Incidental Mutation 'R9044:Kif15'
ID |
687932 |
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 |
068871-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9044 (G1)
|
Quality Score |
178.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122840781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 23
(T23A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000216048]
[ENSMUST00000216062]
|
AlphaFold |
Q6P9L6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040717
|
SMART Domains |
Protein: ENSMUSP00000035490 Gene: ENSMUSG00000036768
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: ENSMUST00000214311
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216048
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216062
AA Change: T23A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
Validation Efficiency |
95% (62/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
A |
T |
10: 78,902,314 (GRCm39) |
Y667* |
probably null |
Het |
Acacb |
A |
G |
5: 114,373,578 (GRCm39) |
H1869R |
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,441,748 (GRCm39) |
T950A |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,673,735 (GRCm39) |
L3110Q |
probably damaging |
Het |
Ambra1 |
A |
T |
2: 91,740,434 (GRCm39) |
|
probably benign |
Het |
Brpf3 |
A |
T |
17: 29,025,871 (GRCm39) |
N315Y |
possibly damaging |
Het |
Clxn |
A |
G |
16: 14,738,261 (GRCm39) |
D142G |
probably damaging |
Het |
Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
Cyba |
T |
A |
8: 123,151,630 (GRCm39) |
D189V |
probably benign |
Het |
Dexi |
A |
G |
16: 10,321,385 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,420,247 (GRCm39) |
V156I |
probably benign |
Het |
Drc7 |
T |
C |
8: 95,797,077 (GRCm39) |
V420A |
probably damaging |
Het |
Eef2k |
T |
A |
7: 120,479,584 (GRCm39) |
V167E |
probably damaging |
Het |
Eid2 |
T |
C |
7: 27,968,038 (GRCm39) |
I220T |
possibly damaging |
Het |
Fggy |
A |
C |
4: 95,732,334 (GRCm39) |
T442P |
probably benign |
Het |
Foxi3 |
T |
G |
6: 70,933,683 (GRCm39) |
S57A |
probably benign |
Het |
Foxi3 |
T |
A |
6: 70,934,186 (GRCm39) |
|
probably null |
Het |
Galntl5 |
C |
T |
5: 25,415,326 (GRCm39) |
P286S |
possibly damaging |
Het |
Gm5592 |
A |
G |
7: 40,938,274 (GRCm39) |
K519E |
probably benign |
Het |
Gse1 |
T |
A |
8: 120,957,269 (GRCm39) |
S587T |
unknown |
Het |
Kcns1 |
G |
T |
2: 164,009,996 (GRCm39) |
F254L |
probably damaging |
Het |
Kif16b |
T |
C |
2: 142,541,577 (GRCm39) |
Q1241R |
possibly damaging |
Het |
Lck |
A |
T |
4: 129,450,098 (GRCm39) |
L205Q |
probably damaging |
Het |
Map9 |
C |
T |
3: 82,287,525 (GRCm39) |
A420V |
possibly damaging |
Het |
Mdm2 |
A |
T |
10: 117,530,960 (GRCm39) |
D170E |
|
Het |
Mllt6 |
T |
A |
11: 97,554,485 (GRCm39) |
C30S |
probably damaging |
Het |
Muc5b |
T |
G |
7: 141,411,795 (GRCm39) |
D1580E |
unknown |
Het |
Oaf |
C |
T |
9: 43,135,308 (GRCm39) |
A157T |
probably damaging |
Het |
Or13a19 |
A |
G |
7: 139,902,485 (GRCm39) |
|
probably benign |
Het |
Or2ab1 |
T |
A |
11: 58,489,126 (GRCm39) |
N295K |
possibly damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Osbp2 |
T |
C |
11: 3,667,128 (GRCm39) |
I8V |
probably damaging |
Het |
Pcdh9 |
T |
C |
14: 94,124,247 (GRCm39) |
Y641C |
probably damaging |
Het |
Phf10 |
A |
T |
17: 15,166,584 (GRCm39) |
C429S |
probably damaging |
Het |
Plekha6 |
C |
G |
1: 133,201,687 (GRCm39) |
P367A |
probably benign |
Het |
Plekha6 |
C |
A |
1: 133,201,688 (GRCm39) |
P367Q |
possibly damaging |
Het |
Plod2 |
T |
A |
9: 92,489,273 (GRCm39) |
I756K |
probably damaging |
Het |
Plxnb2 |
C |
A |
15: 89,044,566 (GRCm39) |
|
probably benign |
Het |
Pop1 |
T |
A |
15: 34,530,554 (GRCm39) |
M1014K |
possibly damaging |
Het |
Prrt4 |
T |
C |
6: 29,171,540 (GRCm39) |
D304G |
probably benign |
Het |
Rcan2 |
C |
A |
17: 44,147,245 (GRCm39) |
L28I |
probably benign |
Het |
Rffl |
C |
T |
11: 82,701,020 (GRCm39) |
V269I |
probably benign |
Het |
Rhox3c |
C |
T |
X: 36,651,303 (GRCm39) |
|
probably benign |
Het |
Ric1 |
C |
T |
19: 29,577,294 (GRCm39) |
A1066V |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,752,989 (GRCm39) |
Y1777* |
probably null |
Het |
Scart2 |
G |
T |
7: 139,828,010 (GRCm39) |
G73C |
probably damaging |
Het |
Sh3tc1 |
T |
G |
5: 35,854,834 (GRCm39) |
K1288Q |
possibly damaging |
Het |
Slc10a5 |
A |
C |
3: 10,399,792 (GRCm39) |
I289M |
probably damaging |
Het |
Slc16a9 |
A |
G |
10: 70,110,797 (GRCm39) |
T128A |
probably benign |
Het |
Slc7a11 |
T |
C |
3: 50,333,632 (GRCm39) |
H373R |
probably benign |
Het |
Spesp1 |
A |
G |
9: 62,180,623 (GRCm39) |
I95T |
probably benign |
Het |
Sra1 |
C |
T |
18: 36,800,946 (GRCm39) |
V131I |
probably benign |
Het |
Stxbp5l |
A |
G |
16: 37,024,930 (GRCm39) |
V556A |
possibly damaging |
Het |
Sycp2 |
T |
C |
2: 177,989,617 (GRCm39) |
E1414G |
probably damaging |
Het |
Trac |
A |
T |
14: 54,458,148 (GRCm39) |
K57* |
probably null |
Het |
Trps1 |
T |
C |
15: 50,686,003 (GRCm39) |
E724G |
probably benign |
Het |
Tubgcp6 |
T |
G |
15: 88,987,397 (GRCm39) |
D1192A |
possibly damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Vps18 |
T |
G |
2: 119,128,034 (GRCm39) |
I952M |
probably damaging |
Het |
Wdr36 |
T |
C |
18: 32,970,499 (GRCm39) |
F20S |
probably damaging |
Het |
Wdr62 |
C |
A |
7: 29,962,062 (GRCm39) |
R450L |
probably benign |
Het |
Xab2 |
T |
C |
8: 3,668,641 (GRCm39) |
K76E |
probably benign |
Het |
Zpr1 |
A |
G |
9: 46,190,995 (GRCm39) |
D300G |
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 |
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 |
|
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'- AAAATCTACGCCTGGAGTCTC -3'
(R):5'- CAGATGGTACCATATAAGGGCTTTTG -3'
Sequencing Primer
(F):5'- TACGCCTGGAGTCTCAGCAATTAAG -3'
(R):5'- ATACCCTTTTACTATGCTTAATTCCC -3'
|
Posted On |
2021-11-19 |