Incidental Mutation 'IGL03062:Klc3'
ID409488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klc3
Ensembl Gene ENSMUSG00000040714
Gene Namekinesin light chain 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.219) question?
Stock #IGL03062
Quality Score
Status
Chromosome7
Chromosomal Location19394437-19404104 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 19395062 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 461 (G461W)
Ref Sequence ENSEMBL: ENSMUSP00000104097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047170] [ENSMUST00000062831] [ENSMUST00000108457] [ENSMUST00000108458] [ENSMUST00000108459] [ENSMUST00000108460] [ENSMUST00000108461]
Predicted Effect probably damaging
Transcript: ENSMUST00000047170
AA Change: G461W

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038091
Gene: ENSMUSG00000040714
AA Change: G461W

DomainStartEndE-ValueType
Pfam:Rab5-bind 79 248 1.1e-56 PFAM
Pfam:TPR_10 206 247 1.7e-6 PFAM
TPR 249 282 1.66e-1 SMART
TPR 291 324 1.89e-5 SMART
TPR 333 366 1.66e-1 SMART
TPR 375 408 2.55e-2 SMART
low complexity region 450 466 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062831
SMART Domains Protein: ENSMUSP00000054380
Gene: ENSMUSG00000030400

DomainStartEndE-ValueType
DEXDc 8 280 1.62e-144 SMART
Blast:DEXDc2 340 369 3e-10 BLAST
Blast:DEXDc 412 467 9e-27 BLAST
HELICc 542 686 1.32e-76 SMART
low complexity region 733 751 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108457
AA Change: G461W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104097
Gene: ENSMUSG00000040714
AA Change: G461W

DomainStartEndE-ValueType
Pfam:Rab5-bind 79 248 1.7e-57 PFAM
Pfam:TPR_10 206 247 3.2e-6 PFAM
TPR 249 282 1.66e-1 SMART
TPR 291 324 1.89e-5 SMART
TPR 333 366 1.66e-1 SMART
TPR 375 408 2.55e-2 SMART
low complexity region 450 466 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108458
AA Change: G461W

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104098
Gene: ENSMUSG00000040714
AA Change: G461W

DomainStartEndE-ValueType
Pfam:Rab5-bind 79 248 1.1e-56 PFAM
Pfam:TPR_10 206 247 1.7e-6 PFAM
TPR 249 282 1.66e-1 SMART
TPR 291 324 1.89e-5 SMART
TPR 333 366 1.66e-1 SMART
TPR 375 408 2.55e-2 SMART
low complexity region 450 466 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108459
AA Change: G461W

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104099
Gene: ENSMUSG00000040714
AA Change: G461W

DomainStartEndE-ValueType
coiled coil region 88 150 N/A INTRINSIC
low complexity region 157 173 N/A INTRINSIC
low complexity region 181 202 N/A INTRINSIC
Pfam:TPR_10 206 247 5.6e-7 PFAM
TPR 249 282 1.66e-1 SMART
TPR 291 324 1.89e-5 SMART
TPR 333 366 1.66e-1 SMART
TPR 375 408 2.55e-2 SMART
low complexity region 450 466 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108460
SMART Domains Protein: ENSMUSP00000104100
Gene: ENSMUSG00000030400

DomainStartEndE-ValueType
DEXDc 8 259 1.7e-120 SMART
Blast:DEXDc2 319 348 3e-10 BLAST
Blast:DEXDc 391 446 8e-27 BLAST
HELICc 521 665 1.32e-76 SMART
low complexity region 712 730 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108461
SMART Domains Protein: ENSMUSP00000104101
Gene: ENSMUSG00000030400

DomainStartEndE-ValueType
Pfam:DUF1227 16 161 4.5e-60 PFAM
Blast:HELICc2 193 262 1e-40 BLAST
HELICc 290 434 1.32e-76 SMART
low complexity region 481 499 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128167
Predicted Effect probably benign
Transcript: ENSMUST00000129249
SMART Domains Protein: ENSMUSP00000117840
Gene: ENSMUSG00000030400

