Incidental Mutation 'R4197:Klhl31'
ID 318601
Institutional Source Beutler Lab
Gene Symbol Klhl31
Ensembl Gene ENSMUSG00000044938
Gene Name kelch-like 31
Synonyms 9830147P19Rik, Kbtbd1, D930047P17Rik
MMRRC Submission 041028-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4197 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 77544014-77567407 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77558091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 269 (V269A)
Ref Sequence ENSEMBL: ENSMUSP00000059643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057781]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057781
AA Change: V269A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059643
Gene: ENSMUSG00000044938
AA Change: V269A

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
Meta Mutation Damage Score 0.7417 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccno G A 13: 113,125,603 (GRCm39) C189Y probably damaging Het
Cd36 T A 5: 18,018,086 (GRCm39) D209V probably damaging Het
Depdc5 T A 5: 33,148,547 (GRCm39) L1561Q possibly damaging Het
Dhx34 G T 7: 15,937,651 (GRCm39) H777N probably damaging Het
Dlat T C 9: 50,547,826 (GRCm39) T610A probably damaging Het
Efcab15 G A 11: 103,091,966 (GRCm39) S94L probably benign Het
Fip1l1 T A 5: 74,696,397 (GRCm39) D19E probably damaging Het
Gm5699 T A 1: 31,037,726 (GRCm39) noncoding transcript Het
Grin2a A C 16: 9,579,831 (GRCm39) F144C probably damaging Het
Klhl18 A T 9: 110,259,012 (GRCm39) probably null Het
Lypd10 A G 7: 24,413,119 (GRCm39) D146G probably benign Het
Mmel1 T C 4: 154,977,761 (GRCm39) I594T probably damaging Het
Myo9a T A 9: 59,802,149 (GRCm39) S1913T probably benign Het
Or6a2 T C 7: 106,600,245 (GRCm39) D274G probably damaging Het
Pcdhb14 A G 18: 37,581,358 (GRCm39) K155E probably benign Het
Pdcd10 A T 3: 75,424,899 (GRCm39) N189K possibly damaging Het
Pde3b T G 7: 114,130,107 (GRCm39) probably benign Het
Plxnb2 T C 15: 89,041,221 (GRCm39) N1775S probably damaging Het
Polr2a T C 11: 69,626,162 (GRCm39) S1625G unknown Het
Ptpn21 G T 12: 98,646,397 (GRCm39) H1020Q probably damaging Het
Rad23b C T 4: 55,385,455 (GRCm39) P331S probably damaging Het
Scel A T 14: 103,836,836 (GRCm39) N475Y probably damaging Het
Sema5a A G 15: 32,619,064 (GRCm39) T531A probably benign Het
Sf3b3 A T 8: 111,548,197 (GRCm39) L679Q probably damaging Het
Sipa1l3 A T 7: 29,100,238 (GRCm39) D10E possibly damaging Het
Slc44a4 G A 17: 35,137,228 (GRCm39) V84I probably benign Het
Slco5a1 G T 1: 12,964,740 (GRCm39) S512R probably damaging Het
Sv2c A T 13: 96,114,636 (GRCm39) F517I probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tnfsf11 A T 14: 78,521,752 (GRCm39) D152E probably benign Het
Trav13n-4 C T 14: 53,601,378 (GRCm39) T49I probably benign Het
Ttn T C 2: 76,716,422 (GRCm39) probably benign Het
Usp34 T C 11: 23,394,189 (GRCm39) S2261P probably damaging Het
Vmn2r87 G A 10: 130,315,779 (GRCm39) P96S possibly damaging Het
Xrcc6 A G 15: 81,913,425 (GRCm39) M353V probably benign Het
Other mutations in Klhl31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01377:Klhl31 APN 9 77,558,013 (GRCm39) missense probably benign 0.00
IGL01443:Klhl31 APN 9 77,557,542 (GRCm39) missense possibly damaging 0.88
IGL01939:Klhl31 APN 9 77,562,488 (GRCm39) missense probably benign 0.01
IGL02806:Klhl31 APN 9 77,563,056 (GRCm39) missense probably damaging 0.97
IGL03377:Klhl31 APN 9 77,558,345 (GRCm39) nonsense probably null
itty UTSW 9 77,558,091 (GRCm39) missense probably damaging 1.00
R0399:Klhl31 UTSW 9 77,557,935 (GRCm39) missense probably benign 0.05
R1596:Klhl31 UTSW 9 77,557,356 (GRCm39) missense probably damaging 0.97
R1598:Klhl31 UTSW 9 77,558,298 (GRCm39) missense possibly damaging 0.92
R2199:Klhl31 UTSW 9 77,557,383 (GRCm39) missense probably damaging 1.00
R2265:Klhl31 UTSW 9 77,557,440 (GRCm39) missense possibly damaging 0.82
R2269:Klhl31 UTSW 9 77,557,440 (GRCm39) missense possibly damaging 0.82
R3619:Klhl31 UTSW 9 77,562,758 (GRCm39) missense probably benign 0.00
R4279:Klhl31 UTSW 9 77,563,121 (GRCm39) missense unknown
R5195:Klhl31 UTSW 9 77,557,572 (GRCm39) missense possibly damaging 0.56
R5912:Klhl31 UTSW 9 77,563,012 (GRCm39) missense probably damaging 1.00
R7516:Klhl31 UTSW 9 77,558,429 (GRCm39) missense probably damaging 1.00
R7956:Klhl31 UTSW 9 77,557,903 (GRCm39) missense probably benign
R7967:Klhl31 UTSW 9 77,557,430 (GRCm39) missense probably damaging 1.00
R8766:Klhl31 UTSW 9 77,557,445 (GRCm39) missense possibly damaging 0.95
R9079:Klhl31 UTSW 9 77,558,151 (GRCm39) missense probably damaging 1.00
R9206:Klhl31 UTSW 9 77,558,389 (GRCm39) nonsense probably null
R9387:Klhl31 UTSW 9 77,557,826 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- CTTACGTTTGAACAGATTAACGAGC -3'
(R):5'- TGCTCCATCCATTTTCAGGG -3'

Sequencing Primer
(F):5'- CGTTTGAACAGATTAACGAGCTTCTC -3'
(R):5'- ACTTCTCAGTCAGGCCGG -3'
Posted On 2015-06-10