Incidental Mutation 'R6953:Klhl33'
ID 541332
Institutional Source Beutler Lab
Gene Symbol Klhl33
Ensembl Gene ENSMUSG00000090799
Gene Name kelch-like 33
Synonyms EG546611
MMRRC Submission 045065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R6953 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 51126038-51134940 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51128973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 752 (D752V)
Ref Sequence ENSEMBL: ENSMUSP00000154785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164415] [ENSMUST00000170855] [ENSMUST00000227271]
AlphaFold A0A2I3BRZ3
Predicted Effect probably benign
Transcript: ENSMUST00000164415
AA Change: D492V

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129810
Gene: ENSMUSG00000090799
AA Change: D492V

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 possibly damaging
Transcript: ENSMUST00000227271
AA Change: D752V

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik C A 15: 57,892,223 (GRCm39) S128I probably damaging Het
Aadacl2 A C 3: 59,932,181 (GRCm39) H232P possibly damaging Het
Abcc3 A G 11: 94,265,661 (GRCm39) Y125H probably benign Het
Adgrb3 A G 1: 25,865,592 (GRCm39) S84P probably damaging Het
Adgrd1 A T 5: 129,192,142 (GRCm39) K71* probably null Het
Ap2m1 T A 16: 20,361,468 (GRCm39) W381R probably damaging Het
Ascc3 A G 10: 50,521,762 (GRCm39) I426V probably benign Het
BC024063 T A 10: 81,943,733 (GRCm39) D31E possibly damaging Het
C3ar1 G A 6: 122,827,591 (GRCm39) H209Y possibly damaging Het
Ccp110 T C 7: 118,321,644 (GRCm39) V433A possibly damaging Het
Cfap54 A G 10: 92,830,540 (GRCm39) S1199P probably benign Het
Cyp24a1 T G 2: 170,329,866 (GRCm39) D362A probably benign Het
Dapk2 C G 9: 66,161,904 (GRCm39) R271G probably benign Het
Dnmt1 G T 9: 20,829,822 (GRCm39) Q633K probably benign Het
Ercc4 T A 16: 12,948,550 (GRCm39) V499D probably damaging Het
Ier3ip1 C G 18: 77,027,309 (GRCm39) P46R probably damaging Het
Ifi211 T C 1: 173,733,832 (GRCm39) T110A probably damaging Het
Isoc1 A G 18: 58,804,374 (GRCm39) D134G possibly damaging Het
Kif26b A G 1: 178,701,637 (GRCm39) D672G possibly damaging Het
Lcn4 A G 2: 26,559,367 (GRCm39) Y133H probably benign Het
Mrs2 C A 13: 25,185,771 (GRCm39) V134L probably benign Het
Muc16 T C 9: 18,551,825 (GRCm39) T4823A probably benign Het
Ogfod3 A G 11: 121,093,824 (GRCm39) I62T probably benign Het
Or2m13 C T 16: 19,226,278 (GRCm39) V164I probably benign Het
Or2y10 A G 11: 49,455,117 (GRCm39) Y123C probably damaging Het
Or6c204 A T 10: 129,022,474 (GRCm39) M272K probably benign Het
Or7e175 A T 9: 20,049,299 (GRCm39) I296L probably benign Het
Papln G A 12: 83,828,659 (GRCm39) W788* probably null Het
Pcdhac2 A G 18: 37,277,479 (GRCm39) Q153R probably benign Het
Pcdhgb2 C T 18: 37,823,807 (GRCm39) T266I possibly damaging Het
Pcdhgc5 C A 18: 37,953,514 (GRCm39) R263S possibly damaging Het
Phactr4 T C 4: 132,104,662 (GRCm39) T185A possibly damaging Het
Plcxd2 T C 16: 45,800,882 (GRCm39) D114G probably damaging Het
Polr2a A T 11: 69,632,537 (GRCm39) I987N probably damaging Het
Prl3d3 A G 13: 27,345,029 (GRCm39) M134V probably benign Het
Pum2 T A 12: 8,778,779 (GRCm39) probably null Het
Racgap1 T C 15: 99,524,210 (GRCm39) E399G probably damaging Het
Sbspon A T 1: 15,930,519 (GRCm39) S156T probably damaging Het
Scn1a T C 2: 66,149,813 (GRCm39) T927A probably damaging Het
Sec23ip C A 7: 128,354,520 (GRCm39) S78* probably null Het
Serpina1d G A 12: 103,733,989 (GRCm39) T105I probably benign Het
Slc25a21 T A 12: 57,205,954 (GRCm39) N26Y probably benign Het
Smim20 T A 5: 53,435,258 (GRCm39) D64E probably damaging Het
Spag17 T G 3: 99,942,291 (GRCm39) I772S possibly damaging Het
Tars2 T C 3: 95,660,426 (GRCm39) T99A possibly damaging Het
Tdrd1 C T 19: 56,819,803 (GRCm39) T101I probably damaging Het
Tldc2 T G 2: 156,931,198 (GRCm39) probably null Het
Ttn A G 2: 76,601,929 (GRCm39) Y10251H probably damaging Het
Ush2a A G 1: 187,995,342 (GRCm39) R38G possibly damaging Het
Usp19 T C 9: 108,376,130 (GRCm39) L991P possibly damaging Het
Vmn2r109 G A 17: 20,760,973 (GRCm39) P795S possibly damaging Het
Vmn2r26 T C 6: 124,016,741 (GRCm39) Y402H probably benign Het
Vmn2r-ps117 T G 17: 19,045,095 (GRCm39) I504R probably benign Het
Zfp551 A T 7: 12,150,715 (GRCm39) C231* probably null Het
Zfp607a T A 7: 27,577,790 (GRCm39) C287S possibly damaging Het
Zim1 T A 7: 6,690,706 (GRCm39) T40S unknown 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
R5851:Klhl33 UTSW 14 51,130,335 (GRCm39) missense probably damaging 1.00
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
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'- AGCAAGTAAGACCGTCTTCTCC -3'
(R):5'- AACTTAAGAGGCCTGGGACG -3'

Sequencing Primer
(F):5'- GTAAGACCGTCTTCTCCTCTCATAAG -3'
(R):5'- ACGCTTCTGAGCCCAATG -3'
Posted On 2018-11-28