Incidental Mutation 'IGL02215:Klc3'
ID284847
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 #IGL02215
Quality Score
Status
Chromosome7
Chromosomal Location19394437-19404104 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 19395825 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 373 (N373I)
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: N373I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038091
Gene: ENSMUSG00000040714
AA Change: N373I

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: N373I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104097
Gene: ENSMUSG00000040714
AA Change: N373I

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: N373I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104098
Gene: ENSMUSG00000040714
AA Change: N373I

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: N373I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104099
Gene: ENSMUSG00000040714
AA Change: N373I

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 127,395,573 S378R probably benign Het
Abca14 T A 7: 120,253,389 M859K probably benign Het
Adamts13 C T 2: 26,985,483 P462S probably damaging Het
Apol7a G T 15: 77,393,490 D19E possibly damaging Het
Armc8 T C 9: 99,483,978 N628D possibly damaging Het
Astn2 T A 4: 66,266,234 I209F unknown Het
Atp10b T C 11: 43,194,665 probably null Het
C4b C T 17: 34,734,491 C1006Y probably damaging Het
Capn13 A G 17: 73,330,998 L470P probably damaging Het
Col4a4 T C 1: 82,453,809 R1585G unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd3 C T 15: 47,585,688 V3637M probably damaging Het
Dgki C T 6: 37,016,675 D584N probably damaging Het
Dmrt2 T C 19: 25,678,134 S366P probably damaging Het
Dmtf1 A C 5: 9,136,070 L172R probably damaging Het
Efhc2 A G X: 17,230,578 F177L probably damaging Het
Enpep T A 3: 129,270,277 probably benign Het
Enpp6 A T 8: 47,065,932 D245V probably damaging Het
Fam199x T A X: 137,062,650 probably benign Het
Fkbp4 A T 6: 128,434,470 probably benign Het
Gas7 A G 11: 67,643,332 H86R probably benign Het
Gcc2 A G 10: 58,271,636 N862S probably benign Het
Gstm7 T C 3: 107,930,278 D115G possibly damaging Het
Gtse1 C A 15: 85,862,598 P205Q possibly damaging Het
Herc4 G A 10: 63,273,566 M193I probably benign Het
Hist1h2ba A T 13: 23,934,110 F16Y probably benign Het
Igfl3 T A 7: 18,179,838 C38S possibly damaging Het
Il18rap G A 1: 40,547,922 D455N probably damaging Het
Ints8 A G 4: 11,209,244 I932T probably damaging Het
Itgbl1 A C 14: 123,972,141 I311L probably benign Het
Jmjd1c A T 10: 67,220,322 H794L probably damaging Het
Kif1a A G 1: 93,020,549 S1542P probably benign Het
Lcn2 T C 2: 32,384,865 *201W probably null Het
Ldhb A T 6: 142,495,566 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Npat T A 9: 53,559,117 S348T probably benign Het
Pclo A T 5: 14,856,985 D5001V unknown Het
Peg3 C A 7: 6,709,011 A1071S probably benign Het
Piwil2 A T 14: 70,391,373 D731E possibly damaging Het
Prss41 T A 17: 23,843,856 D35V probably benign Het
Ptprz1 T A 6: 22,965,182 D159E possibly damaging Het
Rabep1 C T 11: 70,923,197 Q571* probably null Het
Scn8a A G 15: 101,029,572 probably null Het
Sipa1l2 G A 8: 125,447,837 T1234I possibly damaging Het
Slc5a10 T A 11: 61,673,912 M414L probably benign Het
Smg5 T C 3: 88,352,998 S632P possibly damaging Het
Smim15 A G 13: 108,047,514 D18G probably benign Het
Sorl1 T A 9: 42,018,182 I1132F probably damaging Het
Spatc1 T C 15: 76,283,539 probably benign Het
Sytl2 A T 7: 90,381,214 probably benign Het
Tesc A G 5: 118,061,618 D195G probably damaging Het
Tmem39b T A 4: 129,692,518 probably null Het
Vmn2r52 A G 7: 10,171,102 V270A probably damaging Het
Wdr3 C A 3: 100,146,700 probably null Het
Other mutations in Klc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Klc3 APN 7 19396295 missense possibly damaging 0.78
IGL02530:Klc3 APN 7 19397044 missense probably benign 0.11
IGL03062:Klc3 APN 7 19395062 missense probably damaging 1.00
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 On2015-04-16