Incidental Mutation 'R0031:Klc1'
ID 15283
Institutional Source Beutler Lab
Gene Symbol Klc1
Ensembl Gene ENSMUSG00000021288
Gene Name kinesin light chain 1
Synonyms Kns2
MMRRC Submission 038325-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.498) question?
Stock # R0031 (G1)
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 111725283-111774278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111743467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 265 (Y265H)
Ref Sequence ENSEMBL: ENSMUSP00000113997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084941] [ENSMUST00000118471] [ENSMUST00000120544] [ENSMUST00000122300] [ENSMUST00000134578]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084941
AA Change: Y265H

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000082004
Gene: ENSMUSG00000021288
AA Change: Y265H

DomainStartEndE-ValueType
coiled coil region 86 156 N/A INTRINSIC
low complexity region 158 179 N/A INTRINSIC
low complexity region 188 206 N/A INTRINSIC
Pfam:TPR_10 212 253 3.1e-9 PFAM
TPR 255 288 3.81e-1 SMART
TPR 297 330 1.16e-5 SMART
TPR 339 372 4.77e-2 SMART
TPR 381 414 2.78e-3 SMART
TPR 464 497 4.93e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118471
AA Change: Y265H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113171
Gene: ENSMUSG00000021288
AA Change: Y265H

DomainStartEndE-ValueType
Pfam:Rab5-bind 80 254 8.3e-69 PFAM
Pfam:TPR_10 212 253 7.2e-9 PFAM
TPR 255 288 3.81e-1 SMART
TPR 297 330 1.16e-5 SMART
TPR 339 372 4.77e-2 SMART
TPR 381 414 2.78e-3 SMART
TPR 464 497 4.93e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120544
AA Change: Y265H

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113237
Gene: ENSMUSG00000021288
AA Change: Y265H

DomainStartEndE-ValueType
coiled coil region 86 156 N/A INTRINSIC
low complexity region 158 179 N/A INTRINSIC
low complexity region 188 206 N/A INTRINSIC
Pfam:TPR_10 212 253 3.2e-9 PFAM
TPR 255 288 3.81e-1 SMART
TPR 297 330 1.16e-5 SMART
TPR 339 372 4.77e-2 SMART
TPR 381 414 2.78e-3 SMART
TPR 464 497 4.93e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122300
AA Change: Y265H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113997
Gene: ENSMUSG00000021288
AA Change: Y265H

DomainStartEndE-ValueType
Pfam:Rab5-bind 80 254 1e-68 PFAM
Pfam:TPR_10 212 253 8.4e-9 PFAM
TPR 255 288 3.81e-1 SMART
TPR 297 330 1.16e-5 SMART
TPR 339 372 4.77e-2 SMART
TPR 381 414 2.78e-3 SMART
TPR 464 497 2.99e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134578
SMART Domains Protein: ENSMUSP00000120491
Gene: ENSMUSG00000021288

