Incidental Mutation 'R6312:Kif17'
| ID |
509806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif17
|
| Ensembl Gene |
ENSMUSG00000028758 |
| Gene Name |
kinesin family member 17 |
| Synonyms |
5930435E01Rik, Kif17b, N-4 kinesin |
| MMRRC Submission |
044415-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.214)
|
| Stock # |
R6312 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 138015504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 551
(S551L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030539]
[ENSMUST00000105818]
[ENSMUST00000105821]
|
| AlphaFold |
Q99PW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030539
AA Change: S551L
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: S551L
| 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: S359L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: S359L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,936,541 (GRCm39) |
S472P |
possibly damaging |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,072 (GRCm39) |
H164L |
probably benign |
Het |
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| AC153874.1 |
T |
A |
10: 77,682,961 (GRCm39) |
|
probably benign |
Het |
| Acadvl |
T |
A |
11: 69,902,593 (GRCm39) |
M375L |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arl4d |
T |
C |
11: 101,558,079 (GRCm39) |
*202R |
probably null |
Het |
| B3gat2 |
G |
T |
1: 23,854,548 (GRCm39) |
E83* |
probably null |
Het |
| Bmper |
C |
A |
9: 23,318,087 (GRCm39) |
Q569K |
possibly damaging |
Het |
| C2cd4d |
C |
A |
3: 94,271,742 (GRCm39) |
P336H |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,891,960 (GRCm39) |
S363T |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,644,996 (GRCm39) |
V119A |
probably benign |
Het |
| Cfhr2 |
C |
T |
1: 139,758,817 (GRCm39) |
V78I |
possibly damaging |
Het |
| Crocc2 |
A |
T |
1: 93,143,432 (GRCm39) |
K1345* |
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,702,268 (GRCm39) |
M255T |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,930,669 (GRCm39) |
I834F |
possibly damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,289,671 (GRCm39) |
K205* |
probably null |
Het |
| Epg5 |
T |
A |
18: 78,022,426 (GRCm39) |
D1056E |
possibly damaging |
Het |
| Fam20a |
A |
C |
11: 109,565,456 (GRCm39) |
C452G |
probably damaging |
Het |
| Gnai2 |
A |
T |
9: 107,512,316 (GRCm39) |
V34E |
probably damaging |
Het |
| Gng3 |
A |
G |
19: 8,815,997 (GRCm39) |
V7A |
probably benign |
Het |
| Hdc |
A |
G |
2: 126,449,326 (GRCm39) |
V77A |
possibly damaging |
Het |
| Hint1 |
G |
A |
11: 54,760,816 (GRCm39) |
C85Y |
probably benign |
Het |
| Lgr5 |
A |
G |
10: 115,288,829 (GRCm39) |
L581P |
probably damaging |
Het |
| Lig4 |
G |
T |
8: 10,021,739 (GRCm39) |
N680K |
probably benign |
Het |
| Lipi |
T |
A |
16: 75,370,803 (GRCm39) |
Y138F |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,267,025 (GRCm39) |
G4294E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,866,246 (GRCm39) |
M1165T |
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,396,175 (GRCm39) |
I489T |
possibly damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,119,223 (GRCm39) |
N24I |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,148,821 (GRCm39) |
T143A |
probably benign |
Het |
| Nudt2 |
A |
G |
4: 41,480,386 (GRCm39) |
T90A |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,477 (GRCm39) |
I300L |
probably benign |
Het |
| Or52n20 |
T |
A |
7: 104,320,796 (GRCm39) |
Y296N |
probably damaging |
Het |
| Or8b36 |
GTTT |
GTTTGCTGTTTT |
9: 37,937,842 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TTT |
TTTGCTGATT |
9: 37,937,843 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
T |
TGCTGTTC |
9: 37,937,845 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TTGCTGT |
TTGCTGTCTGCTGT |
9: 37,937,837 (GRCm39) |
|
probably null |
Het |
| Or8k53 |
A |
T |
2: 86,177,925 (GRCm39) |
F62I |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,853,119 (GRCm39) |
V592A |
probably damaging |
Het |
| Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
| Rsf1 |
A |
AGGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rusf1 |
T |
C |
7: 127,872,715 (GRCm39) |
K411R |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,135,457 (GRCm39) |
S381P |
probably benign |
Het |
| Slitrk6 |
A |
G |
14: 110,987,679 (GRCm39) |
L676P |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,434,300 (GRCm39) |
|
probably null |
Het |
| Tectb |
CT |
C |
19: 55,181,094 (GRCm39) |
|
probably null |
Homo |
| Tma16 |
T |
C |
8: 66,934,118 (GRCm39) |
E79G |
probably damaging |
Het |
| Trim14 |
G |
T |
4: 46,507,257 (GRCm39) |
H320N |
probably damaging |
Het |
| Trim63 |
A |
G |
4: 134,053,008 (GRCm39) |
D323G |
probably damaging |
Het |
| Vash2 |
C |
A |
1: 190,690,880 (GRCm39) |
R309L |
probably benign |
Het |
| Vmn1r62 |
G |
A |
7: 5,679,083 (GRCm39) |
V255M |
possibly damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,332,566 (GRCm39) |
|
probably null |
Het |
| Zfp382 |
G |
A |
7: 29,833,963 (GRCm39) |
R538H |
probably damaging |
Het |
| Zfp592 |
T |
A |
7: 80,673,184 (GRCm39) |
D49E |
probably benign |
Het |
| Zfp60 |
T |
C |
7: 27,448,201 (GRCm39) |
C290R |
probably damaging |
Het |
| Zfp69 |
G |
A |
4: 120,806,714 (GRCm39) |
|
probably benign |
Het |
| Zfp790 |
G |
T |
7: 29,527,647 (GRCm39) |
G111W |
probably damaging |
Het |
| Zfp948 |
T |
C |
17: 21,807,429 (GRCm39) |
I207T |
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 |
|
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 |
|
|
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'- CGAGTACTCACCTCCTTTGCAG -3'
(R):5'- AGCAAAAGGATCCTGCAGGC -3'
Sequencing Primer
(F):5'- ACCTCCTTTGCAGTATGAGAC -3'
(R):5'- AGGCTTGCCAGTATCCGCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation