Incidental Mutation 'IGL01640:Kif2a'
ID 93110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif2a
Ensembl Gene ENSMUSG00000021693
Gene Name kinesin family member 2A
Synonyms Kns2, M-kinesin, Kif2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01640
Quality Score
Status
Chromosome 13
Chromosomal Location 107095504-107158634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107111060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 529 (I529T)
Ref Sequence ENSEMBL: ENSMUSP00000125644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022204] [ENSMUST00000117423] [ENSMUST00000117539] [ENSMUST00000122233] [ENSMUST00000159772]
AlphaFold P28740
Predicted Effect probably damaging
Transcript: ENSMUST00000022204
AA Change: I529T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022204
Gene: ENSMUSG00000021693
AA Change: I529T

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
low complexity region 159 183 N/A INTRINSIC
KISc 220 560 6.56e-147 SMART
low complexity region 613 625 N/A INTRINSIC
coiled coil region 660 698 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117423
AA Change: I483T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113921
Gene: ENSMUSG00000021693
AA Change: I483T

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
low complexity region 113 137 N/A INTRINSIC
KISc 174 514 6.56e-147 SMART
low complexity region 567 579 N/A INTRINSIC
coiled coil region 614 652 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117539
AA Change: I513T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113361
Gene: ENSMUSG00000021693
AA Change: I513T

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
low complexity region 143 167 N/A INTRINSIC
KISc 204 544 6.56e-147 SMART
low complexity region 597 609 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122233
AA Change: I502T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112715
Gene: ENSMUSG00000021693
AA Change: I502T

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
low complexity region 132 156 N/A INTRINSIC
KISc 193 533 4.33e-147 SMART
low complexity region 542 556 N/A INTRINSIC
low complexity region 624 636 N/A INTRINSIC
coiled coil region 671 709 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159772
AA Change: I529T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125644
Gene: ENSMUSG00000021693
AA Change: I529T

DomainStartEndE-ValueType
low complexity region 73 85 N/A INTRINSIC
low complexity region 159 183 N/A INTRINSIC
KISc 220 560 4.33e-147 SMART
low complexity region 569 583 N/A INTRINSIC
low complexity region 651 663 N/A INTRINSIC
coiled coil region 698 736 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162845
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display neonatal lethality, abnormal lamination of the cerebral cortex, hippocampus and cerebellum, impaired neuronal migration, and abnormal axon outgrowth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,373,587 (GRCm39) T3A probably damaging Het
4933402N03Rik A T 7: 130,740,848 (GRCm39) S123T possibly damaging Het
Adamts17 A T 7: 66,679,428 (GRCm39) T559S probably damaging Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Arel1 G A 12: 84,967,475 (GRCm39) T783M probably damaging Het
B3gntl1 C T 11: 121,563,846 (GRCm39) E5K probably benign Het
Faf1 T A 4: 109,697,600 (GRCm39) F309I probably damaging Het
Fhod3 T G 18: 25,248,850 (GRCm39) M1343R probably benign Het
Fnbp1 A G 2: 30,995,303 (GRCm39) F44L probably damaging Het
Gm3633 A T 14: 42,460,324 (GRCm39) Y206* probably null Het
Gprc6a A C 10: 51,503,180 (GRCm39) F228V probably damaging Het
Il31ra T C 13: 112,668,292 (GRCm39) I453V possibly damaging Het
Lrrc19 C T 4: 94,526,745 (GRCm39) V271I probably damaging Het
Ncaph2 A G 15: 89,248,041 (GRCm39) probably null Het
Nek5 A G 8: 22,610,856 (GRCm39) I49T probably benign Het
Nhlrc3 A T 3: 53,360,958 (GRCm39) probably benign Het
Or51ac3 A G 7: 103,214,228 (GRCm39) V86A probably damaging Het
Or52n20 A T 7: 104,320,871 (GRCm39) S321C probably damaging Het
Or8g28 C A 9: 39,169,559 (GRCm39) M136I probably damaging Het
Pcnx2 T C 8: 126,528,297 (GRCm39) T1308A probably benign Het
Pla2g6 T C 15: 79,188,513 (GRCm39) N448S probably benign Het
Pole T A 5: 110,446,132 (GRCm39) L571Q probably null Het
Rufy1 A G 11: 50,281,205 (GRCm39) probably benign Het
Sftpd C A 14: 40,894,592 (GRCm39) A276S probably benign Het
Slc35f4 A C 14: 49,556,225 (GRCm39) V176G probably damaging Het
Snrpb T C 2: 130,017,251 (GRCm39) D89G probably benign Het
Stab2 A T 10: 86,790,035 (GRCm39) V577D probably benign Het
Synrg A C 11: 83,872,334 (GRCm39) S152R probably damaging Het
Trgv7 T C 13: 19,362,260 (GRCm39) probably benign Het
Trpm1 A G 7: 63,876,645 (GRCm39) E682G probably damaging Het
Unc80 T C 1: 66,718,744 (GRCm39) I2989T probably benign Het
Vmn1r116 A G 7: 20,606,373 (GRCm39) T65A probably benign Het
Zfp469 G A 8: 122,998,009 (GRCm39) probably benign Het
Other mutations in Kif2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00934:Kif2a APN 13 107,105,301 (GRCm39) splice site probably benign
IGL02524:Kif2a APN 13 107,100,863 (GRCm39) missense possibly damaging 0.82
R0088:Kif2a UTSW 13 107,111,940 (GRCm39) missense probably damaging 1.00
R0276:Kif2a UTSW 13 107,113,158 (GRCm39) splice site probably benign
R1233:Kif2a UTSW 13 107,123,840 (GRCm39) missense probably damaging 1.00
R1345:Kif2a UTSW 13 107,130,423 (GRCm39) missense probably damaging 0.99
R1772:Kif2a UTSW 13 107,114,640 (GRCm39) intron probably benign
R1900:Kif2a UTSW 13 107,113,503 (GRCm39) missense possibly damaging 0.46
R1932:Kif2a UTSW 13 107,114,599 (GRCm39) missense probably benign 0.00
R2364:Kif2a UTSW 13 107,113,344 (GRCm39) missense probably damaging 1.00
R3177:Kif2a UTSW 13 107,113,264 (GRCm39) missense probably damaging 1.00
R3277:Kif2a UTSW 13 107,113,264 (GRCm39) missense probably damaging 1.00
R4646:Kif2a UTSW 13 107,098,693 (GRCm39) missense probably damaging 1.00
R5566:Kif2a UTSW 13 107,130,432 (GRCm39) splice site probably null 1.00
R5761:Kif2a UTSW 13 107,098,672 (GRCm39) missense probably benign 0.05
R5797:Kif2a UTSW 13 107,111,884 (GRCm39) missense probably damaging 1.00
R6812:Kif2a UTSW 13 107,106,259 (GRCm39) missense probably benign 0.00
R7025:Kif2a UTSW 13 107,119,102 (GRCm39) missense probably damaging 1.00
R7792:Kif2a UTSW 13 107,124,490 (GRCm39) missense probably benign 0.06
R8679:Kif2a UTSW 13 107,116,049 (GRCm39) missense probably damaging 0.98
R8972:Kif2a UTSW 13 107,115,543 (GRCm39) missense probably damaging 1.00
R9569:Kif2a UTSW 13 107,105,246 (GRCm39) missense probably benign 0.00
R9627:Kif2a UTSW 13 107,158,558 (GRCm39) missense possibly damaging 0.56
R9733:Kif2a UTSW 13 107,106,304 (GRCm39) missense probably damaging 0.99
Posted On 2013-12-09