Incidental Mutation 'IGL01732:Lrrc8b'
ID 105523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrrc8b
Ensembl Gene ENSMUSG00000070639
Gene Name leucine rich repeat containing 8 family, member B
Synonyms R75581, 2210408K08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # IGL01732
Quality Score
Status
Chromosome 5
Chromosomal Location 105563641-105637940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105633826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 766 (E766V)
Ref Sequence ENSEMBL: ENSMUSP00000108327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112707]
AlphaFold Q5DU41
Predicted Effect probably damaging
Transcript: ENSMUST00000112707
AA Change: E766V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108327
Gene: ENSMUSG00000070639
AA Change: E766V

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh4a1 G T 4: 139,369,471 (GRCm39) E341* probably null Het
Alpk3 A G 7: 80,707,390 (GRCm39) R5G unknown Het
Arhgef10l C T 4: 140,307,726 (GRCm39) V113M probably damaging Het
Brca2 T A 5: 150,465,852 (GRCm39) I1872K probably benign Het
Cdk17 C A 10: 93,053,907 (GRCm39) P134T probably benign Het
Cerk A G 15: 86,030,517 (GRCm39) S35P possibly damaging Het
Cfap126 T C 1: 170,954,305 (GRCm39) V174A possibly damaging Het
Cfhr1 T C 1: 139,478,606 (GRCm39) T255A probably benign Het
Clcn1 A G 6: 42,287,606 (GRCm39) probably benign Het
Copz1 A G 15: 103,206,318 (GRCm39) E151G probably benign Het
Cubn G A 2: 13,494,747 (GRCm39) Q101* probably null Het
Eri1 T C 8: 35,958,397 (GRCm39) E12G possibly damaging Het
Fut9 A G 4: 25,619,867 (GRCm39) F316L possibly damaging Het
Garin1a A T 6: 29,285,979 (GRCm39) H146L probably damaging Het
Gm973 A G 1: 59,669,396 (GRCm39) I816V probably benign Het
Itln1 A G 1: 171,362,348 (GRCm39) M11T probably benign Het
Klc2 C T 19: 5,159,825 (GRCm39) R458Q probably damaging Het
Mmadhc A T 2: 50,171,197 (GRCm39) I205N probably damaging Het
Myo10 A G 15: 25,732,149 (GRCm39) I342V probably benign Het
Ncapg T A 5: 45,851,195 (GRCm39) V796D probably damaging Het
Olfm3 A C 3: 114,890,649 (GRCm39) D134A possibly damaging Het
Or3a1c T C 11: 74,046,279 (GRCm39) C100R probably damaging Het
Or51t4 T A 7: 102,598,446 (GRCm39) I248N probably damaging Het
Or56b2 T C 7: 104,337,543 (GRCm39) M107T possibly damaging Het
Phldb3 A G 7: 24,326,751 (GRCm39) E593G probably damaging Het
Plcg1 T A 2: 160,589,699 (GRCm39) D74E probably damaging Het
Plekhm3 T C 1: 64,961,407 (GRCm39) D283G probably benign Het
Pnpla6 C A 8: 3,572,616 (GRCm39) T279N probably damaging Het
Prkcq G A 2: 11,265,644 (GRCm39) probably benign Het
Rbm11 G A 16: 75,397,510 (GRCm39) A147T probably benign Het
Rnf103 A G 6: 71,487,366 (GRCm39) K666E probably damaging Het
Selenos A G 7: 65,730,137 (GRCm39) Y45C probably damaging Het
Septin11 A G 5: 93,309,085 (GRCm39) Y255C probably damaging Het
Serpinb3c T C 1: 107,199,702 (GRCm39) H273R probably benign Het
Slc35f2 A G 9: 53,713,909 (GRCm39) D141G probably damaging Het
Sntg2 A T 12: 30,362,648 (GRCm39) Y33N probably damaging Het
Snx19 C A 9: 30,373,649 (GRCm39) T904K probably damaging Het
Tenm4 A G 7: 96,544,716 (GRCm39) Y2244C probably damaging Het
Tescl A G 7: 24,032,872 (GRCm39) V151A probably damaging Het
Tnrc18 C T 5: 142,757,816 (GRCm39) V902M unknown Het
Trmt13 A G 3: 116,375,113 (GRCm39) L465S probably damaging Het
Ube2j2 T G 4: 156,041,788 (GRCm39) V249G probably damaging Het
Zan T C 5: 137,391,273 (GRCm39) K4737R unknown Het
Zc3h6 T C 2: 128,853,795 (GRCm39) I430T probably damaging Het
Zfp750 G A 11: 121,403,819 (GRCm39) S352L probably benign Het
Zfp819 A G 7: 43,265,846 (GRCm39) K34E probably benign Het
Other mutations in Lrrc8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Lrrc8b APN 5 105,628,365 (GRCm39) missense probably damaging 0.96
IGL00519:Lrrc8b APN 5 105,629,591 (GRCm39) missense possibly damaging 0.82
IGL01799:Lrrc8b APN 5 105,633,757 (GRCm39) missense probably benign
IGL02005:Lrrc8b APN 5 105,628,920 (GRCm39) missense probably benign 0.22
IGL02205:Lrrc8b APN 5 105,629,703 (GRCm39) missense probably benign 0.07
IGL03038:Lrrc8b APN 5 105,629,358 (GRCm39) missense probably damaging 0.98
IGL03076:Lrrc8b APN 5 105,629,415 (GRCm39) missense probably damaging 1.00
sospecho UTSW 5 105,628,622 (GRCm39) missense probably damaging 1.00
Whiff UTSW 5 105,628,137 (GRCm39) missense possibly damaging 0.80
IGL02796:Lrrc8b UTSW 5 105,629,211 (GRCm39) missense probably damaging 1.00
R0647:Lrrc8b UTSW 5 105,628,473 (GRCm39) missense possibly damaging 0.69
R0722:Lrrc8b UTSW 5 105,627,978 (GRCm39) missense possibly damaging 0.89
R1382:Lrrc8b UTSW 5 105,628,749 (GRCm39) missense probably damaging 1.00
R1437:Lrrc8b UTSW 5 105,629,568 (GRCm39) missense probably damaging 1.00
R1801:Lrrc8b UTSW 5 105,628,689 (GRCm39) missense probably damaging 1.00
R1888:Lrrc8b UTSW 5 105,629,217 (GRCm39) missense probably benign 0.12
R1888:Lrrc8b UTSW 5 105,629,217 (GRCm39) missense probably benign 0.12
R2169:Lrrc8b UTSW 5 105,629,753 (GRCm39) missense probably damaging 0.99
R4514:Lrrc8b UTSW 5 105,627,819 (GRCm39) missense probably damaging 1.00
R4898:Lrrc8b UTSW 5 105,628,080 (GRCm39) missense probably benign 0.19
R5243:Lrrc8b UTSW 5 105,628,812 (GRCm39) missense probably damaging 1.00
R5264:Lrrc8b UTSW 5 105,628,118 (GRCm39) missense probably damaging 0.98
R5424:Lrrc8b UTSW 5 105,628,569 (GRCm39) missense probably damaging 1.00
R5513:Lrrc8b UTSW 5 105,633,850 (GRCm39) missense probably damaging 1.00
R5632:Lrrc8b UTSW 5 105,628,163 (GRCm39) missense possibly damaging 0.81
R5799:Lrrc8b UTSW 5 105,629,208 (GRCm39) missense probably benign 0.19
R5800:Lrrc8b UTSW 5 105,629,208 (GRCm39) missense probably benign 0.19
R6637:Lrrc8b UTSW 5 105,628,137 (GRCm39) missense possibly damaging 0.80
R7249:Lrrc8b UTSW 5 105,629,133 (GRCm39) missense probably benign 0.23
R7253:Lrrc8b UTSW 5 105,629,522 (GRCm39) missense probably benign 0.01
R7558:Lrrc8b UTSW 5 105,629,577 (GRCm39) missense probably damaging 1.00
R8077:Lrrc8b UTSW 5 105,627,883 (GRCm39) missense possibly damaging 0.48
R8423:Lrrc8b UTSW 5 105,628,622 (GRCm39) missense probably damaging 1.00
R8480:Lrrc8b UTSW 5 105,633,802 (GRCm39) missense probably damaging 1.00
R8765:Lrrc8b UTSW 5 105,629,133 (GRCm39) missense probably benign
R8841:Lrrc8b UTSW 5 105,628,188 (GRCm39) missense probably benign 0.00
R8912:Lrrc8b UTSW 5 105,629,424 (GRCm39) missense probably damaging 1.00
R9040:Lrrc8b UTSW 5 105,628,161 (GRCm39) missense probably benign 0.02
R9432:Lrrc8b UTSW 5 105,633,888 (GRCm39) missense probably benign 0.07
Posted On 2014-01-21