Incidental Mutation 'IGL03351:Klhl38'
ID 419732
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 # IGL03351
Quality Score
Status
Chromosome 15
Chromosomal Location 58314573-58324169 bp(-) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 58323330 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000022985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022985]
AlphaFold Q8BSF5
Predicted Effect probably null
Transcript: ENSMUST00000022985
AA Change: M1T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: M1T

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik G A X: 58,918,937 V19I probably benign Het
4932414N04Rik T A 2: 68,731,083 D251E probably benign Het
4932415D10Rik T C 10: 82,283,567 probably benign Het
5730460C07Rik C T 3: 153,789,958 noncoding transcript Het
Coch G A 12: 51,603,206 R326Q probably benign Het
Cpa3 A G 3: 20,215,962 V366A probably benign Het
Csf1r C T 18: 61,117,108 Q382* probably null Het
Csta1 C A 16: 36,131,041 G4* probably null Het
Cts7 T C 13: 61,356,603 R49G probably damaging Het
Dlg5 A G 14: 24,170,454 V575A probably benign Het
Ero1l G T 14: 45,294,533 N227K probably benign Het
Faap24 G T 7: 35,395,309 C58* probably null Het
Gm13089 G A 4: 143,697,088 T377I possibly damaging Het
Hfm1 G A 5: 106,911,575 Q194* probably null Het
Hs3st5 T A 10: 36,833,323 Y285N probably damaging Het
Hyal6 G A 6: 24,743,429 G375R probably damaging Het
Itgb5 T C 16: 33,910,552 S93P probably benign Het
Kcnj6 A T 16: 94,832,583 M205K probably damaging Het
Kdm6a C T X: 18,247,104 Q92* probably null Het
Krtap7-1 T C 16: 89,507,996 probably benign Het
L1cam T C X: 73,863,028 T270A probably damaging Het
Lmod2 A G 6: 24,598,016 N45S probably benign Het
Mmp2 A G 8: 92,839,342 I424V probably benign Het
Myh8 A G 11: 67,303,913 Q1650R possibly damaging Het
Naalad2 T A 9: 18,364,187 E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 T74A probably benign Het
Npr2 G T 4: 43,640,652 M368I probably benign Het
Nupl1 T C 14: 60,228,775 T445A probably benign Het
Olfr294 A G 7: 86,615,677 Y323H possibly damaging Het
Olfr582 A G 7: 103,042,130 D212G probably damaging Het
Pkp3 A G 7: 141,082,693 T73A probably benign Het
Pole A G 5: 110,301,998 probably benign Het
Ppp2r3a C T 9: 101,211,192 G644D probably benign Het
Ptprb T C 10: 116,339,582 Y1161H probably benign Het
Ptprs T A 17: 56,437,943 K264N probably damaging Het
Rasal2 T C 1: 157,192,741 probably benign Het
Serpina6 A T 12: 103,646,913 I376N probably damaging Het
Setx T G 2: 29,161,799 I2062M probably benign Het
Slc9c1 A G 16: 45,543,168 D99G probably benign Het
Taok1 A G 11: 77,560,328 Y309H probably damaging Het
Trappc10 T C 10: 78,188,761 D1178G probably damaging Het
Trav5-1 G A 14: 52,622,845 E36K probably damaging Het
Vmn1r237 T C 17: 21,314,837 V274A probably benign Het
Vmn1r29 A T 6: 58,307,750 S152C probably damaging Het
Washc5 C A 15: 59,363,350 probably benign Het
Zfp369 T G 13: 65,296,153 L370R possibly damaging Het
Zfp750 T C 11: 121,513,347 Y234C 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
IGL02993:Klhl38 APN 15 58322455 nonsense probably null
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