DomainStartEndE-ValueType
Pfam:TPR_1 1 25 1.9e-4 PFAM
Pfam:TPR_7 1 36 1.9e-4 PFAM
Pfam:TPR_10 75 112 7.8e-9 PFAM
Pfam:TPR_1 77 98 1.4e-4 PFAM
Pfam:TPR_7 78 129 1.7e-5 PFAM
Meta Mutation Damage Score 0.8509 question?
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 73.5%
  • 10x: 52.2%
  • 20x: 32.1%
Validation Efficiency 93% (95/102)
MGI Phenotype FUNCTION: Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are significantly smaller than normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 G A 2: 69,115,652 (GRCm39) R571C probably damaging Het
Agr3 T C 12: 35,997,590 (GRCm39) M100T probably benign Het
Ankrd7 T A 6: 18,870,007 (GRCm39) Y253* probably null Het
Atp2c2 A T 8: 120,475,801 (GRCm39) T565S probably benign Het
Ccdc88b G T 19: 6,831,151 (GRCm39) S597Y possibly damaging Het
Celsr2 T C 3: 108,320,379 (GRCm39) N811S probably damaging Het
Cep170 A T 1: 176,583,657 (GRCm39) D907E probably damaging Het
Cip2a C T 16: 48,837,736 (GRCm39) S812F probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cmss1 T G 16: 57,131,612 (GRCm39) probably null Het
Cobl T C 11: 12,204,945 (GRCm39) T579A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Csrp2 C T 10: 110,774,601 (GRCm39) S172L probably benign Het
Fip1l1 T C 5: 74,717,770 (GRCm39) S235P probably damaging Het
Gbgt1 T A 2: 28,388,462 (GRCm39) probably benign Het
Gml2 T C 15: 74,696,125 (GRCm39) I173T probably benign Het
Gucy2c T A 6: 136,674,997 (GRCm39) I1005F probably damaging Het
Irak3 T A 10: 120,012,225 (GRCm39) K88* probably null Het
Lamb1 G A 12: 31,351,155 (GRCm39) V754I probably benign Het
Lrguk A T 6: 34,020,431 (GRCm39) Q58H probably damaging Het
Lyst A G 13: 13,882,741 (GRCm39) D2902G probably benign Het
Mtpap T A 18: 4,383,244 (GRCm39) I207N probably damaging Het
Ncdn A T 4: 126,643,901 (GRCm39) probably null Het
Nup160 A G 2: 90,547,931 (GRCm39) probably null Het
Ormdl1 A G 1: 53,338,318 (GRCm39) probably benign Het
Pde5a A G 3: 122,596,704 (GRCm39) M432V probably benign Het
Pikfyve T A 1: 65,255,088 (GRCm39) probably benign Het
Plcb2 A G 2: 118,545,942 (GRCm39) V581A probably benign Het
Plpp6 T A 19: 28,942,243 (GRCm39) N281K probably benign Het
Pwp1 T C 10: 85,721,760 (GRCm39) I422T probably benign Het
Rims1 T C 1: 22,367,103 (GRCm39) N1199S probably damaging Het
Sema3c T C 5: 17,899,726 (GRCm39) L406P probably damaging Het
Senp6 C T 9: 80,033,525 (GRCm39) P84L probably damaging Het
Setx A G 2: 29,066,941 (GRCm39) I2361V probably benign Het
Slc25a12 C T 2: 71,163,958 (GRCm39) V106M possibly damaging Het
Slc3a1 A G 17: 85,340,274 (GRCm39) Y232C probably damaging Het
Spata31g1 A T 4: 42,973,712 (GRCm39) K1015M probably damaging Het
Taf1c A T 8: 120,325,829 (GRCm39) C678S probably benign Het
Tcp11l2 G T 10: 84,427,004 (GRCm39) C156F probably damaging Het
Tmem62 A G 2: 120,829,594 (GRCm39) T316A probably benign Het
Ulk4 A G 9: 121,102,048 (GRCm39) I10T probably damaging Het
Vps54 T C 11: 21,262,899 (GRCm39) I824T probably damaging Het
Wdfy3 A T 5: 102,037,161 (GRCm39) V2042E probably damaging Het
Wfdc6b A T 2: 164,455,779 (GRCm39) E36V probably damaging Het
Xpc C T 6: 91,468,208 (GRCm39) A860T probably benign Het
Other mutations in Klc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Klc1 APN 12 111,743,318 (GRCm39) missense probably damaging 1.00
IGL00940:Klc1 APN 12 111,753,932 (GRCm39) missense probably damaging 1.00
IGL02206:Klc1 APN 12 111,744,550 (GRCm39) unclassified probably benign
IGL02487:Klc1 APN 12 111,738,886 (GRCm39) missense probably damaging 0.99
IGL02490:Klc1 APN 12 111,748,210 (GRCm39) missense possibly damaging 0.89
IGL02830:Klc1 APN 12 111,743,341 (GRCm39) missense probably damaging 0.99
IGL03121:Klc1 APN 12 111,748,076 (GRCm39) unclassified probably benign
IGL03253:Klc1 APN 12 111,748,078 (GRCm39) unclassified probably benign
IGL03376:Klc1 APN 12 111,742,387 (GRCm39) missense probably damaging 0.97
dwarf UTSW 12 111,762,037 (GRCm39) missense probably damaging 1.00
F5770:Klc1 UTSW 12 111,741,006 (GRCm39) missense probably benign 0.09
R0239:Klc1 UTSW 12 111,751,758 (GRCm39) splice site probably benign
R1647:Klc1 UTSW 12 111,743,321 (GRCm39) missense probably damaging 1.00
R1648:Klc1 UTSW 12 111,743,321 (GRCm39) missense probably damaging 1.00
R1892:Klc1 UTSW 12 111,748,261 (GRCm39) critical splice donor site probably null
R2940:Klc1 UTSW 12 111,772,451 (GRCm39) missense possibly damaging 0.49
R4829:Klc1 UTSW 12 111,762,037 (GRCm39) missense probably damaging 1.00
R4849:Klc1 UTSW 12 111,748,129 (GRCm39) missense probably damaging 1.00
R5309:Klc1 UTSW 12 111,762,055 (GRCm39) missense possibly damaging 0.82
R5312:Klc1 UTSW 12 111,762,055 (GRCm39) missense possibly damaging 0.82
R5637:Klc1 UTSW 12 111,740,842 (GRCm39) missense probably damaging 1.00
R5706:Klc1 UTSW 12 111,762,061 (GRCm39) missense possibly damaging 0.65
R6623:Klc1 UTSW 12 111,772,475 (GRCm39) missense probably damaging 1.00
R6920:Klc1 UTSW 12 111,754,019 (GRCm39) missense probably damaging 1.00
R7109:Klc1 UTSW 12 111,743,299 (GRCm39) missense probably benign 0.22
R7538:Klc1 UTSW 12 111,751,879 (GRCm39) missense probably benign 0.01
R8051:Klc1 UTSW 12 111,748,384 (GRCm39) missense possibly damaging 0.58
R8719:Klc1 UTSW 12 111,772,509 (GRCm39) critical splice donor site probably benign
R8995:Klc1 UTSW 12 111,743,344 (GRCm39) missense probably damaging 1.00
R9420:Klc1 UTSW 12 111,738,950 (GRCm39) missense probably damaging 0.99
V7580:Klc1 UTSW 12 111,741,006 (GRCm39) missense probably benign 0.09
V7581:Klc1 UTSW 12 111,741,006 (GRCm39) missense probably benign 0.09
Posted On 2012-12-17