Incidental Mutation 'R4756:Klhl1'
ID 358043
Institutional Source Beutler Lab
Gene Symbol Klhl1
Ensembl Gene ENSMUSG00000022076
Gene Name kelch-like 1
Synonyms
MMRRC Submission 041972-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R4756 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 96342695-96756525 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96389402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 584 (T584I)
Ref Sequence ENSEMBL: ENSMUSP00000022666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022666]
AlphaFold Q9JI74
Predicted Effect probably benign
Transcript: ENSMUST00000022666
AA Change: T584I

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076
AA Change: T584I

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: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,336,830 (GRCm39) M45L probably benign Het
Acss2 T C 2: 155,403,063 (GRCm39) F627L probably damaging Het
Akap8 A G 17: 32,535,184 (GRCm39) S277P probably damaging Het
Akap9 T A 5: 4,051,418 (GRCm39) M1395K probably damaging Het
Ank1 A G 8: 23,612,893 (GRCm39) D1468G probably benign Het
Apoe A G 7: 19,430,846 (GRCm39) V121A probably benign Het
Aqp9 A T 9: 71,070,331 (GRCm39) L12H probably damaging Het
Atp2b4 G A 1: 133,639,529 (GRCm39) A1115V probably benign Het
Atp2b4 G A 1: 133,667,134 (GRCm39) P139L probably benign Het
B430218F22Rik T C 13: 118,523,980 (GRCm39) probably benign Het
Bltp2 T A 11: 78,154,854 (GRCm39) L122H probably damaging Het
Brsk1 A G 7: 4,711,866 (GRCm39) E572G possibly damaging Het
C6 T C 15: 4,811,394 (GRCm39) I414T probably benign Het
C8b T A 4: 104,644,083 (GRCm39) M250K probably benign Het
Camk1g T A 1: 193,044,393 (GRCm39) E7V probably benign Het
Clcc1 A G 3: 108,580,236 (GRCm39) probably null Het
Col4a3 G T 1: 82,694,018 (GRCm39) probably null Het
Cox5b T A 1: 36,732,310 (GRCm39) W104R probably damaging Het
Cyp2c55 A C 19: 39,019,815 (GRCm39) H251P probably damaging Het
Cyp2c67 G A 19: 39,632,188 (GRCm39) T60I probably benign Het
Defb42 T A 14: 63,285,824 (GRCm39) V68E probably benign Het
Ercc4 T A 16: 12,941,287 (GRCm39) I225N probably damaging Het
Fam120b G T 17: 15,622,658 (GRCm39) C212F probably damaging Het
Fgf10 T C 13: 118,918,045 (GRCm39) V111A probably benign Het
Fn1 G T 1: 71,629,967 (GRCm39) T2186K probably damaging Het
Fras1 T C 5: 96,929,518 (GRCm39) V3974A probably benign Het
Galnt4 T C 10: 98,944,362 (GRCm39) V29A probably benign Het
Gpr26 T C 7: 131,569,230 (GRCm39) Y192H probably damaging Het
Heatr9 A T 11: 83,407,475 (GRCm39) L236Q probably damaging Het
Hivep3 C A 4: 119,955,020 (GRCm39) P1112H probably damaging Het
Hnf4g A G 3: 3,708,069 (GRCm39) Y106C possibly damaging Het
Hnrnpdl A T 5: 100,185,783 (GRCm39) Y69* probably null Het
Itgb1 G A 8: 129,443,703 (GRCm39) A320T probably damaging Het
Kcna2 T C 3: 107,012,733 (GRCm39) I438T probably benign Het
Kif24 A G 4: 41,397,545 (GRCm39) probably null Het
Ltbp1 A G 17: 75,532,199 (GRCm39) D91G probably damaging Het
Mdga2 T C 12: 66,844,427 (GRCm39) I190M probably damaging Het
Meis2 G A 2: 115,830,686 (GRCm39) R276C probably damaging Het
Mob4 C T 1: 55,191,855 (GRCm39) R190W probably damaging Het
Mrgpra2a A G 7: 47,077,114 (GRCm39) I48T possibly damaging Het
Mst1 T C 9: 107,960,826 (GRCm39) V481A probably benign Het
Mttp A T 3: 137,821,832 (GRCm39) V245E possibly damaging Het
Nbn T A 4: 15,981,470 (GRCm39) S521T probably benign Het
Neb G T 2: 52,083,243 (GRCm39) T5654N probably damaging Het
Nlrp9a A T 7: 26,256,866 (GRCm39) K161N probably damaging Het
Nod2 T G 8: 89,390,902 (GRCm39) F388C possibly damaging Het
Or3a1 G T 11: 74,225,402 (GRCm39) F218L probably benign Het
Or4a75 G T 2: 89,447,814 (GRCm39) H241N possibly damaging Het
Or4f58 A G 2: 111,851,332 (GRCm39) F289S possibly damaging Het
Or52e2 A T 7: 102,804,332 (GRCm39) N207K probably benign Het
Or7a38 T A 10: 78,753,361 (GRCm39) I229N probably damaging Het
Or7g25 G A 9: 19,160,153 (GRCm39) L181F possibly damaging Het
P2ry1 A G 3: 60,911,898 (GRCm39) S346G probably benign Het
Polr1f T A 12: 33,487,679 (GRCm39) probably null Het
Prkcd A G 14: 30,321,623 (GRCm39) F524L probably benign Het
Qrfprl T C 6: 65,429,898 (GRCm39) I198T probably benign Het
Ramp3 A T 11: 6,624,843 (GRCm39) M46L probably benign Het
Rint1 T C 5: 24,014,791 (GRCm39) Y278H probably damaging Het
Skint11 C T 4: 114,051,874 (GRCm39) T74I probably benign Het
Slc10a7 T C 8: 79,433,579 (GRCm39) probably null Het
Slc45a2 T A 15: 11,028,016 (GRCm39) Y528* probably null Het
Slit1 A G 19: 41,637,452 (GRCm39) F329L probably damaging Het
Sltm A T 9: 70,498,892 (GRCm39) M989L possibly damaging Het
Smad9 A T 3: 54,701,874 (GRCm39) T372S possibly damaging Het
Snrpc T A 17: 28,061,306 (GRCm39) Y38* probably null Het
Spag17 A G 3: 100,010,701 (GRCm39) K2065R possibly damaging Het
Stxbp4 T A 11: 90,498,197 (GRCm39) K87N probably damaging Het
Tbc1d23 AT ATT 16: 57,019,258 (GRCm39) probably null Het
Tgfb1i1 A T 7: 127,848,571 (GRCm39) M96L probably damaging Het
Tnc T A 4: 63,885,580 (GRCm39) I1841F probably damaging Het
Ubap2 G T 4: 41,211,771 (GRCm39) H63Q probably damaging Het
Vps13a T C 19: 16,632,580 (GRCm39) N2592S probably benign Het
Xdh G A 17: 74,193,381 (GRCm39) P1305L probably benign Het
Xrn1 G A 9: 95,921,862 (GRCm39) R1425K probably benign Het
Zfp418 G A 7: 7,185,762 (GRCm39) R575Q possibly damaging Het
Zfp608 T A 18: 55,027,544 (GRCm39) Q1424H probably damaging Het
Zfp839 C A 12: 110,821,635 (GRCm39) L150I possibly damaging 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
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'- CCTTTAGTAATTTTCTGAAGGCTACT -3'
(R):5'- GGACACAATATGAAACTTAACTTCCT -3'

Sequencing Primer
(F):5'- ATGGTAAGCACACATGCC -3'
(R):5'- TGTACTGGAAGGGCCTAT -3'
Posted On 2015-11-11