Incidental Mutation 'IGL00335:Lrrc8b'
ID5569
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: 0.193) question?
Stock #IGL00335
Quality Score
Status
Chromosome5
Chromosomal Location105415775-105490074 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105480499 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 237 (I237T)
Ref Sequence ENSEMBL: ENSMUSP00000108327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112707]
Predicted Effect probably damaging
Transcript: ENSMUST00000112707
AA Change: I237T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: I237T

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700048O20Rik C A 9: 121,940,767 noncoding transcript Het
4930579F01Rik C A 3: 138,186,198 probably benign Het
Aurkc T A 7: 6,996,548 I18N probably damaging Het
Bace1 T C 9: 45,839,290 probably null Het
Chrne C T 11: 70,615,762 V311I probably benign Het
Cyp2c70 C T 19: 40,167,576 V177M probably damaging Het
Dusp10 A G 1: 184,069,131 E365G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgbp C A 7: 28,086,135 N332K possibly damaging Het
Irx4 T C 13: 73,268,691 V402A probably benign Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lama3 A G 18: 12,449,588 probably benign Het
Mepe G T 5: 104,337,977 G328C probably damaging Het
Numb A G 12: 83,808,132 I129T probably damaging Het
Olfr193 T C 16: 59,110,598 D4G probably benign Het
Olfr799 T C 10: 129,647,437 I103T probably benign Het
Osmr T C 15: 6,837,023 D390G probably benign Het
Pglyrp3 G A 3: 92,022,679 V51I probably damaging Het
Phactr2 T C 10: 13,245,535 T470A probably damaging Het
Psmg1 G A 16: 95,980,068 T259I possibly damaging Het
Rtl3 T C X: 106,838,937 T240A probably benign Het
Ryr1 C T 7: 29,124,960 probably null Het
Slc10a6 A G 5: 103,609,125 S258P probably benign Het
Slc1a6 T C 10: 78,801,813 L391P probably damaging Het
Slc6a7 C T 18: 61,001,609 V465M possibly damaging Het
Sost T C 11: 101,966,879 D32G probably damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Tifab A G 13: 56,176,469 S54P probably damaging Het
Tmem211 A G 5: 113,236,003 R96G probably benign Het
Tnrc6a T A 7: 123,170,780 S598T probably benign Het
Vmn2r1 T A 3: 64,105,388 I890N probably damaging Het
Wapl A G 14: 34,692,636 D485G probably benign Het
Wee2 A T 6: 40,462,061 I373F probably damaging Het
Xkr6 A G 14: 63,819,215 T192A probably damaging Het
Zfp638 A G 6: 83,979,718 D1769G probably damaging Het
Other mutations in Lrrc8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03076:Lrrc8b APN 5 105481549 missense probably damaging 1.00
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 On2012-04-20