Incidental Mutation 'IGL02671:Kif17'
ID302919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif17
Ensembl Gene ENSMUSG00000028758
Gene Namekinesin family member 17
SynonymsN-4 kinesin, 5930435E01Rik, Kif17b
Accession Numbers

Genbank: NM_010623; MGI: 1098229

Is this an essential gene? Possibly non essential (E-score: 0.272) question?
Stock #IGL02671
Quality Score
Status
Chromosome4
Chromosomal Location138250435-138301967 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 138288061 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 315 (D315G)
Ref Sequence ENSEMBL: ENSMUSP00000101444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030539] [ENSMUST00000105818] [ENSMUST00000105821]
Predicted Effect probably benign
Transcript: ENSMUST00000030539
AA Change: D507G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: D507G

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 possibly damaging
Transcript: ENSMUST00000105818
AA Change: D315G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: D315G

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 probably benign
Transcript: ENSMUST00000105821
SMART Domains Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A T 10: 77,980,550 probably benign Het
9030612E09Rik T A 10: 43,174,891 H60Q probably benign Het
Agrn C T 4: 156,174,561 probably benign Het
Angpt1 C T 15: 42,676,394 R23H possibly damaging Het
Cadps T A 14: 12,491,824 E775D probably damaging Het
Cdc42bpa T A 1: 180,061,822 M211K probably benign Het
Clec16a A G 16: 10,627,381 M77V probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp27b1 G T 10: 127,051,043 probably null Het
Eef1d A G 15: 75,895,805 I240T probably damaging Het
Fras1 T A 5: 96,728,616 F2403I possibly damaging Het
Ighv1-47 C T 12: 114,991,398 V21I possibly damaging Het
Kank1 T C 19: 25,428,095 L1159P probably damaging Het
Kif12 T C 4: 63,170,457 E202G probably benign Het
Mcam T C 9: 44,137,034 probably benign Het
Mpdz A T 4: 81,290,273 D1778E probably damaging Het
Numbl C T 7: 27,264,902 R46W probably damaging Het
Olfr213 C T 6: 116,541,143 T230I possibly damaging Het
Olfr366 A T 2: 37,220,245 Y252F probably damaging Het
Pde3b T C 7: 114,523,345 V716A possibly damaging Het
Plcg1 T A 2: 160,755,752 Y771* probably null Het
Pramel5 A G 4: 144,273,112 V135A probably benign Het
Slu7 A G 11: 43,445,475 probably null Het
Taf2 C T 15: 55,034,176 V919I probably benign Het
Tcf12 G A 9: 72,109,717 T36M probably damaging Het
Tlr11 A T 14: 50,360,692 D45V probably damaging Het
Tmem132b A G 5: 125,778,727 T508A probably damaging Het
Trf C T 9: 103,211,982 E569K probably benign Het
Trim24 T C 6: 37,960,784 C875R probably damaging Het
Usf3 A G 16: 44,221,781 N2208S probably damaging Het
Usp14 A G 18: 9,997,196 V436A probably damaging Het
Vwa5b1 G A 4: 138,569,126 R1197* probably null Het
Other mutations in Kif17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Kif17 APN 4 138262708 missense possibly damaging 0.66
IGL00973:Kif17 APN 4 138275057 missense probably benign 0.06
IGL01527:Kif17 APN 4 138269086 missense probably benign 0.21
IGL01559:Kif17 APN 4 138293769 missense probably damaging 0.99
IGL01736:Kif17 APN 4 138286565 missense possibly damaging 0.96
IGL02976:Kif17 APN 4 138269063 missense probably damaging 1.00
IGL03051:Kif17 APN 4 138289254 missense probably damaging 0.99
IGL03285:Kif17 APN 4 138268990 missense probably damaging 0.97
easy_company UTSW 4 138288332 nonsense probably null
fiddle UTSW 4 138286480 missense probably benign 0.18
fidget UTSW 4 138269891 missense probably damaging 1.00
A5278:Kif17 UTSW 4 138287950 missense probably benign 0.33
R0012:Kif17 UTSW 4 138293748 missense probably damaging 0.99
R0012:Kif17 UTSW 4 138293748 missense probably damaging 0.99
R0133:Kif17 UTSW 4 138278245 missense possibly damaging 0.73
R0627:Kif17 UTSW 4 138288487 critical splice donor site probably null
R0670:Kif17 UTSW 4 138262499 unclassified probably benign
R0894:Kif17 UTSW 4 138298231 missense possibly damaging 0.93
R1367:Kif17 UTSW 4 138277994 nonsense probably null
R1648:Kif17 UTSW 4 138269895 missense probably damaging 1.00
R1674:Kif17 UTSW 4 138301258 missense probably benign 0.13
R1700:Kif17 UTSW 4 138262698 nonsense probably null
R1855:Kif17 UTSW 4 138288271 missense probably benign 0.44
R2137:Kif17 UTSW 4 138262667 missense probably damaging 0.98
R2170:Kif17 UTSW 4 138288371 missense probably benign 0.01
R3008:Kif17 UTSW 4 138278165 missense probably damaging 1.00
R3855:Kif17 UTSW 4 138291510 missense probably benign 0.18
R4591:Kif17 UTSW 4 138277799 missense probably benign 0.06
R4789:Kif17 UTSW 4 138281377 missense probably damaging 1.00
R5407:Kif17 UTSW 4 138298221 missense probably damaging 1.00
R5859:Kif17 UTSW 4 138291433 missense possibly damaging 0.71
R5901:Kif17 UTSW 4 138298332 splice site probably null
R5919:Kif17 UTSW 4 138269891 missense probably damaging 1.00
R6119:Kif17 UTSW 4 138288332 nonsense probably null
R6312:Kif17 UTSW 4 138288193 missense probably benign 0.40
R6693:Kif17 UTSW 4 138286480 missense probably benign 0.18
R6774:Kif17 UTSW 4 138274995 missense probably damaging 1.00
R6838:Kif17 UTSW 4 138278399 splice site probably null
R6863:Kif17 UTSW 4 138269884 nonsense probably null
R7205:Kif17 UTSW 4 138293766 missense probably benign 0.21
R7307:Kif17 UTSW 4 138262643 missense probably benign 0.00
R7336:Kif17 UTSW 4 138298306 missense possibly damaging 0.76
R7594:Kif17 UTSW 4 138277925 missense probably damaging 1.00
R7806:Kif17 UTSW 4 138288196 missense possibly damaging 0.71
R8019:Kif17 UTSW 4 138296225 missense probably benign 0.17
R8306:Kif17 UTSW 4 138277909 missense probably damaging 0.99
Z1177:Kif17 UTSW 4 138287930 missense probably benign 0.04
Posted On2015-04-16