Incidental Mutation 'R9588:Itgb8'
ID 722903
Institutional Source Beutler Lab
Gene Symbol Itgb8
Ensembl Gene ENSMUSG00000025321
Gene Name integrin beta 8
Synonyms 4832412O06Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9588 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 119121757-119202537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 119140754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 374 (N374K)
Ref Sequence ENSEMBL: ENSMUSP00000026360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026360]
AlphaFold Q0VBD0
Predicted Effect probably benign
Transcript: ENSMUST00000026360
AA Change: N374K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: N374K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr5 T C 2: 158,468,328 (GRCm39) F153L possibly damaging Het
Ano3 T C 2: 110,528,342 (GRCm39) K491E possibly damaging Het
Arhgap21 C A 2: 20,858,938 (GRCm39) C1252F possibly damaging Het
Bcat1 T C 6: 144,950,126 (GRCm39) N424S probably benign Het
Ccdc61 A G 7: 18,644,266 (GRCm39) probably benign Het
Cecr2 T C 6: 120,733,770 (GRCm39) S586P possibly damaging Het
Chd3 A G 11: 69,241,046 (GRCm39) C1516R probably damaging Het
Cops5 C A 1: 10,108,222 (GRCm39) R5L unknown Het
Cpne2 C A 8: 95,286,781 (GRCm39) P369Q possibly damaging Het
Cyp3a25 G T 5: 145,921,699 (GRCm39) Q412K probably benign Het
Dbn1 A G 13: 55,622,785 (GRCm39) V612A probably benign Het
Dnah17 T C 11: 118,012,783 (GRCm39) D426G probably benign Het
Dolpp1 T A 2: 30,282,515 (GRCm39) Y23N probably damaging Het
Egf T C 3: 129,511,617 (GRCm39) M517V probably benign Het
Fbxw27 ATGT AT 9: 109,602,322 (GRCm39) probably null Het
Foxc1 A T 13: 31,992,587 (GRCm39) H466L unknown Het
Hsf2bp A G 17: 32,241,810 (GRCm39) L78P probably damaging Het
Ikbkb G A 8: 23,151,410 (GRCm39) A738V unknown Het
Kif16b T A 2: 142,553,804 (GRCm39) Q998L possibly damaging Het
Krtap11-1 A C 16: 89,368,062 (GRCm39) probably benign Het
Lamp3 T A 16: 19,494,832 (GRCm39) probably null Het
Lrrc43 A T 5: 123,641,307 (GRCm39) H497L probably damaging Het
Mmp1a C T 9: 7,467,225 (GRCm39) T267I probably benign Het
Mroh2b T A 15: 4,978,130 (GRCm39) D1299E probably benign Het
Ndst4 A C 3: 125,476,808 (GRCm39) H11P probably damaging Het
Oas1c A G 5: 120,946,202 (GRCm39) F99L probably benign Het
Or10s1 T C 9: 39,986,353 (GRCm39) L254P probably damaging Het
Or14c39 T A 7: 86,343,948 (GRCm39) C95S probably damaging Het
Or1j11 G T 2: 36,311,784 (GRCm39) A125S probably damaging Het
Or5w15 G A 2: 87,568,644 (GRCm39) T8I probably benign Het
Pcdhga3 A G 18: 37,808,564 (GRCm39) D339G probably damaging Het
Pcsk1 A T 13: 75,259,039 (GRCm39) N271I probably damaging Het
Pdilt A T 7: 119,100,870 (GRCm39) D160E probably benign Het
Psma4 A T 9: 54,862,245 (GRCm39) Q123L probably damaging Het
Selenbp2 A T 3: 94,605,368 (GRCm39) I127F possibly damaging Het
Setd5 A G 6: 113,121,025 (GRCm39) N1078S probably damaging Het
Sorl1 A C 9: 41,993,105 (GRCm39) Y306* probably null Het
Spata17 T C 1: 186,849,471 (GRCm39) K255E possibly damaging Het
Surf4 C A 2: 26,823,622 (GRCm39) probably benign Het
Tbc1d16 G T 11: 119,101,335 (GRCm39) H58Q probably damaging Het
Tfdp2 A G 9: 96,169,663 (GRCm39) T5A probably damaging Het
Thsd7b T G 1: 130,108,223 (GRCm39) C1313G probably damaging Het
Trmt44 A T 5: 35,727,256 (GRCm39) C320S probably damaging Het
Unc119b G A 5: 115,272,827 (GRCm39) T48M probably benign Het
Vit T A 17: 78,930,079 (GRCm39) I348N probably damaging Het
Vmn1r184 T A 7: 25,966,347 (GRCm39) M31K probably null Het
Vmn2r81 A G 10: 79,129,205 (GRCm39) T699A possibly damaging Het
Xrn1 A G 9: 95,920,756 (GRCm39) T1339A probably benign Het
Zfp827 T A 8: 79,905,604 (GRCm39) H860Q 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
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
Predicted Primers PCR Primer
(F):5'- ATTGCTAGTCTGTGGTCCATCC -3'
(R):5'- AACACTGATACTTCTCTTAGCTTGC -3'

Sequencing Primer
(F):5'- CAGCAGTGCTGCTTTGTA -3'
(R):5'- GTCATATCATGCACCCGA -3'
Posted On 2022-08-09