DomainStartEndE-ValueType
DEXDc 10 204 1.14e-71 SMART
Blast:DEXDc2 264 293 2e-10 BLAST
Blast:DEXDc 336 391 5e-27 BLAST
HELICc 466 610 1.32e-76 SMART
low complexity region 657 675 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180691
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,038,517 probably benign Het
Abcb10 C T 8: 123,954,315 R714Q possibly damaging Het
Abcb5 T A 12: 118,936,087 I282L probably benign Het
Aox1 A T 1: 58,078,465 E835D probably benign Het
Arhgap17 C T 7: 123,321,874 probably null Het
Calcr C T 6: 3,693,718 V359I probably benign Het
Chd9 T A 8: 91,015,267 probably benign Het
Col28a1 T C 6: 8,017,029 probably benign Het
Dnajc11 A G 4: 151,970,861 E171G possibly damaging Het
Efhd1 T C 1: 87,264,684 F79L possibly damaging Het
Fam83a A T 15: 57,993,077 probably null Het
Fam98a A G 17: 75,540,105 probably benign Het
Ficd A G 5: 113,738,253 Y163C probably damaging Het
Filip1l T C 16: 57,506,804 S66P probably damaging Het
Fmo5 A G 3: 97,635,593 Y73C probably damaging Het
Galnt12 C A 4: 47,122,566 R574S possibly damaging Het
Lmo7 A T 14: 101,912,079 T973S possibly damaging Het
Loxl1 C A 9: 58,311,910 G326V possibly damaging Het
Lrrc24 A G 15: 76,718,304 V127A probably benign Het
Lyrm1 T C 7: 119,916,131 probably benign Het
Med28 G A 5: 45,522,469 V65I probably damaging Het
Mgat4c T C 10: 102,388,461 Y179H probably damaging Het
Micall1 A C 15: 79,114,681 N58T probably damaging Het
Ncoa4 T A 14: 32,173,420 M72K possibly damaging Het
Nutm1 T C 2: 112,248,933 Q879R probably benign Het
Olfr1428 C T 19: 12,109,148 V133I probably benign Het
Olfr870 T A 9: 20,171,167 I135F probably damaging Het
Olfr965 T A 9: 39,720,035 D269E probably benign Het
Phf11b T C 14: 59,324,924 I177M probably damaging Het
Pin1rt1 T G 2: 104,714,707 I27L probably benign Het
Plxna2 T C 1: 194,762,550 V750A possibly damaging Het
Pou5f1 A T 17: 35,510,039 N126I possibly damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rnf43 G T 11: 87,732,304 G744* probably null Het
Rsbn1 C A 3: 103,953,629 probably benign Het
Sars2 T A 7: 28,746,781 I145N possibly damaging Het
Sh3tc2 A T 18: 62,011,880 E1135V probably damaging Het
Shroom1 A G 11: 53,463,379 D42G probably benign Het
Sidt2 A G 9: 45,942,683 probably null Het
Slc39a8 T C 3: 135,886,797 probably benign Het
Slc9c1 T C 16: 45,599,758 S1059P probably benign Het
Socs6 A T 18: 88,869,846 M315K probably benign Het
Soga3 T A 10: 29,198,949 F911Y probably damaging Het
Speer2 T C 16: 69,857,977 E200G probably damaging Het
Sult2a5 T A 7: 13,624,182 probably null Het
Tmbim1 A T 1: 74,291,699 I168N possibly damaging Het
Trim38 T C 13: 23,782,963 V131A probably damaging Het
Ube2o A G 11: 116,541,642 S833P probably damaging Het
Uggt2 T C 14: 119,075,346 I350M probably damaging Het
Unc80 A G 1: 66,509,489 D640G probably damaging Het
Vmn2r13 A G 5: 109,156,282 F761S probably damaging Het
Vmn2r54 C T 7: 12,632,428 C193Y probably damaging Het
Other mutations in Klc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Klc3 APN 7 19396295 missense possibly damaging 0.78
IGL02215:Klc3 APN 7 19395825 missense probably damaging 1.00
IGL02530:Klc3 APN 7 19397044 missense probably benign 0.11
IGL02802:Klc3 UTSW 7 19395124 missense possibly damaging 0.86
R0164:Klc3 UTSW 7 19394926 missense possibly damaging 0.68
R0164:Klc3 UTSW 7 19394926 missense possibly damaging 0.68
R1864:Klc3 UTSW 7 19398041 missense probably damaging 0.98
R4702:Klc3 UTSW 7 19395831 missense probably damaging 1.00
R5301:Klc3 UTSW 7 19396349 missense probably damaging 1.00
R5436:Klc3 UTSW 7 19397959 splice site probably null
R5497:Klc3 UTSW 7 19394670 missense probably benign
R5523:Klc3 UTSW 7 19397007 missense probably damaging 1.00
R5672:Klc3 UTSW 7 19396331 missense probably damaging 1.00
R5822:Klc3 UTSW 7 19395799 critical splice donor site probably null
R6576:Klc3 UTSW 7 19397980 missense possibly damaging 0.75
R7345:Klc3 UTSW 7 19394889 missense probably benign 0.00
Posted On2016-08-02