Incidental Mutation 'IGL02483:Itgbl1'
ID295335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgbl1
Ensembl Gene ENSMUSG00000032925
Gene Nameintegrin, beta-like 1
SynonymsB930011D01Rik, with EGF-like repeat domains
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL02483
Quality Score
Status
Chromosome14
Chromosomal Location123659971-123975618 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 123827743 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049681] [ENSMUST00000132026] [ENSMUST00000142161]
Predicted Effect probably benign
Transcript: ENSMUST00000049681
SMART Domains Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
internal_repeat_1 62 164 7.9e-12 PROSPERO
EGF_like 184 217 6.95e1 SMART
EGF 275 311 2.25e1 SMART
low complexity region 335 348 N/A INTRINSIC
Pfam:EGF_2 368 398 3.6e-8 PFAM
low complexity region 423 438 N/A INTRINSIC
low complexity region 448 456 N/A INTRINSIC
Blast:EGF_like 457 486 4e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000132026
SMART Domains Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925

DomainStartEndE-ValueType
internal_repeat_2 22 50 3.54e-8 PROSPERO
internal_repeat_1 23 87 7.45e-14 PROSPERO
low complexity region 101 126 N/A INTRINSIC
EGF 151 187 2.25e1 SMART
low complexity region 211 224 N/A INTRINSIC
Pfam:EGF_2 239 274 1.5e-7 PFAM
low complexity region 299 314 N/A INTRINSIC
low complexity region 324 332 N/A INTRINSIC
internal_repeat_2 334 362 3.54e-8 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000142161
SMART Domains Protein: ENSMUSP00000121659
Gene: ENSMUSG00000032925

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
PDB:4G1E|B 59 171 1e-17 PDB
Blast:EGF_like 90 127 5e-15 BLAST
low complexity region 178 192 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 encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 83,725,253 I512L probably damaging Het
Ahnak C A 19: 9,003,308 T652N probably benign Het
Akr1b8 G A 6: 34,363,794 A209T probably damaging Het
Arnt2 T A 7: 84,251,397 H659L probably damaging Het
Cad A G 5: 31,060,826 probably null Het
Car6 T A 4: 150,196,129 N86I probably damaging Het
Cfap57 T A 4: 118,581,105 E863V probably damaging Het
Cyp2c39 T A 19: 39,536,787 I178N probably damaging Het
Cysltr1 C A X: 106,578,122 V253L probably damaging Het
Dgcr6 G A 16: 18,065,174 A6T possibly damaging Het
Dis3l T C 9: 64,319,080 probably null Het
Erc2 T A 14: 27,653,071 L82Q probably damaging Het
Ercc6l T C X: 102,144,669 T745A probably benign Het
Fam192a A G 8: 94,588,766 probably benign Het
Fmo4 A G 1: 162,808,421 V54A possibly damaging Het
Foxd3 C T 4: 99,657,028 S135F probably damaging Het
Fut7 T A 2: 25,423,876 F21Y possibly damaging Het
Gata4 T C 14: 63,200,461 T414A probably benign Het
Gm4950 A T 18: 51,865,334 M183K probably damaging Het
Gmps A G 3: 64,014,352 D592G probably damaging Het
Hpd A T 5: 123,182,578 probably null Het
Imp4 T C 1: 34,444,275 probably null Het
Kcnt2 T C 1: 140,354,561 probably benign Het
Kdr C T 5: 75,936,294 probably null Het
Lca5 A T 9: 83,423,117 I212N probably damaging Het
Lgr6 T C 1: 135,001,691 probably benign Het
Lrrc28 T C 7: 67,617,983 probably benign Het
Madd T G 2: 91,178,036 T174P probably damaging Het
