Incidental Mutation 'IGL02751:Klhl30'
ID306301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl30
Ensembl Gene ENSMUSG00000026308
Gene Namekelch-like 30
Synonyms4631423F02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02751
Quality Score
Status
Chromosome1
Chromosomal Location91351016-91362416 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 91354099 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 141 (F141I)
Ref Sequence ENSEMBL: ENSMUSP00000027533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027533]
Predicted Effect probably damaging
Transcript: ENSMUST00000027533
AA Change: F141I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027533
Gene: ENSMUSG00000026308
AA Change: F141I

DomainStartEndE-ValueType
BTB 33 130 1.41e-24 SMART
BACK 135 237 5.11e-26 SMART
Kelch 328 378 2.2e-5 SMART
Kelch 379 423 7.4e-2 SMART
Kelch 473 514 1e1 SMART
Kelch 515 564 2.7e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,727,532 I324F possibly damaging Het
Ago2 G A 15: 73,130,897 A162V possibly damaging Het
Aox4 G T 1: 58,259,052 R1059I probably damaging Het
AU021092 C A 16: 5,212,619 V304L probably damaging Het
Bcs1l T G 1: 74,589,616 F20V probably damaging Het
Braf T C 6: 39,660,867 probably benign Het
Cacna1a T C 8: 84,569,952 C1200R probably damaging Het
Ccdc116 T A 16: 17,141,972 R284S probably benign Het
Cntnap5a T G 1: 116,184,457 probably null Het
Col12a1 A T 9: 79,613,859 probably benign Het
Cpa4 T A 6: 30,581,740 Y229N probably damaging Het
Fbp1 A C 13: 62,875,143 probably null Het
Gimap3 A T 6: 48,765,238 W253R probably benign Het
Gm1330 G A 2: 148,990,473 probably benign Het
Gm4841 A G 18: 60,271,021 probably benign Het
Grip1 A G 10: 119,978,577 T338A probably benign Het
Hmg20b A T 10: 81,346,551 probably benign Het
Hnrnpdl A G 5: 100,037,974 F151L probably damaging Het
Lamc3 T A 2: 31,920,704 F862Y probably benign Het
Lap3 T C 5: 45,504,796 C313R probably damaging Het
Lrp2 T C 2: 69,533,462 T344A possibly damaging Het
Mga A G 2: 119,947,770 E2023G possibly damaging Het
Mical2 A T 7: 112,332,036 K735N probably benign Het
Muc15 A G 2: 110,731,773 T185A probably benign Het
Olfr109 T C 17: 37,466,415 C70R probably damaging Het
Osbp2 T C 11: 3,863,434 K145R probably benign Het
Pde1c T C 6: 56,181,688 T52A probably damaging Het
Pidd1 A G 7: 141,439,163 S802P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prep T A 10: 45,115,186 I316N probably damaging Het
Prl3d2 G A 13: 27,126,031 probably null Het
Pygo1 A T 9: 72,945,037 I169F probably benign Het
Rnf10 G T 5: 115,242,666 A716E probably benign Het
Rtn4 G A 11: 29,706,409 probably null Het
Ryr1 A T 7: 29,078,774 V2099E probably damaging Het
Slc48a1 G A 15: 97,790,080 probably benign Het
Spag17 T A 3: 100,010,794 Y364* probably null Het
Syt3 A T 7: 44,386,062 D31V possibly damaging Het
Tango2 G T 16: 18,307,993 P143H probably benign Het
Tas2r104 A G 6: 131,685,144 S201P probably damaging Het
Tas2r107 G A 6: 131,659,484 L201F probably damaging Het
Vmn1r81 A T 7: 12,260,447 L78Q probably damaging Het
Vmn2r18 T A 5: 151,584,607 T351S probably benign Het
Other mutations in Klhl30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Klhl30 APN 1 91354157 missense possibly damaging 0.79
IGL01485:Klhl30 APN 1 91354039 missense probably damaging 0.98
IGL02698:Klhl30 APN 1 91353707 missense probably damaging 1.00
R0458:Klhl30 UTSW 1 91360996 splice site probably benign
R0578:Klhl30 UTSW 1 91354352 missense probably benign 0.00
R0621:Klhl30 UTSW 1 91357863 missense probably damaging 1.00
R0645:Klhl30 UTSW 1 91355506 missense probably damaging 0.98
R1240:Klhl30 UTSW 1 91361015 missense probably benign 0.00
R1374:Klhl30 UTSW 1 91361076 missense probably damaging 1.00
R2029:Klhl30 UTSW 1 91357914 splice site probably null
R2126:Klhl30 UTSW 1 91358777 splice site probably null
R2152:Klhl30 UTSW 1 91357824 missense probably benign 0.32
R3913:Klhl30 UTSW 1 91359444 missense possibly damaging 0.92
R4031:Klhl30 UTSW 1 91361157 missense probably benign 0.01
R4116:Klhl30 UTSW 1 91354108 missense probably benign 0.20
R4427:Klhl30 UTSW 1 91353704 missense probably damaging 1.00
R4561:Klhl30 UTSW 1 91361031 missense probably damaging 1.00
R4896:Klhl30 UTSW 1 91359324 splice site probably null
R4961:Klhl30 UTSW 1 91357384 missense possibly damaging 0.82
R5004:Klhl30 UTSW 1 91359324 splice site probably null
R5062:Klhl30 UTSW 1 91355578 missense probably benign 0.00
R6298:Klhl30 UTSW 1 91357364 missense probably benign 0.24
R6299:Klhl30 UTSW 1 91357914 splice site probably null
R6393:Klhl30 UTSW 1 91361190 missense probably damaging 1.00
R6962:Klhl30 UTSW 1 91357415 missense probably damaging 0.99
R7461:Klhl30 UTSW 1 91357408 missense possibly damaging 0.90
Posted On2015-04-16