Incidental Mutation 'IGL00952:Kif17'
ID 27294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif17
Ensembl Gene ENSMUSG00000028758
Gene Name kinesin family member 17
Synonyms 5930435E01Rik, Kif17b, N-4 kinesin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # IGL00952
Quality Score
Status
Chromosome 4
Chromosomal Location 137989562-138029284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137990019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 69 (N69S)
Ref Sequence ENSEMBL: ENSMUSP00000030539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030539] [ENSMUST00000105818] [ENSMUST00000105821] [ENSMUST00000105823] [ENSMUST00000105824]
AlphaFold Q99PW8
Predicted Effect possibly damaging
Transcript: ENSMUST00000030539
AA Change: N69S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: N69S

DomainStartEndE-ValueType
KISc 3 343 4.57e-178 SMART
coiled coil region 400 470 N/A INTRINSIC
low complexity region 723 736 N/A INTRINSIC
coiled coil region 806 852 N/A INTRINSIC
low complexity region 983 1000 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105818
SMART Domains Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758

DomainStartEndE-ValueType
KISc 1 151 1.46e-13 SMART
coiled coil region 208 278 N/A INTRINSIC
low complexity region 532 545 N/A INTRINSIC
coiled coil region 615 661 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105820
Predicted Effect unknown
Transcript: ENSMUST00000105821
AA Change: N69S
SMART Domains Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: N69S

DomainStartEndE-ValueType
KISc 3 343 4.57e-178 SMART
low complexity region 486 499 N/A INTRINSIC
coiled coil region 569 615 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105823
SMART Domains Protein: ENSMUSP00000101449
Gene: ENSMUSG00000045349

DomainStartEndE-ValueType
Pfam:PID 27 149 1e-6 PFAM
SH2 300 384 9.29e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105824
SMART Domains Protein: ENSMUSP00000101450
Gene: ENSMUSG00000045349

DomainStartEndE-ValueType
SCOP:d1ddma_ 24 146 8e-18 SMART
Blast:PTB 28 146 6e-6 BLAST
SH2 300 384 9.29e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154421
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired anterograde neuron transport, reduced NMDA-mediated synaptic currents, impaired synaptic plasticity, impaired long term object recognition memory, impaired spatial learning, and impaired contextual conditioning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T G 6: 40,941,733 (GRCm39) I4S probably benign Het
Abca8b A G 11: 109,859,886 (GRCm39) probably null Het
Aftph A T 11: 20,677,483 (GRCm39) V42E probably damaging Het
AI467606 A G 7: 126,691,874 (GRCm39) S150G probably damaging Het
Art4 T C 6: 136,831,818 (GRCm39) N108D possibly damaging Het
B9d1 G A 11: 61,403,504 (GRCm39) V167I possibly damaging Het
Ccdc47 A T 11: 106,094,358 (GRCm39) probably null Het
Ccdc96 T A 5: 36,642,424 (GRCm39) probably benign Het
Cfap44 A G 16: 44,241,638 (GRCm39) I670V probably benign Het
Col18a1 T G 10: 76,905,813 (GRCm39) K909Q possibly damaging Het
Col8a2 A G 4: 126,203,584 (GRCm39) Y59C probably damaging Het
Coro6 A T 11: 77,359,291 (GRCm39) D288V probably damaging Het
Cul4a C T 8: 13,196,562 (GRCm39) L739F probably damaging Het
Dmxl2 C T 9: 54,324,166 (GRCm39) V1073I probably damaging Het
Dnah11 T C 12: 118,160,386 (GRCm39) T115A possibly damaging Het
Fdx2 A G 9: 20,984,558 (GRCm39) probably null Het
Flnc C T 6: 29,459,546 (GRCm39) Q2549* probably null Het
Foxn2 T C 17: 88,783,308 (GRCm39) C188R probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ilf3 T C 9: 21,307,347 (GRCm39) L343P probably damaging Het
Itgb2l C T 16: 96,227,950 (GRCm39) G518S probably damaging Het
Itpr2 T A 6: 146,060,459 (GRCm39) I2486F probably damaging Het
Kat2a A G 11: 100,596,977 (GRCm39) V681A probably damaging Het
Kif26b G A 1: 178,759,770 (GRCm39) D2106N probably damaging Het
Klf6 A G 13: 5,911,680 (GRCm39) T15A probably benign Het
Lyst A G 13: 13,852,692 (GRCm39) T2231A probably benign Het
Mark4 T C 7: 19,165,749 (GRCm39) T515A possibly damaging Het
Mast3 A T 8: 71,233,327 (GRCm39) probably benign Het
Nalcn T C 14: 123,586,201 (GRCm39) K722R probably benign Het
Ncf2 G A 1: 152,711,857 (GRCm39) E524K probably benign Het
Or56a3b A G 7: 104,771,614 (GRCm39) probably null Het
Or5p81 A G 7: 108,267,445 (GRCm39) N274S possibly damaging Het
Or5w12 A T 2: 87,502,159 (GRCm39) I184N probably damaging Het
Or8c17 A T 9: 38,179,801 (GRCm39) probably benign Het
Plcg2 A T 8: 118,333,956 (GRCm39) M910L probably benign Het
Pramel14 T C 4: 143,719,894 (GRCm39) H157R probably benign Het
Rai1 A T 11: 60,078,818 (GRCm39) K961* probably null Het
Rsph14 T C 10: 74,865,601 (GRCm39) D112G probably benign Het
Sgo1 T A 17: 53,994,275 (GRCm39) D59V probably damaging Het
Slc22a29 A T 19: 8,195,221 (GRCm39) V138E probably damaging Het
Slc9a1 T A 4: 133,143,693 (GRCm39) V393D probably damaging Het
Smg6 A G 11: 74,819,974 (GRCm39) R82G probably benign Het
Sppl3 T C 5: 115,212,935 (GRCm39) S55P probably benign Het
Srsf12 A C 4: 33,226,103 (GRCm39) Q122P possibly damaging Het
Tas1r2 T C 4: 139,382,563 (GRCm39) M67T probably benign Het
Thnsl1 G A 2: 21,216,767 (GRCm39) V174I possibly damaging Het
Thumpd1 A G 7: 119,316,232 (GRCm39) V239A possibly damaging Het
Tnxb T G 17: 34,932,102 (GRCm39) Y2212D probably damaging Het
Trim40 T C 17: 37,193,289 (GRCm39) *213W probably null Het
Ttc16 T C 2: 32,660,259 (GRCm39) D183G probably damaging Het
Other mutations in Kif17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Kif17 APN 4 138,002,368 (GRCm39) missense probably benign 0.06
IGL01527:Kif17 APN 4 137,996,397 (GRCm39) missense probably benign 0.21
IGL01559:Kif17 APN 4 138,021,080 (GRCm39) missense probably damaging 0.99
IGL01736:Kif17 APN 4 138,013,876 (GRCm39) missense possibly damaging 0.96
IGL02671:Kif17 APN 4 138,015,372 (GRCm39) missense possibly damaging 0.85
IGL02976:Kif17 APN 4 137,996,374 (GRCm39) missense probably damaging 1.00
IGL03051:Kif17 APN 4 138,016,565 (GRCm39) missense probably damaging 0.99
IGL03285:Kif17 APN 4 137,996,301 (GRCm39) missense probably damaging 0.97
easy_company UTSW 4 138,015,643 (GRCm39) nonsense probably null
fiddle UTSW 4 138,013,791 (GRCm39) missense probably benign 0.18
fidget UTSW 4 137,997,202 (GRCm39) missense probably damaging 1.00
A5278:Kif17 UTSW 4 138,015,261 (GRCm39) missense probably benign 0.33
R0012:Kif17 UTSW 4 138,021,059 (GRCm39) missense probably damaging 0.99
R0012:Kif17 UTSW 4 138,021,059 (GRCm39) missense probably damaging 0.99
R0133:Kif17 UTSW 4 138,005,556 (GRCm39) missense possibly damaging 0.73
R0627:Kif17 UTSW 4 138,015,798 (GRCm39) critical splice donor site probably null
R0670:Kif17 UTSW 4 137,989,810 (GRCm39) unclassified probably benign
R0894:Kif17 UTSW 4 138,025,542 (GRCm39) missense possibly damaging 0.93
R1367:Kif17 UTSW 4 138,005,305 (GRCm39) nonsense probably null
R1648:Kif17 UTSW 4 137,997,206 (GRCm39) missense probably damaging 1.00
R1674:Kif17 UTSW 4 138,028,569 (GRCm39) missense probably benign 0.13
R1700:Kif17 UTSW 4 137,990,009 (GRCm39) nonsense probably null
R1855:Kif17 UTSW 4 138,015,582 (GRCm39) missense probably benign 0.44
R2137:Kif17 UTSW 4 137,989,978 (GRCm39) missense probably damaging 0.98
R2170:Kif17 UTSW 4 138,015,682 (GRCm39) missense probably benign 0.01
R3008:Kif17 UTSW 4 138,005,476 (GRCm39) missense probably damaging 1.00
R3855:Kif17 UTSW 4 138,018,821 (GRCm39) missense probably benign 0.18
R4591:Kif17 UTSW 4 138,005,110 (GRCm39) missense probably benign 0.06
R4789:Kif17 UTSW 4 138,008,688 (GRCm39) missense probably damaging 1.00
R5407:Kif17 UTSW 4 138,025,532 (GRCm39) missense probably damaging 1.00
R5859:Kif17 UTSW 4 138,018,744 (GRCm39) missense possibly damaging 0.71
R5901:Kif17 UTSW 4 138,025,643 (GRCm39) splice site probably null
R5919:Kif17 UTSW 4 137,997,202 (GRCm39) missense probably damaging 1.00
R6119:Kif17 UTSW 4 138,015,643 (GRCm39) nonsense probably null
R6312:Kif17 UTSW 4 138,015,504 (GRCm39) missense probably benign 0.40
R6693:Kif17 UTSW 4 138,013,791 (GRCm39) missense probably benign 0.18
R6774:Kif17 UTSW 4 138,002,306 (GRCm39) missense probably damaging 1.00
R6838:Kif17 UTSW 4 138,005,710 (GRCm39) splice site probably null
R6863:Kif17 UTSW 4 137,997,195 (GRCm39) nonsense probably null
R7205:Kif17 UTSW 4 138,021,077 (GRCm39) missense probably benign 0.21
R7307:Kif17 UTSW 4 137,989,954 (GRCm39) missense probably benign 0.00
R7336:Kif17 UTSW 4 138,025,617 (GRCm39) missense possibly damaging 0.76
R7594:Kif17 UTSW 4 138,005,236 (GRCm39) missense probably damaging 1.00
R7806:Kif17 UTSW 4 138,015,507 (GRCm39) missense possibly damaging 0.71
R8019:Kif17 UTSW 4 138,023,536 (GRCm39) missense probably benign 0.17
R8306:Kif17 UTSW 4 138,005,220 (GRCm39) missense probably damaging 0.99
R9461:Kif17 UTSW 4 138,005,253 (GRCm39) missense probably damaging 1.00
Z1177:Kif17 UTSW 4 138,015,241 (GRCm39) missense probably benign 0.04
Posted On 2013-04-17