Incidental Mutation 'R7594:Kif17'
| ID |
587610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif17
|
| Ensembl Gene |
ENSMUSG00000028758 |
| Gene Name |
kinesin family member 17 |
| Synonyms |
5930435E01Rik, Kif17b, N-4 kinesin |
| MMRRC Submission |
045670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R7594 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138005236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 267
(L267P)
|
| 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: L267P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: L267P
| 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: L267P
|
| SMART Domains |
Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: L267P
| 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 |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Acsm3 |
A |
G |
7: 119,384,213 (GRCm39) |
|
probably null |
Het |
| Acvr2a |
T |
A |
2: 48,784,749 (GRCm39) |
L345* |
probably null |
Het |
| App |
T |
C |
16: 84,876,890 (GRCm39) |
D167G |
unknown |
Het |
| Arhgef33 |
A |
G |
17: 80,677,734 (GRCm39) |
D427G |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,288,875 (GRCm39) |
S1675P |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,808,935 (GRCm39) |
Y985C |
|
Het |
| AW209491 |
A |
G |
13: 14,811,831 (GRCm39) |
D228G |
probably benign |
Het |
| Casc3 |
G |
A |
11: 98,712,311 (GRCm39) |
A117T |
probably benign |
Het |
| Cass4 |
C |
T |
2: 172,271,568 (GRCm39) |
P645S |
probably benign |
Het |
| Ccar2 |
A |
T |
14: 70,379,243 (GRCm39) |
Y553* |
probably null |
Het |
| Cox16 |
A |
T |
12: 81,521,352 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
A |
T |
19: 37,151,551 (GRCm39) |
V275E |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,316,905 (GRCm39) |
V634A |
probably benign |
Het |
| Dnajb1 |
G |
A |
8: 84,336,473 (GRCm39) |
S81N |
probably benign |
Het |
| Dst |
A |
G |
1: 34,252,094 (GRCm39) |
K2262E |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,422,136 (GRCm39) |
V237A |
probably benign |
Het |
| Fbxo31 |
T |
A |
8: 122,279,107 (GRCm39) |
D460V |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,830,885 (GRCm39) |
C33R |
probably damaging |
Het |
| Gabrg3 |
A |
T |
7: 56,632,443 (GRCm39) |
N168K |
possibly damaging |
Het |
| Ggh |
C |
G |
4: 20,049,833 (GRCm39) |
S88C |
probably damaging |
Het |
| Gm10134 |
T |
C |
2: 28,396,372 (GRCm39) |
M89T |
unknown |
Het |
| Ksr2 |
C |
A |
5: 117,693,131 (GRCm39) |
T193N |
possibly damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,110,564 (GRCm39) |
L428P |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,696,359 (GRCm39) |
L1247F |
probably benign |
Het |
| Med24 |
T |
C |
11: 98,605,923 (GRCm39) |
Y323C |
probably damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,283,665 (GRCm39) |
V339A |
probably benign |
Het |
| Mtus2 |
G |
T |
5: 148,014,216 (GRCm39) |
R336S |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,556,358 (GRCm39) |
T3312A |
unknown |
Het |
| Nacad |
A |
G |
11: 6,552,457 (GRCm39) |
S245P |
probably damaging |
Het |
| Nacc1 |
T |
C |
8: 85,401,631 (GRCm39) |
D394G |
probably damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,365,268 (GRCm39) |
V582A |
probably damaging |
Het |
| Nid2 |
T |
A |
14: 19,818,791 (GRCm39) |
D428E |
probably benign |
Het |
| Or10ag57 |
A |
G |
2: 87,218,613 (GRCm39) |
H188R |
probably damaging |
Het |
| Or4a80 |
T |
A |
2: 89,582,906 (GRCm39) |
T89S |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,880 (GRCm39) |
L3S |
probably benign |
Het |
| Osbpl5 |
A |
T |
7: 143,247,534 (GRCm39) |
L768Q |
probably benign |
Het |
| Plch2 |
C |
T |
4: 155,091,484 (GRCm39) |
V210I |
probably damaging |
Het |
| Plekhh1 |
C |
T |
12: 79,123,277 (GRCm39) |
T1153I |
possibly damaging |
Het |
| Ppp1r14c |
T |
C |
10: 3,316,670 (GRCm39) |
S2P |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,286 (GRCm39) |
I69N |
probably damaging |
Het |
| Psmd5 |
G |
T |
2: 34,750,741 (GRCm39) |
H239Q |
probably benign |
Het |
| Ptcd2 |
C |
A |
13: 99,456,790 (GRCm39) |
A345S |
possibly damaging |
Het |
| Sap30l |
G |
A |
11: 57,700,947 (GRCm39) |
|
probably null |
Het |
| Sec14l2 |
A |
G |
11: 4,061,213 (GRCm39) |
Y83H |
probably damaging |
Het |
| Slc2a9 |
A |
G |
5: 38,508,634 (GRCm39) |
I470T |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,165,190 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,601,432 (GRCm39) |
D1766E |
probably benign |
Het |
| Tlr12 |
T |
C |
4: 128,511,473 (GRCm39) |
E259G |
probably benign |
Het |
| Tlr6 |
T |
C |
5: 65,110,594 (GRCm39) |
Y771C |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,508 (GRCm39) |
V670E |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,428,587 (GRCm38) |
T1522A |
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,694,595 (GRCm39) |
M158T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,557,186 (GRCm39) |
I29940V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,581,698 (GRCm39) |
T23065I |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,173,779 (GRCm39) |
S20G |
probably benign |
Het |
| Uts2r |
G |
T |
11: 121,052,191 (GRCm39) |
V352F |
possibly damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,342 (GRCm39) |
M202K |
possibly damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,580,635 (GRCm39) |
V524A |
probably benign |
Het |
| Zc3h12d |
C |
A |
10: 7,738,382 (GRCm39) |
D229E |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,810,311 (GRCm39) |
D116G |
probably damaging |
Het |
| Zfp971 |
A |
G |
2: 177,675,793 (GRCm39) |
E464G |
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 |
|
|
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 |
|
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'- GATAGGCTCAAATGTATCCCCAGG -3'
(R):5'- AGCGTACTGAGGGTCTCATC -3'
Sequencing Primer
(F):5'- TCTTAGAAAGATGTGGGGCTCACC -3'
(R):5'- ACTGAGGGTCTCATCGTAATTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation