Incidental Mutation 'IGL01736:Kif17'
ID 105708
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 # IGL01736
Quality Score
Status
Chromosome 4
Chromosomal Location 137989562-138029284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 138013876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 264 (L264Q)
Ref Sequence ENSEMBL: ENSMUSP00000101444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030539] [ENSMUST00000105818] [ENSMUST00000105821]
AlphaFold Q99PW8
Predicted Effect possibly damaging
Transcript: ENSMUST00000030539
AA Change: L456Q

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: L456Q

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: L264Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: L264Q

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,326,503 (GRCm39) T290A possibly damaging Het
Apip G A 2: 102,917,486 (GRCm39) V62M probably damaging Het
Appbp2 T C 11: 85,105,143 (GRCm39) K141R possibly damaging Het
Arhgef18 T A 8: 3,501,624 (GRCm39) probably benign Het
B3galt2 A G 1: 143,522,583 (GRCm39) T240A probably benign Het
Bivm A T 1: 44,180,973 (GRCm39) N385I probably damaging Het
Brd4 A T 17: 32,417,649 (GRCm39) probably benign Het
Cage1 T C 13: 38,206,789 (GRCm39) D352G possibly damaging Het
Ceacam10 A G 7: 24,480,535 (GRCm39) Y102C probably damaging Het
Diaph3 T C 14: 87,156,282 (GRCm39) D677G probably benign Het
Dis3l T C 9: 64,226,536 (GRCm39) probably null Het
Dnah6 C T 6: 73,165,360 (GRCm39) V582M probably benign Het
Fndc3b A G 3: 27,521,552 (GRCm39) L541P probably damaging Het
Folh1 T C 7: 86,391,444 (GRCm39) T384A possibly damaging Het
Gdpd3 T C 7: 126,365,695 (GRCm39) L18P probably damaging Het
Grxcr2 T A 18: 42,132,047 (GRCm39) K7N probably damaging Het
Gulo A G 14: 66,234,325 (GRCm39) F246L probably benign Het
Inpp4b A T 8: 82,723,968 (GRCm39) D500V probably benign Het
Ints4 C T 7: 97,175,849 (GRCm39) L647F probably benign Het
Kif21a T C 15: 90,843,948 (GRCm39) N1104S possibly damaging Het
Ly6e T G 15: 74,830,546 (GRCm39) L132R probably benign Het
Mis18bp1 T A 12: 65,185,452 (GRCm39) H905L probably damaging Het
Nr2f2 A G 7: 70,004,446 (GRCm39) S269P probably damaging Het
Or2b2b C A 13: 21,858,787 (GRCm39) C109F probably benign Het
Or2o1 G A 11: 49,051,354 (GRCm39) C171Y probably damaging Het
Or5d46 T A 2: 88,170,771 (GRCm39) N287K probably damaging Het
Pde8b T C 13: 95,166,910 (GRCm39) I757V probably damaging Het
Psg23 A T 7: 18,346,122 (GRCm39) I191N possibly damaging Het
Slc12a4 A T 8: 106,672,475 (GRCm39) probably null Het
Snph A T 2: 151,436,093 (GRCm39) Y209* probably null Het
Tnfaip3 T C 10: 18,882,649 (GRCm39) H256R probably damaging Het
Tnip3 T A 6: 65,573,107 (GRCm39) probably benign Het
Ttc3 T A 16: 94,243,386 (GRCm39) F1130Y probably damaging Het
Twnk T G 19: 44,998,627 (GRCm39) V515G probably damaging Het
Usp24 T A 4: 106,280,658 (GRCm39) I2324K probably benign Het
Vwa7 T C 17: 35,238,827 (GRCm39) F305S probably damaging Het
Ythdc2 A T 18: 44,983,735 (GRCm39) Q567L probably damaging Het
Zbtb11 T A 16: 55,818,523 (GRCm39) I649K probably damaging Het
Zbtb49 T C 5: 38,358,204 (GRCm39) Y683C probably damaging Het
Zfhx4 A T 3: 5,309,152 (GRCm39) M793L possibly damaging Het
Zmym6 T G 4: 127,002,437 (GRCm39) I556R probably damaging Het
Zswim8 C T 14: 20,764,780 (GRCm39) P717S probably benign 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
IGL01559:Kif17 APN 4 138,021,080 (GRCm39) missense probably damaging 0.99
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 2014-01-21