Incidental Mutation 'R6435:Kif15'
ID |
518749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif15
|
Ensembl Gene |
ENSMUSG00000036768 |
Gene Name |
kinesin family member 15 |
Synonyms |
N-10 kinesin, 3930402I10Rik, 3110023M17Rik, HKLP2, Knsl7 |
MMRRC Submission |
044573-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6435 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 122815556 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 222
(E222V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150678
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000213745]
[ENSMUST00000214652]
|
AlphaFold |
Q6P9L6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040717
AA Change: E450V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035490 Gene: ENSMUSG00000036768 AA Change: E450V
Domain | Start | End | E-Value | Type |
KISc
|
24 |
371 |
2.86e-179 |
SMART |
Pfam:Kinesin-relat_1
|
463 |
551 |
6.6e-26 |
PFAM |
coiled coil region
|
579 |
643 |
N/A |
INTRINSIC |
coiled coil region
|
706 |
1037 |
N/A |
INTRINSIC |
coiled coil region
|
1065 |
1133 |
N/A |
INTRINSIC |
Pfam:HMMR_C
|
1265 |
1387 |
3.5e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213745
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214183
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214652
AA Change: E222V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214880
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216491
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217415
|
Meta Mutation Damage Score |
0.1573 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
A |
T |
2: 31,691,561 (GRCm39) |
T1027S |
possibly damaging |
Het |
Ablim1 |
T |
C |
19: 57,049,787 (GRCm39) |
I159V |
possibly damaging |
Het |
Adcy1 |
A |
G |
11: 7,111,367 (GRCm39) |
N886S |
possibly damaging |
Het |
Baz1b |
G |
A |
5: 135,266,799 (GRCm39) |
D1203N |
probably damaging |
Het |
Chmp2a |
A |
T |
7: 12,766,701 (GRCm39) |
Y72* |
probably null |
Het |
Col6a1 |
A |
T |
10: 76,546,957 (GRCm39) |
I755N |
unknown |
Het |
Defa24 |
T |
A |
8: 22,224,690 (GRCm39) |
F46L |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Gcn1 |
A |
T |
5: 115,749,081 (GRCm39) |
|
probably null |
Het |
Gfpt2 |
A |
G |
11: 49,726,478 (GRCm39) |
S628G |
probably benign |
Het |
Hsdl2 |
C |
A |
4: 59,610,668 (GRCm39) |
Q222K |
unknown |
Het |
Ighv1-9 |
T |
A |
12: 114,547,206 (GRCm39) |
I111F |
probably benign |
Het |
Itch |
G |
A |
2: 155,051,049 (GRCm39) |
D579N |
probably benign |
Het |
Jdp2 |
A |
T |
12: 85,655,132 (GRCm39) |
K65M |
probably damaging |
Het |
Map1b |
A |
G |
13: 99,652,871 (GRCm39) |
V42A |
probably damaging |
Het |
Mecom |
T |
A |
3: 30,034,398 (GRCm39) |
E426V |
probably damaging |
Het |
Meiosin |
T |
C |
7: 18,834,844 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
G |
T |
1: 52,748,603 (GRCm39) |
Y87* |
probably null |
Het |
Mybpc2 |
A |
G |
7: 44,155,481 (GRCm39) |
V924A |
possibly damaging |
Het |
Naip6 |
A |
T |
13: 100,431,249 (GRCm39) |
M1196K |
probably benign |
Het |
Nscme3l |
T |
C |
19: 5,553,446 (GRCm39) |
I112V |
probably benign |
Het |
Or52n5 |
A |
G |
7: 104,588,041 (GRCm39) |
M103V |
probably damaging |
Het |
Pcdh9 |
G |
A |
14: 94,125,280 (GRCm39) |
P297S |
probably benign |
Het |
Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
Rgs21 |
A |
G |
1: 144,395,565 (GRCm39) |
F108L |
probably damaging |
Het |
Runx1 |
A |
T |
16: 92,441,183 (GRCm39) |
S209T |
possibly damaging |
Het |
Sdccag8 |
G |
T |
1: 176,642,428 (GRCm39) |
|
probably benign |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Homo |
Tsc1 |
G |
A |
2: 28,566,464 (GRCm39) |
V627M |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp612 |
A |
G |
8: 110,815,952 (GRCm39) |
I347M |
probably damaging |
Het |
|
Other mutations in Kif15 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01459:Kif15
|
APN |
9 |
122,804,820 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01577:Kif15
|
APN |
9 |
122,825,399 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01647:Kif15
|
APN |
9 |
122,792,536 (GRCm39) |
intron |
probably benign |
|
IGL01921:Kif15
|
APN |
9 |
122,808,569 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02040:Kif15
|
APN |
9 |
122,846,450 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02191:Kif15
|
APN |
9 |
122,804,744 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02218:Kif15
|
APN |
9 |
122,824,892 (GRCm39) |
splice site |
probably benign |
|
IGL02537:Kif15
|
APN |
9 |
122,822,914 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02814:Kif15
|
APN |
9 |
122,832,705 (GRCm39) |
missense |
possibly damaging |
0.83 |
PIT4480001:Kif15
|
UTSW |
9 |
122,840,608 (GRCm39) |
missense |
probably benign |
|
R0034:Kif15
|
UTSW |
9 |
122,828,350 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0458:Kif15
|
UTSW |
9 |
122,838,424 (GRCm39) |
missense |
probably benign |
|
R0526:Kif15
|
UTSW |
9 |
122,826,862 (GRCm39) |
missense |
probably damaging |
0.96 |
R0533:Kif15
|
UTSW |
9 |
122,838,498 (GRCm39) |
unclassified |
probably benign |
|
R0726:Kif15
|
UTSW |
9 |
122,788,993 (GRCm39) |
missense |
probably benign |
0.21 |
R1580:Kif15
|
UTSW |
9 |
122,789,021 (GRCm39) |
missense |
probably benign |
0.22 |
R1597:Kif15
|
UTSW |
9 |
122,823,074 (GRCm39) |
missense |
probably benign |
0.22 |
R2096:Kif15
|
UTSW |
9 |
122,815,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R3125:Kif15
|
UTSW |
9 |
122,817,026 (GRCm39) |
missense |
probably damaging |
0.99 |
R3176:Kif15
|
UTSW |
9 |
122,816,905 (GRCm39) |
splice site |
probably benign |
|
R4088:Kif15
|
UTSW |
9 |
122,815,254 (GRCm39) |
missense |
probably benign |
0.29 |
R4308:Kif15
|
UTSW |
9 |
122,843,047 (GRCm39) |
missense |
probably benign |
0.00 |
R4597:Kif15
|
UTSW |
9 |
122,822,914 (GRCm39) |
missense |
probably benign |
0.08 |
R4705:Kif15
|
UTSW |
9 |
122,789,058 (GRCm39) |
splice site |
probably null |
|
R4832:Kif15
|
UTSW |
9 |
122,831,191 (GRCm39) |
splice site |
probably null |
|
R5100:Kif15
|
UTSW |
9 |
122,821,059 (GRCm39) |
missense |
probably damaging |
0.98 |
R5126:Kif15
|
UTSW |
9 |
122,804,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R5180:Kif15
|
UTSW |
9 |
122,828,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R5247:Kif15
|
UTSW |
9 |
122,815,507 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5376:Kif15
|
UTSW |
9 |
122,823,036 (GRCm39) |
missense |
probably benign |
0.04 |
R5392:Kif15
|
UTSW |
9 |
122,825,360 (GRCm39) |
missense |
probably damaging |
0.99 |
R5422:Kif15
|
UTSW |
9 |
122,813,954 (GRCm39) |
splice site |
probably null |
|
R5562:Kif15
|
UTSW |
9 |
122,807,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R5663:Kif15
|
UTSW |
9 |
122,820,916 (GRCm39) |
splice site |
probably null |
|
R5767:Kif15
|
UTSW |
9 |
122,843,039 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5927:Kif15
|
UTSW |
9 |
122,846,326 (GRCm39) |
missense |
probably benign |
0.00 |
R6049:Kif15
|
UTSW |
9 |
122,840,687 (GRCm39) |
missense |
probably damaging |
0.98 |
R7040:Kif15
|
UTSW |
9 |
122,840,679 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7158:Kif15
|
UTSW |
9 |
122,828,379 (GRCm39) |
missense |
probably benign |
|
R7163:Kif15
|
UTSW |
9 |
122,846,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R7197:Kif15
|
UTSW |
9 |
122,838,991 (GRCm39) |
critical splice donor site |
probably null |
|
R7318:Kif15
|
UTSW |
9 |
122,817,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R7360:Kif15
|
UTSW |
9 |
122,820,202 (GRCm39) |
missense |
probably benign |
|
R8039:Kif15
|
UTSW |
9 |
122,836,490 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8228:Kif15
|
UTSW |
9 |
122,821,041 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8549:Kif15
|
UTSW |
9 |
122,815,236 (GRCm39) |
missense |
probably benign |
|
R9001:Kif15
|
UTSW |
9 |
122,826,855 (GRCm39) |
missense |
probably benign |
0.00 |
R9031:Kif15
|
UTSW |
9 |
122,846,492 (GRCm39) |
intron |
probably benign |
|
R9044:Kif15
|
UTSW |
9 |
122,840,781 (GRCm39) |
missense |
probably benign |
0.01 |
R9063:Kif15
|
UTSW |
9 |
122,833,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R9306:Kif15
|
UTSW |
9 |
122,807,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R9490:Kif15
|
UTSW |
9 |
122,788,203 (GRCm39) |
missense |
probably benign |
0.10 |
R9554:Kif15
|
UTSW |
9 |
122,828,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R9682:Kif15
|
UTSW |
9 |
122,815,712 (GRCm39) |
missense |
probably damaging |
0.98 |
R9752:Kif15
|
UTSW |
9 |
122,824,890 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Kif15
|
UTSW |
9 |
122,780,116 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGGTGTAAAACGAAAAGGCTTTC -3'
(R):5'- TAGATGGTGAACACTAGTCACAC -3'
Sequencing Primer
(F):5'- GCTTTCAAAAGTCTTGCCTTTGAG -3'
(R):5'- ACACAGAGGTAGGCTGCACTC -3'
|
Posted On |
2018-05-24 |