Incidental Mutation 'R3913:Klhl30'
ID 309487
Institutional Source Beutler Lab
Gene Symbol Klhl30
Ensembl Gene ENSMUSG00000026308
Gene Name kelch-like 30
Synonyms 4631423F02Rik
MMRRC Submission 040911-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3913 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 91278795-91290126 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91287166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 484 (V484A)
Ref Sequence ENSEMBL: ENSMUSP00000027533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027533]
AlphaFold Q8C3F7
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 0.4451 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
Adh7 T A 3: 137,927,541 (GRCm39) V29E probably damaging Het
Adra1d T A 2: 131,404,075 (GRCm39) D5V probably damaging Het
Arid1b A G 17: 5,392,532 (GRCm39) I2021V possibly damaging Het
Birc6 A T 17: 74,880,608 (GRCm39) R462* probably null Het
Cchcr1 T C 17: 35,836,233 (GRCm39) V341A probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Crybg1 T C 10: 43,874,759 (GRCm39) D783G possibly damaging Het
Dcaf15 T C 8: 84,825,794 (GRCm39) Y271C probably damaging Het
Dcun1d2 A C 8: 13,331,082 (GRCm39) M16R probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnttip2 T C 3: 122,069,040 (GRCm39) V85A possibly damaging Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Exoc7 T C 11: 116,197,731 (GRCm39) D27G probably benign Het
Gdpd5 A G 7: 99,087,546 (GRCm39) D70G probably null Het
Glyr1 A G 16: 4,849,777 (GRCm39) F199L probably damaging Het
Golga4 T A 9: 118,368,039 (GRCm39) M414K probably damaging Het
Gpr132 C A 12: 112,816,640 (GRCm39) W62L probably benign Het
Gpr179 A T 11: 97,225,591 (GRCm39) V2188E probably benign Het
Ilf3 C T 9: 21,309,422 (GRCm39) A526V possibly damaging Het
Ints10 T A 8: 69,266,272 (GRCm39) S478T probably damaging Het
Kcnab2 A G 4: 152,479,689 (GRCm39) V187A probably damaging Het
Kcnj15 C T 16: 95,097,329 (GRCm39) T317I probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt90 G A 15: 101,471,218 (GRCm39) R15W probably damaging Het
Liph G T 16: 21,781,009 (GRCm39) probably benign Het
Lrrc7 G A 3: 157,997,589 (GRCm39) L158F probably damaging Het
Maml1 T C 11: 50,154,259 (GRCm39) T602A probably benign Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mei4 A G 9: 81,772,316 (GRCm39) K43R probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mst1r G A 9: 107,791,945 (GRCm39) R827Q probably benign Het
Olfm1 A G 2: 28,098,186 (GRCm39) T83A possibly damaging Het
Or1e30 G T 11: 73,678,522 (GRCm39) G253W probably damaging Het
Or5m10b T C 2: 85,699,115 (GRCm39) Y60H probably damaging Het
Parp4 A G 14: 56,857,975 (GRCm39) E869G probably damaging Het
Pate4 C A 9: 35,523,140 (GRCm39) M1I probably null Het
Patj A G 4: 98,457,338 (GRCm39) D1280G probably damaging Het
Ppargc1b T C 18: 61,444,447 (GRCm39) S255G probably damaging Het
Rev3l A G 10: 39,696,552 (GRCm39) I521M probably damaging Het
Rlim T C X: 103,006,267 (GRCm39) T545A probably benign Het
Robo2 A T 16: 73,831,893 (GRCm39) D262E probably damaging Het
Sec14l5 A G 16: 4,965,720 (GRCm39) probably benign Het
Sema4b A G 7: 79,870,222 (GRCm39) S467G probably benign Het
Setd2 C T 9: 110,380,114 (GRCm39) R1310C probably damaging Het
