Incidental Mutation 'R3873:Klhl13'
ID474311
Institutional Source Beutler Lab
Gene Symbol Klhl13
Ensembl Gene ENSMUSG00000036782
Gene Namekelch-like 13
SynonymsD130072F20Rik, Bklhd2, 1200009K10Rik
MMRRC Submission 040791-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #R3873 (G1)
Quality Score222
Status Not validated
ChromosomeX
Chromosomal Location23219271-23365082 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 23285176 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 21 (D21G)
Ref Sequence ENSEMBL: ENSMUSP00000110974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035973] [ENSMUST00000115313] [ENSMUST00000115317] [ENSMUST00000115319]
Predicted Effect probably benign
Transcript: ENSMUST00000035973
SMART Domains Protein: ENSMUSP00000041190
Gene: ENSMUSG00000036782

DomainStartEndE-ValueType
BTB 75 174 6.43e-19 SMART
BACK 179 280 5.87e-26 SMART
Kelch 324 372 4.58e-3 SMART
Kelch 373 424 1.38e-6 SMART
Kelch 425 471 6.71e-10 SMART
Kelch 472 518 3.68e-7 SMART
Kelch 519 570 1.69e-6 SMART
Kelch 571 619 1.25e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115313
SMART Domains Protein: ENSMUSP00000110968
Gene: ENSMUSG00000036782

DomainStartEndE-ValueType
BTB 41 140 6.43e-19 SMART
BACK 145 246 5.87e-26 SMART
Kelch 290 338 4.58e-3 SMART
Kelch 339 390 1.38e-6 SMART
Kelch 391 437 6.71e-10 SMART
Kelch 438 484 3.68e-7 SMART
Kelch 485 536 1.69e-6 SMART
Kelch 537 585 1.25e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115317
SMART Domains Protein: ENSMUSP00000110972
Gene: ENSMUSG00000036782

DomainStartEndE-ValueType
BTB 91 190 6.43e-19 SMART
BACK 195 296 5.87e-26 SMART
Kelch 340 388 4.58e-3 SMART
Kelch 389 440 1.38e-6 SMART
Kelch 441 487 6.71e-10 SMART
Kelch 488 534 3.68e-7 SMART
Kelch 535 586 1.69e-6 SMART
Kelch 587 635 1.25e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115319
AA Change: D21G

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110974
Gene: ENSMUSG00000036782
AA Change: D21G

DomainStartEndE-ValueType
BTB 85 184 6.43e-19 SMART
BACK 189 290 5.87e-26 SMART
Kelch 334 382 4.58e-3 SMART
Kelch 383 434 1.38e-6 SMART
Kelch 435 481 6.71e-10 SMART
Kelch 482 528 3.68e-7 SMART
Kelch 529 580 1.69e-6 SMART
Kelch 581 629 1.25e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153345
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik A T 5: 98,737,623 I130F probably damaging Het
Abca5 T A 11: 110,310,233 Y447F probably damaging Het
Acaca A G 11: 84,312,721 probably benign Het
Adam5 T C 8: 24,815,109 T110A probably benign Het
Agtpbp1 T C 13: 59,460,596 M175V possibly damaging Het
Akt1 T C 12: 112,656,533 N367S probably benign Het
Ankrd61 T A 5: 143,891,828 T67S probably damaging Het
Arl8a T C 1: 135,152,872 probably null Het
Arvcf G A 16: 18,403,033 R736Q probably damaging Het
Baz2a T A 10: 128,124,110 M1419K probably damaging Het
Cep295 A T 9: 15,333,365 V1265E probably damaging Het
Cyp2c29 A G 19: 39,329,144 D397G probably damaging Het
Dlgap4 T C 2: 156,749,347 S818P probably benign Het
Dnah2 A G 11: 69,429,348 I3965T probably damaging Het
Dst A G 1: 34,289,620 T4590A probably damaging Het
Fscb G T 12: 64,473,132 P520Q unknown Het
Gli1 T A 10: 127,331,356 N676I probably damaging Het
Gm8332 T C 12: 88,249,706 D132G unknown Het
Hspg2 T C 4: 137,539,349 I1916T probably damaging Het
Igfals G A 17: 24,881,605 V557I possibly damaging Het
Il7 A T 3: 7,604,164 V4D probably damaging Het
Itgae T A 11: 73,113,616 I243N probably damaging Het
Itpa T G 2: 130,681,010 S176A probably damaging Het
Krt26 T C 11: 99,334,744 K304E probably damaging Het
Ly6g6e T C 17: 35,077,183 V10A probably benign Het
Morc3 G A 16: 93,862,436 V411I probably damaging Het
Mrpl32 G T 13: 14,613,045 probably benign Het
Ncald G A 15: 37,397,253 A61V probably damaging Het
Nek2 T C 1: 191,827,208 V275A probably benign Het
Olfr101 T A 17: 37,299,979 T148S probably benign Het
Olfr1022 T A 2: 85,868,962 Y123* probably null Het
Olfr1156 T A 2: 87,949,530 R234S probably damaging Het
Olfr1310 T C 2: 112,008,323 T288A possibly damaging Het
Pgam5 T C 5: 110,265,599 Y210C probably damaging Het
Phf5a T C 15: 81,870,427 N50D probably benign Het
Prl7d1 A G 13: 27,716,668 M1T probably null Het
Sacs A G 14: 61,192,286 K595R possibly damaging Het
Scyl3 A G 1: 163,950,637 N448S probably benign Het
Serpinb9g A T 13: 33,486,535 D2V probably benign Het
Sgsh A G 11: 119,350,947 L111P probably damaging Het
Smg1 T C 7: 118,154,662 probably benign Het
Taar1 T C 10: 23,920,584 L60P probably damaging Het
Tmem51 T C 4: 142,031,748 T230A probably damaging Het
Ubr4 T C 4: 139,423,990 V623A probably damaging Het
Usp34 C T 11: 23,489,033 P3532S possibly damaging Het
Vipr2 T C 12: 116,136,104 probably benign Het
Vmn2r16 T C 5: 109,340,311 M350T probably benign Het
Vmn2r22 T C 6: 123,637,380 E417G possibly damaging Het
Vmn2r9 C A 5: 108,847,835 V316F probably benign Het
Zfp53 C T 17: 21,508,631 P309S probably damaging Het
Other mutations in Klhl13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1951:Klhl13 UTSW X 23261581 splice site probably benign
R3698:Klhl13 UTSW X 23248183 missense probably benign 0.06
R3874:Klhl13 UTSW X 23285176 missense probably benign 0.06
R4241:Klhl13 UTSW X 23315175 missense probably damaging 0.99
R4242:Klhl13 UTSW X 23315175 missense probably damaging 0.99
Predicted Primers
Posted On2017-04-14