Map3k8 A G 18: 4,349,318 probably benign Het
Mcm3 A G 1: 20,803,572 S775P possibly damaging Het
Myh10 G A 11: 68,802,168 A1393T probably benign Het
Nbas C T 12: 13,324,294 A541V probably damaging Het
Nbeal2 G A 9: 110,625,995 Q2578* probably null Het
Nlrp4f T A 13: 65,194,734 T366S probably benign Het
Olfr117 A G 17: 37,659,472 L287P probably damaging Het
Olfr1216 G T 2: 89,013,203 T287N probably damaging Het
Olfr1335 C T 4: 118,809,499 V122M probably benign Het
Oma1 C T 4: 103,325,112 R271* probably null Het
Plekhh2 T C 17: 84,596,260 F1058S possibly damaging Het
Psen2 T A 1: 180,235,061 M239L probably damaging Het
Rad50 A G 11: 53,680,049 I794T probably benign Het
Rgs12 A G 5: 35,030,517 E506G probably damaging Het
Rnpepl1 C T 1: 92,915,907 P250S probably damaging Het
Sfr1 G A 19: 47,732,788 probably benign Het
Tmem184a T C 5: 139,813,077 E39G probably benign Het
Trim66 C T 7: 109,477,630 probably benign Het
Ugt2b35 A G 5: 87,001,145 Y85C possibly damaging Het
Uts2r G T 11: 121,160,387 G26C possibly damaging Het
Vmn2r88 A T 14: 51,414,154 E308D probably benign Het
Wdr61 T C 9: 54,728,261 I19V probably damaging Het
Other mutations in Itgbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Itgbl1 APN 14 123846432 splice site probably benign
IGL01290:Itgbl1 APN 14 123966725 missense probably benign 0.02
IGL01618:Itgbl1 APN 14 123827799 missense possibly damaging 0.88
IGL02024:Itgbl1 APN 14 123857492 missense probably damaging 1.00
IGL02192:Itgbl1 APN 14 123843926 missense probably damaging 1.00
IGL02215:Itgbl1 APN 14 123972141 missense probably benign 0.01
IGL02400:Itgbl1 APN 14 123846526 missense probably damaging 1.00
H8441:Itgbl1 UTSW 14 123973287 missense probably damaging 1.00
R0137:Itgbl1 UTSW 14 123840686 critical splice donor site probably null
R0193:Itgbl1 UTSW 14 123846546 missense probably benign 0.09
R0355:Itgbl1 UTSW 14 123840585 nonsense probably null
R0598:Itgbl1 UTSW 14 123857436 missense possibly damaging 0.93
R0662:Itgbl1 UTSW 14 123827894 missense probably damaging 1.00
R0689:Itgbl1 UTSW 14 123827847 missense possibly damaging 0.65
R1385:Itgbl1 UTSW 14 123661511 splice site probably null
R1957:Itgbl1 UTSW 14 123966678 missense probably damaging 1.00
R3739:Itgbl1 UTSW 14 123966678 missense probably damaging 1.00
R3842:Itgbl1 UTSW 14 123840565 missense possibly damaging 0.92
R4434:Itgbl1 UTSW 14 123972199 missense probably damaging 1.00
R4463:Itgbl1 UTSW 14 123840668 missense probably damaging 0.97
R4696:Itgbl1 UTSW 14 123966708 missense probably damaging 1.00
R4937:Itgbl1 UTSW 14 123973368 missense probably benign 0.12
R5087:Itgbl1 UTSW 14 123966739 missense possibly damaging 0.52
R5747:Itgbl1 UTSW 14 123972164 nonsense probably null
R6020:Itgbl1 UTSW 14 123846565 missense probably damaging 0.99
R6169:Itgbl1 UTSW 14 123660378 missense probably benign 0.17
R6758:Itgbl1 UTSW 14 123857489 missense probably benign 0.23
R7213:Itgbl1 UTSW 14 123973297 missense probably damaging 1.00
R7259:Itgbl1 UTSW 14 123843904 missense probably damaging 0.96
V1024:Itgbl1 UTSW 14 123973287 missense probably damaging 1.00
X0012:Itgbl1 UTSW 14 123661305 missense probably benign 0.01
X0017:Itgbl1 UTSW 14 123972211 missense possibly damaging 0.81
Posted On2015-04-16