Incidental Mutation 'R5851:Klhl33'
ID 454694
Institutional Source Beutler Lab
Gene Symbol Klhl33
Ensembl Gene ENSMUSG00000090799
Gene Name kelch-like 33
Synonyms EG546611
MMRRC Submission 044067-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R5851 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 51126038-51134940 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51130335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 386 (D386E)
Ref Sequence ENSEMBL: ENSMUSP00000154785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164415] [ENSMUST00000170855] [ENSMUST00000227271]
AlphaFold A0A2I3BRZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000164415
AA Change: D126E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: D126E

DomainStartEndE-ValueType
Pfam:BTB 1 70 5.7e-6 PFAM
BACK 75 176 3.59e-21 SMART
Kelch 273 322 5.26e-3 SMART
Kelch 323 369 7.83e-11 SMART
Kelch 370 418 1.46e-1 SMART
Kelch 419 465 2.84e-8 SMART
Kelch 466 514 6.08e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170855
SMART Domains Protein: ENSMUSP00000131456
Gene: ENSMUSG00000090799

DomainStartEndE-ValueType
SCOP:d1buoa_ 83 129 2e-3 SMART
Blast:BTB 109 170 2e-18 BLAST
SCOP:d1jkjb2 142 198 2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226765
Predicted Effect probably damaging
Transcript: ENSMUST00000227271
AA Change: D386E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3696 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,332,322 (GRCm39) N1452D possibly damaging Het
Abhd15 T C 11: 77,409,273 (GRCm39) L329P probably benign Het
Add3 T C 19: 53,225,205 (GRCm39) S442P probably damaging Het
Arhgef18 T C 8: 3,484,980 (GRCm39) F228L probably damaging Het
Bptf A T 11: 107,001,688 (GRCm39) Y475N probably damaging Het
C3 T C 17: 57,518,612 (GRCm39) N1257S probably null Het
Cdkl1 A T 12: 69,803,338 (GRCm39) Y179* probably null Het
Ceacam1 T C 7: 25,174,025 (GRCm39) N210S possibly damaging Het
Celf3 T A 3: 94,386,433 (GRCm39) I7N probably damaging Het
Clxn T A 16: 14,738,300 (GRCm39) L155H probably damaging Het
Cmpk1 A G 4: 114,844,167 (GRCm39) V55A possibly damaging Het
Csrnp1 C T 9: 119,802,144 (GRCm39) G305D possibly damaging Het
Dnah3 A G 7: 119,638,585 (GRCm39) S1266P possibly damaging Het
Edc4 T C 8: 106,617,499 (GRCm39) L1077P probably damaging Het
Fam174a G A 1: 95,252,868 (GRCm39) G157S probably damaging Het
Fubp3 T A 2: 31,488,622 (GRCm39) D159E probably benign Het
Garem2 C T 5: 30,319,288 (GRCm39) T250M probably damaging Het
H2-Eb1 C T 17: 34,528,745 (GRCm39) P92L probably benign Het
Ifnl3 G T 7: 28,222,936 (GRCm39) C69F probably damaging Het
Itga2b C A 11: 102,348,427 (GRCm39) probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Loricrin G A 3: 91,987,846 (GRCm39) A480V unknown Het
Msh3 G T 13: 92,352,030 (GRCm39) Q1041K probably benign Het
Mtrex G A 13: 113,045,486 (GRCm39) R349W probably damaging Het
Myo1e G A 9: 70,291,086 (GRCm39) G959E probably benign Het
Nfat5 G T 8: 108,074,359 (GRCm39) V338L probably damaging Het
Nrf1 A G 6: 30,089,975 (GRCm39) H18R possibly damaging Het
Nup160 A G 2: 90,537,382 (GRCm39) D752G probably benign Het
Obscn A T 11: 58,885,526 (GRCm39) L2489* probably null Het
Or4p22 A G 2: 88,317,204 (GRCm39) I43V possibly damaging Het
Or51q1c A G 7: 103,652,659 (GRCm39) E59G probably benign Het
Paip1 T C 13: 119,577,301 (GRCm39) S215P possibly damaging Het
Pate2 T A 9: 35,581,797 (GRCm39) Y26* probably null Het
Pcdhb10 A G 18: 37,545,811 (GRCm39) I296V probably benign Het
Pdzph1 T G 17: 59,280,741 (GRCm39) T514P probably benign Het
Pnlip G A 19: 58,662,224 (GRCm39) W123* probably null Het
Prmt2 C A 10: 76,072,574 (GRCm39) C9F possibly damaging Het
Rbl1 T A 2: 157,009,245 (GRCm39) K763N probably benign Het
Rfk C T 19: 17,372,562 (GRCm39) A28V probably damaging Het
Scart1 C T 7: 139,807,940 (GRCm39) P704S possibly damaging Het
Sdk1 G A 5: 141,948,424 (GRCm39) V590I probably benign Het
