Incidental Mutation 'IGL01545:Klhl38'
ID 90281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl38
Ensembl Gene ENSMUSG00000022357
Gene Name kelch-like 38
Synonyms 8230402K04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01545
Quality Score
Status
Chromosome 15
Chromosomal Location 58177969-58187565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58185854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 292 (R292W)
Ref Sequence ENSEMBL: ENSMUSP00000022985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022985]
AlphaFold Q8BSF5
Predicted Effect probably damaging
Transcript: ENSMUST00000022985
AA Change: R292W

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: R292W

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147638
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,376,228 (GRCm39) S213L probably benign Het
Adgrv1 A G 13: 81,614,303 (GRCm39) I4030T possibly damaging Het
Ap4b1 G A 3: 103,720,143 (GRCm39) R55H probably benign Het
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Atp6v1h T A 1: 5,159,282 (GRCm39) M55K probably benign Het
B3galt4 A C 17: 34,170,187 (GRCm39) V17G probably benign Het
Cd79a A T 7: 24,600,691 (GRCm39) M172L probably benign Het
Cry1 A T 10: 85,020,226 (GRCm39) L37H possibly damaging Het
D5Ertd615e A T 5: 45,326,755 (GRCm39) noncoding transcript Het
Dnah17 A T 11: 118,010,394 (GRCm39) L308Q probably damaging Het
Dnah7a C T 1: 53,557,941 (GRCm39) A2158T probably benign Het
Dusp2 A G 2: 127,179,695 (GRCm39) T313A probably benign Het
Fam110c T C 12: 31,124,982 (GRCm39) S315P probably damaging Het
Fcer2a G A 8: 3,733,598 (GRCm39) R198* probably null Het
Fryl G A 5: 73,211,940 (GRCm39) T2359M probably damaging Het
Gm14221 G A 2: 160,410,303 (GRCm39) noncoding transcript Het
Gpc6 T G 14: 118,202,242 (GRCm39) L484R probably damaging Het
Igdcc3 G A 9: 65,087,355 (GRCm39) V298M probably damaging Het
Impg2 T A 16: 56,046,080 (GRCm39) probably benign Het
Iqca1 T A 1: 89,973,364 (GRCm39) M803L probably benign Het
Itga4 T C 2: 79,146,314 (GRCm39) probably benign Het
Katnip A G 7: 125,352,143 (GRCm39) probably null Het
Kidins220 T C 12: 25,090,459 (GRCm39) F1141S possibly damaging Het
Kif7 A G 7: 79,352,026 (GRCm39) I912T probably damaging Het
Lama3 A G 18: 12,574,188 (GRCm39) D590G probably benign Het
Map4k4 T C 1: 40,053,389 (GRCm39) probably benign Het
Mbd4 A T 6: 115,827,758 (GRCm39) D39E probably damaging Het
Mrm2 A G 5: 140,317,010 (GRCm39) V8A probably benign Het
Myod1 A T 7: 46,026,539 (GRCm39) E148V probably damaging Het
Or5d47 A C 2: 87,804,895 (GRCm39) I38S probably benign Het
Pdcd10 A T 3: 75,448,475 (GRCm39) F30I possibly damaging Het
Ptcd1 T A 5: 145,096,346 (GRCm39) H249L probably damaging Het
Ptcd3 A T 6: 71,865,561 (GRCm39) D451E probably benign Het
Rab44 C A 17: 29,366,351 (GRCm39) S680R unknown Het
Rad21l A T 2: 151,497,084 (GRCm39) D340E probably benign Het
Ranbp2 T C 10: 58,314,703 (GRCm39) F1808L possibly damaging Het
Rnf122 T C 8: 31,618,630 (GRCm39) V126A probably damaging Het
Slc25a47 G T 12: 108,820,142 (GRCm39) V49L probably benign Het
Slc36a2 T C 11: 55,075,633 (GRCm39) probably null Het
Sorl1 G A 9: 41,955,252 (GRCm39) R668W probably damaging Het
Tbx19 T A 1: 164,966,725 (GRCm39) N383I possibly damaging Het
Tenm4 A G 7: 96,523,510 (GRCm39) H1676R probably benign Het
Tgm5 G T 2: 120,883,289 (GRCm39) R351S probably damaging Het
Tmem106b A G 6: 13,071,842 (GRCm39) S34G probably benign Het
Trmo C T 4: 46,386,169 (GRCm39) G119R probably damaging Het
Ubr4 G A 4: 139,170,140 (GRCm39) probably benign Het
Wfdc11 A G 2: 164,507,365 (GRCm39) probably null Het
Xrn2 T A 2: 146,880,099 (GRCm39) I474K probably benign Het
Zfp827 A G 8: 79,797,063 (GRCm39) K383R probably damaging Het
Other mutations in Klhl38
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9259:Klhl38 UTSW 15 58,186,471 (GRCm39) missense probably benign 0.00
Z1177:Klhl38 UTSW 15 58,178,332 (GRCm39) missense possibly damaging 0.91
Posted On 2013-12-03