Incidental Mutation 'IGL02993:Klhl38'
ID 407014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl38
Ensembl Gene ENSMUSG00000022357
Gene Name kelch-like 38
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02993
Quality Score
Status
Chromosome 15
Chromosomal Location 58314573-58324169 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 58322455 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 293 (K293*)
Ref Sequence ENSEMBL: ENSMUSP00000022985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022985]
AlphaFold Q8BSF5
Predicted Effect probably null
Transcript: ENSMUST00000022985
AA Change: K293*
SMART Domains Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: K293*

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,971,719 Y351H probably damaging Het
5830411N06Rik A G 7: 140,296,573 T537A probably benign Het
Abcd3 A C 3: 121,774,010 I434S probably benign Het
Actr2 C T 11: 20,072,514 R319Q probably damaging Het
Atp13a5 G T 16: 29,293,504 Y606* probably null Het
Baiap3 C T 17: 25,250,082 probably null Het
Cers2 A G 3: 95,320,085 Y8C probably benign Het
Ces1g T A 8: 93,317,079 M411L probably benign Het
Chd6 A G 2: 161,052,384 probably benign Het
Cyp2d40 C A 15: 82,761,521 K94N probably benign Het
Ddx51 T C 5: 110,655,621 V323A possibly damaging Het
Dock1 G A 7: 134,744,298 V190I probably benign Het
Evc2 A G 5: 37,419,157 T1042A probably benign Het
Fat4 T A 3: 38,957,155 S2135T probably damaging Het
Gpat2 T C 2: 127,427,566 F46S probably damaging Het
Map4k4 T C 1: 40,014,188 I916T probably damaging Het
Nrap T A 19: 56,345,533 K964M probably damaging Het
Osbpl5 T C 7: 143,699,334 probably null Het
Perm1 A G 4: 156,217,779 Q260R probably benign Het
Ralgapb T A 2: 158,437,394 N133K possibly damaging Het
Slfn9 T C 11: 82,981,196 S905G probably benign Het
Ssh2 C T 11: 77,453,544 T785I probably damaging Het
Stk16 C A 1: 75,213,004 Q69K probably damaging Het
Stk36 T C 1: 74,622,287 L491P probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tcp11 T C 17: 28,070,516 N194D probably damaging Het
Trio C A 15: 27,830,239 probably benign Het
Ugt2b1 A G 5: 86,921,991 V297A possibly damaging Het
Ugt2b5 T G 5: 87,137,232 H282P probably damaging Het
Usp53 A G 3: 122,933,843 M1030T probably damaging Het
Vmn1r234 T A 17: 21,229,703 I293N probably damaging Het
Vmn2r57 T A 7: 41,428,074 T223S probably benign Het
Wdr20 G T 12: 110,794,308 E543* probably null Het
Zbtb25 T A 12: 76,349,417 N344Y probably damaging Het
Zcchc2 T C 1: 106,030,168 F790L probably damaging Het
Other mutations in Klhl38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01545:Klhl38 APN 15 58322458 missense probably damaging 0.98
IGL01686:Klhl38 APN 15 58323311 missense probably benign
IGL01978:Klhl38 APN 15 58315089 missense probably damaging 0.99
IGL02227:Klhl38 APN 15 58323237 missense possibly damaging 0.68
IGL02413:Klhl38 APN 15 58323021 missense probably damaging 0.99
IGL03351:Klhl38 APN 15 58323330 start codon destroyed probably null 0.97
enriched UTSW 15 58322413 nonsense probably null
PIT4812001:Klhl38 UTSW 15 58322542 missense probably benign
R2259:Klhl38 UTSW 15 58314978 missense possibly damaging 0.70
R3813:Klhl38 UTSW 15 58322557 missense probably benign
R4603:Klhl38 UTSW 15 58323220 missense possibly damaging 0.49
R5503:Klhl38 UTSW 15 58322349 missense possibly damaging 0.57
R6430:Klhl38 UTSW 15 58322311 missense probably benign
R6500:Klhl38 UTSW 15 58322413 nonsense probably null
R7299:Klhl38 UTSW 15 58322980 missense probably damaging 0.98
R7301:Klhl38 UTSW 15 58322980 missense probably damaging 0.98
R7862:Klhl38 UTSW 15 58314999 missense probably damaging 1.00
R8039:Klhl38 UTSW 15 58322862 missense probably benign 0.30
R8808:Klhl38 UTSW 15 58314829 makesense probably null
R8867:Klhl38 UTSW 15 58315039 missense probably benign 0.31
R8968:Klhl38 UTSW 15 58322104 missense probably benign
R9061:Klhl38 UTSW 15 58322626 missense probably damaging 0.97
R9259:Klhl38 UTSW 15 58323075 missense probably benign 0.00
Z1177:Klhl38 UTSW 15 58314936 missense possibly damaging 0.91
Posted On 2016-08-02