Incidental Mutation 'R8019:Kif17'
| ID |
617255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif17
|
| Ensembl Gene |
ENSMUSG00000028758 |
| Gene Name |
kinesin family member 17 |
| Synonyms |
5930435E01Rik, Kif17b, N-4 kinesin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R8019 (G1)
|
| Quality Score |
149.008 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 138023536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 927
(R927Q)
|
| 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: R927Q
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: R927Q
| 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: R736Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: R736Q
| 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 |
possibly damaging
Transcript: ENSMUST00000105821
AA Change: R690Q
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: R690Q
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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 |
|---|
| 1110065P20Rik |
G |
T |
4: 124,744,469 (GRCm39) |
A51E |
unknown |
Het |
| A2ml1 |
C |
T |
6: 128,558,410 (GRCm39) |
|
probably null |
Het |
| Aimp2 |
G |
A |
5: 143,846,412 (GRCm39) |
A41V |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Bnc2 |
A |
G |
4: 84,329,662 (GRCm39) |
L118P |
|
Het |
| Ccdc18 |
T |
A |
5: 108,376,511 (GRCm39) |
Y1317* |
probably null |
Het |
| Ccdc93 |
C |
T |
1: 121,375,993 (GRCm39) |
T168M |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,614,828 (GRCm39) |
D1292Y |
possibly damaging |
Het |
| Cdh24 |
G |
T |
14: 54,876,089 (GRCm39) |
N184K |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cspg4b |
T |
A |
13: 113,456,157 (GRCm39) |
S734R |
|
Het |
| Efemp2 |
T |
A |
19: 5,527,708 (GRCm39) |
C181* |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,734,174 (GRCm39) |
|
probably null |
Het |
| Elp2 |
G |
A |
18: 24,739,920 (GRCm39) |
V49M |
possibly damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Exph5 |
G |
A |
9: 53,284,752 (GRCm39) |
C611Y |
probably benign |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm9376 |
T |
G |
14: 118,504,951 (GRCm39) |
Y128D |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,698,762 (GRCm39) |
N278I |
probably benign |
Het |
| Hace1 |
C |
T |
10: 45,514,478 (GRCm39) |
T199M |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,321,098 (GRCm39) |
V44A |
|
Het |
| Homez |
A |
C |
14: 55,095,689 (GRCm39) |
D6E |
probably benign |
Het |
| Ighv5-12 |
A |
T |
12: 113,665,792 (GRCm39) |
M102K |
probably damaging |
Het |
| Jup |
T |
C |
11: 100,265,023 (GRCm39) |
T643A |
probably benign |
Het |
| Krt4 |
T |
A |
15: 101,828,722 (GRCm39) |
I381F |
probably damaging |
Het |
| Krt6a |
A |
G |
15: 101,602,304 (GRCm39) |
V127A |
probably damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Mtfr2 |
A |
T |
10: 20,229,900 (GRCm39) |
N153Y |
probably damaging |
Het |
| Npas3 |
G |
A |
12: 54,091,462 (GRCm39) |
V339I |
probably damaging |
Het |
| Nsun2 |
C |
T |
13: 69,775,764 (GRCm39) |
R438C |
probably damaging |
Het |
| Oga |
A |
T |
19: 45,762,107 (GRCm39) |
W249R |
probably damaging |
Het |
| Or4c1 |
T |
A |
2: 89,133,595 (GRCm39) |
I114F |
possibly damaging |
Het |
| Or4k47 |
A |
C |
2: 111,452,412 (GRCm39) |
D2E |
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,577,392 (GRCm39) |
M284K |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,122 (GRCm39) |
R2338G |
probably damaging |
Het |
| Pgm1 |
A |
G |
4: 99,843,875 (GRCm39) |
M553V |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Ppp2r5e |
A |
G |
12: 75,511,703 (GRCm39) |
I340T |
probably damaging |
Het |
| Qprt |
C |
A |
7: 126,707,996 (GRCm39) |
R145L |
probably damaging |
Het |
| Sertad4 |
T |
C |
1: 192,528,829 (GRCm39) |
D329G |
probably benign |
Het |
| Setd2 |
C |
T |
9: 110,431,255 (GRCm39) |
T583M |
|
Het |
| Slc12a7 |
T |
C |
13: 73,947,839 (GRCm39) |
I652T |
probably damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,723,329 (GRCm39) |
D539G |
probably damaging |
Het |
| Slc36a2 |
A |
G |
11: 55,055,095 (GRCm39) |
I320T |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,466,917 (GRCm39) |
Y524H |
probably damaging |
Het |
| Slc6a20a |
T |
A |
9: 123,493,639 (GRCm39) |
S81C |
probably damaging |
Het |
| Srf |
G |
T |
17: 46,866,748 (GRCm39) |
P3T |
unknown |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Stag3 |
T |
C |
5: 138,299,465 (GRCm39) |
M828T |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,651,925 (GRCm39) |
V406A |
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,146,637 (GRCm39) |
P335Q |
probably damaging |
Het |
| Svs5 |
T |
A |
2: 164,175,341 (GRCm39) |
S64R |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,928,013 (GRCm39) |
V130A |
possibly damaging |
Het |
| Tbrg4 |
C |
T |
11: 6,568,517 (GRCm39) |
V421M |
probably damaging |
Het |
| Tbx4 |
G |
T |
11: 85,804,986 (GRCm39) |
K358N |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,353,248 (GRCm39) |
T384S |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,248 (GRCm39) |
H261Q |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,780,095 (GRCm39) |
C372* |
probably null |
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 |
|
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'- CAAGTCCTAACCTGGTGTCC -3'
(R):5'- ACATAGTGGTGGAAACAGGTCC -3'
Sequencing Primer
(F):5'- AGCAGTGGCATCCCTTCC -3'
(R):5'- TGGAAACAGGTCCAGGCTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation