Incidental Mutation 'R4271:Klhl15'
ID 322195
Institutional Source Beutler Lab
Gene Symbol Klhl15
Ensembl Gene ENSMUSG00000043929
Gene Name kelch-like 15
Synonyms 6330500C13Rik
MMRRC Submission 041076-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4271 (G1)
Quality Score 214
Status Not validated
Chromosome X
Chromosomal Location 93278205-93321330 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AG to A at 93296718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096369] [ENSMUST00000113908] [ENSMUST00000113911] [ENSMUST00000113915] [ENSMUST00000113916] [ENSMUST00000153900] [ENSMUST00000170594]
AlphaFold A2AAX3
Predicted Effect probably null
Transcript: ENSMUST00000096369
SMART Domains Protein: ENSMUSP00000094097
Gene: ENSMUSG00000043929

DomainStartEndE-ValueType
BTB 31 128 4.21e-23 SMART
BACK 133 237 2.2e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113908
SMART Domains Protein: ENSMUSP00000109541
Gene: ENSMUSG00000043929

DomainStartEndE-ValueType
BTB 31 128 4.21e-23 SMART
BACK 133 237 9.27e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113911
SMART Domains Protein: ENSMUSP00000109544
Gene: ENSMUSG00000043929

DomainStartEndE-ValueType
BTB 31 128 4.21e-23 SMART
BACK 133 237 9.27e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113915
SMART Domains Protein: ENSMUSP00000109548
Gene: ENSMUSG00000043929

DomainStartEndE-ValueType
BTB 31 128 4.21e-23 SMART
BACK 133 237 1.26e-16 SMART
Kelch 328 379 1.73e-3 SMART
Kelch 380 426 2.49e-4 SMART
Kelch 427 488 4.52e-1 SMART
Kelch 489 542 2.22e-10 SMART
Kelch 543 592 6.58e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113916
SMART Domains Protein: ENSMUSP00000109549
Gene: ENSMUSG00000043929

DomainStartEndE-ValueType
BTB 31 128 4.21e-23 SMART
BACK 133 237 1.26e-16 SMART
Kelch 328 379 1.73e-3 SMART
Kelch 380 426 2.49e-4 SMART
Kelch 427 488 4.52e-1 SMART
Kelch 489 542 2.22e-10 SMART
Kelch 543 592 6.58e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142691
Predicted Effect probably benign
Transcript: ENSMUST00000153900
SMART Domains Protein: ENSMUSP00000120863
Gene: ENSMUSG00000043929

DomainStartEndE-ValueType
BTB 31 105 2.79e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000170594
SMART Domains Protein: ENSMUSP00000129734
Gene: ENSMUSG00000043929

DomainStartEndE-ValueType
BTB 31 128 4.21e-23 SMART
BACK 133 237 1.26e-16 SMART
Kelch 328 379 1.73e-3 SMART
Kelch 380 426 2.49e-4 SMART
Kelch 427 488 4.52e-1 SMART
Kelch 489 542 2.22e-10 SMART
Kelch 543 592 6.58e0 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A G 2: 103,856,549 (GRCm39) probably benign Het
Acp6 T C 3: 97,073,934 (GRCm39) probably null Het
Actr6 T A 10: 89,553,101 (GRCm39) R252S probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Ash1l T A 3: 88,889,347 (GRCm39) C409S probably benign Het
Aspg T C 12: 112,087,629 (GRCm39) S327P probably damaging Het
B430203G13Rik CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 12: 17,974,358 (GRCm39) noncoding transcript Het
C1galt1 T C 6: 7,866,607 (GRCm39) F151S probably damaging Het
C1qtnf6 G A 15: 78,409,466 (GRCm39) T127I probably benign Het
Ccdc88c G T 12: 100,913,478 (GRCm39) Q516K probably damaging Het
Cdh11 T A 8: 103,391,258 (GRCm39) D326V possibly damaging Het
Cecr2 C T 6: 120,739,436 (GRCm39) H1360Y probably damaging Het
Cfap70 T C 14: 20,470,793 (GRCm39) E484G probably benign Het
Chml G A 1: 175,515,360 (GRCm39) T187M probably benign Het
Chpt1 C T 10: 88,317,214 (GRCm39) probably benign Het
Cmtr1 T C 17: 29,916,956 (GRCm39) S618P probably benign Het
Cspg4b G T 13: 113,478,904 (GRCm39) V1483L possibly damaging Het
Cyfip1 A T 7: 55,528,849 (GRCm39) M244L probably benign Het
Dock1 T C 7: 134,335,783 (GRCm39) I59T probably damaging Het
Duox1 T C 2: 122,154,856 (GRCm39) F414L probably damaging Het
Gm1110 A T 9: 26,806,944 (GRCm39) probably null Het
Gsap T C 5: 21,431,348 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,510 (GRCm39) Y111C probably damaging Het
Hectd4 AGCGGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGGCGG 5: 121,358,567 (GRCm39) probably benign Het
Kif12 T C 4: 63,088,983 (GRCm39) Q146R probably benign Het
Kif26a C T 12: 112,139,848 (GRCm39) S460F probably damaging Het
Lims1 T C 10: 58,246,026 (GRCm39) probably null Het
Nbr1 T C 11: 101,458,048 (GRCm39) Y276H possibly damaging Het
Nfe2l3 A G 6: 51,433,614 (GRCm39) D242G probably damaging Het
Oacyl T A 18: 65,871,038 (GRCm39) L340Q probably damaging Het
Or4n4b A T 14: 50,535,908 (GRCm39) I286N probably damaging Het
Or5p80 T A 7: 108,229,560 (GRCm39) Y120* probably null Het
Osbpl5 G T 7: 143,249,339 (GRCm39) Y543* probably null Het
Polr1a G A 6: 71,930,006 (GRCm39) E898K probably benign Het
Pramel51 A T 12: 88,145,053 (GRCm39) I91K probably damaging Het
Rad54l2 G A 9: 106,570,825 (GRCm39) A1165V probably benign Het
Rimbp2 T G 5: 128,896,841 (GRCm39) N23T probably benign Het
Scp2 T C 4: 107,942,408 (GRCm39) D306G probably damaging Het
Slco4a1 A G 2: 180,116,003 (GRCm39) D713G possibly damaging Het
Smarca2 T A 19: 26,698,349 (GRCm39) probably null Het
Spem2 T C 11: 69,708,251 (GRCm39) Y238C probably damaging Het
Srpk2 T A 5: 23,753,513 (GRCm39) H80L possibly damaging Het
Tmem161a T C 8: 70,634,162 (GRCm39) L365P probably damaging Het
Tsnax T C 8: 125,759,468 (GRCm39) L243P probably damaging Het
Ttn A G 2: 76,731,979 (GRCm39) probably benign Het
V1rd19 A G 7: 23,702,839 (GRCm39) T102A probably benign Het
Vmn2r94 T C 17: 18,463,940 (GRCm39) I783M probably damaging Het
Zeb1 C A 18: 5,758,985 (GRCm39) Q148K probably damaging Het
Other mutations in Klhl15
AlleleSourceChrCoordTypePredicted EffectPPH Score
Z1177:Klhl15 UTSW X 93,296,478 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTAGACAACTTCGTGCCAC -3'
(R):5'- CCTGGTTTATTCTTCACCCACAAAATG -3'

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