Incidental Mutation 'IGL03153:Klhl10'
ID411170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl10
Ensembl Gene ENSMUSG00000001558
Gene Namekelch-like 10
Synonyms4921517C11Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.468) question?
Stock #IGL03153
Quality Score
Status
Chromosome11
Chromosomal Location100441917-100457022 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 100456932 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 605 (T605S)
Ref Sequence ENSEMBL: ENSMUSP00000001599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001599]
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: 62,547,326 E419G possibly damaging Het
Abcg3 A G 5: 104,974,765 probably benign Het
Adam17 T C 12: 21,345,697 D256G probably damaging Het
Adgrb3 G A 1: 25,531,897 R500* probably null Het
Aldh3a2 A G 11: 61,258,839 Y234H probably damaging Het
Alpk3 A G 7: 81,093,395 T987A probably benign Het
Amtn A G 5: 88,384,969 K148E possibly damaging Het
Asap1 G A 15: 64,160,274 T237M probably damaging Het
Ccdc124 A T 8: 70,868,929 probably null Het
Cdon T C 9: 35,477,959 Y787H probably damaging Het
Coro7 A G 16: 4,635,382 probably null Het
Dram2 T A 3: 106,555,174 probably benign Het
Drd5 T C 5: 38,319,781 V39A probably benign Het
Ern1 A G 11: 106,410,098 L490P possibly damaging Het
Fat1 A G 8: 45,030,123 T3083A possibly damaging Het
Irgm1 A G 11: 48,866,267 I239T probably damaging Het
Lcor T A 19: 41,558,356 S126R probably damaging Het
Lgi4 G T 7: 31,060,558 V60F probably damaging Het
Lin37 G A 7: 30,557,160 R84W probably damaging Het
Lmf1 A G 17: 25,585,650 S97G possibly damaging Het
Oasl2 A G 5: 114,901,332 T194A probably benign Het
Olfr199 A G 16: 59,216,203 S137P probably benign Het
Pnpo A T 11: 96,943,835 F12I probably damaging Het
Prdm4 T C 10: 85,907,996 T132A probably benign Het
Ptbp2 T C 3: 119,751,944 T118A probably benign Het
Ptf1a T A 2: 19,446,645 probably benign Het
Rev3l T A 10: 39,806,878 F331I probably damaging Het
Rfx6 C A 10: 51,723,121 S524* probably null Het
Scube3 A G 17: 28,167,058 S758G possibly damaging Het
Slc44a2 T C 9: 21,343,200 I257T probably benign Het
Spon1 A T 7: 114,030,344 I408F probably damaging Het
Srpk1 C A 17: 28,592,266 D541Y possibly damaging Het
Tenm4 A T 7: 96,873,762 I1467F probably damaging Het
Tex33 T C 15: 78,385,316 D188G probably damaging Het
Uggt1 A C 1: 36,202,818 V345G possibly damaging Het
Vmn1r23 A T 6: 57,925,932 I287K probably damaging Het
Whamm A G 7: 81,589,532 probably benign Het
Zeb1 A G 18: 5,770,511 D888G probably damaging Het
Zfp263 A G 16: 3,746,880 N253S possibly damaging Het
Zfp446 C A 7: 12,977,907 A19E probably benign Het
Other mutations in Klhl10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Klhl10 APN 11 100456414 missense probably damaging 1.00
IGL00540:Klhl10 APN 11 100445418 missense probably benign 0.35
IGL00988:Klhl10 APN 11 100456284 missense possibly damaging 0.82
IGL02078:Klhl10 APN 11 100445751 missense probably benign 0.19
R0110:Klhl10 UTSW 11 100456932 missense probably benign 0.00
R0532:Klhl10 UTSW 11 100447111 unclassified probably benign
R1772:Klhl10 UTSW 11 100442196 missense probably benign 0.15
R4017:Klhl10 UTSW 11 100445674 missense probably benign 0.16
R4508:Klhl10 UTSW 11 100442176 missense possibly damaging 0.87
R4772:Klhl10 UTSW 11 100447731 missense probably benign 0.23
R4831:Klhl10 UTSW 11 100445843 missense probably benign 0.04
R5267:Klhl10 UTSW 11 100447221 missense probably benign 0.26
R7086:Klhl10 UTSW 11 100456942 missense probably benign 0.02
Posted On2016-08-02