Incidental Mutation 'R0130:Klhl23'
ID50097
Institutional Source Beutler Lab
Gene Symbol Klhl23
Ensembl Gene ENSMUSG00000042155
Gene Namekelch-like 23
Synonyms
MMRRC Submission 038415-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #R0130 (G1)
Quality Score225
Status Validated (trace)
Chromosome2
Chromosomal Location69821944-69836651 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69833966 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 553 (V553A)
Ref Sequence ENSEMBL: ENSMUSP00000050219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053087]
Predicted Effect probably damaging
Transcript: ENSMUST00000053087
AA Change: V553A

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050219
Gene: ENSMUSG00000042155
AA Change: V553A

DomainStartEndE-ValueType
BTB 36 134 8.34e-27 SMART
BACK 139 240 8.51e-23 SMART
Kelch 274 319 5.19e0 SMART
Kelch 321 369 5.85e-10 SMART
Kelch 370 416 7.78e-6 SMART
Kelch 417 466 2.11e-1 SMART
Kelch 467 508 3.8e-9 SMART
Kelch 509 557 2.25e-11 SMART
Meta Mutation Damage Score 0.4810 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.7%
  • 10x: 93.4%
  • 20x: 80.2%
Validation Efficiency 99% (84/85)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A T 17: 84,686,666 Y37F probably damaging Het
Ablim2 G A 5: 35,809,176 probably benign Het
Anxa9 A G 3: 95,302,422 S129P probably benign Het
Apol7c A G 15: 77,526,362 I128T possibly damaging Het
Arfgef2 T G 2: 166,835,719 I88S probably damaging Het
Arfip2 A G 7: 105,638,998 probably benign Het
Atp5j2 A T 5: 145,188,182 probably benign Het
Atp7b C T 8: 22,028,172 E205K possibly damaging Het
Atp8b5 T A 4: 43,369,715 probably null Het
Cd22 A G 7: 30,869,964 Y402H possibly damaging Het
Cd248 A G 19: 5,069,962 T613A probably benign Het
Cdcp2 C T 4: 107,106,707 probably benign Het
Cenpc1 A T 5: 86,046,546 D120E probably benign Het
Chd3 T A 11: 69,359,830 H691L probably damaging Het
Colec12 C T 18: 9,858,921 P568L unknown Het
Cped1 T A 6: 22,121,039 Y373N probably benign Het
Cr2 A T 1: 195,166,231 V328D probably damaging Het
Ctnnd2 A T 15: 30,921,913 E895V probably damaging Het
D630045J12Rik A T 6: 38,149,771 probably benign Het
Dcdc2a A T 13: 25,187,672 probably benign Het
Dync1h1 C A 12: 110,618,674 T837K probably benign Het
Eif2ak3 C A 6: 70,881,732 probably benign Het
Epb41l5 A C 1: 119,549,902 V705G possibly damaging Het
Fat2 T A 11: 55,252,118 M4302L probably benign Het
Flnb T C 14: 7,901,951 V938A probably damaging Het
Frmd4a T C 2: 4,604,092 Y928H probably damaging Het
Fyn C T 10: 39,511,982 T78M probably benign Het
Gdap2 A G 3: 100,201,995 T443A probably damaging Het
Gde1 A T 7: 118,695,060 F63L probably benign Het
Gjc3 A G 5: 137,957,940 S28P probably benign Het
Gm10250 G A 15: 5,120,991 probably null Het
Gm1141 T C X: 71,939,555 C378R possibly damaging Het
Hp1bp3 C T 4: 138,237,209 S348F probably damaging Het
Lman2l G T 1: 36,424,864 S171* probably null Het
Lrp1b T C 2: 41,511,508 D378G probably damaging Het
Map3k11 T C 19: 5,690,815 L190P probably damaging Het
Mki67 T A 7: 135,696,459 Q2282L probably damaging Het
Mthfd2 T A 6: 83,309,008 I272F probably damaging Het
Myom1 A T 17: 71,045,755 D358V probably damaging Het