Sele A G 1: 163,877,143 (GRCm39) K140E probably benign Het
Sla G A 15: 66,655,572 (GRCm39) T189I probably damaging Het
Slc46a2 A G 4: 59,913,906 (GRCm39) V339A probably damaging Het
Slc5a9 A G 4: 111,742,797 (GRCm39) F432L probably benign Het
Slc6a19 A G 13: 73,839,859 (GRCm39) F141S possibly damaging Het
Tas2r123 T C 6: 132,824,271 (GRCm39) L56S probably damaging Het
Tektip1 A T 10: 81,200,711 (GRCm39) probably null Het
Tmem245 T C 4: 56,916,770 (GRCm39) I53V probably benign Het
Tor2a A T 2: 32,651,619 (GRCm39) Q278L probably benign Het
Trav6-3 A G 14: 53,667,572 (GRCm39) M15V probably benign Het
Ttc28 G A 5: 111,383,335 (GRCm39) probably benign Het
Ubap2 G A 4: 41,206,268 (GRCm39) Q534* probably null Het
Yju2 C T 17: 56,274,582 (GRCm39) S298F probably damaging Het
Zfp954 C A 7: 7,118,624 (GRCm39) E307* probably null Het
Zscan21 A G 5: 138,124,740 (GRCm39) K219E probably benign Het
Other mutations in Klhl33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Klhl33 APN 14 51,128,888 (GRCm39) missense probably benign 0.03
IGL01965:Klhl33 APN 14 51,129,187 (GRCm39) missense probably damaging 1.00
IGL02804:Klhl33 APN 14 51,130,411 (GRCm39) missense probably damaging 1.00
IGL02830:Klhl33 APN 14 51,129,214 (GRCm39) missense probably damaging 1.00
R0309:Klhl33 UTSW 14 51,128,868 (GRCm39) missense probably damaging 0.97
R0520:Klhl33 UTSW 14 51,129,140 (GRCm39) missense probably damaging 1.00
R0671:Klhl33 UTSW 14 51,129,851 (GRCm39) missense probably damaging 0.99
R0894:Klhl33 UTSW 14 51,129,583 (GRCm39) missense probably damaging 0.99
R0989:Klhl33 UTSW 14 51,129,279 (GRCm39) missense probably damaging 1.00
R1681:Klhl33 UTSW 14 51,130,534 (GRCm39) missense probably benign 0.28
R1795:Klhl33 UTSW 14 51,129,583 (GRCm39) missense probably damaging 0.99
R2088:Klhl33 UTSW 14 51,130,230 (GRCm39) nonsense probably null
R3114:Klhl33 UTSW 14 51,128,972 (GRCm39) missense possibly damaging 0.61
R5650:Klhl33 UTSW 14 51,129,285 (GRCm39) missense probably benign 0.08
R5995:Klhl33 UTSW 14 51,130,108 (GRCm39) missense possibly damaging 0.83
R6365:Klhl33 UTSW 14 51,129,294 (GRCm39) missense probably benign
R6434:Klhl33 UTSW 14 51,130,564 (GRCm39) missense probably damaging 1.00
R6803:Klhl33 UTSW 14 51,134,192 (GRCm39) missense probably damaging 0.99
R6881:Klhl33 UTSW 14 51,128,929 (GRCm39) missense probably benign 0.12
R6932:Klhl33 UTSW 14 51,129,373 (GRCm39) missense probably benign 0.03
R6953:Klhl33 UTSW 14 51,128,973 (GRCm39) missense possibly damaging 0.79
R6998:Klhl33 UTSW 14 51,130,478 (GRCm39) missense probably benign 0.00
R7545:Klhl33 UTSW 14 51,130,631 (GRCm39) missense probably damaging 1.00
R7985:Klhl33 UTSW 14 51,128,962 (GRCm39) missense probably benign 0.03
R8370:Klhl33 UTSW 14 51,129,689 (GRCm39) missense probably damaging 1.00
R8371:Klhl33 UTSW 14 51,129,689 (GRCm39) missense probably damaging 1.00
R8372:Klhl33 UTSW 14 51,129,689 (GRCm39) missense probably damaging 1.00
R8798:Klhl33 UTSW 14 51,130,565 (GRCm39) missense possibly damaging 0.95
R8923:Klhl33 UTSW 14 51,129,882 (GRCm39) nonsense probably null
R9027:Klhl33 UTSW 14 51,130,322 (GRCm39) nonsense probably null
R9326:Klhl33 UTSW 14 51,134,615 (GRCm39) missense possibly damaging 0.82
R9341:Klhl33 UTSW 14 51,133,903 (GRCm39) critical splice donor site probably null
R9343:Klhl33 UTSW 14 51,133,903 (GRCm39) critical splice donor site probably null
R9354:Klhl33 UTSW 14 51,130,385 (GRCm39) missense probably benign
R9416:Klhl33 UTSW 14 51,130,225 (GRCm39) missense probably damaging 0.97
R9525:Klhl33 UTSW 14 51,128,929 (GRCm39) missense probably null 0.05
R9590:Klhl33 UTSW 14 51,130,042 (GRCm39) missense probably benign
R9657:Klhl33 UTSW 14 51,134,117 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAACTTCAGCTTCCACCATCAG -3'
(R):5'- TGTCAGAAAGCCTTGGCAC -3'

Sequencing Primer
(F):5'- TGGTACAGCAGATCGGGG -3'
(R):5'- ACAAAGCCTCTGCCCCG -3'
Posted On 2017-02-10