Incidental Mutation 'R5927:Kif15'
ID |
459959 |
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 |
044122-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5927 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122846326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 76
(S76G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000084733]
[ENSMUST00000213514]
[ENSMUST00000216062]
[ENSMUST00000216048]
[ENSMUST00000214785]
|
AlphaFold |
Q6P9L6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040717
AA Change: S1275G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000035490 Gene: ENSMUSG00000036768 AA Change: S1275G
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: ENSMUST00000084733
|
SMART Domains |
Protein: ENSMUSP00000081784 Gene: ENSMUSG00000066233
Domain | Start | End | E-Value | Type |
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
transmembrane domain
|
127 |
144 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213514
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213945
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214077
|
Predicted Effect |
unknown
Transcript: ENSMUST00000214311
AA Change: S144G
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216062
AA Change: S76G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216048
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217036
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217077
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217612
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214785
|
Meta Mutation Damage Score |
0.0617 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (73/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
T |
A |
3: 153,644,745 (GRCm39) |
I60F |
probably damaging |
Het |
Ankrd26 |
A |
G |
6: 118,484,597 (GRCm39) |
|
probably null |
Het |
Arhgdib |
A |
T |
6: 136,901,136 (GRCm39) |
W198R |
probably damaging |
Het |
Atad5 |
T |
A |
11: 80,018,111 (GRCm39) |
I1354N |
probably damaging |
Het |
Ccdc146 |
T |
A |
5: 21,513,619 (GRCm39) |
K500* |
probably null |
Het |
Cdk11b |
G |
A |
4: 155,732,697 (GRCm39) |
|
probably benign |
Het |
Cmip |
A |
T |
8: 117,984,048 (GRCm39) |
T70S |
possibly damaging |
Het |
Col22a1 |
G |
T |
15: 71,878,815 (GRCm39) |
A114E |
probably damaging |
Het |
Cpeb1 |
T |
C |
7: 81,011,428 (GRCm39) |
D171G |
possibly damaging |
Het |
Crebzf |
C |
T |
7: 90,093,531 (GRCm39) |
|
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
D630036H23Rik |
C |
A |
12: 36,431,671 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,335,864 (GRCm39) |
T2277S |
probably benign |
Het |
Dysf |
T |
A |
6: 84,184,194 (GRCm39) |
F2083Y |
probably damaging |
Het |
Elavl4 |
T |
A |
4: 110,147,440 (GRCm39) |
|
probably benign |
Het |
Elp3 |
A |
G |
14: 65,819,626 (GRCm39) |
Y111H |
probably damaging |
Het |
Eps8l2 |
A |
T |
7: 140,936,259 (GRCm39) |
Q243L |
probably benign |
Het |
Eri2 |
C |
A |
7: 119,385,291 (GRCm39) |
L403F |
probably damaging |
Het |
Fgfr4 |
T |
A |
13: 55,314,700 (GRCm39) |
N614K |
probably damaging |
Het |
Gm5108 |
T |
G |
5: 68,134,214 (GRCm39) |
I74S |
unknown |
Het |
Gpn1 |
T |
C |
5: 31,658,235 (GRCm39) |
F130L |
probably damaging |
Het |
Gpr176 |
T |
A |
2: 118,203,521 (GRCm39) |
I50F |
probably benign |
Het |
Gramd1a |
A |
G |
7: 30,839,246 (GRCm39) |
S221P |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,954,305 (GRCm39) |