Nebl T A 2: 17,393,023 Q487H possibly damaging Het
Nebl T C 2: 17,390,926 probably benign Het
Nlrp2 T A 7: 5,322,418 N14Y possibly damaging Het
Olfr1090 T C 2: 86,753,887 M284V probably benign Het
Olfr304 T C 7: 86,386,306 Y118C probably damaging Het
Olfr339 T A 2: 36,422,287 D296E probably benign Het
Olfr372 C T 8: 72,058,400 T240M probably damaging Het
Olfr992 T A 2: 85,399,961 S191C probably damaging Het
Paxip1 C T 5: 27,744,185 probably benign Het
Pclo A G 5: 14,679,797 probably benign Het
Pld2 T G 11: 70,554,348 N591K probably benign Het
Plekha7 A G 7: 116,170,704 M276T probably damaging Het
Prss39 T A 1: 34,502,200 probably benign Het
Prtg A G 9: 72,809,716 Y113C probably damaging Het
Rab38 T A 7: 88,450,541 I88N probably damaging Het
Rbfox2 A G 15: 77,091,857 probably benign Het
Samd5 A G 10: 9,674,939 W9R probably damaging Het
Sec14l1 A T 11: 117,156,407 K637I possibly damaging Het
Sh2b1 A T 7: 126,471,448 D360E possibly damaging Het
Sh3bp4 A G 1: 89,145,314 N628S possibly damaging Het
Sim1 A T 10: 50,907,961 I104F probably damaging Het
Smcp T A 3: 92,584,520 T7S unknown Het
Sp4 A G 12: 118,300,816 probably benign Het
Tectb G T 19: 55,181,961 K81N probably damaging Het
Thbs4 G T 13: 92,754,410 H850N probably benign Het
Tiam1 T C 16: 89,897,754 M272V probably benign Het
Trav13-3 T A 14: 53,729,776 noncoding transcript Het
Ubap2l A T 3: 90,021,373 S478T possibly damaging Het
Vmn2r85 A G 10: 130,419,185 probably benign Het
Other mutations in Klhl23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02582:Klhl23 APN 2 69824238 missense probably damaging 1.00
IGL02637:Klhl23 APN 2 69828914 nonsense probably null
R0128:Klhl23 UTSW 2 69833966 missense probably damaging 0.97
R0333:Klhl23 UTSW 2 69833897 missense probably damaging 1.00
R0538:Klhl23 UTSW 2 69824413 missense probably benign 0.01
R1466:Klhl23 UTSW 2 69833888 missense probably damaging 1.00
R1466:Klhl23 UTSW 2 69833888 missense probably damaging 1.00
R1584:Klhl23 UTSW 2 69833888 missense probably damaging 1.00
R1970:Klhl23 UTSW 2 69833686 missense probably damaging 1.00
R2102:Klhl23 UTSW 2 69828884 missense probably damaging 1.00
R4236:Klhl23 UTSW 2 69824172 missense probably damaging 0.98
R4473:Klhl23 UTSW 2 69823807 missense possibly damaging 0.67
R5446:Klhl23 UTSW 2 69824238 missense probably damaging 1.00
R5852:Klhl23 UTSW 2 69824269 missense probably benign 0.44
R6143:Klhl23 UTSW 2 69833696 missense possibly damaging 0.65
R6151:Klhl23 UTSW 2 69824854 missense probably damaging 0.99
R6277:Klhl23 UTSW 2 69833752 missense probably damaging 1.00
R7030:Klhl23 UTSW 2 69833966 missense probably damaging 1.00
R7303:Klhl23 UTSW 2 69824701 missense probably benign 0.42
R7724:Klhl23 UTSW 2 69824712 missense probably benign 0.00
R8330:Klhl23 UTSW 2 69824152 missense probably damaging 0.98
R8913:Klhl23 UTSW 2 69833890 missense probably damaging 1.00
X0066:Klhl23 UTSW 2 69823788 start codon destroyed possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- CTATGACCCGGAACAGAACGAGTG -3'
(R):5'- TTCAGATCCCTGCCAGCTAGAGAC -3'

Sequencing Primer
(F):5'- CGCCTATGATGGAAAGGAGGATG -3'
(R):5'- atctgcctgcctctgcc -3'
Posted On2013-06-12