Incidental Mutation 'IGL03246:Klhl28'
ID414394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl28
Ensembl Gene ENSMUSG00000020948
Gene Namekelch-like 28
SynonymsBtbd5, 4122402F11Rik, 2810440N09Rik, 4931401E10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #IGL03246
Quality Score
Status
Chromosome12
Chromosomal Location64938833-64965534 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64957286 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 151 (D151G)
Ref Sequence ENSEMBL: ENSMUSP00000152602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021331] [ENSMUST00000222508]
Predicted Effect probably benign
Transcript: ENSMUST00000021331
AA Change: D151G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948
AA Change: D151G

DomainStartEndE-ValueType
BTB 35 132 3.55e-30 SMART
BACK 137 239 1.83e-36 SMART
Kelch 284 331 3.52e-4 SMART
Kelch 332 386 4.23e-7 SMART
Kelch 387 433 1.99e-12 SMART
Kelch 434 479 1.64e-13 SMART
Kelch 480 526 5.12e-15 SMART
Kelch 527 571 5.29e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221957
Predicted Effect probably benign
Transcript: ENSMUST00000222508
AA Change: D151G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 127,395,615 H392Q probably benign Het
Alox8 T A 11: 69,186,015 I547L probably damaging Het
Capn13 T C 17: 73,382,860 H52R probably benign Het
Cfap57 T A 4: 118,576,645 I979L probably benign Het
Ctdnep1 T C 11: 69,984,330 probably benign Het
Ercc5 C A 1: 44,167,081 P385T probably damaging Het
Fam98a C T 17: 75,538,853 M299I probably damaging Het
Flcn A T 11: 59,794,110 I505N possibly damaging Het
Fn1 G A 1: 71,624,296 T1011I possibly damaging Het
Gm12355 T A 11: 98,625,293 R85* probably null Het
Gm44 C A X: 90,892,402 H87Q probably benign Het
Klk13 T A 7: 43,720,998 N28K probably damaging Het
Macc1 T C 12: 119,446,685 V396A probably benign Het
Magi2 T A 5: 20,358,950 I360K probably damaging Het
Myh7b T C 2: 155,617,872 I251T probably damaging Het
Naalad2 A T 9: 18,385,099 I85K possibly damaging Het
Olfr290 T C 7: 84,916,711 C311R probably benign Het
Pbrm1 A T 14: 31,110,549 M1490L probably benign Het
Pclo C T 5: 14,677,617 probably benign Het
Pdcd6ip T C 9: 113,678,417 K357R possibly damaging Het
Pnpla6 C T 8: 3,531,530 T601I probably benign Het
Pof1b A T X: 112,648,120 N366K probably benign Het
Prr9 A G 3: 92,122,979 probably benign Het
Ptprz1 G T 6: 22,986,160 A320S probably damaging Het
Ripor1 A G 8: 105,615,858 Y187C possibly damaging Het
Rnf13 A G 3: 57,769,050 E42G probably damaging Het
Sdf4 T C 4: 156,000,697 V163A probably benign Het
Smc2 C T 4: 52,440,301 Q16* probably null Het
Tbck T A 3: 132,774,570 C737S probably benign Het
Tra2a A T 6: 49,249,085 Y140* probably null Het
Vcpip1 A C 1: 9,745,957 L734V probably benign Het
Vmn1r87 G A 7: 13,132,361 probably benign Het
Other mutations in Klhl28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Klhl28 APN 12 64950066 missense probably damaging 1.00
IGL03059:Klhl28 APN 12 64951566 missense probably benign 0.00
R0014:Klhl28 UTSW 12 64957302 missense probably benign 0.06
R0607:Klhl28 UTSW 12 64951755 missense probably damaging 1.00
R0975:Klhl28 UTSW 12 64951688 missense possibly damaging 0.67
R1134:Klhl28 UTSW 12 64951617 missense probably benign 0.01
R1480:Klhl28 UTSW 12 64957221 missense probably damaging 1.00
R1675:Klhl28 UTSW 12 64951819 missense probably damaging 1.00
R2064:Klhl28 UTSW 12 64943472 missense probably benign 0.05
R3832:Klhl28 UTSW 12 64951421 missense probably damaging 1.00
R3896:Klhl28 UTSW 12 64957559 missense probably damaging 1.00
R4327:Klhl28 UTSW 12 64950178 missense probably damaging 1.00
R4612:Klhl28 UTSW 12 64957260 missense probably damaging 0.99
R4817:Klhl28 UTSW 12 64957269 missense probably benign 0.00
R4872:Klhl28 UTSW 12 64957122 missense possibly damaging 0.94
R5007:Klhl28 UTSW 12 64957227 missense probably damaging 0.98
R5008:Klhl28 UTSW 12 64957227 missense probably damaging 0.98
R5010:Klhl28 UTSW 12 64957227 missense probably damaging 0.98
R5068:Klhl28 UTSW 12 64957712 missense probably benign 0.10
R5070:Klhl28 UTSW 12 64957712 missense probably benign 0.10
R6666:Klhl28 UTSW 12 64943527 missense probably benign 0.11
Posted On2016-08-02