Incidental Mutation 'IGL01620:Itgb5'
ID92514
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgb5
Ensembl Gene ENSMUSG00000022817
Gene Nameintegrin beta 5
SynonymsESTM23, [b]-5, beta-5, beta5, [b]5, [b]5A, [b]5B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01620
Quality Score
Status
Chromosome16
Chromosomal Location33829665-33949338 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 33919798 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 426 (V426E)
Ref Sequence ENSEMBL: ENSMUSP00000069416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069345] [ENSMUST00000115028] [ENSMUST00000232262]
Predicted Effect probably damaging
Transcript: ENSMUST00000069345
AA Change: V426E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: V426E

DomainStartEndE-ValueType
PSI 27 76 1.4e-7 SMART
INB 35 463 1.18e-284 SMART
VWA 137 372 5.95e-7 SMART
internal_repeat_1 492 549 3.16e-7 PROSPERO
EGF 554 586 1.95e1 SMART
Integrin_B_tail 635 719 1.56e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115028
AA Change: V426E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: V426E

DomainStartEndE-ValueType
PSI 27 76 1.4e-7 SMART
INB 35 463 1.18e-284 SMART
VWA 137 372 5.95e-7 SMART
internal_repeat_1 492 549 3.16e-7 PROSPERO
EGF 554 586 1.95e1 SMART
Integrin_B_tail 635 719 1.56e-21 SMART
Integrin_b_cyt 743 790 5.97e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151930
Predicted Effect probably damaging
Transcript: ENSMUST00000232262
AA Change: V113E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.9383 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation do not appear to differ from normal in respect to development, reproduction, adenovirus infection, or wound healing. Mutant keratinocytes do show reduced migration on, and adhesion to, vitronectin in vitro. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,339,950 V277D probably damaging Het
Akap9 T A 5: 3,960,218 V325D probably benign Het
Ambra1 A G 2: 91,911,412 probably null Het
Ano9 A G 7: 141,110,439 L94P probably damaging Het
Atad3a G T 4: 155,746,078 T521K probably damaging Het
Bckdk A G 7: 127,905,776 K126E possibly damaging Het
Bdp1 A T 13: 100,084,205 probably benign Het
Btbd17 T C 11: 114,795,773 T26A probably benign Het
Cadps2 G A 6: 23,587,462 S314L probably benign Het
Ccdc155 T C 7: 45,189,960 D359G probably damaging Het
Ccl8 A T 11: 82,116,609 Q90L probably damaging Het
Chit1 T C 1: 134,150,519 V355A probably damaging Het
Col17a1 A G 19: 47,668,539 I555T possibly damaging Het
Dmwd T A 7: 19,081,234 probably null Het
Dtna T C 18: 23,625,087 I483T probably damaging Het
Eloc T A 1: 16,643,278 probably benign Het
Emc7 T A 2: 112,464,774 L177H probably damaging Het
Emsy T A 7: 98,626,624 K352I probably damaging Het
Ermn T C 2: 58,052,490 E76G probably benign Het
Flot1 A T 17: 35,829,871 E203V possibly damaging Het
Hsd11b2 A G 8: 105,522,897 K266R probably benign Het
Iqck A T 7: 118,877,678 K154M probably damaging Het
Kif13a T C 13: 46,864,820 K53R probably benign Het
Klhl2 A T 8: 64,779,738 H168Q probably damaging Het
Lpcat2b T C 5: 107,433,893 Y363H probably damaging Het
Lrp6 A T 6: 134,511,262 N290K probably damaging Het
