Incidental Mutation 'R5901:Kif17'
| ID |
456312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif17
|
| Ensembl Gene |
ENSMUSG00000028758 |
| Gene Name |
kinesin family member 17 |
| Synonyms |
5930435E01Rik, Kif17b, N-4 kinesin |
| MMRRC Submission |
043239-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R5901 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 138025643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030539]
[ENSMUST00000105818]
[ENSMUST00000105821]
|
| AlphaFold |
Q99PW8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030539
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
| 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 |
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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
T |
A |
11: 99,728,163 (GRCm39) |
S227C |
unknown |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamts15 |
C |
T |
9: 30,813,786 (GRCm39) |
R793H |
probably damaging |
Het |
| Ankra2 |
A |
G |
13: 98,407,644 (GRCm39) |
E38G |
probably damaging |
Het |
| Aqp8 |
G |
A |
7: 123,061,807 (GRCm39) |
C8Y |
probably damaging |
Het |
| Atg9b |
A |
G |
5: 24,597,017 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,735,339 (GRCm39) |
E469G |
possibly damaging |
Het |
| B4gat1 |
T |
A |
19: 5,089,241 (GRCm39) |
Y79* |
probably null |
Het |
| BB019430 |
T |
A |
10: 58,540,014 (GRCm39) |
|
noncoding transcript |
Het |
| Calhm3 |
T |
C |
19: 47,146,052 (GRCm39) |
Y51C |
probably damaging |
Het |
| Ccr2 |
C |
T |
9: 123,906,239 (GRCm39) |
T173I |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,885,538 (GRCm39) |
D359G |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,566,639 (GRCm39) |
E1022G |
possibly damaging |
Het |
| Drd2 |
T |
A |
9: 49,318,259 (GRCm39) |
C400* |
probably null |
Het |
| Efcab7 |
T |
A |
4: 99,766,941 (GRCm39) |
H495Q |
probably damaging |
Het |
| Faim |
T |
C |
9: 98,874,195 (GRCm39) |
V29A |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,526,326 (GRCm39) |
S350P |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,270,285 (GRCm39) |
E152G |
probably benign |
Het |
| Kif24 |
A |
T |
4: 41,428,604 (GRCm39) |
S119T |
probably damaging |
Het |
| Ly6k |
A |
T |
15: 74,670,429 (GRCm39) |
S38T |
probably benign |
Het |
| Mapk10 |
A |
G |
5: 103,061,158 (GRCm39) |
S430P |
probably damaging |
Het |
| Megf10 |
G |
A |
18: 57,410,180 (GRCm39) |
A654T |
probably benign |
Het |
| Mlph |
T |
C |
1: 90,867,536 (GRCm39) |
L450P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,532,323 (GRCm39) |
D1603G |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,116,771 (GRCm39) |
S1580P |
possibly damaging |
Het |
| Rad54b |
G |
A |
4: 11,595,919 (GRCm39) |
R232H |
possibly damaging |
Het |
| Sar1b |
C |
T |
11: 51,670,576 (GRCm39) |
T40I |
possibly damaging |
Het |
| Scyl2 |
C |
T |
10: 89,496,124 (GRCm39) |
S242N |
probably benign |
Het |
| Sema4b |
A |
G |
7: 79,874,715 (GRCm39) |
N702D |
possibly damaging |
Het |
| Slc16a11 |
A |
G |
11: 70,107,172 (GRCm39) |
I394V |
probably benign |
Het |
| Stard9 |
A |
C |
2: 120,531,851 (GRCm39) |
T2703P |
probably damaging |
Het |
| Stat5b |
A |
T |
11: 100,695,733 (GRCm39) |
L83Q |
possibly damaging |
Het |
| Tas2r119 |
T |
A |
15: 32,177,932 (GRCm39) |
V166D |
possibly damaging |
Het |
| Tmem117 |
T |
A |
15: 94,612,839 (GRCm39) |
I125N |
probably benign |
Het |
| Tmem39a |
T |
C |
16: 38,393,568 (GRCm39) |
I89T |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,178,565 (GRCm39) |
H3272Q |
probably damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,591 (GRCm39) |
E223G |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,603,796 (GRCm39) |
V658A |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,410 (GRCm39) |
T1884S |
possibly damaging |
Het |
| Xkr4 |
A |
T |
1: 3,286,901 (GRCm39) |
F430I |
probably damaging |
Het |
| Yae1d1 |
A |
G |
13: 18,164,200 (GRCm39) |
M1T |
probably null |
Het |
| Zfand4 |
T |
C |
6: 116,265,084 (GRCm39) |
V183A |
probably 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 |
|
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 |
|
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'- AGATGTCCAGCACCAAATGG -3'
(R):5'- ATGACCTATTATGTGGCCCCATTTC -3'
Sequencing Primer
(F):5'- TCCCCACAAGCTCTAGGGTC -3'
(R):5'- ATTATGTGGCCCCATTTCTCTGC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation