Incidental Mutation 'IGL03153:Klhl10'
ID 411170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl10
Ensembl Gene ENSMUSG00000001558
Gene Name kelch-like 10
Synonyms 4921517C11Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.387) question?
Stock # IGL03153
Quality Score
Status
Chromosome 11
Chromosomal Location 100332743-100347848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100347758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 605 (T605S)
Ref Sequence ENSEMBL: ENSMUSP00000001599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001599]
AlphaFold Q9D5V2
Predicted Effect probably benign
Transcript: ENSMUST00000001599
AA Change: T605S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001599
Gene: ENSMUSG00000001558
AA Change: T605S

DomainStartEndE-ValueType
BTB 39 136 1.09e-30 SMART
BACK 141 244 6.58e-38 SMART
Kelch 292 339 2.99e-7 SMART
Kelch 340 386 2.66e-13 SMART
Kelch 387 433 1.7e-11 SMART
Kelch 434 480 1.47e-15 SMART
Kelch 481 527 2.2e-14 SMART
Kelch 528 574 3.6e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]
PHENOTYPE: Disruption of one allele results in haploinsufficient male infertility in which heterozygous and chimeric males have a block in spermiogenesis. Female chimeras are fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,465,563 (GRCm39) E419G possibly damaging Het
Abcg3 A G 5: 105,122,631 (GRCm39) probably benign Het
Adam17 T C 12: 21,395,698 (GRCm39) D256G probably damaging Het
Adgrb3 G A 1: 25,570,978 (GRCm39) R500* probably null Het
Aldh3a2 A G 11: 61,149,665 (GRCm39) Y234H probably damaging Het
Alpk3 A G 7: 80,743,143 (GRCm39) T987A probably benign Het
Amtn A G 5: 88,532,828 (GRCm39) K148E possibly damaging Het
Asap1 G A 15: 64,032,123 (GRCm39) T237M probably damaging Het
Ccdc124 A T 8: 71,321,573 (GRCm39) probably null Het
Cdon T C 9: 35,389,255 (GRCm39) Y787H probably damaging Het
Cimip4 T C 15: 78,269,516 (GRCm39) D188G probably damaging Het
Coro7 A G 16: 4,453,246 (GRCm39) probably null Het
Dram2 T A 3: 106,462,490 (GRCm39) probably benign Het
Drd5 T C 5: 38,477,124 (GRCm39) V39A probably benign Het
Ern1 A G 11: 106,300,924 (GRCm39) L490P possibly damaging Het
Fat1 A G 8: 45,483,160 (GRCm39) T3083A possibly damaging Het
Irgm1 A G 11: 48,757,094 (GRCm39) I239T probably damaging Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lgi4 G T 7: 30,759,983 (GRCm39) V60F probably damaging Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Lmf1 A G 17: 25,804,624 (GRCm39) S97G possibly damaging Het
Oasl2 A G 5: 115,039,393 (GRCm39) T194A probably benign Het
Or5ac17 A G 16: 59,036,566 (GRCm39) S137P probably benign Het
Pnpo A T 11: 96,834,661 (GRCm39) F12I probably damaging Het
Prdm4 T C 10: 85,743,860 (GRCm39) T132A probably benign Het
Ptbp2 T C 3: 119,545,593 (GRCm39) T118A probably benign Het
Ptf1a T A 2: 19,451,456 (GRCm39) probably benign Het
Rev3l T A 10: 39,682,874 (GRCm39) F331I probably damaging Het
Rfx6 C A 10: 51,599,217 (GRCm39) S524* probably null Het
Scube3 A G 17: 28,386,032 (GRCm39) S758G possibly damaging Het
Slc44a2 T C 9: 21,254,496 (GRCm39) I257T probably benign Het
Spon1 A T 7: 113,629,579 (GRCm39) I408F probably damaging Het
Srpk1 C A 17: 28,811,240 (GRCm39) D541Y possibly damaging Het
Tenm4 A T 7: 96,522,969 (GRCm39) I1467F probably damaging Het
Uggt1 A C 1: 36,241,899 (GRCm39) V345G possibly damaging Het
Vmn1r23 A T 6: 57,902,917 (GRCm39) I287K probably damaging Het
Whamm A G 7: 81,239,280 (GRCm39) probably benign Het
Zeb1 A G 18: 5,770,511 (GRCm39) D888G probably damaging Het
Zfp263 A G 16: 3,564,744 (GRCm39) N253S possibly damaging Het
Zfp446 C A 7: 12,711,834 (GRCm39) A19E probably benign Het
Other mutations in Klhl10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Klhl10 APN 11 100,347,240 (GRCm39) missense probably damaging 1.00
IGL00540:Klhl10 APN 11 100,336,244 (GRCm39) missense probably benign 0.35
IGL00988:Klhl10 APN 11 100,347,110 (GRCm39) missense possibly damaging 0.82
IGL02078:Klhl10 APN 11 100,336,577 (GRCm39) missense probably benign 0.19
R0110:Klhl10 UTSW 11 100,347,758 (GRCm39) missense probably benign 0.00
R0532:Klhl10 UTSW 11 100,337,937 (GRCm39) unclassified probably benign
R1772:Klhl10 UTSW 11 100,333,022 (GRCm39) missense probably benign 0.15
R4017:Klhl10 UTSW 11 100,336,500 (GRCm39) missense probably benign 0.16
R4508:Klhl10 UTSW 11 100,333,002 (GRCm39) missense possibly damaging 0.87
R4772:Klhl10 UTSW 11 100,338,557 (GRCm39) missense probably benign 0.23
R4831:Klhl10 UTSW 11 100,336,669 (GRCm39) missense probably benign 0.04
R5267:Klhl10 UTSW 11 100,338,047 (GRCm39) missense probably benign 0.26
R7086:Klhl10 UTSW 11 100,347,768 (GRCm39) missense probably benign 0.02
R8223:Klhl10 UTSW 11 100,338,227 (GRCm39) missense probably damaging 1.00
R9076:Klhl10 UTSW 11 100,337,962 (GRCm39) missense possibly damaging 0.52
R9288:Klhl10 UTSW 11 100,347,719 (GRCm39) missense probably benign
R9324:Klhl10 UTSW 11 100,338,481 (GRCm39) missense probably benign 0.13
R9744:Klhl10 UTSW 11 100,336,396 (GRCm39) missense probably damaging 1.00
RF020:Klhl10 UTSW 11 100,332,896 (GRCm39) missense probably benign
Posted On 2016-08-02