Incidental Mutation 'R8228:Kif15'
ID |
637059 |
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 |
067661-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8228 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 122821041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 649
(N649D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
|
AlphaFold |
Q6P9L6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040717
AA Change: N649D
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000035490 Gene: ENSMUSG00000036768 AA Change: N649D
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610030E20Rik |
T |
C |
6: 72,324,500 (GRCm39) |
|
probably null |
Het |
1700008O03Rik |
A |
G |
7: 44,009,729 (GRCm39) |
Y158H |
probably benign |
Het |
4930438A08Rik |
T |
A |
11: 58,182,381 (GRCm39) |
I252N |
|
Het |
A930011G23Rik |
G |
A |
5: 99,524,980 (GRCm39) |
P60S |
probably damaging |
Het |
Abcf1 |
A |
G |
17: 36,271,933 (GRCm39) |
|
probably null |
Het |
AI987944 |
T |
C |
7: 41,026,260 (GRCm39) |
T14A |
probably damaging |
Het |
Alox12b |
T |
C |
11: 69,054,755 (GRCm39) |
Y253H |
probably damaging |
Het |
Anapc1 |
T |
A |
2: 128,461,837 (GRCm39) |
K1756* |
probably null |
Het |
Arid5b |
T |
A |
10: 68,114,536 (GRCm39) |
E2V |
possibly damaging |
Het |
Atp13a1 |
G |
A |
8: 70,251,569 (GRCm39) |
V545M |
probably damaging |
Het |
Atp2b4 |
TTCTTC |
TTCTTCCTCTTC |
1: 133,629,459 (GRCm39) |
|
probably benign |
Het |
Cert1 |
A |
G |
13: 96,679,723 (GRCm39) |
T18A |
probably benign |
Het |
Cfap119 |
G |
A |
7: 127,184,179 (GRCm39) |
T239M |
probably benign |
Het |
Col1a1 |
T |
G |
11: 94,836,426 (GRCm39) |
|
probably null |
Het |
Csdc2 |
C |
T |
15: 81,833,411 (GRCm39) |
T136I |
possibly damaging |
Het |
Dpp9 |
A |
T |
17: 56,498,129 (GRCm39) |
I609N |
probably damaging |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Gjb6 |
T |
C |
14: 57,361,926 (GRCm39) |
R112G |
probably benign |
Het |
Gm19410 |
A |
G |
8: 36,252,992 (GRCm39) |
K646E |
possibly damaging |
Het |
Grik5 |
T |
C |
7: 24,709,933 (GRCm39) |
E934G |
probably damaging |
Het |
Grik5 |
A |
T |
7: 24,745,735 (GRCm39) |
F446Y |
possibly damaging |
Het |
Iffo2 |
C |
G |
4: 139,302,483 (GRCm39) |
N75K |
probably damaging |
Het |
Lrit2 |
G |
A |
14: 36,791,148 (GRCm39) |
A276T |
probably damaging |
Het |
Mcm8 |
T |
C |
2: 132,684,714 (GRCm39) |
|
probably null |
Het |
Mmut |
A |
G |
17: 41,248,219 (GRCm39) |
E82G |
possibly damaging |
Het |
Or4n4 |
A |
G |
14: 50,518,997 (GRCm39) |
S238P |
probably damaging |
Het |
Or5w8 |
T |
A |
2: 87,688,284 (GRCm39) |
M255K |
probably benign |
Het |
Pcdhga8 |
A |
G |
18: 37,861,236 (GRCm39) |
Q764R |
probably benign |
Het |
Pcgf2 |
T |
C |
11: 97,582,865 (GRCm39) |
Y138C |
probably benign |
Het |
Phf20l1 |
G |
T |
15: 66,511,789 (GRCm39) |
V922F |
possibly damaging |
Het |
Pkd1l2 |
A |
T |
8: 117,792,514 (GRCm39) |
I426N |
probably damaging |
Het |
Psmd6 |
T |
C |
14: 14,116,843 (GRCm38) |
N160S |
possibly damaging |
Het |
Robo1 |
A |
G |
16: 72,809,768 (GRCm39) |
D1172G |
probably benign |
Het |
Sdr9c7 |
T |
C |
10: 127,734,544 (GRCm39) |
Y11H |
possibly damaging |
Het |
Sec24c |
G |
T |
14: 20,739,975 (GRCm39) |
A635S |
probably benign |
Het |
Tex2 |
T |
C |
11: 106,457,997 (GRCm39) |
I478V |
probably benign |
Het |
Traip |
T |
C |
9: 107,838,265 (GRCm39) |
M166T |
probably benign |
Het |
Trdn |
T |
C |
10: 33,033,014 (GRCm39) |
S80P |
probably damaging |
Het |
Trim46 |
G |
T |
3: 89,142,255 (GRCm39) |
T744N |
probably benign |
Het |
Tsc1 |
C |
A |
2: 28,566,141 (GRCm39) |
A520D |
probably benign |
Het |
Usp36 |
T |
C |
11: 118,155,716 (GRCm39) |
E852G |
possibly damaging |
Het |
Vmn2r101 |
C |
T |
17: 19,811,284 (GRCm39) |
T456I |
probably benign |
Het |
Zc3h7a |
A |
G |
16: 10,956,954 (GRCm39) |
F885S |
probably damaging |
Het |
Zfp335 |
G |
A |
2: 164,746,818 (GRCm39) |
R354W |
probably damaging |
Het |
Zfp456 |
C |
A |
13: 67,514,533 (GRCm39) |
C391F |
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 |
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'- CCAAATCACATGTGAGCATAAACTG -3'
(R):5'- AGCACTGTCTAAAGTTCATGACG -3'
Sequencing Primer
(F):5'- TCACATGTGAGCATAAACTGTAATG -3'
(R):5'- TCATGACGAAACAGAATTTGATCCC -3'
|
Posted On |
2020-07-13 |