Incidental Mutation 'IGL01559:Kif17'
ID 90801
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 # IGL01559
Quality Score
Status
Chromosome 4
Chromosomal Location 137989562-138029284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138021080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 850 (I850V)
Ref Sequence ENSEMBL: ENSMUSP00000030539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030539] [ENSMUST00000105818] [ENSMUST00000105821]
AlphaFold Q99PW8
Predicted Effect probably damaging
Transcript: ENSMUST00000030539
AA Change: I850V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: I850V

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
AA Change: I659V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: I659V

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 possibly damaging
Transcript: ENSMUST00000105821
AA Change: I613V

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: I613V

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
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,259,020 (GRCm39) N2915K possibly damaging Het
Abca5 T C 11: 110,163,352 (GRCm39) N1621S probably benign Het
Asb18 G A 1: 89,882,172 (GRCm39) S122F probably damaging Het
Atg4c A G 4: 99,106,440 (GRCm39) probably benign Het
Bbs7 T C 3: 36,648,659 (GRCm39) Y363C probably damaging Het
Celsr2 T C 3: 108,314,183 (GRCm39) T1281A possibly damaging Het
Cers1 A G 8: 70,775,883 (GRCm39) N295S probably damaging Het
Csn1s2b A T 5: 87,968,810 (GRCm39) K80* probably null Het
Dennd6a A G 14: 26,329,720 (GRCm39) D97G probably damaging Het
Dmxl1 A G 18: 50,054,005 (GRCm39) Y2537C probably damaging Het
Dnah6 A G 6: 73,001,235 (GRCm39) probably null Het
Exoc4 A G 6: 33,243,011 (GRCm39) T75A probably damaging Het
Fbll1 T C 11: 35,688,372 (GRCm39) E297G probably damaging Het
Gm10642 T A 9: 70,563,874 (GRCm39) D152V probably damaging Het
Hdac3 A G 18: 38,076,725 (GRCm39) probably benign Het
Or2l13 T C 16: 19,306,209 (GRCm39) L207P probably benign Het
Pi4kb T A 3: 94,891,440 (GRCm39) L52Q probably benign Het
Sec14l1 C A 11: 117,034,110 (GRCm39) probably null Het
Slc28a2 T A 2: 122,285,021 (GRCm39) H336Q probably damaging Het
Usp17lb A G 7: 104,490,436 (GRCm39) S164P probably damaging Het
Other mutations in Kif17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Kif17 APN 4 137,990,019 (GRCm39) missense possibly damaging 0.66
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
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 2013-12-09