Sh3d19 T C 3: 85,992,083 (GRCm39) I37T probably damaging Het
Slc23a3 T A 1: 75,105,566 (GRCm39) I422F probably benign Het
Snap91 T C 9: 86,674,610 (GRCm39) T534A possibly damaging Het
Son A T 16: 91,456,999 (GRCm39) probably benign Het
Tnks A T 8: 35,340,228 (GRCm39) S463R probably damaging Het
Tubb3 A G 8: 124,147,748 (GRCm39) H227R possibly damaging Het
Tyw1 T A 5: 130,287,876 (GRCm39) V36D probably damaging Het
Vwa5a T C 9: 38,646,039 (GRCm39) I469T probably damaging Het
Zdhhc8 A G 16: 18,044,587 (GRCm39) L311P possibly damaging Het
Other mutations in Klhl30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Klhl30 APN 1 91,281,879 (GRCm39) missense possibly damaging 0.79
IGL01485:Klhl30 APN 1 91,281,761 (GRCm39) missense probably damaging 0.98
IGL02698:Klhl30 APN 1 91,281,429 (GRCm39) missense probably damaging 1.00
IGL02751:Klhl30 APN 1 91,281,821 (GRCm39) missense probably damaging 1.00
BB006:Klhl30 UTSW 1 91,283,238 (GRCm39) missense possibly damaging 0.67
BB016:Klhl30 UTSW 1 91,283,238 (GRCm39) missense possibly damaging 0.67
R0458:Klhl30 UTSW 1 91,288,718 (GRCm39) splice site probably benign
R0578:Klhl30 UTSW 1 91,282,074 (GRCm39) missense probably benign 0.00
R0621:Klhl30 UTSW 1 91,285,585 (GRCm39) missense probably damaging 1.00
R0645:Klhl30 UTSW 1 91,283,228 (GRCm39) missense probably damaging 0.98
R1240:Klhl30 UTSW 1 91,288,737 (GRCm39) missense probably benign 0.00
R1374:Klhl30 UTSW 1 91,288,798 (GRCm39) missense probably damaging 1.00
R2029:Klhl30 UTSW 1 91,285,636 (GRCm39) splice site probably null
R2126:Klhl30 UTSW 1 91,286,499 (GRCm39) splice site probably null
R2152:Klhl30 UTSW 1 91,285,546 (GRCm39) missense probably benign 0.32
R4031:Klhl30 UTSW 1 91,288,879 (GRCm39) missense probably benign 0.01
R4116:Klhl30 UTSW 1 91,281,830 (GRCm39) missense probably benign 0.20
R4427:Klhl30 UTSW 1 91,281,426 (GRCm39) missense probably damaging 1.00
R4561:Klhl30 UTSW 1 91,288,753 (GRCm39) missense probably damaging 1.00
R4896:Klhl30 UTSW 1 91,287,046 (GRCm39) splice site probably null
R4961:Klhl30 UTSW 1 91,285,106 (GRCm39) missense possibly damaging 0.82
R5004:Klhl30 UTSW 1 91,287,046 (GRCm39) splice site probably null
R5062:Klhl30 UTSW 1 91,283,300 (GRCm39) missense probably benign 0.00
R6298:Klhl30 UTSW 1 91,285,086 (GRCm39) missense probably benign 0.24
R6299:Klhl30 UTSW 1 91,285,636 (GRCm39) splice site probably null
R6393:Klhl30 UTSW 1 91,288,912 (GRCm39) missense probably damaging 1.00
R6962:Klhl30 UTSW 1 91,285,137 (GRCm39) missense probably damaging 0.99
R7461:Klhl30 UTSW 1 91,285,130 (GRCm39) missense possibly damaging 0.90
R7849:Klhl30 UTSW 1 91,287,059 (GRCm39) missense probably benign 0.00
R7929:Klhl30 UTSW 1 91,283,238 (GRCm39) missense possibly damaging 0.67
R8378:Klhl30 UTSW 1 91,285,494 (GRCm39) nonsense probably null
R8944:Klhl30 UTSW 1 91,287,174 (GRCm39) missense probably damaging 1.00
R9790:Klhl30 UTSW 1 91,282,089 (GRCm39) missense probably benign 0.23
R9791:Klhl30 UTSW 1 91,282,089 (GRCm39) missense probably benign 0.23
Z1176:Klhl30 UTSW 1 91,287,187 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GGCTTAATCCATTGGCAGAGTG -3'
(R):5'- ACACAGTGGCTGCTCTATAGTC -3'

Sequencing Primer
(F):5'- GCTGTGTTTCTGGAAGCTTC -3'
(R):5'- TCTATAGTCTAGAGAGAGCCTGAAG -3'
Posted On 2015-04-17