Map2k3 T C 11: 60,950,047 F301L possibly damaging Het
Mns1 A G 9: 72,456,913 probably benign Het
Nos1 A G 5: 117,905,309 probably null Het
Olfr346 T A 2: 36,688,538 C179S probably damaging Het
Olfr652 T A 7: 104,565,013 V264D probably damaging Het
Pask A T 1: 93,310,122 H1374Q possibly damaging Het
Pik3r1 G A 13: 101,686,220 A658V probably damaging Het
Ppp2r2a A T 14: 67,070,277 F14I probably damaging Het
Ptprc C T 1: 138,068,410 E904K possibly damaging Het
Rab11fip4 G T 11: 79,691,879 D591Y possibly damaging Het
Rab3gap2 A G 1: 185,204,326 T29A probably benign Het
Rgs19 A G 2: 181,689,588 V84A possibly damaging Het
Shisa6 T G 11: 66,217,879 M391L probably benign Het
Sipa1l1 G A 12: 82,422,489 G1254D probably damaging Het
Slfn8 A T 11: 83,004,233 Y358* probably null Het
Taf3 G T 2: 9,952,661 R232S probably benign Het
Terb2 T A 2: 122,204,857 H186Q possibly damaging Het
Trav13n-4 T C 14: 53,364,016 S81P probably damaging Het
Trim30d G T 7: 104,472,126 P321T possibly damaging Het
Tyrp1 G T 4: 80,844,802 G309* probably null Het
Vps13d C A 4: 145,094,867 G2979V possibly damaging Het
Other mutations in Itgb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Itgb5 APN 16 33884975 missense probably damaging 1.00
IGL01121:Itgb5 APN 16 33919989 missense probably benign 0.00
IGL02332:Itgb5 APN 16 33920130 nonsense probably null
IGL02869:Itgb5 APN 16 33844992 missense possibly damaging 0.94
IGL02881:Itgb5 APN 16 33919905 missense probably benign 0.00
IGL02941:Itgb5 APN 16 33944095 splice site probably benign
IGL03216:Itgb5 APN 16 33902838 missense probably benign 0.38
IGL03351:Itgb5 APN 16 33910552 missense probably benign 0.00
PIT4812001:Itgb5 UTSW 16 33919987 missense probably damaging 1.00
R0744:Itgb5 UTSW 16 33900583 missense probably damaging 0.99
R0829:Itgb5 UTSW 16 33944201 missense probably benign 0.29
R0836:Itgb5 UTSW 16 33900583 missense probably damaging 0.99
R1387:Itgb5 UTSW 16 33900515 nonsense probably null
R1703:Itgb5 UTSW 16 33910500 missense probably benign 0.01
R1783:Itgb5 UTSW 16 33940562 missense probably benign 0.13
R1826:Itgb5 UTSW 16 33865560 missense possibly damaging 0.48
R1889:Itgb5 UTSW 16 33910469 missense probably damaging 1.00
R2374:Itgb5 UTSW 16 33919798 missense probably damaging 1.00
R4307:Itgb5 UTSW 16 33948732 missense possibly damaging 0.80
R4355:Itgb5 UTSW 16 33844997 missense probably damaging 0.98
R4796:Itgb5 UTSW 16 33885021 missense possibly damaging 0.83
R4879:Itgb5 UTSW 16 33875978 missense probably damaging 1.00
R6165:Itgb5 UTSW 16 33899242 missense probably benign 0.01
R6584:Itgb5 UTSW 16 33885030 missense probably damaging 1.00
R6617:Itgb5 UTSW 16 33946592 missense probably benign 0.01
R6748:Itgb5 UTSW 16 33899297 missense probably damaging 1.00
R6979:Itgb5 UTSW 16 33919986 missense probably damaging 1.00
R7090:Itgb5 UTSW 16 33885094 missense probably damaging 1.00
R7150:Itgb5 UTSW 16 33940643 missense probably benign 0.03
R7403:Itgb5 UTSW 16 33902793 critical splice acceptor site probably null
R7418:Itgb5 UTSW 16 33885094 missense probably damaging 1.00
R7719:Itgb5 UTSW 16 33920116 missense probably benign 0.01
X0022:Itgb5 UTSW 16 33845050 missense possibly damaging 0.82
Posted On2013-12-09