Incidental Mutation 'R3913:Klhl30'
ID309487
Institutional Source Beutler Lab
Gene Symbol Klhl30
Ensembl Gene ENSMUSG00000026308
Gene Namekelch-like 30
Synonyms4631423F02Rik
MMRRC Submission 040911-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3913 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location91351016-91362416 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91359444 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 484 (V484A)
Ref Sequence ENSEMBL: ENSMUSP00000027533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027533]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027533
AA Change: V484A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027533
Gene: ENSMUSG00000026308
AA Change: V484A

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
Meta Mutation Damage Score 0.106 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001C19Rik AC A 17: 47,433,423 probably benign Het
Adh7 T A 3: 138,221,780 V29E probably damaging Het
Adra1d T A 2: 131,562,155 D5V probably damaging Het
Arid1b A G 17: 5,342,257 I2021V possibly damaging Het
Birc6 A T 17: 74,573,613 R462* probably null Het
Cchcr1 T C 17: 35,525,336 V341A probably damaging Het
Crybg1 T C 10: 43,998,763 D783G possibly damaging Het
Dcaf15 T C 8: 84,099,165 Y271C probably damaging Het
Dcun1d2 A C 8: 13,281,082 M16R probably damaging Het
Dnah17 C T 11: 118,080,849 probably benign Het
Dnttip2 T C 3: 122,275,391 V85A possibly damaging Het
Eprs G A 1: 185,379,742 probably null Het
Exoc7 T C 11: 116,306,905 D27G probably benign Het
Gdpd5 A G 7: 99,438,339 D70G probably null Het
Glyr1 A G 16: 5,031,913 F199L probably damaging Het
Golga4 T A 9: 118,538,971 M414K probably damaging Het
Gpr132 C A 12: 112,853,020 W62L probably benign Het
Gpr179 A T 11: 97,334,765 V2188E probably benign Het
Ilf3 C T 9: 21,398,126 A526V possibly damaging Het
Ints10 T A 8: 68,813,620 S478T probably damaging Het
Kcnab2 A G 4: 152,395,232 V187A probably damaging Het
Kcnj15 C T 16: 95,296,470 T317I probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Krt90 G A 15: 101,562,783 R15W probably damaging Het
Liph G T 16: 21,962,259 probably benign Het
Lrrc7 G A 3: 158,291,952 L158F probably damaging Het
Maml1 T C 11: 50,263,432 T602A probably benign Het
Mast4 A G 13: 102,758,669 L782P probably damaging Het
Mei4 A G 9: 81,890,263 K43R probably benign Het
Mettl4 A G 17: 94,740,532 V227A probably benign Het
Mst1r G A 9: 107,914,746 R827Q probably benign Het
Olfm1 A G 2: 28,208,174 T83A possibly damaging Het
Olfr1022 T C 2: 85,868,771 Y60H probably damaging Het
Olfr390 G T 11: 73,787,696 G253W probably damaging Het
Parp4 A G 14: 56,620,518 E869G probably damaging Het
Pate4 C A 9: 35,611,844 M1I probably null Het
Patj A G 4: 98,569,101 D1280G probably damaging Het
Ppargc1b T C 18: 61,311,376 S255G probably damaging Het
Rev3l A G 10: 39,820,556 I521M probably damaging Het
Rlim T C X: 103,962,661 T545A probably benign Het
Robo2 A T 16: 74,035,005 D262E probably damaging Het
Sec14l5 A G 16: 5,147,856 probably benign Het
Sema4b A G 7: 80,220,474 S467G probably benign Het
Setd2 C T 9: 110,551,046 R1310C probably damaging Het
Sh3d19 T C 3: 86,084,776 I37T probably damaging Het
Slc23a3 T A 1: 75,128,922 I422F probably benign Het
Snap91 T C 9: 86,792,557 T534A possibly damaging Het
Son A T 16: 91,660,111 probably benign Het
Tnks A T 8: 34,873,074 S463R probably damaging Het
Tubb3 A G 8: 123,421,009 H227R possibly damaging Het
Tyw1 T A 5: 130,259,035 V36D probably damaging Het
Vwa5a T C 9: 38,734,743 I469T probably damaging Het
Zdhhc8 A G 16: 18,226,723 L311P possibly damaging 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
IGL02751:Klhl30 APN 1 91354099 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
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
Predicted Primers PCR Primer
(F):5'- GGCTTAATCCATTGGCAGAGTG -3'
(R):5'- ACACAGTGGCTGCTCTATAGTC -3'

Sequencing Primer
(F):5'- GCTGTGTTTCTGGAAGCTTC -3'
(R):5'- TCTATAGTCTAGAGAGAGCCTGAAG -3'
Posted On2015-04-17