Incidental Mutation 'IGL02590:Klhl42'
ID299710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl42
Ensembl Gene ENSMUSG00000040102
Gene Namekelch-like 42
SynonymsKlhdc5, C230080I20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02590
Quality Score
Status
Chromosome6
Chromosomal Location147091379-147112778 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 147092312 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 261 (S261P)
Ref Sequence ENSEMBL: ENSMUSP00000042558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036003]
Predicted Effect probably damaging
Transcript: ENSMUST00000036003
AA Change: S261P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042558
Gene: ENSMUSG00000040102
AA Change: S261P

DomainStartEndE-ValueType
BTB 5 145 1.14e-1 SMART
low complexity region 151 164 N/A INTRINSIC
Kelch 242 289 1.79e-5 SMART
Kelch 290 332 1.25e-9 SMART
Kelch 333 379 1.56e1 SMART
Blast:Kelch 380 437 3e-31 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,457,834 F118S probably damaging Het
Adam5 T G 8: 24,744,135 probably benign Het
Bok T C 1: 93,686,675 probably benign Het
C1s1 C T 6: 124,531,276 V585I possibly damaging Het
Chd2 C T 7: 73,453,200 V1346I probably benign Het
Cyb5a A T 18: 84,871,607 T54S probably benign Het
Dnah7b A T 1: 46,123,777 T428S probably benign Het
Efhc1 T C 1: 20,967,384 Y262H probably damaging Het
Fyb2 A T 4: 104,979,053 I404F probably damaging Het
Glra2 T C X: 165,254,226 N237S probably benign Het
Gypc A G 18: 32,530,007 *96R probably null Het
Il15 T C 8: 82,343,283 I51V probably benign Het
Itgb2 T C 10: 77,559,513 C483R probably damaging Het
Kdr C T 5: 75,936,323 D1272N probably benign Het
Kif14 C A 1: 136,496,004 T969K probably benign Het
Lrp1 C A 10: 127,552,791 G3263V probably damaging Het
Mid1 A G X: 169,927,023 E5G probably damaging Het
Mmrn2 T A 14: 34,399,267 L698* probably null Het
Myh14 T G 7: 44,624,079 Q1393P probably damaging Het
Ncoa7 C T 10: 30,694,163 E267K probably damaging Het
Obox5 T C 7: 15,757,592 I19T possibly damaging Het
Olfr1054 A G 2: 86,333,000 S119P possibly damaging Het
Olfr53 A G 7: 140,652,392 probably null Het
Pcnx A G 12: 81,994,978 Y2128C probably damaging Het
Plcb1 A G 2: 135,294,864 D293G probably benign Het
Prpf4b T C 13: 34,888,146 probably benign Het
Psapl1 A T 5: 36,205,053 T330S probably benign Het
Rap1gap A G 4: 137,720,300 T453A probably damaging Het
Ric1 T A 19: 29,567,481 probably benign Het
Robo1 A G 16: 73,043,132 E1590G probably benign Het
Sorl1 C T 9: 42,046,561 V596I probably benign Het
Tlr12 A G 4: 128,617,389 I356T probably benign Het
Trav8d-2 T C 14: 53,042,449 S8P possibly damaging Het
Tyms C A 5: 30,064,151 V75L probably benign Het
Vmn1r230 T A 17: 20,846,910 S120R probably damaging Het
Vmn2r84 T A 10: 130,391,487 probably benign Het
Wdr27 C T 17: 14,917,779 A388T possibly damaging Het
Other mutations in Klhl42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Klhl42 APN 6 147101733 missense probably damaging 1.00
IGL01401:Klhl42 APN 6 147107743 missense probably benign 0.03
R0045:Klhl42 UTSW 6 147092168 missense probably benign
R1066:Klhl42 UTSW 6 147107899 missense probably benign
R1920:Klhl42 UTSW 6 147107929 missense probably damaging 1.00
R1951:Klhl42 UTSW 6 147091823 missense probably damaging 0.99
R2017:Klhl42 UTSW 6 147107793 missense probably benign 0.04
R2021:Klhl42 UTSW 6 147091896 missense possibly damaging 0.59
R2065:Klhl42 UTSW 6 147101663 missense probably damaging 1.00
R2128:Klhl42 UTSW 6 147101753 missense probably benign 0.00
R2982:Klhl42 UTSW 6 147091616 missense probably damaging 1.00
R3415:Klhl42 UTSW 6 147107880 missense probably damaging 1.00
R3416:Klhl42 UTSW 6 147107880 missense probably damaging 1.00
R3417:Klhl42 UTSW 6 147107880 missense probably damaging 1.00
R4450:Klhl42 UTSW 6 147091671 missense probably benign 0.16
R4967:Klhl42 UTSW 6 147108004 missense possibly damaging 0.77
R5342:Klhl42 UTSW 6 147092286 missense possibly damaging 0.86
R5556:Klhl42 UTSW 6 147108112 missense probably benign 0.00
R6269:Klhl42 UTSW 6 147092307 missense probably damaging 1.00
R7375:Klhl42 UTSW 6 147092040 missense probably benign
R7769:Klhl42 UTSW 6 147091860 missense possibly damaging 0.95
R7848:Klhl42 UTSW 6 147108100 missense probably damaging 1.00
Posted On2015-04-16