Mutagenetix > Incidental Mutation

Incidental Mutation 'R7282:Itgb8'

565756

Institutional Source

Beutler Lab

Gene Symbol

Itgb8

Ensembl Gene

ENSMUSG00000025321

Gene Name

integrin beta 8

Synonyms

4832412O06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7282 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119121757-119202537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119201443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 31 (W31R)

Ref Sequence

ENSEMBL: ENSMUSP00000026360 (fasta)

Gene Model

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

AlphaFold

Q0VBD0

Predicted Effect

probably benign
Transcript: ENSMUST00000026360
AA Change: W31R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: W31R

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	A	11: 58,316,582 (GRCm39)	D187E	probably damaging	Het
Abl2	T	C	1: 156,457,630 (GRCm39)	Y299H	probably damaging	Het
Acsl3	T	A	1: 78,659,709 (GRCm39)	N120K	probably damaging	Het
Aldh1a1	A	G	19: 20,606,434 (GRCm39)	K255R	possibly damaging	Het
Baz2b	C	T	2: 59,750,781 (GRCm39)	R1205H	probably benign	Het
Btbd8	G	T	5: 107,655,062 (GRCm39)	V954L	probably benign	Het
Btbd8	A	G	5: 107,658,371 (GRCm39)	D1647G	probably damaging	Het
Carmil1	A	G	13: 24,197,387 (GRCm39)	S1350P	probably benign	Het
Cecr2	A	T	6: 120,738,582 (GRCm39)	N325I		Het
Cep120	C	T	18: 53,873,161 (GRCm39)	A57T	probably damaging	Het
Chst8	T	C	7: 34,447,628 (GRCm39)		probably null	Het
Cntn4	A	T	6: 106,502,421 (GRCm39)	I393F	probably damaging	Het
Crocc	T	C	4: 140,749,652 (GRCm39)	D1494G	probably damaging	Het
Cwc25	T	C	11: 97,638,832 (GRCm39)	E364G	possibly damaging	Het
Dnah7a	C	A	1: 53,724,059 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,519 (GRCm39)	E5G	probably benign	Het
Ehd4	T	C	2: 119,921,729 (GRCm39)	H509R	probably damaging	Het
Enam	A	T	5: 88,650,186 (GRCm39)	N565I	probably damaging	Het
Evi2a	G	T	11: 79,418,249 (GRCm39)	N120K	probably benign	Het
Faim	A	G	9: 98,874,179 (GRCm39)	T2A	probably benign	Het
Fcgbpl1	A	G	7: 27,843,833 (GRCm39)	N907S	probably benign	Het
Fmnl1	T	C	11: 103,087,091 (GRCm39)	V836A	unknown	Het
Fosb	T	C	7: 19,039,113 (GRCm39)	I224V	possibly damaging	Het
Frem3	A	T	8: 81,338,660 (GRCm39)	T318S	probably damaging	Het
Gm9972	G	A	11: 42,927,631 (GRCm39)	G93R	unknown	Het
Gtf2a1	A	T	12: 91,534,609 (GRCm39)	I215N	possibly damaging	Het
Hs3st3b1	A	G	11: 63,812,397 (GRCm39)	V106A	probably benign	Het
Igkv19-93	T	C	6: 68,713,485 (GRCm39)	D48G	probably benign	Het
Kmt2d	A	T	15: 98,751,985 (GRCm39)	W1995R	unknown	Het
Lama3	G	T	18: 12,572,449 (GRCm39)	Q551H	probably damaging	Het
Lama5	T	C	2: 179,843,588 (GRCm39)	Y453C	probably damaging	Het
Lbhd2	G	A	12: 111,376,724 (GRCm39)	R57H	probably damaging	Het
Lcmt2	A	G	2: 120,969,271 (GRCm39)	V384A	probably damaging	Het
Lgsn	T	G	1: 31,242,452 (GRCm39)	L178R	probably damaging	Het
Lhcgr	C	T	17: 89,065,811 (GRCm39)	V193I	probably benign	Het
Lta4h	T	C	10: 93,289,373 (GRCm39)	M1T	probably null	Het
