Incidental Mutation 'R9461:Kif17'
| ID |
714857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif17
|
| Ensembl Gene |
ENSMUSG00000028758 |
| Gene Name |
kinesin family member 17 |
| Synonyms |
5930435E01Rik, Kif17b, N-4 kinesin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R9461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 138005253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 273
(V273I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030539]
[ENSMUST00000105818]
[ENSMUST00000105821]
|
| AlphaFold |
Q99PW8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030539
AA Change: V273I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: V273I
| 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 |
unknown
Transcript: ENSMUST00000105821
AA Change: V273I
|
| SMART Domains |
Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: V273I
| 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: 99.7%
- 20x: 98.9%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Abhd18 |
A |
T |
3: 40,859,319 (GRCm39) |
|
probably null |
Het |
| Aox1 |
G |
A |
1: 58,116,736 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
C |
A |
9: 111,965,704 (GRCm39) |
R422L |
probably damaging |
Het |
| Ccdc190 |
G |
A |
1: 169,761,489 (GRCm39) |
G197D |
probably benign |
Het |
| Cdc42bpa |
G |
T |
1: 179,969,861 (GRCm39) |
L1243F |
probably damaging |
Het |
| Ces2b |
T |
A |
8: 105,564,011 (GRCm39) |
F462I |
probably benign |
Het |
| Cfap45 |
A |
G |
1: 172,362,894 (GRCm39) |
E295G |
possibly damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,186,879 (GRCm39) |
E1227* |
probably null |
Het |
| Col5a1 |
A |
T |
2: 27,922,616 (GRCm39) |
D1717V |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,460,435 (GRCm39) |
S448P |
possibly damaging |
Het |
| Dnajb1 |
T |
C |
8: 84,335,173 (GRCm39) |
|
probably null |
Het |
| Dock9 |
C |
T |
14: 121,842,601 (GRCm39) |
G1223D |
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,765,869 (GRCm39) |
R670G |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,994,668 (GRCm39) |
I738V |
probably benign |
Het |
| Gas2l2 |
T |
A |
11: 83,313,031 (GRCm39) |
R760S |
probably damaging |
Het |
| H1f7 |
C |
T |
15: 98,155,138 (GRCm39) |
A4T |
probably damaging |
Het |
| Klhdc4 |
T |
C |
8: 122,526,224 (GRCm39) |
D336G |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,568 (GRCm39) |
N181S |
probably benign |
Het |
| Lrp8 |
G |
A |
4: 107,700,515 (GRCm39) |
G151D |
possibly damaging |
Het |
| Mb21d2 |
C |
T |
16: 28,647,261 (GRCm39) |
V238M |
probably damaging |
Het |
| Mfsd4b3-ps |
T |
G |
10: 39,823,247 (GRCm39) |
I338L |
probably benign |
Het |
| Nkain2 |
C |
T |
10: 32,766,125 (GRCm39) |
A112T |
unknown |
Het |
| Or14c41 |
T |
A |
7: 86,235,247 (GRCm39) |
Y255N |
possibly damaging |
Het |
| Or52n2b |
T |
A |
7: 104,565,583 (GRCm39) |
I307F |
probably benign |
Het |
| Or5b12b |
T |
A |
19: 12,861,875 (GRCm39) |
V210E |
possibly damaging |
Het |
| Or5i1 |
A |
G |
2: 87,612,883 (GRCm39) |
I2V |
probably benign |
Het |
| Pacs2 |
A |
G |
12: 113,010,727 (GRCm39) |
I126V |
probably benign |
Het |
| Phyhipl |
T |
C |
10: 70,395,243 (GRCm39) |
Y321C |
possibly damaging |
Het |
| Ppm1k |
T |
C |
6: 57,487,720 (GRCm39) |
S368G |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,787,163 (GRCm39) |
D1063G |
possibly damaging |
Het |
| Sars2 |
T |
C |
7: 28,449,438 (GRCm39) |
M322T |
probably benign |
Het |
| Serbp1 |
G |
A |
6: 67,244,313 (GRCm39) |
R78H |
probably benign |
Het |
| Sfxn2 |
T |
A |
19: 46,574,192 (GRCm39) |
N127K |
probably damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,423,898 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
T |
C |
15: 57,108,342 (GRCm39) |
Y491C |
probably damaging |
Het |
| Slc22a22 |
T |
A |
15: 57,127,052 (GRCm39) |
I6F |
probably damaging |
Het |
| Smpd1 |
C |
T |
7: 105,204,789 (GRCm39) |
L223F |
probably damaging |
Het |
| Spem1 |
T |
C |
11: 69,711,741 (GRCm39) |
K308E |
probably benign |
Het |
| Spsb1 |
A |
T |
4: 149,990,907 (GRCm39) |
C220* |
probably null |
Het |
| Syngap1 |
T |
A |
17: 27,173,962 (GRCm39) |
S190R |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,339,719 (GRCm39) |
S705P |
possibly damaging |
Het |
| Tbc1d16 |
G |
T |
11: 119,044,781 (GRCm39) |
F553L |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,910,435 (GRCm39) |
Y55H |
probably damaging |
Het |
| Tmem220 |
T |
C |
11: 66,924,979 (GRCm39) |
I138T |
possibly damaging |
Het |
| Tut7 |
G |
A |
13: 59,963,512 (GRCm39) |
T282I |
probably damaging |
Het |
| Txnl1 |
T |
C |
18: 63,810,050 (GRCm39) |
N131S |
probably benign |
Het |
| Vat1 |
T |
C |
11: 101,353,846 (GRCm39) |
T175A |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,029,066 (GRCm39) |
D651V |
probably benign |
Het |
| Zfp281 |
T |
A |
1: 136,554,500 (GRCm39) |
S493T |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
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 |
|
|
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 |
|
Z1177:Kif17
|
UTSW |
4 |
138,015,241 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTAGAAAGATGTGGGGCTCAC -3'
(R):5'- GGTCTTCATTAATGCGTGGC -3'
Sequencing Primer
(F):5'- GCTCACCCAGCTGTTGC -3'
(R):5'- CTTGGCCCTGTTAGCATAGCG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation