Incidental Mutation 'R9259:Klhl38'
ID 702130
Institutional Source Beutler Lab
Gene Symbol Klhl38
Ensembl Gene ENSMUSG00000022357
Gene Name kelch-like 38
Synonyms 8230402K04Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R9259 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 58177969-58187565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58186471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 86 (E86G)
Ref Sequence ENSEMBL: ENSMUSP00000022985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022985]
AlphaFold Q8BSF5
Predicted Effect probably benign
Transcript: ENSMUST00000022985
AA Change: E86G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: E86G

DomainStartEndE-ValueType
BTB 34 131 2.12e-19 SMART
BACK 136 237 8.69e-29 SMART
Kelch 285 332 4.52e-1 SMART
Kelch 333 383 9.96e-4 SMART
Kelch 384 431 1.5e-1 SMART
Kelch 480 521 9.21e-8 SMART
Kelch 522 573 4.17e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot6 A G 12: 84,155,816 (GRCm39) I255V possibly damaging Het
Adcy8 A T 15: 64,576,604 (GRCm39) I986N probably damaging Het
Agr2 T A 12: 36,053,863 (GRCm39) M164K probably damaging Het
Akap11 G A 14: 78,749,949 (GRCm39) H813Y Het
Alas1 A T 9: 106,118,835 (GRCm39) S195T probably benign Het
Aldoart1 T C 4: 72,770,680 (GRCm39) T43A probably benign Het
Alms1 A G 6: 85,644,873 (GRCm39) D2537G possibly damaging Het
Alpk3 A G 7: 80,743,302 (GRCm39) T1040A probably damaging Het
Ankrd16 T C 2: 11,784,532 (GRCm39) I120T probably damaging Het
Anks4b A G 7: 119,773,278 (GRCm39) E46G probably benign Het
Ap3d1 A T 10: 80,559,661 (GRCm39) V199E probably damaging Het
Atp1a3 A G 7: 24,696,956 (GRCm39) S236P probably damaging Het
Atp5mc2 T A 15: 102,571,561 (GRCm39) N110I probably damaging Het
Cabin1 A G 10: 75,582,576 (GRCm39) M280T probably benign Het
Cdc5l T C 17: 45,736,817 (GRCm39) T134A possibly damaging Het
Clec4n C A 6: 123,212,424 (GRCm39) P80Q probably damaging Het
Clip3 A G 7: 29,998,375 (GRCm39) K274E probably benign Het
Cntrob A T 11: 69,211,665 (GRCm39) D186E possibly damaging Het
Cplane1 T C 15: 8,232,787 (GRCm39) V1102A possibly damaging Het
Dcun1d3 A G 7: 119,457,052 (GRCm39) V220A probably benign Het
Emsy A T 7: 98,242,757 (GRCm39) N1127K probably benign Het
Entpd2 C T 2: 25,288,614 (GRCm39) S206L probably damaging Het
Fgd4 T C 16: 16,295,325 (GRCm39) E218G probably damaging Het
Fkbp2 G T 19: 6,955,960 (GRCm39) Q82K probably benign Het
Gpr161 T C 1: 165,138,025 (GRCm39) Y204H probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gstt2 C T 10: 75,669,511 (GRCm39) D59N possibly damaging Het
Havcr1 A T 11: 46,661,318 (GRCm39) D206V probably damaging Het
Hoxb9 G A 11: 96,162,762 (GRCm39) G132D probably damaging Het
Ifi44 C T 3: 151,454,875 (GRCm39) V117M possibly damaging Het
Inhbe A G 10: 127,186,844 (GRCm39) F112S probably damaging Het
Iqgap2 A T 13: 95,766,561 (GRCm39) Y1481N probably damaging Het
Irak4 A T 15: 94,456,726 (GRCm39) H303L probably damaging Het
Kdm5d A G Y: 942,640 (GRCm39) E1435G possibly damaging Het
Kifc1 G T 17: 34,101,165 (GRCm39) T599K possibly damaging Het
Mcub G C 3: 129,720,070 (GRCm39) T141R probably benign Het
Moxd2 A T 6: 40,860,969 (GRCm39) V274D probably damaging Het
Nol6 C T 4: 41,118,229 (GRCm39) V803M possibly damaging Het
Or8b51 C T 9: 38,569,642 (GRCm39) probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pbld1 A G 10: 62,897,436 (GRCm39) T46A possibly damaging Het
