Mutagenetix > Incidental Mutation

Incidental Mutation 'R0090:Itgb8'

20167

Institutional Source

Beutler Lab

Gene Symbol

Itgb8

Ensembl Gene

ENSMUSG00000025321

Gene Name

integrin beta 8

Synonyms

4832412O06Rik

MMRRC Submission

038377-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0090 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

119121757-119202537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119166298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 78 (S78P)

Ref Sequence

ENSEMBL: ENSMUSP00000026360 (fasta)

Gene Model

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

AlphaFold

Q0VBD0

Predicted Effect

probably benign
Transcript: ENSMUST00000026360
AA Change: S78P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: S78P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151023

Meta Mutation Damage Score

0.0680

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.7%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4933427I04Rik	A	G	4: 123,754,775 (GRCm39)	T230A	possibly damaging	Het
Acsm1	T	C	7: 119,261,412 (GRCm39)		probably benign	Het
Acta1	T	C	8: 124,620,396 (GRCm39)	N14S	probably damaging	Het
Aff4	A	G	11: 53,283,609 (GRCm39)	T362A	probably benign	Het
Aggf1	A	G	13: 95,501,467 (GRCm39)	I305T	probably benign	Het
Ap4b1	A	G	3: 103,727,745 (GRCm39)	D325G	possibly damaging	Het
Ap4e1	C	T	2: 126,906,905 (GRCm39)	T1055I	possibly damaging	Het
Arhgef2	A	T	3: 88,546,655 (GRCm39)	Q496L	probably damaging	Het
Arhgef28	A	G	13: 98,211,618 (GRCm39)	F122L	probably damaging	Het
Baiap3	G	A	17: 25,469,044 (GRCm39)		probably benign	Het
Casp8ap2	T	A	4: 32,640,327 (GRCm39)	H460Q	probably damaging	Het
Casz1	A	G	4: 149,017,868 (GRCm39)	T386A	probably benign	Het
Cd53	A	T	3: 106,674,725 (GRCm39)	V114E	possibly damaging	Het
Celsr2	A	G	3: 108,300,643 (GRCm39)		probably benign	Het
Cfap300	T	A	9: 8,027,184 (GRCm39)	N118I	probably benign	Het
Chaf1b	G	T	16: 93,684,012 (GRCm39)	A88S	possibly damaging	Het
Cldn10	A	T	14: 119,111,612 (GRCm39)	Y194F	probably damaging	Het
Clec2e	A	C	6: 129,072,181 (GRCm39)		probably null	Het
Cmpk2	A	T	12: 26,528,021 (GRCm39)	T413S	probably benign	Het
Col9a1	T	A	1: 24,262,643 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,405,139 (GRCm39)	Q2468K	probably benign	Het
Ddx60	A	G	8: 62,395,327 (GRCm39)	D88G	probably damaging	Het
Dnah8	A	G	17: 31,003,064 (GRCm39)	R3588G	probably benign	Het
Ect2	T	C	3: 27,169,625 (GRCm39)	T774A	probably benign	Het
Ect2	C	T	3: 27,192,651 (GRCm39)	E431K	probably null	Het
Ern1	A	G	11: 106,296,649 (GRCm39)	V767A	probably damaging	Het
Fbln1	A	C	15: 85,108,489 (GRCm39)	E75A	possibly damaging	Het
Fgf5	C	T	5: 98,409,846 (GRCm39)	R132*	probably null	Het
Folh1	T	C	7: 86,375,076 (GRCm39)		probably benign	Het
Gdf15	A	T	8: 71,082,334 (GRCm39)	H257Q	probably damaging	Het
Ghitm	T	C	14: 36,844,176 (GRCm39)	T322A	probably benign	Het
Gm5709	A	G	3: 59,526,192 (GRCm39)		noncoding transcript	Het
Hbb-y	C	T	7: 103,501,950 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,316,210 (GRCm39)	D3771V	probably damaging	Het
Hspa12a	T	C	19: 58,787,941 (GRCm39)	D627G	probably benign	Het
Idh2	T	C	7: 79,747,662 (GRCm39)	E286G	probably damaging	Het
Idh3b	C	A	2: 130,122,899 (GRCm39)	A297S	probably benign	Het
Igsf3	A	G	3: 101,342,968 (GRCm39)	E535G	probably damaging	Het
Ilf3	T	A	9: 21,306,710 (GRCm39)	D314E	probably damaging	Het
Itih5	G	A	2: 10,169,495 (GRCm39)	V31I	probably benign	Het
Kcnj2	T	C	11: 110,963,853 (GRCm39)	V415A	probably benign	Het
Kin	A	G	2: 10,090,584 (GRCm39)	Q53R	possibly damaging	Het
Krt78	A	T	15: 101,856,272 (GRCm39)	M513K	probably benign	Het
Krtap4-8	A	T	11: 99,671,312 (GRCm39)		probably benign	Het
Ltbr	T	C	6: 125,286,412 (GRCm39)		probably benign	Het
Mgat4a	G	A	1: 37,529,414 (GRCm39)	T146I	probably damaging	Het
Mrps2	G	C	2: 28,358,268 (GRCm39)	W19C	probably damaging	Het
Mthfs	T	C	9: 89,093,344 (GRCm39)	S33P	probably damaging	Het
Myh6	T	C	14: 55,196,161 (GRCm39)	D546G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ndst2	T	C	14: 20,777,335 (GRCm39)	T553A	probably damaging	Het
Nlrp12	T	C	7: 3,288,664 (GRCm39)	E616G	probably damaging	Het
Nrde2	T	C	12: 100,095,545 (GRCm39)		probably benign	Het
Nup210l	G	A	3: 90,119,086 (GRCm39)	V1832I	probably benign	Het
Or1e1c	G	A	11: 73,266,402 (GRCm39)	V276I	probably benign	Het
Or4k77	A	T	2: 111,199,639 (GRCm39)	I221F	probably damaging	Het
Pcm1	A	T	8: 41,709,078 (GRCm39)	E9D	probably damaging	Het
Pear1	A	T	3: 87,661,649 (GRCm39)	D541E	possibly damaging	Het
Peg10	A	G	6: 4,756,063 (GRCm39)		probably benign	Het
Prss1	G	A	6: 41,438,166 (GRCm39)	R31Q	probably benign	Het
Ptpn13	T	C	5: 103,717,369 (GRCm39)	V1837A	probably damaging	Het
Rasgrp3	A	G	17: 75,805,456 (GRCm39)	D149G	probably damaging	Het
Reg3d	A	T	6: 78,355,466 (GRCm39)	H8Q	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Sacs	T	A	14: 61,442,889 (GRCm39)	L1645H	probably damaging	Het
Slc16a5	A	T	11: 115,355,751 (GRCm39)	S71C	probably damaging	Het
Slc9a3	A	G	13: 74,306,847 (GRCm39)	E324G	probably damaging	Het
Smgc	T	C	15: 91,743,960 (GRCm39)	V574A	possibly damaging	Het
Stac3	C	T	10: 127,339,799 (GRCm39)		probably benign	Het
Supv3l1	A	G	10: 62,265,485 (GRCm39)	L685P	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tas2r125	G	T	6: 132,887,361 (GRCm39)	A250S	probably benign	Het
Tdrd6	C	T	17: 43,939,132 (GRCm39)	V639I	probably benign	Het
Thap12	T	G	7: 98,365,100 (GRCm39)	W423G	probably damaging	Het
Tmem245	T	C	4: 56,899,410 (GRCm39)	I217V	probably benign	Het
Trip12	T	A	1: 84,709,857 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,468,317 (GRCm39)	V102A	probably benign	Het
Ubap1	T	C	4: 41,379,826 (GRCm39)	S347P	probably damaging	Het
Usp10	C	T	8: 120,679,935 (GRCm39)	Q612*	probably null	Het
Vmn2r72	T	C	7: 85,404,084 (GRCm39)	I36V	probably benign	Het
Vps37a	T	C	8: 40,980,030 (GRCm39)	I63T	possibly damaging	Het
Whrn	C	A	4: 63,350,969 (GRCm39)	R9L	possibly damaging	Het
Xrcc1	T	C	7: 24,269,642 (GRCm39)	Y401H	probably damaging	Het
Ylpm1	GCCTAAGCAGCAACCTAAG	GCCTAAG	12: 85,075,814 (GRCm39)		probably benign	Het
Zfhx3	G	A	8: 109,676,689 (GRCm39)	D2580N	possibly damaging	Het
Zfhx4	A	G	3: 5,308,685 (GRCm39)	N637S	probably damaging	Het
Zfp268	A	T	4: 145,349,195 (GRCm39)	K211*	probably null	Het
Zyg11a	A	T	4: 108,058,544 (GRCm39)		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
IGL02665:Itgb8	APN	12	119,130,600 (GRCm39)	splice site	probably benign
IGL02732:Itgb8	APN	12	119,127,088 (GRCm39)	missense	probably benign	0.09
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

Predicted Primers

PCR Primer
(F):5'- TGCAGTTGGACTGAGACTTCTCCC -3'
(R):5'- GGAGTTGTTCTCATCTCCCAAGCAC -3'

Sequencing Primer
(F):5'- GAGACTTCTCCCGGTGTCAC -3'
(R):5'- GTTGTCACAGAGGTGATTTGCTA -3'

Posted On

2013-04-11