damaging	1.00
R5877:Itgb8	UTSW	12	119,166,271 (GRCm39)	missense	probably benign	0.37
R6581:Itgb8	UTSW	12	119,126,950 (GRCm39)	missense	probably benign	0.41
R6597:Itgb8	UTSW	12	119,137,133 (GRCm39)	missense	possibly damaging	0.94
R6631:Itgb8	UTSW	12	119,144,712 (GRCm39)	nonsense	probably null
R6971:Itgb8	UTSW	12	119,154,366 (GRCm39)	missense	probably damaging	1.00
R7124:Itgb8	UTSW	12	119,166,159 (GRCm39)	nonsense	probably null
R7246:Itgb8	UTSW	12	119,131,785 (GRCm39)	missense	probably damaging	1.00
R7282:Itgb8	UTSW	12	119,201,443 (GRCm39)	missense	probably benign	0.00
R7299:Itgb8	UTSW	12	119,166,196 (GRCm39)	missense	probably benign	0.00
R7340:Itgb8	UTSW	12	119,155,939 (GRCm39)	missense	probably benign	0.45
R7373:Itgb8	UTSW	12	119,166,210 (GRCm39)	missense	probably benign	0.01
R7766:Itgb8	UTSW	12	119,127,094 (GRCm39)	missense	probably damaging	1.00
R7855:Itgb8	UTSW	12	119,130,507 (GRCm39)	missense	probably benign
R8195:Itgb8	UTSW	12	119,131,905 (GRCm39)	missense	probably damaging	1.00
R8354:Itgb8	UTSW	12	119,134,513 (GRCm39)	missense	probably benign	0.01
R8454:Itgb8	UTSW	12	119,134,513 (GRCm39)	missense	probably benign	0.01
R9151:Itgb8	UTSW	12	119,130,535 (GRCm39)	missense	probably benign	0.30
R9583:Itgb8	UTSW	12	119,153,708 (GRCm39)	missense	possibly damaging	0.91
R9588:Itgb8	UTSW	12	119,140,754 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16