Ly6l	T	C	15: 75,321,345 (GRCm39)	S14P	probably damaging	Het
Met	C	A	6: 17,547,011 (GRCm39)	C881*	probably null	Het
Mettl21e	A	T	1: 44,249,399 (GRCm39)	Y86N	probably damaging	Het
Mgam	A	G	6: 40,740,045 (GRCm39)	T1673A	probably benign	Het
Mgam	A	T	6: 40,633,446 (GRCm39)	N251Y	possibly damaging	Het
Mmp27	T	A	9: 7,578,231 (GRCm39)	V357D	probably damaging	Het
Muc2	A	G	7: 141,306,481 (GRCm39)	E740G		Het
Myoc	C	A	1: 162,476,413 (GRCm39)	S372R	probably benign	Het
Ncor2	A	T	5: 125,097,104 (GRCm39)	M1358K		Het
Nol6	A	G	4: 41,119,468 (GRCm39)	S613P	probably benign	Het
Nuggc	T	A	14: 65,855,072 (GRCm39)	I334N	probably damaging	Het
Nxnl2	C	T	13: 51,325,542 (GRCm39)	P62S	probably damaging	Het
Ogfod1	C	T	8: 94,764,067 (GRCm39)	H51Y	possibly damaging	Het
Olfml1	T	A	7: 107,189,530 (GRCm39)	D198E	possibly damaging	Het
Or2t26	A	C	11: 49,039,945 (GRCm39)	N287T	probably damaging	Het
Ovch2	C	T	7: 107,393,577 (GRCm39)	R183H	possibly damaging	Het
Plxnd1	A	T	6: 115,937,798 (GRCm39)	L1516Q	probably damaging	Het
Pramel27	A	G	4: 143,578,451 (GRCm39)	N237S	possibly damaging	Het
Prrc2c	A	G	1: 162,507,543 (GRCm39)	V2448A	possibly damaging	Het
Rexo5	C	T	7: 119,417,636 (GRCm39)	T212I	probably damaging	Het
Rgl2	C	T	17: 34,152,403 (GRCm39)	R367W	probably damaging	Het
Rnf213	T	G	11: 119,328,818 (GRCm39)	I2030S		Het
Rtf1	C	T	2: 119,505,580 (GRCm39)	A11V	unknown	Het
Setdb1	T	G	3: 95,245,985 (GRCm39)	T647P	probably damaging	Het
Shisa6	G	C	11: 66,393,480 (GRCm39)	P272R	possibly damaging	Het
Slc25a54	G	T	3: 109,023,817 (GRCm39)	G471*	probably null	Het
Slc30a1	A	G	1: 191,641,544 (GRCm39)	T397A	probably benign	Het
Slc7a14	A	G	3: 31,281,302 (GRCm39)	F336S	possibly damaging	Het
Slitrk3	C	T	3: 72,957,798 (GRCm39)	V325I	possibly damaging	Het
Sptan1	A	G	2: 29,876,941 (GRCm39)	Y361C	probably damaging	Het
Stard9	A	G	2: 120,528,984 (GRCm39)	D1747G	probably benign	Het
Taf3	T	C	2: 9,956,253 (GRCm39)	E638G	probably damaging	Het
Tbc1d8	T	C	1: 39,411,614 (GRCm39)	D1074G	probably benign	Het
Tecrl	G	A	5: 83,502,754 (GRCm39)	H32Y	probably benign	Het
Tgm3	T	A	2: 129,866,481 (GRCm39)	M133K	probably benign	Het
Tmem131	A	G	1: 36,880,685 (GRCm39)	F195S	probably damaging	Het
Tmem82	T	C	4: 141,342,261 (GRCm39)	I314V	possibly damaging	Het
Trappc10	T	C	10: 78,043,327 (GRCm39)	E555G	probably damaging	Het
Ubn2	A	T	6: 38,429,811 (GRCm39)	K176*	probably null	Het
Ucp1	G	A	8: 84,020,531 (GRCm39)	G114R	probably benign	Het
Unc5c	A	G	3: 141,383,751 (GRCm39)	D43G	probably damaging	Het
Vmn2r3	C	T	3: 64,168,825 (GRCm39)	V571M	possibly damaging	Het
Vwa3a	A	T	7: 120,385,688 (GRCm39)	I677L	probably benign	Het
Wdr48	T	C	9: 119,740,147 (GRCm39)	S319P	probably damaging	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
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
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'- TGGAGAACTTTGTTACACACCTG -3'
(R):5'- CTGTCGAAAAGGTCCTAGGG -3'

Sequencing Primer
(F):5'- GTTACACACCTGCCCTCCTGAAG -3'
(R):5'- TCCTAGGGACTCGCAGC -3'

Posted On

2019-06-26