Incidental Mutation 'R5859:Kif17'
| ID |
455049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif17
|
| Ensembl Gene |
ENSMUSG00000028758 |
| Gene Name |
kinesin family member 17 |
| Synonyms |
5930435E01Rik, Kif17b, N-4 kinesin |
| MMRRC Submission |
044071-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R5859 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 138018744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 461
(M461K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030539]
[ENSMUST00000105818]
[ENSMUST00000105821]
|
| AlphaFold |
Q99PW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030539
AA Change: M698K
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: M698K
| 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: M507K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: M507K
| 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 |
possibly damaging
Transcript: ENSMUST00000105821
AA Change: M461K
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: M461K
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
| Validation Efficiency |
93% (70/75) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,303,477 (GRCm39) |
V150E |
probably benign |
Het |
| Alg11 |
A |
G |
8: 22,555,857 (GRCm39) |
K373E |
probably benign |
Het |
| Arl14ep |
C |
T |
2: 106,799,398 (GRCm39) |
|
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,608,284 (GRCm39) |
G227R |
probably benign |
Het |
| Ash1l |
C |
T |
3: 88,976,300 (GRCm39) |
P2627S |
probably damaging |
Het |
| Btla |
T |
G |
16: 45,059,402 (GRCm39) |
|
probably null |
Het |
| Btnl10 |
C |
T |
11: 58,813,138 (GRCm39) |
P256S |
probably benign |
Het |
| Cep162 |
C |
T |
9: 87,086,145 (GRCm39) |
A1060T |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,852,386 (GRCm39) |
K907* |
probably null |
Het |
| Chpf |
A |
T |
1: 75,452,072 (GRCm39) |
F461I |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,670,114 (GRCm39) |
Y79C |
probably damaging |
Het |
| Copb2 |
G |
A |
9: 98,450,161 (GRCm39) |
C40Y |
probably benign |
Het |
| Cyfip1 |
T |
C |
7: 55,574,929 (GRCm39) |
L1060P |
probably damaging |
Het |
| Drg1 |
G |
A |
11: 3,209,273 (GRCm39) |
|
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,468,134 (GRCm39) |
D862G |
possibly damaging |
Het |
| Flii |
G |
T |
11: 60,607,137 (GRCm39) |
Y946* |
probably null |
Het |
| Glt8d2 |
T |
C |
10: 82,507,915 (GRCm39) |
M1V |
probably null |
Het |
| Gm21136 |
T |
A |
7: 38,567,165 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd1c |
T |
C |
16: 43,812,454 (GRCm39) |
T393A |
possibly damaging |
Het |
| Gucy2d |
T |
A |
7: 98,101,090 (GRCm39) |
I471N |
probably benign |
Het |
| Hps3 |
G |
A |
3: 20,063,034 (GRCm39) |
T711M |
probably benign |
Het |
| Hs3st4 |
A |
T |
7: 123,582,831 (GRCm39) |
D143V |
probably benign |
Het |
| Klhdc7a |
T |
A |
4: 139,694,885 (GRCm39) |
S21C |
probably damaging |
Het |
| Klk15 |
G |
A |
7: 43,587,800 (GRCm39) |
R76H |
probably benign |
Het |
| Lnpk |
G |
A |
2: 74,399,372 (GRCm39) |
T57I |
possibly damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,840,837 (GRCm39) |
V999A |
possibly damaging |
Het |
| Ltbr |
T |
C |
6: 125,289,771 (GRCm39) |
H141R |
probably damaging |
Het |
| Lvrn |
T |
C |
18: 47,026,816 (GRCm39) |
F805L |
probably damaging |
Het |
| Ms4a13 |
A |
T |
19: 11,161,280 (GRCm39) |
C86* |
probably null |
Het |
| Ncbp1 |
A |
G |
4: 46,163,026 (GRCm39) |
N480S |
probably benign |
Het |
| Nelfcd |
T |
G |
2: 174,268,856 (GRCm39) |
*592G |
probably null |
Het |
| Neurog2 |
T |
C |
3: 127,427,664 (GRCm39) |
V96A |
probably benign |
Het |
| Nod1 |
A |
T |
6: 54,907,162 (GRCm39) |
W902R |
probably benign |
Het |
| Or12d13 |
T |
C |
17: 37,647,260 (GRCm39) |
I288V |
possibly damaging |
Het |
| Or4k15c |
T |
A |
14: 50,321,484 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or55b3 |
T |
C |
7: 102,126,957 (GRCm39) |
Y40C |
possibly damaging |
Het |
| Or6d13 |
T |
C |
6: 116,517,861 (GRCm39) |
L149P |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,140,336 (GRCm39) |
H655L |
probably damaging |
Het |
| Plpp7 |
A |
G |
2: 31,985,996 (GRCm39) |
E58G |
probably benign |
Het |
| Psph |
A |
T |
5: 129,867,685 (GRCm39) |
|
probably benign |
Het |
| Rab11fip1 |
A |
C |
8: 27,644,748 (GRCm39) |
S346A |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,131,384 (GRCm39) |
P1513T |
probably benign |
Het |
| Rreb1 |
C |
T |
13: 38,131,385 (GRCm39) |
P1513L |
probably benign |
Het |
| Rsf1 |
C |
T |
7: 97,334,766 (GRCm39) |
R1300C |
probably damaging |
Het |
| Scap |
A |
G |
9: 110,203,115 (GRCm39) |
N263S |
probably benign |
Het |
| Sec24d |
A |
T |
3: 123,072,961 (GRCm39) |
|
probably benign |
Het |
| Slain2 |
T |
C |
5: 73,105,888 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
G |
T |
13: 73,816,278 (GRCm39) |
T367N |
probably benign |
Het |
| Slk |
T |
A |
19: 47,597,481 (GRCm39) |
D96E |
probably benign |
Het |
| Spag5 |
G |
A |
11: 78,204,360 (GRCm39) |
V514I |
probably benign |
Het |
| St8sia2 |
T |
C |
7: 73,616,654 (GRCm39) |
D107G |
probably damaging |
Het |
| Tgfbr3 |
T |
A |
5: 107,288,381 (GRCm39) |
I427F |
probably benign |
Het |
| Tlr2 |
T |
G |
3: 83,743,810 (GRCm39) |
T758P |
possibly damaging |
Het |
| Tmem270 |
A |
G |
5: 134,931,738 (GRCm39) |
V68A |
probably benign |
Het |
| Vmn2r106 |
T |
A |
17: 20,505,583 (GRCm39) |
H37L |
possibly damaging |
Het |
| Vmn2r27 |
T |
G |
6: 124,177,647 (GRCm39) |
R452S |
probably damaging |
Het |
| Wdr5 |
A |
G |
2: 27,423,362 (GRCm39) |
Y252C |
probably damaging |
Het |
| Zswim9 |
C |
T |
7: 12,995,371 (GRCm39) |
V262M |
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 |
|
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'- CGTGCACATTGGGTTTTAGAC -3'
(R):5'- CAACCTTGACCAGGGTTCTTC -3'
Sequencing Primer
(F):5'- TTAGGGATGCTCGGCCTGC -3'
(R):5'- TGACCCCTGACCCCTGGTAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation