Incidental Mutation 'R1367:Kif17'
| ID |
156068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif17
|
| Ensembl Gene |
ENSMUSG00000028758 |
| Gene Name |
kinesin family member 17 |
| Synonyms |
5930435E01Rik, Kif17b, N-4 kinesin |
| MMRRC Submission |
039432-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R1367 (G1)
|
| Quality Score |
132 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 138005305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 290
(S290*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030539]
[ENSMUST00000105818]
[ENSMUST00000105821]
|
| AlphaFold |
Q99PW8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030539
AA Change: S290*
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: S290*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
| 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 null
Transcript: ENSMUST00000105821
AA Change: S290*
|
| SMART Domains |
Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: S290*
| 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 |
|
| Meta Mutation Damage Score |
0.9753 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 86.6%
|
| Validation Efficiency |
98% (48/49) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
C |
16: 14,261,250 (GRCm39) |
V676A |
probably damaging |
Het |
| Acvr1b |
T |
C |
15: 101,091,819 (GRCm39) |
L33P |
possibly damaging |
Het |
| Adamts12 |
T |
G |
15: 11,256,980 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,601,819 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 14,990,225 (GRCm39) |
D233E |
probably damaging |
Het |
| Cd209e |
T |
C |
8: 3,899,084 (GRCm39) |
*209W |
probably null |
Het |
| Cebpz |
A |
G |
17: 79,230,742 (GRCm39) |
V825A |
probably benign |
Het |
| Cep170 |
A |
G |
1: 176,563,290 (GRCm39) |
F1575L |
probably damaging |
Het |
| Exoc2 |
A |
T |
13: 31,066,256 (GRCm39) |
Y473* |
probably null |
Het |
| F3 |
A |
G |
3: 121,523,023 (GRCm39) |
T78A |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Gga2 |
G |
A |
7: 121,598,138 (GRCm39) |
R319* |
probably null |
Het |
| Gid8 |
A |
G |
2: 180,355,025 (GRCm39) |
I10M |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,311 (GRCm39) |
W139R |
probably damaging |
Het |
| H2-M1 |
A |
G |
17: 36,982,059 (GRCm39) |
S181P |
probably benign |
Het |
| Hectd3 |
G |
T |
4: 116,854,367 (GRCm39) |
V310L |
probably null |
Het |
| Insyn1 |
G |
T |
9: 58,406,263 (GRCm39) |
D58Y |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,744,028 (GRCm39) |
N1375D |
probably damaging |
Het |
| Lgr4 |
C |
G |
2: 109,821,480 (GRCm39) |
P121A |
probably damaging |
Het |
| Ly75 |
A |
G |
2: 60,124,102 (GRCm39) |
|
probably null |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Nek3 |
T |
C |
8: 22,650,377 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
T |
12: 70,090,703 (GRCm39) |
L904Q |
probably damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,782,018 (GRCm39) |
D405G |
probably benign |
Het |
| Nuak1 |
C |
T |
10: 84,228,192 (GRCm39) |
|
probably benign |
Het |
| Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,341,977 (GRCm39) |
W1113R |
probably damaging |
Het |
| Pms2 |
G |
A |
5: 143,862,731 (GRCm39) |
V613M |
probably damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Pxk |
T |
G |
14: 8,150,915 (GRCm38) |
|
probably null |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,820,119 (GRCm39) |
|
probably benign |
Het |
| Slc41a1 |
A |
G |
1: 131,771,746 (GRCm39) |
T387A |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,254,322 (GRCm39) |
V228A |
probably benign |
Het |
| Slpi |
A |
G |
2: 164,196,787 (GRCm39) |
|
probably benign |
Het |
| Tkfc |
A |
G |
19: 10,570,838 (GRCm39) |
S481P |
probably benign |
Het |
| Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
| Tns3 |
T |
C |
11: 8,398,704 (GRCm39) |
H1216R |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,571,973 (GRCm39) |
S20T |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,366,606 (GRCm39) |
D921E |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,371,774 (GRCm39) |
S967T |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zdhhc23 |
A |
G |
16: 43,794,513 (GRCm39) |
S54P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCGTGCAGGCAAGCTCAAC -3'
(R):5'- AGCAGGGACTTTTCGATGGGAAATC -3'
Sequencing Primer
(F):5'- AGCTCAACCTGGTAGACCTG -3'
(R):5'- TACTCTCGAAGCAGGGCATC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation