Incidental Mutation 'IGL01377:Klhl31'
ID78748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl31
Ensembl Gene ENSMUSG00000044938
Gene Namekelch-like 31
SynonymsD930047P17Rik, 9830147P19Rik, Kbtbd1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01377
Quality Score
Status
Chromosome9
Chromosomal Location77636500-77660127 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77650731 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 243 (F243S)
Ref Sequence ENSEMBL: ENSMUSP00000059643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057781]
Predicted Effect probably benign
Transcript: ENSMUST00000057781
AA Change: F243S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000059643
Gene: ENSMUSG00000044938
AA Change: F243S

DomainStartEndE-ValueType
low complexity region 4 12 N/A INTRINSIC
low complexity region 30 44 N/A INTRINSIC
BTB 73 167 3.39e-18 SMART
BACK 172 273 1.91e-25 SMART
Kelch 317 365 5.58e-1 SMART
Kelch 366 419 4.98e-4 SMART
Kelch 420 466 1.05e-11 SMART
Kelch 467 513 4.01e-8 SMART
Kelch 514 565 1.41e-3 SMART
Kelch 566 614 1.1e0 SMART
low complexity region 617 633 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,973,452 probably null Het
A530064D06Rik A T 17: 48,152,940 V196D probably damaging Het
Ago1 C T 4: 126,459,817 V279M probably damaging Het
Ccdc170 A G 10: 4,560,966 D675G probably damaging Het
Cdc42bpa T A 1: 180,065,143 Y291N probably damaging Het
Cdca5 T C 19: 6,090,282 S158P probably damaging Het
Cdh8 A G 8: 99,033,389 I576T probably damaging Het
Cpsf2 T A 12: 101,987,381 probably null Het
Cyc1 C T 15: 76,344,962 R143* probably null Het
Dcaf6 A T 1: 165,388,724 S437T probably benign Het
Eif5b A G 1: 38,036,098 D552G probably benign Het
Epor T C 9: 21,959,297 D429G probably damaging Het
Farp2 A G 1: 93,603,459 I560V possibly damaging Het
Fbxw21 T A 9: 109,146,645 R228* probably null Het
Fyb T C 15: 6,580,320 S125P probably benign Het
Gfm1 A T 3: 67,474,753 Y720F probably damaging Het
Hspbap1 T A 16: 35,825,311 D455E possibly damaging Het
Katnal2 T C 18: 77,002,457 R285G probably damaging Het
Kif12 G A 4: 63,170,725 T153I probably damaging Het
Large2 A G 2: 92,369,331 Y208H probably damaging Het
Lrp1b A G 2: 40,601,538 V239A probably damaging Het
Mblac2 G A 13: 81,750,147 R214H probably damaging Het
Mlf2 A G 6: 124,934,691 N168D probably damaging Het
Mtmr6 T A 14: 60,282,034 Y134* probably null Het
Mtus1 T C 8: 41,083,135 K515E possibly damaging Het
Nek1 A G 8: 61,089,456 T718A probably benign Het
Nfx1 A G 4: 40,977,241 N305S probably benign Het
Nrxn3 T A 12: 89,533,012 probably null Het
Nsf T C 11: 103,872,647 D377G probably damaging Het
Pde4b A G 4: 102,487,402 E102G probably damaging Het
Pdlim4 G T 11: 54,056,304 S56R probably benign Het
Poc5 T C 13: 96,401,631 V268A probably benign Het
Sec23b A C 2: 144,559,237 E6A probably damaging Het
Sgsm1 A T 5: 113,276,182 probably benign Het
Slc16a12 T A 19: 34,672,684 N317I possibly damaging Het
Slc1a7 A T 4: 107,992,965 D91V probably damaging Het
Slc30a9 T G 5: 67,315,830 S86A probably benign Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tacr1 T C 6: 82,403,655 S16P probably benign Het
Tmtc1 A C 6: 148,245,787 V804G possibly damaging Het
Ttc7b A G 12: 100,355,112 F587L probably benign Het
Vmn2r86 A T 10: 130,452,986 D215E probably damaging Het
Other mutations in Klhl31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:Klhl31 APN 9 77650260 missense possibly damaging 0.88
IGL01939:Klhl31 APN 9 77655206 missense probably benign 0.01
IGL02806:Klhl31 APN 9 77655774 missense probably damaging 0.97
IGL03377:Klhl31 APN 9 77651063 nonsense probably null
itty UTSW 9 77650809 missense probably damaging 1.00
R0399:Klhl31 UTSW 9 77650653 missense probably benign 0.05
R1596:Klhl31 UTSW 9 77650074 missense probably damaging 0.97
R1598:Klhl31 UTSW 9 77651016 missense possibly damaging 0.92
R2199:Klhl31 UTSW 9 77650101 missense probably damaging 1.00
R2265:Klhl31 UTSW 9 77650158 missense possibly damaging 0.82
R2269:Klhl31 UTSW 9 77650158 missense possibly damaging 0.82
R3619:Klhl31 UTSW 9 77655476 missense probably benign 0.00
R4197:Klhl31 UTSW 9 77650809 missense probably damaging 1.00
R4279:Klhl31 UTSW 9 77655839 missense unknown
R5195:Klhl31 UTSW 9 77650290 missense possibly damaging 0.56
R5912:Klhl31 UTSW 9 77655730 missense probably damaging 1.00
R7516:Klhl31 UTSW 9 77651147 missense probably damaging 1.00
Posted On2013-11-05