Incidental Mutation 'R5247:Kif15'
| ID |
486808 |
| 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 |
042818-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5247 (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 C
at 122815507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 434
(S434P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000213745]
[ENSMUST00000214652]
|
| AlphaFold |
Q6P9L6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040717
AA Change: S434P
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768
AA Change: S434P
| 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 |
possibly damaging
Transcript: ENSMUST00000214652
AA Change: S206P
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217415
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankar |
A |
T |
1: 72,719,343 (GRCm39) |
V502E |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,874 (GRCm39) |
L585* |
probably null |
Het |
| Atp6v0a2 |
T |
C |
5: 124,790,241 (GRCm39) |
S475P |
probably damaging |
Het |
| Cacng1 |
T |
C |
11: 107,607,105 (GRCm39) |
H38R |
probably benign |
Het |
| Ccdc168 |
A |
C |
1: 44,096,166 (GRCm39) |
L1644* |
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,304,946 (GRCm39) |
V2168A |
probably benign |
Het |
| Cnot4 |
C |
T |
6: 35,028,351 (GRCm39) |
V422I |
probably damaging |
Het |
| Col1a1 |
T |
C |
11: 94,838,013 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
A |
T |
13: 113,455,993 (GRCm39) |
I680F |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,955,402 (GRCm39) |
C287S |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,473,401 (GRCm39) |
D133E |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,404,524 (GRCm39) |
L52P |
probably damaging |
Het |
| Fam98c |
T |
C |
7: 28,855,126 (GRCm39) |
E99G |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,648,794 (GRCm39) |
I1574L |
probably benign |
Het |
| Gabrb3 |
T |
A |
7: 57,240,339 (GRCm39) |
L8Q |
possibly damaging |
Het |
| Hck |
A |
T |
2: 152,976,615 (GRCm39) |
K250* |
probably null |
Het |
| Herc1 |
A |
G |
9: 66,341,833 (GRCm39) |
E1874G |
probably benign |
Het |
| Igf2 |
G |
T |
7: 142,207,668 (GRCm39) |
A143D |
possibly damaging |
Het |
| Isg20l2 |
A |
G |
3: 87,838,920 (GRCm39) |
N44D |
possibly damaging |
Het |
| Kdm7a |
T |
A |
6: 39,121,390 (GRCm39) |
Q855L |
probably benign |
Het |
| Klrc3 |
A |
T |
6: 129,618,425 (GRCm39) |
N119K |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,203,706 (GRCm39) |
M375V |
unknown |
Het |
| Lpcat4 |
A |
G |
2: 112,072,860 (GRCm39) |
H173R |
possibly damaging |
Het |
| Mapk13 |
A |
T |
17: 28,996,725 (GRCm39) |
Q264L |
probably benign |
Het |
| Mrps18c |
C |
G |
5: 100,946,659 (GRCm39) |
C8W |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nlrp4b |
T |
A |
7: 10,448,145 (GRCm39) |
I116N |
probably benign |
Het |
| Or10h1 |
A |
G |
17: 33,418,504 (GRCm39) |
T161A |
probably benign |
Het |
| Or5b124 |
T |
A |
19: 13,610,778 (GRCm39) |
F101Y |
probably damaging |
Het |
| Prdm1 |
A |
T |
10: 44,316,098 (GRCm39) |
H679Q |
probably damaging |
Het |
| Prickle2 |
T |
A |
6: 92,352,950 (GRCm39) |
S839C |
probably damaging |
Het |
| Rps19 |
T |
A |
7: 24,584,878 (GRCm39) |
S36T |
probably damaging |
Het |
| Serpinb1a |
T |
A |
13: 33,034,389 (GRCm39) |
M1L |
probably damaging |
Het |
| Slc16a7 |
A |
T |
10: 125,067,183 (GRCm39) |
M152K |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Stx18 |
A |
T |
5: 38,263,977 (GRCm39) |
Y141F |
probably damaging |
Het |
| Tgfb2 |
A |
T |
1: 186,382,111 (GRCm39) |
|
probably null |
Het |
| Tle7 |
T |
C |
8: 110,837,209 (GRCm39) |
F299S |
probably damaging |
Het |
| Tmem151b |
A |
T |
17: 45,856,571 (GRCm39) |
Y290N |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,558,766 (GRCm39) |
T29705M |
probably damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
G |
9: 108,373,264 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ACGGGATTCAGAACATCTTGTAC -3'
(R):5'- TCCTAGAAACACAGAGGTAGGCTG -3'
Sequencing Primer
(F):5'- GGGATTCAGAACATCTTGTACTTTAG -3'
(R):5'- ACACAGAGGTAGGCTGCACTC -3'
|
| Posted On |
2017-08-17 |
Incidental Mutation