Incidental Mutation 'BB016:Klhl30'
ID 642873
Institutional Source Beutler Lab
Gene Symbol Klhl30
Ensembl Gene ENSMUSG00000026308
Gene Name kelch-like 30
Synonyms 4631423F02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # BB016
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 91278795-91290126 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91283238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 280 (E280V)
Ref Sequence ENSEMBL: ENSMUSP00000027533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027533]
AlphaFold Q8C3F7
Predicted Effect possibly damaging
Transcript: ENSMUST00000027533
AA Change: E280V

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027533
Gene: ENSMUSG00000026308
AA Change: E280V

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 37,289,412 (GRCm39) I105F possibly damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Adra1d G T 2: 131,403,600 (GRCm39) C163* probably null Het
Ak9 A G 10: 41,259,944 (GRCm39) D874G Het
Akap8 A T 17: 32,528,419 (GRCm39) S498T probably damaging Het
Alyref2 C G 1: 171,331,407 (GRCm39) F61L probably benign Het
Ank1 A T 8: 23,606,123 (GRCm39) I1172F probably damaging Het
Ankrd50 A T 3: 38,511,258 (GRCm39) F370I probably damaging Het
Apip A C 2: 102,913,366 (GRCm39) T41P probably benign Het
Atg4d G A 9: 21,178,260 (GRCm39) R126Q probably null Het
Ccdc86 A G 19: 10,926,183 (GRCm39) S139P unknown Het
Ceacam16 A G 7: 19,587,556 (GRCm39) L404P probably damaging Het
Dennd3 G T 15: 73,436,423 (GRCm39) V1010L probably damaging Het
Disp1 A G 1: 182,917,103 (GRCm39) S108P probably benign Het
Ecpas A G 4: 58,869,554 (GRCm39) C238R probably damaging Het
Ephb2 A G 4: 136,388,195 (GRCm39) V635A probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gars1 A G 6: 55,040,102 (GRCm39) H343R probably damaging Het
Gli2 A T 1: 118,769,772 (GRCm39) N593K possibly damaging Het
Il18rap T A 1: 40,570,740 (GRCm39) N227K probably damaging Het
Il4ra T C 7: 125,174,348 (GRCm39) S297P probably benign Het
Itprid1 G A 6: 55,874,946 (GRCm39) V299M probably damaging Het
Jak1 A T 4: 101,011,842 (GRCm39) F1087I probably damaging Het
Klf16 A G 10: 80,412,698 (GRCm39) S113P probably benign Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lama4 A G 10: 38,954,843 (GRCm39) H1132R probably damaging Het
Lmtk3 A G 7: 45,444,572 (GRCm39) D1085G unknown Het
Lrrc9 C A 12: 72,533,071 (GRCm39) T980K possibly damaging Het
Nceh1 A G 3: 27,333,396 (GRCm39) D164G probably benign Het
Nlrp2 A G 7: 5,330,498 (GRCm39) S633P probably damaging Het
Nxn A G 11: 76,164,863 (GRCm39) V216A possibly damaging Het
Odf4 A T 11: 68,813,759 (GRCm39) V143D possibly damaging Het
Or4d6 G A 19: 12,086,118 (GRCm39) T38I unknown Het
Pex12 A G 11: 83,188,809 (GRCm39) I62T probably damaging Het
Plekhg1 G A 10: 3,869,170 (GRCm39) D237N probably damaging Het
Rxrb T A 17: 34,255,645 (GRCm39) D377E probably benign Het
Ryr2 T A 13: 11,609,680 (GRCm39) D4382V probably damaging Het
Ryr2 T A 13: 11,705,181 (GRCm39) K2862* probably null Het
Ryr3 A G 2: 112,664,533 (GRCm39) L1606P probably benign Het
Samd3 A G 10: 26,127,813 (GRCm39) K270R probably damaging Het
Slc2a5 C A 4: 150,223,942 (GRCm39) F211L probably benign Het
Spata31 T A 13: 65,069,532 (GRCm39) V560D probably benign Het
Tbk1 A G 10: 121,393,138 (GRCm39) C471R probably benign Het
Tbx20 A T 9: 24,637,059 (GRCm39) S343T possibly damaging Het
Tesk2 A G 4: 116,659,452 (GRCm39) E304G probably benign Het
Tle1 A G 4: 72,118,239 (GRCm39) F2L possibly damaging Het
Tle4 G T 19: 14,495,244 (GRCm39) P162T probably benign Het
Ttn G A 2: 76,673,816 (GRCm39) P11172S unknown Het
Tulp1 T C 17: 28,572,746 (GRCm39) N470S possibly damaging Het
Unc13b A G 4: 43,174,399 (GRCm39) I1742M unknown Het
Vmn2r107 T G 17: 20,565,706 (GRCm39) I7S probably null Het
Vmn2r91 T G 17: 18,327,906 (GRCm39) I500R probably damaging Het
Xpnpep3 A G 15: 81,311,626 (GRCm39) I111V probably damaging Het
Zp3r T A 1: 130,519,217 (GRCm39) E308V probably benign 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
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
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'- GCACAGGTACTCACAGATGC -3'
(R):5'- GCTCCTCTGCAATTCTGGTAAG -3'

Sequencing Primer
(F):5'- GGTACTCACAGATGCATACACACATG -3'
(R):5'- CTGCAATTCTGGTAAGATCCAAAAC -3'
Posted On 2020-08-01