Incidental Mutation 'IGL02538:Klhl1'
ID 297579
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klhl1
Ensembl Gene ENSMUSG00000022076
Gene Name kelch-like 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # IGL02538
Quality Score
Status
Chromosome 14
Chromosomal Location 96342695-96756525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96477649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 473 (N473S)
Ref Sequence ENSEMBL: ENSMUSP00000022666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022666]
AlphaFold Q9JI74
Predicted Effect probably benign
Transcript: ENSMUST00000022666
AA Change: N473S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076
AA Change: N473S

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
low complexity region 74 90 N/A INTRINSIC
low complexity region 107 119 N/A INTRINSIC
BTB 215 312 1.13e-28 SMART
BACK 317 418 5.03e-34 SMART
Kelch 463 509 8.86e-10 SMART
Kelch 510 556 1.04e-15 SMART
Kelch 557 603 6.76e-15 SMART
Kelch 604 650 2.23e-15 SMART
Kelch 651 703 3.09e-9 SMART
Kelch 704 750 3.43e-16 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]
PHENOTYPE: Mice both homozygous and heterozygous for disruption of this gene develop abnormalities in gait and defects in motor coordination with time. Dendritic atrophy of Purkinje cells is also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,136,949 (GRCm39) I171L possibly damaging Het
Amdhd1 C T 10: 93,363,108 (GRCm39) V327I probably damaging Het
Ankrd1 T C 19: 36,092,456 (GRCm39) H257R probably damaging Het
Ano5 G A 7: 51,233,523 (GRCm39) R595H probably damaging Het
Atg2a A G 19: 6,307,658 (GRCm39) T1531A probably benign Het
Bsn A G 9: 107,982,435 (GRCm39) S1001P unknown Het
Btn1a1 T C 13: 23,643,385 (GRCm39) T355A possibly damaging Het
Cd22 G T 7: 30,576,985 (GRCm39) N107K probably benign Het
Ceacam10 A G 7: 24,477,908 (GRCm39) H141R probably damaging Het
Chil3 T C 3: 106,071,445 (GRCm39) D73G probably damaging Het
Cit C T 5: 116,125,048 (GRCm39) Q1536* probably null Het
Dmgdh T A 13: 93,845,261 (GRCm39) I418K possibly damaging Het
Efcab6 T A 15: 83,938,722 (GRCm39) probably benign Het
Eif4g2 T C 7: 110,678,523 (GRCm39) I110V probably benign Het
Fam217a T C 13: 35,095,096 (GRCm39) Y221C probably damaging Het
Fezf1 T A 6: 23,246,557 (GRCm39) K342N probably damaging Het
Git2 A T 5: 114,869,047 (GRCm39) probably benign Het
Gm8126 A T 14: 43,117,047 (GRCm39) R63W probably benign Het
Ica1l T C 1: 60,049,345 (GRCm39) K203E probably benign Het
Iigp1c A T 18: 60,378,944 (GRCm39) K160* probably null Het
Inpp5d A G 1: 87,623,088 (GRCm39) M393V probably null Het
Kbtbd11 A G 8: 15,078,841 (GRCm39) D480G probably damaging Het
Krt1c A G 15: 101,719,589 (GRCm39) S694P unknown Het
Lhfpl6 C T 3: 52,950,732 (GRCm39) A2V probably benign Het
Lipk T A 19: 34,024,279 (GRCm39) L354Q probably damaging Het
Luzp2 T A 7: 54,861,546 (GRCm39) L225* probably null Het
Mknk1 C T 4: 115,717,288 (GRCm39) Q58* probably null Het
Mmut A T 17: 41,249,510 (GRCm39) I162F probably damaging Het
Nol11 T A 11: 107,064,199 (GRCm39) M518L probably benign Het
Nubpl T C 12: 52,357,477 (GRCm39) probably benign Het
Nup35 T A 2: 80,474,563 (GRCm39) S93R possibly damaging Het
Or2t48 T C 11: 58,420,816 (GRCm39) probably benign Het
Or5ak22 T A 2: 85,230,647 (GRCm39) I77F probably damaging Het
Pex3 T C 10: 13,411,344 (GRCm39) E178G possibly damaging Het
Rad23b C A 4: 55,370,457 (GRCm39) P161Q possibly damaging Het
Sipa1l2 A G 8: 126,178,716 (GRCm39) S1128P probably damaging Het
Terb2 T C 2: 122,035,289 (GRCm39) probably benign Het
Trim72 A G 7: 127,603,942 (GRCm39) Y96C probably damaging Het
Tyk2 T C 9: 21,022,339 (GRCm39) D830G possibly damaging Het
Uri1 A G 7: 37,664,916 (GRCm39) S259P probably benign Het
Usp38 A T 8: 81,712,187 (GRCm39) L616H probably damaging Het
Uspl1 T A 5: 149,125,269 (GRCm39) C73S probably damaging Het
Wdr7 C A 18: 63,929,306 (GRCm39) D1047E probably benign Het
Other mutations in Klhl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:Klhl1 APN 14 96,438,640 (GRCm39) splice site probably benign