T874A |
possibly damaging |
Het |
Igkv12-40 |
A |
G |
6: 69,856,383 (GRCm39) |
|
noncoding transcript |
Het |
Itgb2 |
C |
A |
10: 77,381,868 (GRCm39) |
P57T |
probably damaging |
Het |
Kcmf1 |
T |
A |
6: 72,819,988 (GRCm39) |
D286V |
possibly damaging |
Het |
Kcnt1 |
T |
A |
2: 25,799,388 (GRCm39) |
|
probably benign |
Het |
Kpna3 |
C |
T |
14: 61,622,096 (GRCm39) |
V223I |
probably damaging |
Het |
Krt80 |
A |
G |
15: 101,262,089 (GRCm39) |
|
probably benign |
Het |
Lama4 |
A |
G |
10: 38,948,808 (GRCm39) |
Y857C |
probably damaging |
Het |
Lcorl |
G |
T |
5: 45,882,766 (GRCm39) |
|
probably benign |
Het |
Map4k3 |
A |
G |
17: 80,921,348 (GRCm39) |
V528A |
probably benign |
Het |
Mmp8 |
T |
A |
9: 7,563,203 (GRCm39) |
N255K |
possibly damaging |
Het |
Npat |
A |
T |
9: 53,473,521 (GRCm39) |
K438* |
probably null |
Het |
Or4a73 |
T |
A |
2: 89,421,444 (GRCm39) |
N5I |
possibly damaging |
Het |
P4htm |
T |
C |
9: 108,474,582 (GRCm39) |
Y61C |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,340,972 (GRCm39) |
Y692H |
probably benign |
Het |
Polr3h |
G |
T |
15: 81,801,480 (GRCm39) |
|
probably null |
Het |
Prlr |
C |
T |
15: 10,322,532 (GRCm39) |
T176I |
probably benign |
Het |
Psme4 |
T |
G |
11: 30,754,294 (GRCm39) |
F184V |
possibly damaging |
Het |
Ptgfrn |
A |
T |
3: 100,967,968 (GRCm39) |
F542I |
possibly damaging |
Het |
Rock1 |
T |
C |
18: 10,116,792 (GRCm39) |
E448G |
probably damaging |
Het |
Rpf1 |
A |
T |
3: 146,225,218 (GRCm39) |
|
probably null |
Het |
Sectm1b |
T |
C |
11: 120,946,500 (GRCm39) |
I132V |
probably benign |
Het |
Sestd1 |
T |
A |
2: 77,017,503 (GRCm39) |
H688L |
probably benign |
Het |
Sidt2 |
T |
C |
9: 45,855,752 (GRCm39) |
Y530C |
probably damaging |
Het |
Sin3a |
A |
T |
9: 57,018,395 (GRCm39) |
K938M |
probably damaging |
Het |
Sin3b |
C |
A |
8: 73,476,506 (GRCm39) |
R647S |
probably benign |
Het |
Slc16a14 |
T |
C |
1: 84,889,988 (GRCm39) |
H439R |
possibly damaging |
Het |
Stc1 |
T |
C |
14: 69,269,822 (GRCm39) |
V134A |
probably benign |
Het |
Stk11ip |
G |
A |
1: 75,501,335 (GRCm39) |
V24I |
possibly damaging |
Het |
Tbx6 |
G |
A |
7: 126,384,025 (GRCm39) |
A359T |
possibly damaging |
Het |
Thra |
G |
A |
11: 98,654,514 (GRCm39) |
V295I |
possibly damaging |
Het |
Tnr |
T |
C |
1: 159,740,336 (GRCm39) |
M1170T |
probably damaging |
Het |
Tpcn2 |
T |
A |
7: 144,832,521 (GRCm39) |
I112F |
probably damaging |
Het |
Trdv2-2 |
T |
C |
14: 54,198,998 (GRCm39) |
L96P |
probably damaging |
Het |
Trim24 |
T |
A |
6: 37,935,504 (GRCm39) |
W832R |
probably damaging |
Het |
Usp4 |
T |
G |
9: 108,268,959 (GRCm39) |
S891A |
probably benign |
Het |
Vmn1r88 |
A |
T |
7: 12,912,440 (GRCm39) |
R265S |
probably benign |
Het |
Vmn2r118 |
A |
G |
17: 55,931,494 (GRCm39) |
L60S |
probably benign |
Het |
Wdr74 |
T |
C |
19: 8,717,197 (GRCm39) |
C220R |
possibly damaging |
Het |
Xpo1 |
A |
T |
11: 23,218,653 (GRCm39) |
|
probably benign |
Het |
Xpo1 |
A |
T |
11: 23,218,656 (GRCm39) |
|
probably benign |
Het |
Zfp850 |
C |
A |
7: 27,689,620 (GRCm39) |
G196V |
probably benign |
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 |
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'- TCACCTAGGTTCAGTCCAGTTC -3'
(R):5'- TCTCTGCACACTAGAGAAACTG -3'
Sequencing Primer
(F):5'- AGGTTCAGTCCAGTTCTAGCTTATGC -3'
(R):5'- GTATTTCTACATAGCATGGAAAACCC -3'
|
Posted On |
2017-02-28 |