Incidental Mutation 'IGL01978:Klhl38'
ID181774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl38
Ensembl Gene ENSMUSG00000022357
Gene Namekelch-like 38
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL01978
Quality Score
Status
Chromosome15
Chromosomal Location58314573-58324169 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 58315089 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 495 (D495G)
Ref Sequence ENSEMBL: ENSMUSP00000022985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022985]
Predicted Effect probably damaging
Transcript: ENSMUST00000022985
AA Change: D495G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: D495G

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,219,382 N1805I probably damaging Het
9830107B12Rik T A 17: 48,145,993 T6S probably damaging Het
Acot5 T C 12: 84,075,398 V252A possibly damaging Het
Bmper A T 9: 23,381,441 N349Y probably damaging Het
Brap A G 5: 121,678,847 probably benign Het
Col9a2 G A 4: 121,044,666 G139E unknown Het
Cyp2j8 A C 4: 96,504,009 probably null Het
Dcbld2 A G 16: 58,464,319 D612G probably benign Het
Dsc3 C T 18: 19,974,196 R456Q possibly damaging Het
Fat2 T C 11: 55,270,146 T3253A probably benign Het
Hoxc12 T A 15: 102,936,864 H4Q probably damaging Het
Il6st A G 13: 112,497,357 E445G possibly damaging Het
Ipo8 T C 6: 148,777,289 E937G probably benign Het
Kif5a A C 10: 127,245,739 D185E probably benign Het
Klra5 A G 6: 129,911,430 V11A probably benign Het
Lrch1 G A 14: 74,786,342 T581M probably damaging Het
Mecom A G 3: 29,963,166 I450T probably damaging Het
Mrgprb2 C A 7: 48,552,564 V138L probably damaging Het
Muc15 G A 2: 110,731,596 A126T probably benign Het
Mybpc1 A T 10: 88,531,770 I522K probably damaging Het
Nectin1 G A 9: 43,792,147 R234H probably damaging Het
Olfr1450 T C 19: 12,954,042 F151S probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Pdia6 T A 12: 17,274,422 H91Q possibly damaging Het
Pfkfb4 A T 9: 109,028,942 H445L probably damaging Het
Pkd1l1 T C 11: 8,961,336 T314A unknown Het
Rb1cc1 A G 1: 6,238,368 D159G probably damaging Het
Rhoh T A 5: 65,892,688 S100R probably benign Het
Rsbn1 T A 3: 103,961,500 D618E probably damaging Het
Slc25a47 T C 12: 108,851,190 V4A probably damaging Het
Svs3b T A 2: 164,256,621 M1L probably benign Het
Thsd7a T C 6: 12,331,006 N1379S probably benign Het
Tmed3 T C 9: 89,704,753 D58G probably benign Het
Trh G A 6: 92,242,615 A240V probably benign Het
Ubox5 A T 2: 130,600,452 V105E probably benign Het
Vmn2r67 A G 7: 85,151,441 probably null Het
Vps13c A G 9: 67,930,643 H1825R probably benign Het
Wasf1 C A 10: 40,936,201 P329T unknown Het
Wee2 T C 6: 40,455,153 F219L probably damaging Het
Zp3r T C 1: 130,598,941 D175G 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
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
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
Z1177:Klhl38 UTSW 15 58314936 missense possibly damaging 0.91
Posted On2014-05-07