Mutagenetix > Incidental Mutation

Incidental Mutation 'R7299:Itgb8'

566884

Institutional Source

Beutler Lab

Gene Symbol

Itgb8

Ensembl Gene

ENSMUSG00000025321

Gene Name

integrin beta 8

Synonyms

4832412O06Rik

MMRRC Submission

045403-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119121757-119202537 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119166196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 112 (N112D)

Ref Sequence

ENSEMBL: ENSMUSP00000026360 (fasta)

Gene Model

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

AlphaFold

Q0VBD0

Predicted Effect

probably benign
Transcript: ENSMUST00000026360
AA Change: N112D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: N112D

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: 99.5%
20x: 98.2%

Validation Efficiency

99% (71/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Abca13	A	T	11: 9,244,649 (GRCm39)	N2171Y	probably damaging	Het
Abcc8	G	A	7: 45,754,922 (GRCm39)	T1532I	possibly damaging	Het
Abtb2	A	T	2: 103,532,769 (GRCm39)		probably null	Het
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Akap9	C	A	5: 4,082,696 (GRCm39)	T1940K	probably damaging	Het
Ccdc8	A	G	7: 16,729,956 (GRCm39)	T482A	unknown	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cenpt	G	A	8: 106,576,536 (GRCm39)	Q45*	probably null	Het
Cnga1	T	C	5: 72,762,775 (GRCm39)	I246M	probably benign	Het
Cnot7	A	G	8: 40,960,586 (GRCm39)	I74T	probably damaging	Het
Cog6	T	C	3: 52,909,928 (GRCm39)	S275G	probably benign	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Ergic2	T	A	6: 148,089,610 (GRCm39)	Y249F	probably damaging	Het
Exoc1	T	A	5: 76,690,006 (GRCm39)	M182K	probably damaging	Het
Fhdc1	T	C	3: 84,351,847 (GRCm39)	E1126G	probably damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gap43	T	C	16: 42,112,615 (GRCm39)	K49E	probably damaging	Het
Gata4	T	A	14: 63,441,191 (GRCm39)	T276S	probably damaging	Het
Gca	C	T	2: 62,520,320 (GRCm39)	P160L	probably benign	Het
Ghdc	C	T	11: 100,658,942 (GRCm39)	V397I	possibly damaging	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gtf3c3	G	A	1: 54,456,867 (GRCm39)	P511L	probably benign	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Krtap26-1	T	C	16: 88,444,132 (GRCm39)	Y163C	possibly damaging	Het
Kyat1	T	C	2: 30,082,007 (GRCm39)	D44G	probably benign	Het
Mob1a	G	A	6: 83,315,431 (GRCm39)		probably null	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Nhsl1	A	G	10: 18,403,419 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Odad2	T	C	18: 7,222,635 (GRCm39)	K545E	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or1s2	G	A	19: 13,758,688 (GRCm39)	W235*	probably null	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Ptpro	G	A	6: 137,418,142 (GRCm39)		probably null	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Ralgps1	T	C	2: 33,047,885 (GRCm39)	K365R	probably benign	Het
Reep1	A	T	6: 71,738,373 (GRCm39)	I44L	probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Shisa5	G	T	9: 108,883,952 (GRCm39)		probably benign	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmem263	T	A	10: 84,950,261 (GRCm39)		probably null	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Tnrc6a	A	C	7: 122,770,136 (GRCm39)	N642T	probably benign	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Trak1	A	G	9: 121,280,929 (GRCm39)		probably null	Het
Trpc4	T	C	3: 54,225,048 (GRCm39)	I799T	possibly damaging	Het
Ttc7	T	C	17: 87,653,970 (GRCm39)	I549T	possibly damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Wrn	A	G	8: 33,782,746 (GRCm39)	F728S	probably damaging	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfp418	T	A	7: 7,185,827 (GRCm39)	C597S	possibly damaging	Het
Zfp568	A	G	7: 29,716,669 (GRCm39)	T190A	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	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
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
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'- TTAGCTACAAACATGACAGGGAC -3'
(R):5'- GTAAGGTTTCTTAAGTTGTCACAGAGG -3'

Sequencing Primer
(F):5'- GACAAGATCTGAGCTCAGTAGACTTC -3'
(R):5'- TTCAGGTGGATCAGGAAG -3'

Posted On

2019-06-26