IGL02055:Klhl1 APN 14 96,517,539 (GRCm39) missense possibly damaging 0.96
IGL02110:Klhl1 APN 14 96,374,039 (GRCm39) missense probably benign 0.27
IGL02216:Klhl1 APN 14 96,360,658 (GRCm39) missense probably benign 0.08
IGL02307:Klhl1 APN 14 96,438,809 (GRCm39) missense possibly damaging 0.68
IGL02559:Klhl1 APN 14 96,389,396 (GRCm39) missense possibly damaging 0.95
IGL02682:Klhl1 APN 14 96,438,778 (GRCm39) missense possibly damaging 0.83
IGL03228:Klhl1 APN 14 96,477,763 (GRCm39) missense probably damaging 1.00
LCD18:Klhl1 UTSW 14 96,555,166 (GRCm39) intron probably benign
P0041:Klhl1 UTSW 14 96,517,647 (GRCm39) missense probably damaging 1.00
R0270:Klhl1 UTSW 14 96,755,780 (GRCm39) start gained probably benign
R0419:Klhl1 UTSW 14 96,619,225 (GRCm39) missense probably benign 0.30
R0938:Klhl1 UTSW 14 96,389,476 (GRCm39) nonsense probably null
R1465:Klhl1 UTSW 14 96,477,649 (GRCm39) missense probably benign 0.03
R1465:Klhl1 UTSW 14 96,477,649 (GRCm39) missense probably benign 0.03
R1590:Klhl1 UTSW 14 96,606,072 (GRCm39) missense probably damaging 1.00
R1597:Klhl1 UTSW 14 96,438,647 (GRCm39) critical splice donor site probably null
R1893:Klhl1 UTSW 14 96,477,642 (GRCm39) critical splice donor site probably null
R1928:Klhl1 UTSW 14 96,584,225 (GRCm39) missense probably benign 0.02
R2272:Klhl1 UTSW 14 96,755,344 (GRCm39) missense probably benign 0.00
R3612:Klhl1 UTSW 14 96,619,206 (GRCm39) critical splice donor site probably null
R3852:Klhl1 UTSW 14 96,517,641 (GRCm39) missense probably benign 0.12
R3872:Klhl1 UTSW 14 96,755,615 (GRCm39) missense probably benign 0.03
R3874:Klhl1 UTSW 14 96,755,615 (GRCm39) missense probably benign 0.03
R3923:Klhl1 UTSW 14 96,584,316 (GRCm39) missense possibly damaging 0.46
R3925:Klhl1 UTSW 14 96,584,316 (GRCm39) missense possibly damaging 0.46
R3926:Klhl1 UTSW 14 96,584,316 (GRCm39) missense possibly damaging 0.46
R4151:Klhl1 UTSW 14 96,755,752 (GRCm39) start codon destroyed probably null 0.73
R4502:Klhl1 UTSW 14 96,755,282 (GRCm39) missense probably benign
R4536:Klhl1 UTSW 14 96,374,019 (GRCm39) critical splice donor site probably null
R4729:Klhl1 UTSW 14 96,517,584 (GRCm39) missense probably damaging 1.00
R4756:Klhl1 UTSW 14 96,389,402 (GRCm39) missense probably benign 0.39
R5001:Klhl1 UTSW 14 96,374,046 (GRCm39) missense probably damaging 0.96
R5022:Klhl1 UTSW 14 96,374,142 (GRCm39) missense probably benign 0.31
R5616:Klhl1 UTSW 14 96,755,729 (GRCm39) missense probably benign 0.44
R5634:Klhl1 UTSW 14 96,477,707 (GRCm39) missense probably damaging 0.96
R5700:Klhl1 UTSW 14 96,755,476 (GRCm39) missense probably benign
R5701:Klhl1 UTSW 14 96,438,816 (GRCm39) missense probably benign
R5934:Klhl1 UTSW 14 96,360,651 (GRCm39) critical splice donor site probably null
R5950:Klhl1 UTSW 14 96,477,790 (GRCm39) missense probably damaging 0.99
R6454:Klhl1 UTSW 14 96,517,527 (GRCm39) missense possibly damaging 0.66
R6496:Klhl1 UTSW 14 96,477,652 (GRCm39) missense probably benign 0.03
R6606:Klhl1 UTSW 14 96,360,658 (GRCm39) missense possibly damaging 0.52
R6644:Klhl1 UTSW 14 96,755,354 (GRCm39) missense probably benign
R6745:Klhl1 UTSW 14 96,517,438 (GRCm39) critical splice donor site probably null
R6919:Klhl1 UTSW 14 96,374,030 (GRCm39) missense probably benign 0.00
R7029:Klhl1 UTSW 14 96,755,632 (GRCm39) missense probably benign 0.01
R7195:Klhl1 UTSW 14 96,517,513 (GRCm39) missense probably benign 0.08
R7467:Klhl1 UTSW 14 96,360,713 (GRCm39) missense probably damaging 1.00
R7483:Klhl1 UTSW 14 96,584,304 (GRCm39) missense probably benign 0.09
R7650:Klhl1 UTSW 14 96,584,379 (GRCm39) missense probably damaging 0.96
R7817:Klhl1 UTSW 14 96,374,186 (GRCm39) missense possibly damaging 0.91
R8221:Klhl1 UTSW 14 96,517,546 (GRCm39) missense possibly damaging 0.69
R8444:Klhl1 UTSW 14 96,755,326 (GRCm39) missense probably benign
R8483:Klhl1 UTSW 14 96,619,370 (GRCm39) missense probably benign
R9100:Klhl1 UTSW 14 96,584,364 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16