Incidental Mutation 'R5395:Itgb8'
ID 426148
Institutional Source Beutler Lab
Gene Symbol Itgb8
Ensembl Gene ENSMUSG00000025321
Gene Name integrin beta 8
Synonyms 4832412O06Rik
MMRRC Submission 042967-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5395 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 119121757-119202537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 119134476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 530 (C530W)
Ref Sequence ENSEMBL: ENSMUSP00000026360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026360]
AlphaFold Q0VBD0
Predicted Effect probably damaging
Transcript: ENSMUST00000026360
AA Change: C530W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: C530W

DomainStartEndE-ValueType
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,874,590 (GRCm39) I268V probably benign Het
Actn1 T A 12: 80,217,477 (GRCm39) I782F probably benign Het
Adamdec1 A C 14: 68,808,352 (GRCm39) S333A probably benign Het
Agbl5 C A 5: 31,047,682 (GRCm39) T58N probably damaging Het
Apoo-ps T A 13: 107,550,993 (GRCm39) noncoding transcript Het
Arhgef10l T C 4: 140,297,601 (GRCm39) N277S probably benign Het
Ascc2 A G 11: 4,609,273 (GRCm39) E241G possibly damaging Het
Atp13a4 A T 16: 29,239,706 (GRCm39) Y835* probably null Het
Atp13a4 A G 16: 29,275,422 (GRCm39) V354A possibly damaging Het
Bcas3 T C 11: 85,716,075 (GRCm39) S426P probably damaging Het
Birc2 T C 9: 7,861,175 (GRCm39) R48G probably damaging Het
Cacna2d4 T C 6: 119,248,379 (GRCm39) S397P possibly damaging Het
Ccng2 T C 5: 93,417,257 (GRCm39) M91T possibly damaging Het
Clk3 G A 9: 57,660,622 (GRCm39) T473M probably damaging Het
Cog2 T A 8: 125,271,960 (GRCm39) H491Q probably benign Het
Cyp4f40 C T 17: 32,888,827 (GRCm39) T202I probably benign Het
Dennd1a A T 2: 37,692,140 (GRCm39) F181I probably damaging Het
Fcrl6 G T 1: 172,426,287 (GRCm39) A170D possibly damaging Het
Fev T C 1: 74,921,823 (GRCm39) probably null Het
Flnb A G 14: 7,883,881 (GRCm38) N369S probably benign Het
Flt3 A G 5: 147,291,633 (GRCm39) F606L probably damaging Het
Gdf9 T C 11: 53,324,624 (GRCm39) V131A probably benign Het
Gdnf T A 15: 7,864,165 (GRCm39) L192Q probably damaging Het
Gjc2 A T 11: 59,068,315 (GRCm39) C56S possibly damaging Het
Gli3 T C 13: 15,889,535 (GRCm39) F550L probably damaging Het
Gm1110 T C 9: 26,800,928 (GRCm39) E422G probably benign Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gnb2 A G 5: 137,526,788 (GRCm39) S334P probably damaging Het
Icam2 A T 11: 106,273,299 (GRCm39) probably null Het
Inca1 C T 11: 70,581,264 (GRCm39) probably null Het
Lrp1 T C 10: 127,431,166 (GRCm39) D332G probably damaging Het
Ly75 A T 2: 60,195,455 (GRCm39) N234K probably benign Het
Mcm5 G A 8: 75,849,654 (GRCm39) S542N probably benign Het
Mcm9 A T 10: 53,414,788 (GRCm39) N97K possibly damaging Het
Morc2a G A 11: 3,638,232 (GRCm39) R986H possibly damaging Het
Neu2 T A 1: 87,524,397 (GRCm39) probably null Het
Nfatc1 G A 18: 80,679,235 (GRCm39) P718S possibly damaging Het
Nol6 G A 4: 41,118,392 (GRCm39) probably benign Het
Or10j7 A T 1: 173,011,247 (GRCm39) Y251* probably null Het
Otogl T C 10: 107,652,999 (GRCm39) N1118D probably benign Het
Pcdh15 T A 10: 74,021,119 (GRCm39) I111K probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Piwil2 G T 14: 70,632,846 (GRCm39) N575K probably benign Het
Pou4f2 T A 8: 79,161,701 (GRCm39) I301F probably damaging Het
Prkd1 T C 12: 50,438,215 (GRCm39) N409S probably damaging Het
Ptpn21 T G 12: 98,681,376 (GRCm39) K86T probably damaging Het
Raly T A 2: 154,705,927 (GRCm39) probably null Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sdr16c5 T C 4: 4,016,277 (GRCm39) S50G probably benign Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Six6 T A 12: 72,988,475 (GRCm39) L216* probably null Het
Slc20a1 A T 2: 129,050,257 (GRCm39) N472Y probably damaging Het
Slc35d1 C T 4: 103,068,572 (GRCm39) probably null Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slc7a8 C A 14: 54,970,734 (GRCm39) G306* probably null Het
Slc9a8 T A 2: 167,309,642 (GRCm39) F335L probably damaging Het
Smyd1 T G 6: 71,196,374 (GRCm39) K338T possibly damaging Het
Snd1 T A 6: 28,526,183 (GRCm39) V187E probably damaging Het
Spag9 T G 11: 93,982,577 (GRCm39) probably null Het
Tnfsf9 C A 17: 57,412,592 (GRCm39) T54K probably benign Het
Trim24 T G 6: 37,934,679 (GRCm39) V798G probably damaging Het
Tyr C A 7: 87,121,698 (GRCm39) A365S probably damaging Het
Usp43 T A 11: 67,788,184 (GRCm39) probably null Het
Vmn2r55 T C 7: 12,385,874 (GRCm39) D702G probably damaging Het
Vmn2r72 A G 7: 85,400,105 (GRCm39) S315P possibly damaging Het
Wdr64 T A 1: 175,583,164 (GRCm39) F367I probably damaging Het
Zc3h7b G A 15: 81,656,702 (GRCm39) R173K possibly damaging Het
Zfp493 T A 13: 67,931,965 (GRCm39) C21* probably null Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zpbp2 T A 11: 98,449,039 (GRCm39) V275D probably damaging Het
Other mutations in Itgb8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTGGGTTAAGTGGCAGTACCTC -3'
(R):5'- CATACACAGAAGCTGCAGTTG -3'

Sequencing Primer
(F):5'- GGTTAAGTGGCAGTACCTCATCAC -3'
(R):5'- TTGCCAGTGTGAGAACCAC -3'
Posted On 2016-08-04