Incidental Mutation 'R2170:Kif17'
| ID |
237418 |
| Institutional Source |
Beutler Lab
|
| 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: 0.214)
|
| Stock # |
R2170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138015682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 418
(I418M)
|
| 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: I610M
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: I610M
| 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: I418M
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: I418M
| 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 |
probably benign
Transcript: ENSMUST00000105821
|
| SMART Domains |
Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,896 (GRCm39) |
S404P |
probably damaging |
Het |
| 4933434E20Rik |
T |
A |
3: 89,963,611 (GRCm39) |
L89Q |
probably benign |
Het |
| Atxn2l |
T |
A |
7: 126,102,411 (GRCm39) |
|
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,793,680 (GRCm39) |
F89S |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,095,168 (GRCm39) |
S1977T |
probably benign |
Het |
| Ccr1l1 |
C |
A |
9: 123,778,172 (GRCm39) |
V92F |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Chrne |
T |
C |
11: 70,509,323 (GRCm39) |
N86S |
probably damaging |
Het |
| Copg2 |
CCTCATC |
CC |
6: 30,789,757 (GRCm39) |
|
probably null |
Het |
| Elapor2 |
A |
G |
5: 9,529,206 (GRCm39) |
D221G |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,921,984 (GRCm39) |
S21P |
probably benign |
Het |
| Glb1 |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
9: 114,302,873 (GRCm39) |
|
probably benign |
Het |
| Gngt2 |
A |
G |
11: 95,728,071 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,981,956 (GRCm39) |
E135V |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,270,293 (GRCm39) |
A1177T |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,557,773 (GRCm39) |
V272A |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,918,075 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
T |
1: 153,124,888 (GRCm39) |
A628T |
probably benign |
Het |
| Mag |
A |
T |
7: 30,608,412 (GRCm39) |
L234* |
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,366,084 (GRCm39) |
V2080E |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,871,724 (GRCm39) |
D2119G |
probably benign |
Het |
| Ncam1 |
C |
T |
9: 49,709,981 (GRCm39) |
A17T |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,322,702 (GRCm39) |
Y2570H |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,044,861 (GRCm39) |
V129A |
probably damaging |
Het |
| Or14a257 |
T |
A |
7: 86,137,778 (GRCm39) |
H327L |
probably benign |
Het |
| Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
| Podn |
A |
T |
4: 107,879,730 (GRCm39) |
L85Q |
probably damaging |
Het |
| Ppp1r12c |
A |
T |
7: 4,485,805 (GRCm39) |
D680E |
possibly damaging |
Het |
| Prdm14 |
G |
A |
1: 13,192,684 (GRCm39) |
L352F |
probably damaging |
Het |
| Prob1 |
G |
T |
18: 35,787,790 (GRCm39) |
Q155K |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,069,215 (GRCm39) |
L737S |
possibly damaging |
Het |
| Stard5 |
A |
G |
7: 83,282,366 (GRCm39) |
T60A |
probably benign |
Het |
| Syt7 |
A |
G |
19: 10,416,744 (GRCm39) |
K402E |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,171,714 (GRCm39) |
D69V |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,957 (GRCm39) |
F258S |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,284,812 (GRCm39) |
Y19N |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGAAGACTCTGCCACATCAG -3'
(R):5'- GTGTGTCTGACAGAGTATCTCCTC -3'
Sequencing Primer
(F):5'- ACATCAGAGGCCTTCCCTG -3'
(R):5'- AGGGTCCCCAAACAGGTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation