Incidental Mutation 'IGL03076:Lrrc8b'
ID417696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc8b
Ensembl Gene ENSMUSG00000070639
Gene Nameleucine rich repeat containing 8 family, member B
SynonymsR75581
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL03076
Quality Score
Status
Chromosome5
Chromosomal Location105415775-105490074 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 105481549 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 587 (L587Q)
Ref Sequence ENSEMBL: ENSMUSP00000108327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112707]
Predicted Effect probably damaging
Transcript: ENSMUST00000112707
AA Change: L587Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: L587Q

DomainStartEndE-ValueType
Pfam:Pannexin_like 1 334 2.9e-133 PFAM
LRR 509 536 5.27e1 SMART
LRR 584 607 2.03e1 SMART
LRR 632 654 1.97e1 SMART
LRR_TYP 655 678 4.79e-3 SMART
LRR 679 700 3.09e1 SMART
LRR_TYP 701 724 4.17e-3 SMART
LRR 747 770 2.17e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy2 T C 12: 36,165,918 V39A probably damaging Het
Bcl2 A G 1: 106,543,307 V223A probably benign Het
Bsn T A 9: 108,105,382 Y3724F unknown Het
Chd8 T C 14: 52,226,162 probably benign Het
Cyp2a5 T C 7: 26,835,874 V87A probably damaging Het
Dnah10 T C 5: 124,730,162 probably null Het
Dync1h1 C T 12: 110,657,893 R3652W probably damaging Het
Epha5 T A 5: 84,331,690 T152S probably damaging Het
Flnb T G 14: 7,901,988 N950K probably benign Het
Fmn1 A G 2: 113,584,092 D1128G probably damaging Het
Fndc3a T A 14: 72,556,468 T922S possibly damaging Het
Fsip2 A T 2: 82,982,138 N2934Y possibly damaging Het
Gm5415 A G 1: 32,545,545 I428T probably damaging Het
Gnptab T C 10: 88,440,289 V1146A possibly damaging Het
Gsg1l A G 7: 125,923,493 F188L probably benign Het
Kmt2c C A 5: 25,299,151 E309* probably null Het
Krt71 C T 15: 101,734,597 R492H probably benign Het
Lama1 T A 17: 67,716,799 V63E possibly damaging Het
Lrch3 T C 16: 32,981,853 V58A possibly damaging Het
Lrrtm1 T C 6: 77,244,585 C342R probably damaging Het
Mdm1 T C 10: 118,159,683 S541P possibly damaging Het
Mdn1 T A 4: 32,735,564 V3410D probably damaging Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Olfr551 A T 7: 102,588,472 N90K probably benign Het
Olfr869 T C 9: 20,137,727 S204P probably benign Het
Pigt A G 2: 164,497,665 E36G probably damaging Het
Plxnb1 T A 9: 109,106,902 V1120D probably damaging Het
Rapgef6 T C 11: 54,625,967 L350P probably damaging Het
Rasgef1c C A 11: 49,970,246 T302K probably damaging Het
Riox2 C A 16: 59,491,212 A386D possibly damaging Het
Slc12a2 T C 18: 57,926,397 probably benign Het
Trim24 T A 6: 37,965,632 S992R probably damaging Het
Trpc3 T C 3: 36,640,655 N717D probably damaging Het
Vwa5b1 T C 4: 138,600,188 D359G probably damaging Het
Wapl A G 14: 34,692,089 T303A probably benign Het
Zfp128 A G 7: 12,884,709 T45A possibly damaging Het
Zfp280d T C 9: 72,312,662 S240P probably damaging Het
Other mutations in Lrrc8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Lrrc8b APN 5 105480499 missense probably damaging 0.96
IGL00519:Lrrc8b APN 5 105481725 missense possibly damaging 0.82
IGL01732:Lrrc8b APN 5 105485960 missense probably damaging 1.00
IGL01799:Lrrc8b APN 5 105485891 missense probably benign
IGL02005:Lrrc8b APN 5 105481054 missense probably benign 0.22
IGL02205:Lrrc8b APN 5 105481837 missense probably benign 0.07
IGL03038:Lrrc8b APN 5 105481492 missense probably damaging 0.98
IGL02796:Lrrc8b UTSW 5 105481345 missense probably damaging 1.00
R0647:Lrrc8b UTSW 5 105480607 missense possibly damaging 0.69
R0722:Lrrc8b UTSW 5 105480112 missense possibly damaging 0.89
R1382:Lrrc8b UTSW 5 105480883 missense probably damaging 1.00
R1437:Lrrc8b UTSW 5 105481702 missense probably damaging 1.00
R1801:Lrrc8b UTSW 5 105480823 missense probably damaging 1.00
R1888:Lrrc8b UTSW 5 105481351 missense probably benign 0.12
R1888:Lrrc8b UTSW 5 105481351 missense probably benign 0.12
R2169:Lrrc8b UTSW 5 105481887 missense probably damaging 0.99
R4514:Lrrc8b UTSW 5 105479953 missense probably damaging 1.00
R4898:Lrrc8b UTSW 5 105480214 missense probably benign 0.19
R5243:Lrrc8b UTSW 5 105480946 missense probably damaging 1.00
R5264:Lrrc8b UTSW 5 105480252 missense probably damaging 0.98
R5424:Lrrc8b UTSW 5 105480703 missense probably damaging 1.00
R5513:Lrrc8b UTSW 5 105485984 missense probably damaging 1.00
R5632:Lrrc8b UTSW 5 105480297 missense possibly damaging 0.81
R5799:Lrrc8b UTSW 5 105481342 missense probably benign 0.19
R5800:Lrrc8b UTSW 5 105481342 missense probably benign 0.19
R6637:Lrrc8b UTSW 5 105480271 missense possibly damaging 0.80
R7249:Lrrc8b UTSW 5 105481267 missense probably benign 0.23
R7253:Lrrc8b UTSW 5 105481656 missense probably benign 0.01
R7558:Lrrc8b UTSW 5 105481711 missense probably damaging 1.00
R8077:Lrrc8b UTSW 5 105480017 missense possibly damaging 0.48
Posted On2016-08-02