Incidental Mutation 'R4241:Klhl13'
Institutional Source Beutler Lab
Gene Symbol Klhl13
Ensembl Gene ENSMUSG00000036782
Gene Namekelch-like 13
SynonymsD130072F20Rik, Bklhd2, 1200009K10Rik
MMRRC Submission 041058-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #R4241 (G1)
Quality Score222
Status Validated
Chromosomal Location23219271-23365082 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23315175 bp
Amino Acid Change Aspartic acid to Valine at position 2 (D2V)
Ref Sequence ENSEMBL: ENSMUSP00000041190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035973] [ENSMUST00000115313]
Predicted Effect probably damaging
Transcript: ENSMUST00000035973
AA Change: D2V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041190
Gene: ENSMUSG00000036782
AA Change: D2V

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

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 noncoding transcript
Transcript: ENSMUST00000153345
Meta Mutation Damage Score 0.1837 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (49/50)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,154,335 S1575G probably damaging Het
Agl A T 3: 116,754,848 probably benign Het
Ap5b1 C T 19: 5,568,797 L82F possibly damaging Het
Arfgef3 A G 10: 18,625,164 S1113P probably damaging Het
Atoh1 A C 6: 64,729,774 N151T probably damaging Het
Bcas3 T A 11: 85,470,826 S25R probably damaging Het
Blcap T A 2: 157,560,423 probably benign Het
Btbd6 C T 12: 112,976,796 A13V probably benign Het
Ccdc83 A C 7: 90,247,138 N74K probably damaging Het
Cdh9 A G 15: 16,849,079 probably null Het
Chd1 C T 17: 15,770,027 R1614* probably null Het
Col16a1 G T 4: 130,099,050 Q1567H probably damaging Het
Coq6 A T 12: 84,373,789 probably benign Het
Cpd T C 11: 76,846,785 D61G probably benign Het
Csnk1e A G 15: 79,424,895 F277S probably damaging Het
Cyp2d41-ps T A 15: 82,779,586 noncoding transcript Het
Dbt T C 3: 116,533,296 I98T probably damaging Het
Eif3e G A 15: 43,262,690 T287I probably damaging Het
Gm7135 A G 1: 97,353,953 noncoding transcript Het
Gpr176 A T 2: 118,279,610 S389R probably benign Het
Hax1 A G 3: 89,995,690 S257P probably damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,448,348 probably null Het
Ighv1-53 C T 12: 115,158,822 C5Y probably benign Het
Kynu A T 2: 43,681,410 H446L probably benign Het
Lingo1 A G 9: 56,620,102 F401S probably damaging Het
Lmbrd1 C T 1: 24,692,968 Q89* probably null Het
Mov10 T A 3: 104,797,276 Q773L probably benign Het
Olfr1356 T A 10: 78,847,905 R3S probably benign Het
Olfr596 G T 7: 103,310,661 *313Y probably null Het
Pde6c G A 19: 38,162,845 G608S probably damaging Het
Peli3 T C 19: 4,932,398 H413R probably damaging Het
Pkdrej C T 15: 85,818,144 R1197Q probably damaging Het
Rcan2 T A 17: 43,953,479 V10D probably benign Het
Slc10a5 A G 3: 10,335,460 S47P probably damaging Het
Sprr3 A G 3: 92,456,907 V210A possibly damaging Het
Tcerg1l G T 7: 138,397,632 Q8K unknown Het
Ubfd1 T C 7: 122,071,754 V265A possibly damaging Het
Ubr1 T C 2: 120,934,386 D529G possibly damaging Het
Vmn1r180 A T 7: 23,952,873 I154F probably damaging Het
Vmn1r237 A G 17: 21,314,663 H216R possibly damaging Het
Whrn C T 4: 63,432,973 probably benign Het
Zfr T G 15: 12,149,659 D388E probably damaging Het
Zic5 T C 14: 122,464,663 I219V probably benign Het
Zmat5 A G 11: 4,728,614 N53D probably benign 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
R3873:Klhl13 UTSW X 23285176 missense probably benign 0.06
R3874:Klhl13 UTSW X 23285176 missense probably benign 0.06
R4242:Klhl13 UTSW X 23315175 missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-06-12