Incidental Mutation 'R5950:Klhl1'
ID 472409
Institutional Source Beutler Lab
Gene Symbol Klhl1
Ensembl Gene ENSMUSG00000022076
Gene Name kelch-like 1
Synonyms
MMRRC Submission 044140-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R5950 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 96342695-96756525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96477790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 426 (D426V)
Ref Sequence ENSEMBL: ENSMUSP00000022666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022666]
AlphaFold Q9JI74
Predicted Effect probably damaging
Transcript: ENSMUST00000022666
AA Change: D426V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076
AA Change: D426V

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
Meta Mutation Damage Score 0.1820 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 93% (75/81)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G A 7: 119,981,879 (GRCm39) G1065R probably damaging Het
Acox2 A T 14: 8,255,793 (GRCm38) Y113N probably benign Het
Arid4b T A 13: 14,365,849 (GRCm39) probably benign Het
Atf6 C T 1: 170,662,448 (GRCm39) G271R probably damaging Het
Bnip5 T A 17: 29,124,729 (GRCm39) Q256L possibly damaging Het
Cct8l1 C A 5: 25,722,741 (GRCm39) F485L probably benign Het
Cdk5r2 A G 1: 74,894,561 (GRCm39) E102G probably damaging Het
Celsr1 A T 15: 85,916,701 (GRCm39) V424E probably damaging Het
Ces1h T C 8: 94,089,587 (GRCm39) T271A probably benign Het
Cfap44 T C 16: 44,300,210 (GRCm39) I1738T probably damaging Het
Cntnap3 G A 13: 64,935,583 (GRCm39) L427F probably damaging Het
Crybg3 T C 16: 59,313,934 (GRCm39) probably benign Het
Dis3l2 A G 1: 86,948,830 (GRCm39) D589G probably damaging Het
Dlg1 A G 16: 31,484,401 (GRCm39) R10G probably damaging Het
Dnajc1 A C 2: 18,311,752 (GRCm39) probably benign Het
Dpy19l2 T A 9: 24,492,430 (GRCm39) T723S probably benign Het
Dsg3 A T 18: 20,671,586 (GRCm39) N764Y probably damaging Het
Dst G T 1: 34,301,141 (GRCm39) R3654L probably damaging Het
Dynlt5 T G 4: 102,861,447 (GRCm39) L147R probably damaging Het
Evl C T 12: 108,641,812 (GRCm39) T198I probably benign Het
Hectd2 A G 19: 36,574,639 (GRCm39) probably benign Het
Hsp90b1 A G 10: 86,537,609 (GRCm39) V232A possibly damaging Het
Igsf5 T C 16: 96,174,072 (GRCm39) V34A probably benign Het
Ikzf2 A T 1: 69,722,403 (GRCm39) N41K probably damaging Het
Kif6 G T 17: 50,022,116 (GRCm39) A339S probably damaging Het
Knop1 A C 7: 118,452,557 (GRCm39) V54G probably damaging Het
Lama4 T A 10: 38,906,444 (GRCm39) V270D probably benign Het
Lnx2 A G 5: 146,961,160 (GRCm39) probably null Het
Lrp5 A T 19: 3,652,333 (GRCm39) V1179E probably benign Het
Lrpprc T G 17: 85,047,598 (GRCm39) D878A possibly damaging Het
Lrrc14 A T 15: 76,599,510 (GRCm39) probably benign Het
Ltbp1 A T 17: 75,580,865 (GRCm39) D660V probably damaging Het
Macf1 C G 4: 123,333,229 (GRCm39) probably null Het
Map3k21 C A 8: 126,668,499 (GRCm39) T695K possibly damaging Het
Mcm3ap T A 10: 76,324,253 (GRCm39) D895E possibly damaging Het
Mink1 T A 11: 70,500,412 (GRCm39) D779E possibly damaging Het
Mkrn3 T C 7: 62,069,467 (GRCm39) E108G probably damaging Het
Mtcl3 T C 10: 29,019,644 (GRCm39) probably benign Het
Nars1 A G 18: 64,643,556 (GRCm39) V141A possibly damaging Het
Or8g34 T C 9: 39,373,633 (GRCm39) V299A probably benign Het
Pard3b T A 1: 62,255,690 (GRCm39) Y572N probably benign Het
Pcnx3 A C 19: 5,717,186 (GRCm39) M1599R possibly damaging Het
Pitx2 A G 3: 129,012,169 (GRCm39) S180G probably damaging Het
Pkd2l1 A C 19: 44,140,529 (GRCm39) V608G probably benign Het
Pkhd1l1 A G 15: 44,396,361 (GRCm39) D1961G probably benign Het
Pxylp1 T C 9: 96,721,179 (GRCm39) T109A probably damaging Het
Rai1 T A 11: 60,078,419 (GRCm39) C828S probably damaging Het
Ralgapa1 T A 12: 55,785,050 (GRCm39) T737S possibly damaging Het
Scn11a A G 9: 119,640,190 (GRCm39) V235A probably damaging Het
Sfxn1 A T 13: 54,245,306 (GRCm39) T134S probably benign Het
Skint1 A G 4: 111,876,532 (GRCm39) Y151C probably benign Het
Slc11a1 G T 1: 74,416,335 (GRCm39) W54L probably benign Het
Slc49a3 A T 5: 108,593,351 (GRCm39) H162Q probably damaging Het
Synpo2l T A 14: 20,716,003 (GRCm39) Q191L probably benign Het
Tank A G 2: 61,483,913 (GRCm39) probably benign Het
Terb1 A T 8: 105,215,117 (GRCm39) probably null Het
Trdc T C 14: 54,381,768 (GRCm39) probably benign Het
Tsen34 A G 7: 3,697,787 (GRCm39) I63V probably null Het
Ust T C 10: 8,123,865 (GRCm39) H257R probably benign Het
Vmn2r6 T C 3: 64,472,652 (GRCm39) Q23R probably benign Het
Wdr93 A T 7: 79,423,179 (GRCm39) H481L probably damaging Het
Xirp2 A G 2: 67,341,664 (GRCm39) T1302A possibly damaging Het
Zc3h6 C A 2: 128,839,710 (GRCm39) Y174* probably null Het
Zcchc7 T G 4: 44,931,244 (GRCm39) D144E possibly damaging Het
Zfp472 T A 17: 33,196,481 (GRCm39) H185Q possibly damaging Het
Zfp523 C A 17: 28,421,532 (GRCm39) P66H probably benign Het
Zfp712 A T 13: 67,192,881 (GRCm39) L57Q probably damaging Het
Zik1 G A 7: 10,224,498 (GRCm39) Q200* probably null 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
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
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'- ATGGGTTAATGGAGATCTAGAGTCAC -3'
(R):5'- ATGTCAAGACTTTTAGGTTCACCC -3'

Sequencing Primer
(F):5'- GGAGATCTAGAGTCACATACCTTTG -3'
(R):5'- GTTTATTAACTGCAACAATCCCCC -3'
Posted On 2017-03-31