Peli3 T C 19: 4,984,486 (GRCm39) D192G probably benign Het
Perm1 C T 4: 156,303,607 (GRCm39) T717I probably benign Het
Pim1 G A 17: 29,710,181 (GRCm39) A22T probably benign Het
Pkp2 C T 16: 16,043,714 (GRCm39) P156L probably damaging Het
Ppwd1 G A 13: 104,359,612 (GRCm39) R130C probably damaging Het
Prdm16 C A 4: 154,430,525 (GRCm39) W321L possibly damaging Het
Ptprd T A 4: 75,990,200 (GRCm39) D504V probably damaging Het
Pusl1 T C 4: 155,975,639 (GRCm39) T65A probably damaging Het
Rtcb A G 10: 85,774,925 (GRCm39) I490T probably damaging Het
Sec31b G T 19: 44,505,855 (GRCm39) L967I probably damaging Het
Sec63 A C 10: 42,699,937 (GRCm39) M666L probably benign Het
Sh3rf1 G C 8: 61,806,838 (GRCm39) A379P probably benign Het
Slc7a12 T A 3: 14,546,376 (GRCm39) L174I probably damaging Het
Sptbn4 C T 7: 27,067,124 (GRCm39) S1935N possibly damaging Het
Susd6 A T 12: 80,898,030 (GRCm39) Q55L probably benign Het
Tecpr2 A G 12: 110,897,867 (GRCm39) E373G possibly damaging Het
Tent5c T C 3: 100,379,640 (GRCm39) Y372C probably damaging Het
Tm6sf2 A T 8: 70,530,585 (GRCm39) I222L probably benign Het
Tsc22d1 T A 14: 76,654,484 (GRCm39) V321E probably damaging Het
Tspoap1 A G 11: 87,670,350 (GRCm39) N172S Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vcan G A 13: 89,838,989 (GRCm39) S2185F probably damaging Het
Wapl G T 14: 34,463,052 (GRCm39) V1131L probably benign Het
Zfp658 A G 7: 43,224,280 (GRCm39) M852V probably benign Het
Other mutations in Klhl38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01545:Klhl38 APN 15 58,185,854 (GRCm39) missense probably damaging 0.98
IGL01686:Klhl38 APN 15 58,186,707 (GRCm39) missense probably benign
IGL01978:Klhl38 APN 15 58,178,485 (GRCm39) missense probably damaging 0.99
IGL02227:Klhl38 APN 15 58,186,633 (GRCm39) missense possibly damaging 0.68
IGL02413:Klhl38 APN 15 58,186,417 (GRCm39) missense probably damaging 0.99
IGL02993:Klhl38 APN 15 58,185,851 (GRCm39) nonsense probably null
IGL03351:Klhl38 APN 15 58,186,726 (GRCm39) start codon destroyed probably null 0.97
enriched UTSW 15 58,185,809 (GRCm39) nonsense probably null
PIT4812001:Klhl38 UTSW 15 58,185,938 (GRCm39) missense probably benign
R2259:Klhl38 UTSW 15 58,178,374 (GRCm39) missense possibly damaging 0.70
R3813:Klhl38 UTSW 15 58,185,953 (GRCm39) missense probably benign
R4603:Klhl38 UTSW 15 58,186,616 (GRCm39) missense possibly damaging 0.49
R5503:Klhl38 UTSW 15 58,185,745 (GRCm39) missense possibly damaging 0.57
R6430:Klhl38 UTSW 15 58,185,707 (GRCm39) missense probably benign
R6500:Klhl38 UTSW 15 58,185,809 (GRCm39) nonsense probably null
R7299:Klhl38 UTSW 15 58,186,376 (GRCm39) missense probably damaging 0.98
R7301:Klhl38 UTSW 15 58,186,376 (GRCm39) missense probably damaging 0.98
R7862:Klhl38 UTSW 15 58,178,395 (GRCm39) missense probably damaging 1.00
R8039:Klhl38 UTSW 15 58,186,258 (GRCm39) missense probably benign 0.30
R8808:Klhl38 UTSW 15 58,178,225 (GRCm39) makesense probably null
R8867:Klhl38 UTSW 15 58,178,435 (GRCm39) missense probably benign 0.31
R8968:Klhl38 UTSW 15 58,185,500 (GRCm39) missense probably benign
R9061:Klhl38 UTSW 15 58,186,022 (GRCm39) missense probably damaging 0.97
Z1177:Klhl38 UTSW 15 58,178,332 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GATTTCTGCGAGTCTGACTAGG -3'
(R):5'- AAGACCACAGCTTCTCCTCTG -3'

Sequencing Primer
(F):5'- TCTGACTAGGCCCAGGCAATTG -3'
(R):5'- CTGACTTGTTAAGACAGCTCAATGGC -3'
Posted On 2022-03-25