Incidental Mutation 'R5376:Kif15'
ID |
425566 |
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 |
042952-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5376 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 122823036 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 700
(N700K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000214652]
|
AlphaFold |
Q6P9L6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040717
AA Change: N700K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000035490 Gene: ENSMUSG00000036768 AA Change: N700K
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 |
noncoding transcript
Transcript: ENSMUST00000214183
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214652
AA Change: N472K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214880
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216491
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217243
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
G |
C |
11: 119,902,860 (GRCm39) |
S512W |
probably damaging |
Het |
Abcc2 |
A |
T |
19: 43,818,339 (GRCm39) |
N1275I |
possibly damaging |
Het |
Adgb |
T |
C |
10: 10,222,307 (GRCm39) |
T1455A |
probably benign |
Het |
Cnnm3 |
T |
A |
1: 36,559,759 (GRCm39) |
L566H |
probably damaging |
Het |
Coa8 |
A |
G |
12: 111,696,492 (GRCm39) |
D142G |
probably damaging |
Het |
Dennd4b |
C |
T |
3: 90,185,363 (GRCm39) |
P1229L |
probably benign |
Het |
Dsc1 |
T |
G |
18: 20,221,503 (GRCm39) |
K657N |
probably benign |
Het |
Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
Eef1d |
G |
T |
15: 75,775,038 (GRCm39) |
T207N |
probably benign |
Het |
Eif4g1 |
T |
A |
16: 20,502,577 (GRCm39) |
Y955N |
probably damaging |
Het |
Evi5l |
T |
C |
8: 4,260,770 (GRCm39) |
T1016A |
probably damaging |
Het |
Fcrl6 |
G |
A |
1: 172,426,847 (GRCm39) |
T33M |
probably damaging |
Het |
Golga3 |
T |
C |
5: 110,368,811 (GRCm39) |
|
probably null |
Het |
Gpbp1 |
T |
C |
13: 111,563,176 (GRCm39) |
N425D |
probably damaging |
Het |
Igkv12-46 |
A |
C |
6: 69,741,520 (GRCm39) |
W112G |
probably benign |
Het |
Kdelr3 |
T |
A |
15: 79,410,061 (GRCm39) |
V182E |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,479,868 (GRCm39) |
L1169* |
probably null |
Het |
Myof |
A |
G |
19: 37,904,848 (GRCm39) |
Y905H |
probably damaging |
Het |
Or10h1b |
A |
T |
17: 33,395,621 (GRCm39) |
I82F |
probably damaging |
Het |
Or52e5 |
A |
T |
7: 104,719,564 (GRCm39) |
T297S |
probably damaging |
Het |
Or5b113 |
A |
T |
19: 13,342,762 (GRCm39) |
M257L |
possibly damaging |
Het |
Otud7b |
T |
A |
3: 96,060,841 (GRCm39) |
|
probably null |
Het |
Pde4d |
T |
C |
13: 109,909,178 (GRCm39) |
C197R |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,162,654 (GRCm39) |
T823A |
probably benign |
Het |
Plekha5 |
C |
T |
6: 140,496,870 (GRCm39) |
T140M |
probably damaging |
Het |
Plekhg2 |
G |
A |
7: 28,062,094 (GRCm39) |
R594W |
probably damaging |
Het |
Potefam1 |
T |
C |
2: 111,045,944 (GRCm39) |
D286G |
probably benign |
Het |
Ppp2r1b |
C |
T |
9: 50,778,228 (GRCm39) |
A315V |
possibly damaging |
Het |
Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
Psg26 |
A |
T |
7: 18,214,030 (GRCm39) |
S211T |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGT |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
Slc5a9 |
A |
T |
4: 111,750,414 (GRCm39) |
V148E |
possibly damaging |
Het |
Spmip9 |
C |
A |
6: 70,890,466 (GRCm39) |
A109S |
possibly damaging |
Het |
Txndc15 |
T |
G |
13: 55,866,032 (GRCm39) |
N165K |
probably damaging |
Het |
Zfp493 |
T |
C |
13: 67,934,437 (GRCm39) |
I130T |
possibly 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 |
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 |
R6435:Kif15
|
UTSW |
9 |
122,815,556 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GAATACATCCTCTTGATAAACTGATGA -3'
(R):5'- CAGACAAGTCCAAAACCTTTATATACG -3'
Sequencing Primer
(F):5'- CACTCCAACCAAGGCTTAT -3'
(R):5'- GTCCAAAACCTTTATATACGCAAAC -3'
|
Posted On |
2016-08-04 |