Incidental Mutation 'R4561:Klhl30'
ID 343076
Institutional Source Beutler Lab
Gene Symbol Klhl30
Ensembl Gene ENSMUSG00000026308
Gene Name kelch-like 30
Synonyms 4631423F02Rik
MMRRC Submission 041786-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4561 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 91278795-91290126 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91288753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 504 (H504L)
Ref Sequence ENSEMBL: ENSMUSP00000027533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027533]
AlphaFold Q8C3F7
Predicted Effect probably damaging
Transcript: ENSMUST00000027533
AA Change: H504L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027533
Gene: ENSMUSG00000026308
AA Change: H504L

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 T C 10: 69,837,848 (GRCm39) S1601P probably damaging Het
Arnt A G 3: 95,359,924 (GRCm39) N56D probably damaging Het
Atad5 A G 11: 79,986,715 (GRCm39) T601A probably benign Het
Calr4 A G 4: 109,103,379 (GRCm39) N163S probably damaging Het
Cenpc1 C A 5: 86,195,491 (GRCm39) A93S probably damaging Het
Cep135 C T 5: 76,786,040 (GRCm39) H1048Y possibly damaging Het
Ctnna2 A G 6: 77,613,696 (GRCm39) probably null Het
Ddx60 T C 8: 62,395,495 (GRCm39) L144P probably damaging Het
Dera A T 6: 137,757,736 (GRCm39) T96S possibly damaging Het
Dock9 T A 14: 121,796,419 (GRCm39) M1853L probably benign Het
Erbb4 G A 1: 68,383,080 (GRCm39) R306* probably null Het
Glyat G T 19: 12,628,644 (GRCm39) L146F possibly damaging Het
Grk4 C A 5: 34,852,157 (GRCm39) Q134K probably benign Het
Hkdc1 T C 10: 62,245,618 (GRCm39) Q181R probably benign Het
Huwe1 A T X: 150,646,955 (GRCm39) I682F probably damaging Het
Ipo4 C T 14: 55,867,546 (GRCm39) probably benign Het
Ivl CCTGCTGCTGCT CCTGCTGCTGCTGCT 3: 92,479,262 (GRCm39) probably benign Het
Kcnd2 A G 6: 21,216,395 (GRCm39) Q33R probably benign Het
Kdm7a C T 6: 39,129,757 (GRCm39) R473Q probably damaging Het
Map4 A G 9: 109,881,439 (GRCm39) Y101C possibly damaging Het
Mfn2 C A 4: 147,961,492 (GRCm39) R707L probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myof T C 19: 37,911,438 (GRCm39) N1511D probably benign Het
Neb A T 2: 52,176,167 (GRCm39) Y1431N probably damaging Het
Nlrc5 A G 8: 95,203,774 (GRCm39) T625A probably damaging Het
Or5g27 G T 2: 85,409,964 (GRCm39) C127F probably damaging Het
Pax2 A G 19: 44,824,402 (GRCm39) Y374C unknown Het
Pde8a T A 7: 80,958,568 (GRCm39) Y315* probably null Het
Pkhd1 A T 1: 20,604,943 (GRCm39) L1124Q possibly damaging Het
Ppp1r3a A G 6: 14,754,681 (GRCm39) F189L probably damaging Het
Prex2 G A 1: 11,254,769 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Slc22a22 T A 15: 57,126,781 (GRCm39) Q77L probably damaging Het
Slc24a2 A T 4: 87,145,634 (GRCm39) V140D probably damaging Het
Slc35g2 C A 9: 100,435,287 (GRCm39) R128L probably damaging Het
Slco1b2 A G 6: 141,616,893 (GRCm39) T409A probably benign Het
Spag7 T C 11: 70,555,816 (GRCm39) I80M probably damaging Het
Srgap3 A G 6: 112,758,015 (GRCm39) M164T probably damaging Het
Sspo A T 6: 48,452,468 (GRCm39) probably null Het
Tcte2 T C 17: 13,942,864 (GRCm39) probably benign Het
Tmem117 A T 15: 94,992,677 (GRCm39) M446L probably benign Het
Tmtc4 T C 14: 123,200,710 (GRCm39) T194A probably benign Het
Ttc21b T C 2: 66,016,562 (GRCm39) Y1269C probably damaging Het
Zfp236 A T 18: 82,638,531 (GRCm39) I1363N probably damaging Het
Zfp760 T A 17: 21,942,648 (GRCm39) S608T probably benign Het
Zfp947 G T 17: 22,365,124 (GRCm39) Y183* probably null 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
R3913:Klhl30 UTSW 1 91,287,166 (GRCm39) missense possibly damaging 0.92
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
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'- CAGTGAGCAGTGATGAGCTTTG -3'
(R):5'- AAGATGGTAGAGGCCCCATG -3'

Sequencing Primer
(F):5'- GCCCCACCAAGTGTTGTGATTATG -3'
(R):5'- TGGTACAGCCAGAGACGG -3'
Posted On 2015-09-24