Incidental Mutation 'R0938:Klhl1'
ID 81261
Institutional Source Beutler Lab
Gene Symbol Klhl1
Ensembl Gene ENSMUSG00000022076
Gene Name kelch-like 1
Synonyms
MMRRC Submission 039077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R0938 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 96342695-96756525 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 96389476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 559 (Y559*)
Ref Sequence ENSEMBL: ENSMUSP00000022666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022666]
AlphaFold Q9JI74
Predicted Effect probably null
Transcript: ENSMUST00000022666
AA Change: Y559*
SMART Domains Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076
AA Change: Y559*

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
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 95.7%
  • 20x: 88.1%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcan A G 3: 87,900,461 (GRCm39) S591P possibly damaging Het
Chfr T C 5: 110,311,924 (GRCm39) L579P probably damaging Het
Dab2 C T 15: 6,464,865 (GRCm39) T439I probably benign Het
Dazap1 T C 10: 80,116,795 (GRCm39) S165P possibly damaging Het
Dlx2 C A 2: 71,375,012 (GRCm39) W284L possibly damaging Het
Dync2h1 A T 9: 7,002,658 (GRCm39) N3803K probably benign Het
Dynlrb2 A C 8: 117,241,707 (GRCm39) probably null Het
Fhl2 A G 1: 43,180,866 (GRCm39) I108T possibly damaging Het
Fntb A G 12: 76,963,214 (GRCm39) Y399C probably damaging Het
Galnt18 T C 7: 111,119,206 (GRCm39) I438M possibly damaging Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Ifi204 A T 1: 173,579,311 (GRCm39) N511K possibly damaging Het
Mob1b T A 5: 88,897,452 (GRCm39) I120N probably damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Oosp2 G A 19: 11,628,904 (GRCm39) Q66* probably null Het
P4ha2 A G 11: 54,010,148 (GRCm39) K302E possibly damaging Het
Pard6g C T 18: 80,123,259 (GRCm39) R98* probably null Het
Pkdrej G A 15: 85,702,364 (GRCm39) P1191S probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Smim29 T C 17: 27,783,368 (GRCm39) K43R possibly damaging Het
Ubap2 A C 4: 41,202,304 (GRCm39) L708R probably damaging Het
Zfp638 G A 6: 83,961,023 (GRCm39) V1204I probably benign Het
Zfp865 G T 7: 5,034,403 (GRCm39) C796F possibly damaging Het
Zmiz2 A T 11: 6,347,185 (GRCm39) M237L 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
IGL02538:Klhl1 APN 14 96,477,649 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- TGAGCTGAGCTAAGCTAAGCTAAGCTAA -3'
(R):5'- TCATATGCTATGAAAGCCCTGGTTTGTT -3'

Sequencing Primer
(F):5'- TTTAAGCTTTGATAGGAAGGCAGC -3'
(R):5'- agaaagaaaggaaagagagggg -3'
Posted On 2013-11-07