Incidental Mutation 'IGL01686:Klhl38'
ID103968
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: 0.068) question?
Stock #IGL01686
Quality Score
Status
Chromosome15
Chromosomal Location58314573-58324169 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58323311 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 7 (D7E)
Ref Sequence ENSEMBL: ENSMUSP00000022985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022985]
Predicted Effect probably benign
Transcript: ENSMUST00000022985
AA Change: D7E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022985
Gene: ENSMUSG00000022357
AA Change: D7E

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,603,075 V1316A possibly damaging Het
Ada T G 2: 163,730,316 K254N probably benign Het
Adamts17 A G 7: 66,840,289 R40G probably benign Het
Akr1d1 C T 6: 37,530,243 probably benign Het
Aldh1l1 T A 6: 90,559,233 probably benign Het
Bbox1 T A 2: 110,265,486 I378F probably benign Het
BC028528 T C 3: 95,888,900 N50S probably damaging Het
Casp8ap2 T A 4: 32,641,294 S783T possibly damaging Het
Cmpk2 C T 12: 26,477,178 R389W probably damaging Het
Cplx1 C T 5: 108,548,527 probably null Het
Crim1 T C 17: 78,344,434 L529P probably benign Het
Ctps A G 4: 120,553,986 S278P probably benign Het
Defb21 C A 2: 152,574,901 probably benign Het
Ecm1 T A 3: 95,736,064 N308I probably benign Het
Flg2 T C 3: 93,202,284 S540P unknown Het
Gabrp G T 11: 33,552,826 S346* probably null Het
Gli2 C A 1: 118,848,435 C419F probably damaging Het
Grid2 T A 6: 64,320,196 F514L probably benign Het
Hormad1 T G 3: 95,578,269 M256R probably benign Het
Itsn2 T G 12: 4,636,693 probably benign Het
Map3k1 G A 13: 111,754,662 T1248I possibly damaging Het
Mki67 A T 7: 135,707,813 V303E probably benign Het
Mterf4 A T 1: 93,304,721 L136* probably null Het
Mtmr14 A G 6: 113,240,430 D61G possibly damaging Het
Nf2 A T 11: 4,818,613 D85E probably benign Het
Nmnat2 G T 1: 153,076,997 probably benign Het
Olfm3 T A 3: 115,122,848 D476E probably benign Het
Olfr297 T C 7: 86,526,778 V7A probably benign Het
Olfr920 T A 9: 38,756,254 C189S probably damaging Het
Pdia6 T C 12: 17,283,957 probably benign Het
Prrg1 G A X: 78,483,782 A47V probably damaging Het
Rgs22 A T 15: 36,103,835 I160K probably benign Het
Sardh T C 2: 27,189,613 Y889C probably damaging Het
Syne2 C A 12: 75,909,336 D605E probably benign Het
Other mutations in Klhl38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01545:Klhl38 APN 15 58322458 missense probably damaging 0.98
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
IGL03351:Klhl38 APN 15 58323330 start codon destroyed probably null 0.97
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
Posted On2014-01-21