Incidental Mutation 'IGL02078:Klhl10'
ID186037
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: 0.495) question?
Stock #IGL02078
Quality Score
Status
Chromosome11
Chromosomal Location100441917-100457022 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100445751 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 188 (D188G)
Ref Sequence ENSEMBL: ENSMUSP00000103018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001599] [ENSMUST00000092688] [ENSMUST00000092689] [ENSMUST00000107395] [ENSMUST00000107397] [ENSMUST00000107398] [ENSMUST00000107399]
Predicted Effect probably benign
Transcript: ENSMUST00000001599
AA Change: D188G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000001599
Gene: ENSMUSG00000001558
AA Change: D188G

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
Predicted Effect probably benign
Transcript: ENSMUST00000092688
SMART Domains Protein: ENSMUSP00000090360
Gene: ENSMUSG00000017176

DomainStartEndE-ValueType
Pfam:UMPH-1 44 289 6.2e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092689
SMART Domains Protein: ENSMUSP00000090361
Gene: ENSMUSG00000017176

DomainStartEndE-ValueType
Pfam:UMPH-1 1 246 1.2e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107395
AA Change: D188G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103018
Gene: ENSMUSG00000001558
AA Change: D188G

DomainStartEndE-ValueType
BTB 39 136 1.09e-30 SMART
BACK 141 239 5.74e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107397
SMART Domains Protein: ENSMUSP00000103020
Gene: ENSMUSG00000017176

DomainStartEndE-ValueType
Pfam:UMPH-1 36 281 1.9e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107398
SMART Domains Protein: ENSMUSP00000103021
Gene: ENSMUSG00000017176

DomainStartEndE-ValueType
Pfam:UMPH-1 44 261 3.5e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107399
SMART Domains Protein: ENSMUSP00000103022
Gene: ENSMUSG00000017176

DomainStartEndE-ValueType
Pfam:UMPH-1 44 261 3.5e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140381
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183660
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,972,685 K673Q possibly damaging Het
4933412E24Rik T C 15: 60,016,330 D87G probably benign Het
Acap1 C T 11: 69,895,286 R18Q probably damaging Het
Atp1a1 A C 3: 101,591,863 V140G probably damaging Het
Bmpr1b G A 3: 141,870,737 P112S possibly damaging Het
Chst8 T A 7: 34,675,334 N360I possibly damaging Het
Cldn23 A T 8: 35,826,205 V43E possibly damaging Het
Clta T C 4: 44,030,232 F168S probably damaging Het
Cyp2c40 T C 19: 39,767,482 I463V probably benign Het
E2f2 A G 4: 136,193,012 D436G probably damaging Het
Fbxo24 T G 5: 137,624,349 T52P probably damaging Het
Gria4 G A 9: 4,793,878 A60V probably damaging Het
Grm1 C T 10: 10,689,610 V985M probably benign Het
Hexa A G 9: 59,557,303 T159A probably benign Het
Inf2 T A 12: 112,601,614 V200E probably damaging Het
Kif20b T A 19: 34,935,644 V319E probably damaging Het
Mobp G A 9: 120,167,914 R37H probably damaging Het
Mybpc2 T A 7: 44,503,780 D1086V probably damaging Het
Nadk A C 4: 155,579,403 probably benign Het
Olfr853 T A 9: 19,537,453 H159L probably benign Het
Per1 A G 11: 69,104,299 E619G probably damaging Het
Rab3gap1 G A 1: 127,868,915 probably benign Het
Rimkla A G 4: 119,468,147 L355P probably damaging Het
Rnf139 A G 15: 58,900,031 D635G possibly damaging Het
Sall1 T A 8: 89,030,375 N1034Y probably damaging Het
Serpinb13 A T 1: 106,998,958 Q228L probably damaging Het
Sin3b G T 8: 72,753,580 M903I possibly damaging Het
Slco1a5 A T 6: 142,254,446 M204K probably benign Het
Smo A G 6: 29,754,708 D259G possibly damaging Het
Sult2a4 T C 7: 13,989,544 I15M probably benign Het
Ttn T A 2: 76,942,441 probably null Het
Wdtc1 C A 4: 133,305,960 D176Y probably damaging 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
IGL03153:Klhl10 APN 11 100456932 missense probably benign
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
R8223:Klhl10 UTSW 11 100447401 missense probably damaging 1.00
RF020:Klhl10 UTSW 11 100442070 missense probably benign
Posted On2014-05-07