Incidental Mutation 'IGL02665:Itgb8'
ID 302713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgb8
Ensembl Gene ENSMUSG00000025321
Gene Name integrin beta 8
Synonyms 4832412O06Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02665
Quality Score
Status
Chromosome 12
Chromosomal Location 119158022-119238802 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 119166865 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026360]
AlphaFold Q0VBD0
Predicted Effect probably benign
Transcript: ENSMUST00000026360
SMART Domains Protein: ENSMUSP00000026360
Gene: ENSMUSG00000025321

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
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cenpc1 T C 5: 86,046,403 N168S probably benign Het
Cep295 A G 9: 15,326,632 probably benign Het
Defb20 A G 2: 152,479,576 Y91C probably damaging Het
Dio2 T C 12: 90,729,653 D187G possibly damaging Het
Fat4 G A 3: 39,002,836 R4227Q probably benign Het
Fsip2 G A 2: 82,993,063 G6380D probably damaging Het
Gm5916 A T 9: 36,128,666 F9I possibly damaging Het
Havcr2 T A 11: 46,479,394 V216E probably benign Het
Hdac7 G A 15: 97,796,957 probably benign Het
Kyat3 A G 3: 142,734,466 probably null Het
Lcn3 G A 2: 25,766,404 A99T possibly damaging Het
Lox T A 18: 52,525,244 probably benign Het
Lrrc7 A G 3: 158,161,105 S1000P probably damaging Het
Muc5ac T C 7: 141,791,086 F98S possibly damaging Het
Nsd1 T C 13: 55,296,183 Y1835H probably damaging Het
Pnpla3 A G 15: 84,171,205 D104G probably benign Het
Rab3ip T A 10: 116,937,548 Q120L probably benign Het
Ranbp6 T A 19: 29,812,901 Q17L possibly damaging Het
Serpinb9g T C 13: 33,495,103 C319R possibly damaging Het
Ska3 T C 14: 57,822,072 K99E probably damaging Het
Srcap T A 7: 127,540,903 S1330R probably damaging Het
Vmn2r82 T A 10: 79,379,371 M396K probably damaging Het
Vmn2r87 T G 10: 130,497,180 D67A probably benign Het
Other mutations in Itgb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Itgb8 APN 12 119189826 missense probably damaging 0.99
IGL01859:Itgb8 APN 12 119189945 missense probably damaging 1.00
IGL02555:Itgb8 APN 12 119189881 missense probably damaging 1.00
IGL02732:Itgb8 APN 12 119163353 missense probably benign 0.09
R0090:Itgb8 UTSW 12 119202563 missense probably benign 0.00
R0245:Itgb8 UTSW 12 119190555 missense probably damaging 1.00
R0629:Itgb8 UTSW 12 119202481 missense probably benign 0.38
R1158:Itgb8 UTSW 12 119202496 missense probably damaging 1.00
R1355:Itgb8 UTSW 12 119171003 missense probably benign 0.03
R1370:Itgb8 UTSW 12 119171003 missense probably benign 0.03
R1604:Itgb8 UTSW 12 119202530 missense probably damaging 1.00
R1689:Itgb8 UTSW 12 119170820 missense probably benign 0.38
R1782:Itgb8 UTSW 12 119192118 missense probably damaging 0.99
R1789:Itgb8 UTSW 12 119202455 missense probably benign
R2113:Itgb8 UTSW 12 119190612 missense probably damaging 1.00
R2301:Itgb8 UTSW 12 119202455 missense probably benign
R3696:Itgb8 UTSW 12 119177011 missense probably damaging 0.99
R3797:Itgb8 UTSW 12 119163469 missense possibly damaging 0.92
R3911:Itgb8 UTSW 12 119168005 missense possibly damaging 0.65
R4904:Itgb8 UTSW 12 119170871 missense probably benign 0.00
R5391:Itgb8 UTSW 12 119170741 missense probably damaging 1.00
R5395:Itgb8 UTSW 12 119170741 missense probably damaging 1.00
R5444:Itgb8 UTSW 12 119237838 utr 5 prime probably benign
R5461:Itgb8 UTSW 12 119168005 missense probably benign 0.28
R5610:Itgb8 UTSW 12 119170694 missense probably damaging 1.00
R5669:Itgb8 UTSW 12 119190628 missense probably damaging 1.00
R5877:Itgb8 UTSW 12 119202536 missense probably benign 0.37
R6581:Itgb8 UTSW 12 119163215 missense probably benign 0.41
R6597:Itgb8 UTSW 12 119173398 missense possibly damaging 0.94
R6631:Itgb8 UTSW 12 119180977 nonsense probably null
R6971:Itgb8 UTSW 12 119190631 missense probably damaging 1.00
R7124:Itgb8 UTSW 12 119202424 nonsense probably null
R7246:Itgb8 UTSW 12 119168050 missense probably damaging 1.00
R7282:Itgb8 UTSW 12 119237708 missense probably benign 0.00
R7299:Itgb8 UTSW 12 119202461 missense probably benign 0.00
R7340:Itgb8 UTSW 12 119192204 missense probably benign 0.45
R7373:Itgb8 UTSW 12 119202475 missense probably benign 0.01
R7766:Itgb8 UTSW 12 119163359 missense probably damaging 1.00
R7855:Itgb8 UTSW 12 119166772 missense probably benign
R8195:Itgb8 UTSW 12 119168170 missense probably damaging 1.00
R8354:Itgb8 UTSW 12 119170778 missense probably benign 0.01
R8454:Itgb8 UTSW 12 119170778 missense probably benign 0.01
R9151:Itgb8 UTSW 12 119166800 missense probably benign 0.30
R9583:Itgb8 UTSW 12 119189973 missense possibly damaging 0.91
R9588:Itgb8 UTSW 12 119177019 missense probably benign 0.02
Posted On 2015-04-16