Incidental Mutation 'R9490:Kif15'
| ID |
716894 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9490 (G1)
|
| Quality Score |
158.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122788203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 14
(N14S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000213745]
[ENSMUST00000214652]
[ENSMUST00000216388]
[ENSMUST00000217401]
|
| AlphaFold |
Q6P9L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040717
AA Change: N14S
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768
AA Change: N14S
| 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
AA Change: N14S
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214652
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216388
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217401
AA Change: N14S
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
A |
G |
10: 79,834,601 (GRCm39) |
D167G |
probably benign |
Het |
| Arhgef37 |
G |
T |
18: 61,641,907 (GRCm39) |
P154Q |
probably damaging |
Het |
| Chsy3 |
A |
T |
18: 59,312,486 (GRCm39) |
S320C |
probably damaging |
Het |
| Col1a2 |
C |
A |
6: 4,505,901 (GRCm39) |
T21K |
unknown |
Het |
| Ctcfl |
A |
T |
2: 172,960,548 (GRCm39) |
Y12N |
probably benign |
Het |
| Cyria |
A |
G |
12: 12,390,727 (GRCm39) |
E13G |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,871,092 (GRCm39) |
Y443H |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,589,582 (GRCm39) |
T492S |
possibly damaging |
Het |
| Edil3 |
G |
A |
13: 89,347,591 (GRCm39) |
C382Y |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,555,416 (GRCm39) |
K1142E |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,723,815 (GRCm39) |
T275S |
possibly damaging |
Het |
| Fstl5 |
T |
C |
3: 76,615,060 (GRCm39) |
V707A |
possibly damaging |
Het |
| Gm7298 |
G |
A |
6: 121,751,083 (GRCm39) |
R720H |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,311,518 (GRCm39) |
T1253S |
probably damaging |
Het |
| Ldhc |
G |
A |
7: 46,519,184 (GRCm39) |
V136I |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,008,501 (GRCm39) |
S134G |
probably benign |
Het |
| Map3k5 |
T |
C |
10: 20,007,797 (GRCm39) |
S1209P |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,986,764 (GRCm39) |
K101E |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,568,149 (GRCm39) |
R1457* |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,425,497 (GRCm39) |
V4714A |
probably benign |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,240 (GRCm39) |
V345A |
probably benign |
Het |
| Phkb |
T |
C |
8: 86,628,525 (GRCm39) |
F170S |
probably damaging |
Het |
| Pip5kl1 |
C |
T |
2: 32,466,667 (GRCm39) |
P12L |
probably benign |
Het |
| Pramel14 |
T |
A |
4: 143,719,606 (GRCm39) |
N253I |
probably benign |
Het |
| Prmt2 |
G |
A |
10: 76,053,227 (GRCm39) |
P263S |
probably damaging |
Het |
| Rab44 |
C |
T |
17: 29,354,065 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
C |
T |
19: 4,247,547 (GRCm39) |
G200R |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,350 (GRCm39) |
T1354A |
probably benign |
Het |
| Rere |
A |
G |
4: 150,516,040 (GRCm39) |
D111G |
probably benign |
Het |
| Rnase2b |
A |
T |
14: 51,400,284 (GRCm39) |
T122S |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc26a2 |
C |
G |
18: 61,331,881 (GRCm39) |
V517L |
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,961,641 (GRCm39) |
K195R |
probably benign |
Het |
| Tgm7 |
T |
A |
2: 120,928,867 (GRCm39) |
D343V |
probably damaging |
Het |
| Tmf1 |
T |
C |
6: 97,137,227 (GRCm39) |
T910A |
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,245,360 (GRCm39) |
V1457A |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,078,716 (GRCm39) |
V862A |
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 |
|
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 |
|
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'- GAGCTGACTCTAGATGTCTATGTAAGC -3'
(R):5'- ACGGGAGGCATGCAATTTTC -3'
Sequencing Primer
(F):5'- TAAGCTATGGTAAGATACTGCGGTC -3'
(R):5'- GGGTCACAATCATCTGTAATGGGATC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation