Incidental Mutation 'R0629:Itgb8'
ID 57777
Institutional Source Beutler Lab
Gene Symbol Itgb8
Ensembl Gene ENSMUSG00000025321
Gene Name integrin beta 8
Synonyms 4832412O06Rik
MMRRC Submission 038818-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0629 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 119121757-119202537 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 119166216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 105 (H105P)
Ref Sequence ENSEMBL: ENSMUSP00000026360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026360]
AlphaFold Q0VBD0
Predicted Effect probably benign
Transcript: ENSMUST00000026360
AA Change: H105P

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321
AA Change: H105P

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: ENSMUST00000137804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151023
Meta Mutation Damage Score 0.1224 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 100% (66/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,818,473 (GRCm39) D86V probably damaging Het
Adamts14 G A 10: 61,047,403 (GRCm39) Q733* probably null Het
Adcy10 A G 1: 165,370,674 (GRCm39) D651G probably damaging Het
Apcdd1 T A 18: 63,067,041 (GRCm39) C52S probably damaging Het
Bclaf1 T C 10: 20,209,172 (GRCm39) S463P probably damaging Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Cacna1f G A X: 7,486,673 (GRCm39) S888N probably damaging Het
Cacna1g A G 11: 94,300,369 (GRCm39) C2134R possibly damaging Het
Cdc37 A C 9: 21,052,064 (GRCm39) M325R possibly damaging Het
Clca3a2 T A 3: 144,778,000 (GRCm39) M762L probably benign Het
Cntn3 C T 6: 102,180,937 (GRCm39) V753M probably damaging Het
Col6a6 A T 9: 105,604,364 (GRCm39) probably benign Het
Dscaml1 A G 9: 45,632,716 (GRCm39) D1194G probably damaging Het
Egfr G A 11: 16,819,333 (GRCm39) G288S probably damaging Het
Fbxl17 G T 17: 63,778,409 (GRCm39) N19K probably damaging Het
Fmo3 A G 1: 162,785,796 (GRCm39) probably benign Het
Frmd6 T C 12: 70,930,536 (GRCm39) Y219H probably damaging Het
Fuca1 T C 4: 135,652,955 (GRCm39) V193A possibly damaging Het
Gm7461 C T 8: 4,727,769 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,789,651 (GRCm39) N508K possibly damaging Het
Iqch A T 9: 63,332,664 (GRCm39) D1019E probably benign Het
Isyna1 A G 8: 71,047,358 (GRCm39) Y27C probably damaging Het
Kbtbd11 C T 8: 15,077,572 (GRCm39) P57L probably benign Het
Kcns3 A C 12: 11,142,559 (GRCm39) C47G probably damaging Het
Kif21b A T 1: 136,099,895 (GRCm39) probably null Het
Lama3 A T 18: 12,552,302 (GRCm39) H418L possibly damaging Het
Lrit3 A G 3: 129,581,951 (GRCm39) Y679H probably damaging Het
Lrrc19 T A 4: 94,526,489 (GRCm39) D356V probably damaging Het
Morc2b A G 17: 33,354,781 (GRCm39) M997T probably benign Het
Mroh9 T C 1: 162,888,205 (GRCm39) H290R possibly damaging Het
Mtcl1 A T 17: 66,645,137 (GRCm39) S1886T possibly damaging Het
Muc20 T C 16: 32,613,791 (GRCm39) T529A possibly damaging Het
Myo7a A C 7: 97,734,673 (GRCm39) L607R probably damaging Het
Myom2 T A 8: 15,119,783 (GRCm39) F180I probably damaging Het
Myt1l G A 12: 29,861,484 (GRCm39) E89K unknown Het
Nek2 A G 1: 191,563,429 (GRCm39) N431S probably benign Het
Oprm1 A T 10: 6,782,604 (GRCm39) probably null Het
Or2aj4 A T 16: 19,384,730 (GRCm39) V301E possibly damaging Het
Or5t7 T A 2: 86,506,873 (GRCm39) H268L possibly damaging Het
Oxsr1 A G 9: 119,070,850 (GRCm39) probably benign Het
Pasd1 G C X: 70,982,379 (GRCm39) R296P possibly damaging Het
Pdgfrb G A 18: 61,211,720 (GRCm39) probably null Het
Proser1 C A 3: 53,386,485 (GRCm39) P789Q probably benign Het
Ptgs2 A G 1: 149,976,788 (GRCm39) Q7R probably benign Het
Rab3d A G 9: 21,825,982 (GRCm39) V144A probably benign Het
Ralgapb T A 2: 158,281,467 (GRCm39) L167H probably damaging Het
Ranbp3 A G 17: 57,015,200 (GRCm39) T301A possibly damaging Het
Rasgrf1 G A 9: 89,866,322 (GRCm39) V587M probably damaging Het
Sec16b A G 1: 157,392,433 (GRCm39) probably benign Het
Sin3b T C 8: 73,480,164 (GRCm39) probably benign Het
Slc10a2 T C 8: 5,148,562 (GRCm39) S128G probably benign Het
Tbl1xr1 G A 3: 22,264,565 (GRCm39) V507I probably benign Het
Tmem8b T G 4: 43,669,896 (GRCm39) probably null Het
Trak1 A T 9: 121,196,233 (GRCm39) T22S probably benign Het
Trim30d A G 7: 104,136,862 (GRCm39) I114T probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Ttn T C 2: 76,658,474 (GRCm39) probably benign Het
Vipr1 T A 9: 121,489,237 (GRCm39) Y99* probably null Het
Vmn1r210 T C 13: 23,012,044 (GRCm39) K81E probably damaging Het
Wwc1 T C 11: 35,744,299 (GRCm39) Y841C probably benign Het
Xrcc4 A G 13: 90,149,024 (GRCm39) probably benign Het
Zdhhc22 A T 12: 87,035,071 (GRCm39) I127N probably damaging Het
Zdhhc7 A G 8: 120,814,785 (GRCm39) L8P possibly damaging Het
Zfp664 C A 5: 124,962,659 (GRCm39) L18I 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
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
Predicted Primers PCR Primer
(F):5'- GTAGACTTCAGCTACTCTGCTGTTTGG -3'
(R):5'- GGGTTTCTTGAAACATACGGCACAC -3'

Sequencing Primer
(F):5'- TGGTTGTATCATATTAACTGTGAGC -3'
(R):5'- TCAGGTGGATCAGGAAGTGA -3'
Posted On 2013-07-11