Incidental Mutation 'IGL02555:Itgb8'
ID 298479
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 # IGL02555
Quality Score
Status
Chromosome 12
Chromosomal Location 119121757-119202537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119153616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 300 (V300M)
Ref Sequence ENSEMBL: ENSMUSP00000026360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026360]
AlphaFold Q0VBD0
Predicted Effect probably damaging
Transcript: ENSMUST00000026360
AA Change: V300M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: V300M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151023
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b G A 1: 36,740,828 (GRCm39) R199C probably damaging Het
Adam34l A T 8: 44,078,305 (GRCm39) C640S probably damaging Het
Adam9 T C 8: 25,456,752 (GRCm39) N661D probably damaging Het
Amy1 C T 3: 113,358,541 (GRCm39) E164K probably benign Het
Arid5b A C 10: 67,937,734 (GRCm39) D221E probably benign Het
B3galt1 G T 2: 67,948,905 (GRCm39) V207F probably benign Het
Begain A G 12: 109,000,115 (GRCm39) S219P probably damaging Het
Clip1 A G 5: 123,759,857 (GRCm39) probably null Het
Cps1 A G 1: 67,253,180 (GRCm39) K1224R probably benign Het
Dnm1 A G 2: 32,218,050 (GRCm39) Y449H probably damaging Het
Epas1 A T 17: 87,136,492 (GRCm39) M755L probably benign Het
F13b T C 1: 139,444,924 (GRCm39) C525R probably damaging Het
Fmnl2 A G 2: 53,016,863 (GRCm39) probably null Het
Ighv5-15 A G 12: 113,790,735 (GRCm39) F3L probably benign Het
Inpp4a A G 1: 37,419,049 (GRCm39) Q538R possibly damaging Het
Insrr A T 3: 87,721,124 (GRCm39) M1092L probably damaging Het
Kcnk5 A T 14: 20,192,053 (GRCm39) H369Q probably benign Het
Ly6m G T 15: 74,753,457 (GRCm39) probably benign Het
Or1m1 T A 9: 18,666,769 (GRCm39) H54L probably benign Het
Or4a76 G A 2: 89,460,547 (GRCm39) R232C probably damaging Het
Or4k44 A G 2: 111,368,262 (GRCm39) V124A probably damaging Het
Or5m10 G A 2: 85,717,742 (GRCm39) M199I probably benign Het
Plxdc2 A G 2: 16,734,152 (GRCm39) I417M probably benign Het
Polr1a G A 6: 71,897,441 (GRCm39) E186K probably damaging Het
Ppp3cb A T 14: 20,581,021 (GRCm39) F134L probably damaging Het
Prox2 C T 12: 85,142,034 (GRCm39) W56* probably null Het
Scaf4 C T 16: 90,047,193 (GRCm39) A395T unknown Het
Sh3tc2 G T 18: 62,123,308 (GRCm39) A690S probably damaging Het
Slc34a1 T C 13: 55,548,981 (GRCm39) S144P possibly damaging Het
Slc6a6 C T 6: 91,725,311 (GRCm39) probably benign Het
Tubgcp3 A T 8: 12,689,595 (GRCm39) M557K probably benign Het
Vmn2r103 A T 17: 20,031,873 (GRCm39) D549V probably damaging Het
Washc2 T A 6: 116,186,061 (GRCm39) N90K 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
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
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