Incidental Mutation 'IGL00973:Kif17'
| ID |
27338 |
| 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 # |
IGL00973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138002368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 91
(T91A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030539]
[ENSMUST00000105818]
[ENSMUST00000105821]
|
| AlphaFold |
Q99PW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030539
AA Change: T191A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: T191A
| 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 benign
Transcript: ENSMUST00000105818
AA Change: T91A
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: T91A
| 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: T191A
|
| SMART Domains |
Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: T191A
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10a |
G |
T |
7: 58,457,218 (GRCm39) |
D906Y |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,173,882 (GRCm39) |
K32R |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,941,090 (GRCm39) |
A636V |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,245 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,324,758 (GRCm39) |
K374Q |
possibly damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,129,791 (GRCm39) |
R962C |
probably damaging |
Het |
| Frrs1l |
T |
C |
4: 56,972,369 (GRCm39) |
K111E |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,888,951 (GRCm39) |
T184A |
probably benign |
Het |
| Glud1 |
C |
T |
14: 34,041,899 (GRCm39) |
T169I |
probably damaging |
Het |
| Hinfp |
T |
G |
9: 44,209,436 (GRCm39) |
D283A |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,273,833 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
A |
T |
14: 120,106,819 (GRCm39) |
Y409F |
possibly damaging |
Het |
| Ighv15-2 |
A |
T |
12: 114,528,490 (GRCm39) |
V20D |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,911,885 (GRCm39) |
|
probably benign |
Het |
| Myo1e |
C |
T |
9: 70,246,069 (GRCm39) |
T420M |
probably damaging |
Het |
| Or8b12c |
C |
A |
9: 37,716,078 (GRCm39) |
S290R |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,888,593 (GRCm39) |
Y316* |
probably null |
Het |
| Plekha1 |
T |
A |
7: 130,512,743 (GRCm39) |
V313D |
probably damaging |
Het |
| Polr1e |
C |
A |
4: 45,031,364 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,607,367 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
A |
1: 119,669,101 (GRCm39) |
M250L |
probably benign |
Het |
| Rtn1 |
A |
T |
12: 72,455,285 (GRCm39) |
L14Q |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,620,404 (GRCm39) |
|
probably null |
Het |
| Sox7 |
A |
G |
14: 64,185,636 (GRCm39) |
H224R |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,927,027 (GRCm39) |
S862G |
probably benign |
Het |
| Sucla2 |
T |
C |
14: 73,828,347 (GRCm39) |
I318T |
possibly damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,408 (GRCm39) |
|
probably benign |
Het |
| Ube2o |
T |
A |
11: 116,432,031 (GRCm39) |
K940M |
probably damaging |
Het |
| Usp20 |
A |
C |
2: 30,894,962 (GRCm39) |
N149T |
probably damaging |
Het |
| Utp6 |
C |
T |
11: 79,846,531 (GRCm39) |
W150* |
probably null |
Het |
| Wdr27 |
A |
C |
17: 15,134,140 (GRCm39) |
H475Q |
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 |
|
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 |
Incidental Mutation