Incidental Mutation 'IGL02976:Kif17'
| ID |
406393 |
| 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)
|
| Stock # |
IGL02976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 137996374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 117
(A117V)
|
| 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: A117V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: A117V
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000105818
AA Change: A17V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: A17V
| Domain | Start | End | E-Value | Type |
|---|
|
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: A117V
|
| SMART Domains |
Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: A117V
| Domain | Start | End | E-Value | Type |
|---|
|
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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
A |
G |
9: 101,816,845 (GRCm39) |
T84A |
possibly damaging |
Het |
| Adgrd1 |
T |
A |
5: 129,208,661 (GRCm39) |
S288T |
probably benign |
Het |
| Ano7 |
T |
A |
1: 93,330,395 (GRCm39) |
D806E |
possibly damaging |
Het |
| Arl6 |
A |
G |
16: 59,444,259 (GRCm39) |
L79P |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,310 (GRCm39) |
C695* |
probably null |
Het |
| Carmil1 |
T |
C |
13: 24,276,534 (GRCm39) |
N610S |
possibly damaging |
Het |
| Cdc40 |
A |
G |
10: 40,758,917 (GRCm39) |
V52A |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,098,331 (GRCm39) |
R369H |
probably damaging |
Het |
| Clasp2 |
C |
T |
9: 113,735,204 (GRCm39) |
P1031L |
probably damaging |
Het |
| Cldn34d |
C |
T |
X: 75,626,690 (GRCm39) |
A121T |
probably benign |
Het |
| Clmp |
A |
C |
9: 40,692,520 (GRCm39) |
Y263S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,104 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
A |
T |
7: 86,412,126 (GRCm39) |
M215K |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,744 (GRCm39) |
R233C |
probably damaging |
Het |
| Gcdh |
A |
C |
8: 85,615,207 (GRCm39) |
Y398D |
probably damaging |
Het |
| Gm26741 |
T |
G |
10: 52,234,910 (GRCm39) |
S16R |
possibly damaging |
Het |
| Jph3 |
T |
A |
8: 122,479,823 (GRCm39) |
L167Q |
probably damaging |
Het |
| Jup |
A |
G |
11: 100,269,192 (GRCm39) |
V407A |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Magi2 |
C |
T |
5: 20,739,473 (GRCm39) |
P349S |
probably damaging |
Het |
| Mlycd |
T |
C |
8: 120,128,224 (GRCm39) |
M177T |
possibly damaging |
Het |
| Mocos |
A |
G |
18: 24,799,626 (GRCm39) |
K287E |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,356,497 (GRCm39) |
H425L |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,355,084 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
G |
A |
2: 22,434,494 (GRCm39) |
W825* |
probably null |
Het |
| Npas2 |
T |
C |
1: 39,326,565 (GRCm39) |
S17P |
probably damaging |
Het |
| Nrk |
A |
G |
X: 137,892,817 (GRCm39) |
I1174V |
probably benign |
Het |
| Or1e32 |
A |
G |
11: 73,705,143 (GRCm39) |
I255T |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,013,337 (GRCm39) |
Y256* |
probably null |
Het |
| Or4k2 |
G |
A |
14: 50,423,889 (GRCm39) |
Q262* |
probably null |
Het |
| Parpbp |
A |
G |
10: 87,947,456 (GRCm39) |
|
probably null |
Het |
| Pcdh10 |
T |
C |
3: 45,334,448 (GRCm39) |
V254A |
possibly damaging |
Het |
| Plod1 |
C |
T |
4: 147,997,778 (GRCm39) |
V644I |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,813,704 (GRCm39) |
V149A |
probably benign |
Het |
| Rassf4 |
T |
C |
6: 116,615,209 (GRCm39) |
E320G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,152,936 (GRCm39) |
D448E |
possibly damaging |
Het |
| Rnf32 |
C |
T |
5: 29,411,710 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
T |
A |
11: 75,203,628 (GRCm39) |
D358V |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,742,668 (GRCm39) |
N747S |
probably damaging |
Het |
| Slc17a4 |
A |
C |
13: 24,089,407 (GRCm39) |
M170R |
probably damaging |
Het |
| Slc5a4a |
G |
A |
10: 76,006,527 (GRCm39) |
V310M |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,974,779 (GRCm39) |
R463H |
probably benign |
Het |
| Spmip5 |
A |
T |
19: 58,777,552 (GRCm39) |
V78E |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Syt10 |
A |
G |
15: 89,698,682 (GRCm39) |
S221P |
probably benign |
Het |
| Tlk1 |
T |
A |
2: 70,551,935 (GRCm39) |
K579* |
probably null |
Het |
| Tubgcp3 |
T |
C |
8: 12,682,300 (GRCm39) |
Y673C |
probably damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,165 (GRCm39) |
F253S |
probably damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,304,832 (GRCm39) |
M14T |
probably benign |
Het |
| Zfp59 |
A |
G |
7: 27,552,821 (GRCm39) |
D91G |
probably benign |
Het |
|
| Other mutations in Kif17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation