Incidental Mutation 'R4279:Klhl31'
ID 322806
Institutional Source Beutler Lab
Gene Symbol Klhl31
Ensembl Gene ENSMUSG00000044938
Gene Name kelch-like 31
Synonyms 9830147P19Rik, Kbtbd1, D930047P17Rik
MMRRC Submission 041079-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4279 (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 77563121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 629 (S629P)
Ref Sequence ENSEMBL: ENSMUSP00000059643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057781]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000057781
AA Change: S629P
SMART Domains Protein: ENSMUSP00000059643
Gene: ENSMUSG00000044938
AA Change: S629P

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 0.1040 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 T A 15: 96,269,637 (GRCm39) L1250Q probably damaging Het
Ccdc73 A T 2: 104,815,355 (GRCm39) N364Y possibly damaging Het
Ccl25 T A 8: 4,399,829 (GRCm39) L56Q probably damaging Het
Ctnnd2 C A 15: 30,905,966 (GRCm39) A871E probably damaging Het
Cyp2b23 C T 7: 26,365,452 (GRCm39) S461N possibly damaging Het
Dgat2 C A 7: 98,813,912 (GRCm39) G120V probably damaging Het
Dsp A T 13: 38,369,207 (GRCm39) I768F probably damaging Het
Dzank1 T C 2: 144,333,765 (GRCm39) E356G probably benign Het
Fam120a A T 13: 49,042,734 (GRCm39) V889D probably benign Het
Fxyd5 C A 7: 30,734,811 (GRCm39) D139Y probably null Het
Gcnt2 T C 13: 41,041,666 (GRCm39) V275A probably benign Het
Gimap4 A G 6: 48,667,511 (GRCm39) I89V probably benign Het
Gm6578 G A 6: 12,100,187 (GRCm39) noncoding transcript Het
Jmjd8 A G 17: 26,048,787 (GRCm39) probably benign Het
Jmy G C 13: 93,635,390 (GRCm39) P142R probably damaging Het
Jmy C A 13: 93,635,781 (GRCm39) D12Y probably damaging Het
Kif13b G T 14: 65,016,805 (GRCm39) A1324S probably damaging Het
Lpar1 A G 4: 58,487,115 (GRCm39) V52A possibly damaging Het
Lrp5 A G 19: 3,641,778 (GRCm39) S1395P possibly damaging Het
Mogs T C 6: 83,093,048 (GRCm39) L132P probably damaging Het
Ncam1 C A 9: 49,418,259 (GRCm39) probably benign Het
Ndufs8 A T 19: 3,961,014 (GRCm39) F88I probably damaging Het
Nos2 T A 11: 78,820,602 (GRCm39) L69Q probably benign Het
Or51a6 T A 7: 102,604,292 (GRCm39) Q179L probably benign Het
Pls3 A T X: 74,846,138 (GRCm39) I192N probably benign Het
Psmd6 T C 14: 14,112,297 (GRCm38) N388S possibly damaging Het
Rrbp1 T C 2: 143,805,028 (GRCm39) T1046A probably benign Het
Scn11a T C 9: 119,583,428 (GRCm39) E1729G probably benign Het
Slc6a3 A G 13: 73,692,953 (GRCm39) D191G possibly damaging Het
Slc9a1 T C 4: 133,139,400 (GRCm39) F206S probably benign Het
Tmc5 A G 7: 118,273,886 (GRCm39) *968W probably null Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Unc13a T C 8: 72,119,311 (GRCm39) K9R probably damaging Het
Vegfa A G 17: 46,342,392 (GRCm39) V142A probably benign Het
Vmn1r119 T A 7: 20,745,786 (GRCm39) M199L probably benign Het
Vnn1 A T 10: 23,774,410 (GRCm39) D151V possibly damaging Het
Zfp365 A T 10: 67,733,431 (GRCm39) F254I 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
R4197:Klhl31 UTSW 9 77,558,091 (GRCm39) missense probably damaging 1.00
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'- TACATCGGCAGTGCGTACTC -3'
(R):5'- AATTGCTTCTTTTGTTGGCTACAGC -3'

Sequencing Primer
(F):5'- TCACGGTGGAGAGCTTCAGTC -3'
(R):5'- AACCACCGTCACTGTAGT -3'
Posted On 2015-06-20