Incidental Mutation 'R3125:Kif15'
| ID |
264247 |
| 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 |
040598-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3125 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 122817026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 542
(Q542P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000213745]
[ENSMUST00000214652]
|
| AlphaFold |
Q6P9L6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040717
AA Change: Q542P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768
AA Change: Q542P
| 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 |
probably damaging
Transcript: ENSMUST00000214652
AA Change: Q314P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217415
|
| Meta Mutation Damage Score |
0.0859 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
T |
6: 116,404,098 (GRCm39) |
|
probably null |
Het |
| Aoc1l1 |
A |
T |
6: 48,952,305 (GRCm39) |
I77F |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,769,210 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
T |
A |
4: 34,716,310 (GRCm39) |
H385L |
possibly damaging |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Dhx32 |
T |
C |
7: 133,327,085 (GRCm39) |
Y332C |
probably damaging |
Het |
| Dlx1 |
T |
A |
2: 71,362,740 (GRCm39) |
W216R |
probably damaging |
Het |
| Dna2 |
G |
A |
10: 62,784,981 (GRCm39) |
A33T |
possibly damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Fign |
T |
A |
2: 63,809,044 (GRCm39) |
Q742L |
possibly damaging |
Het |
| Hip1r |
A |
G |
5: 124,138,204 (GRCm39) |
D766G |
probably benign |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Htt |
T |
C |
5: 34,961,875 (GRCm39) |
S287P |
probably benign |
Het |
| Icam5 |
A |
G |
9: 20,947,954 (GRCm39) |
I617M |
probably benign |
Het |
| Ifi27l2b |
T |
C |
12: 103,417,594 (GRCm39) |
T198A |
unknown |
Het |
| Ip6k3 |
T |
C |
17: 27,376,516 (GRCm39) |
Y65C |
probably damaging |
Het |
| Kit |
G |
T |
5: 75,808,487 (GRCm39) |
A744S |
probably benign |
Het |
| Kit |
C |
T |
5: 75,808,488 (GRCm39) |
A744V |
probably null |
Het |
| Lonp1 |
A |
G |
17: 56,933,488 (GRCm39) |
I129T |
possibly damaging |
Het |
| Ltbp4 |
C |
T |
7: 27,027,203 (GRCm39) |
R389Q |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,593 (GRCm39) |
K726N |
probably benign |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Npb |
G |
A |
11: 120,499,728 (GRCm39) |
V103I |
possibly damaging |
Het |
| Or13a22 |
T |
C |
7: 140,072,764 (GRCm39) |
M71T |
probably benign |
Het |
| Or2y3 |
G |
A |
17: 38,392,903 (GRCm39) |
|
probably null |
Het |
| Plin2 |
G |
T |
4: 86,575,381 (GRCm39) |
Y389* |
probably null |
Het |
| Pnpla6 |
G |
T |
8: 3,584,670 (GRCm39) |
G763C |
probably null |
Het |
| Pnpla7 |
A |
G |
2: 24,932,150 (GRCm39) |
D935G |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,265,711 (GRCm39) |
S10G |
probably benign |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Serpina12 |
G |
A |
12: 104,004,242 (GRCm39) |
T130I |
probably benign |
Het |
| Slc6a18 |
A |
G |
13: 73,825,921 (GRCm39) |
F43S |
probably damaging |
Het |
| Stx6 |
C |
T |
1: 155,034,654 (GRCm39) |
P6S |
probably damaging |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,747,208 (GRCm39) |
N1430I |
probably damaging |
Het |
| Trpm6 |
C |
G |
19: 18,831,795 (GRCm39) |
H1553Q |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
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 |
|
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 |
|
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'- GCTTTCAGAGAGACCAATTCAC -3'
(R):5'- TCGAAGGCCAGAAACTAGCC -3'
Sequencing Primer
(F):5'- TCAGAGAGACCAATTCACTTAGG -3'
(R):5'- GTTCTAGAAACTCAGGGCCTCATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation