Incidental Mutation 'R7163:Kif15'
| ID |
557744 |
| 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 |
045330-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7163 (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 122846722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1348
(N1348S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000084733]
[ENSMUST00000213514]
[ENSMUST00000214785]
[ENSMUST00000216048]
[ENSMUST00000216062]
|
| AlphaFold |
Q6P9L6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040717
AA Change: N1348S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768
AA Change: N1348S
| 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 |
probably benign
Transcript: ENSMUST00000214311
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214785
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216048
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216062
AA Change: N149S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
G |
9: 53,319,372 (GRCm39) |
K4R |
possibly damaging |
Het |
| A830018L16Rik |
G |
A |
1: 11,484,848 (GRCm39) |
G19D |
probably damaging |
Het |
| Abca3 |
A |
T |
17: 24,583,916 (GRCm39) |
M102L |
probably benign |
Het |
| Adam19 |
A |
T |
11: 46,022,544 (GRCm39) |
Y499F |
probably benign |
Het |
| Adck2 |
T |
C |
6: 39,560,797 (GRCm39) |
V444A |
probably damaging |
Het |
| Adck5 |
T |
C |
15: 76,478,016 (GRCm39) |
V214A |
probably damaging |
Het |
| Agrn |
G |
A |
4: 156,262,966 (GRCm39) |
T437M |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,158,671 (GRCm39) |
I81F |
probably damaging |
Het |
| Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
| Blmh |
A |
G |
11: 76,836,987 (GRCm39) |
Y23C |
unknown |
Het |
| Cacnb1 |
A |
G |
11: 97,903,726 (GRCm39) |
V109A |
probably benign |
Het |
| Ccdc27 |
C |
T |
4: 154,117,282 (GRCm39) |
R555H |
not run |
Het |
| Cep170 |
A |
C |
1: 176,602,031 (GRCm39) |
S358R |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,197,994 (GRCm39) |
|
probably null |
Het |
| Dclk1 |
G |
T |
3: 55,163,549 (GRCm39) |
E214* |
probably null |
Het |
| Dhrs1 |
A |
G |
14: 55,976,838 (GRCm39) |
L282P |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,637,095 (GRCm39) |
L461P |
probably damaging |
Het |
| Elp2 |
G |
T |
18: 24,747,503 (GRCm39) |
C185F |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,832,892 (GRCm39) |
|
probably benign |
Het |
| Fga |
T |
C |
3: 82,933,571 (GRCm39) |
V17A |
probably benign |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gm43302 |
T |
A |
5: 105,441,493 (GRCm39) |
|
probably null |
Het |
| Gpatch8 |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
11: 102,371,014 (GRCm39) |
|
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,062,083 (GRCm39) |
I450L |
unknown |
Het |
| Hydin |
T |
A |
8: 111,329,968 (GRCm39) |
C4901S |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,223,356 (GRCm39) |
I1186N |
probably damaging |
Het |
| Ints7 |
T |
A |
1: 191,349,949 (GRCm39) |
I781N |
possibly damaging |
Het |
| Irf2 |
T |
A |
8: 47,290,712 (GRCm39) |
V178E |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,226,277 (GRCm39) |
S722T |
possibly damaging |
Het |
| Jak1 |
G |
A |
4: 101,032,385 (GRCm39) |
S407F |
probably damaging |
Het |
| Kdm3a |
G |
T |
6: 71,609,061 (GRCm39) |
D55E |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 899,940 (GRCm39) |
S169P |
probably damaging |
Het |
| Kpna7 |
G |
A |
5: 144,939,206 (GRCm39) |
P187L |
unknown |
Het |
| Krt35 |
A |
T |
11: 99,986,984 (GRCm39) |
F10Y |
probably damaging |
Het |
| Lemd1 |
G |
T |
1: 132,184,475 (GRCm39) |
V131F |
probably benign |
Het |
| Mcf2l |
G |
A |
8: 12,965,439 (GRCm39) |
R4H |
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,351,898 (GRCm39) |
R1166C |
probably damaging |
Het |
| Mmp11 |
T |
C |
10: 75,762,410 (GRCm39) |
I308V |
possibly damaging |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,238 (GRCm39) |
V121A |
probably benign |
Het |
| Myl2 |
T |
A |
5: 122,239,885 (GRCm39) |
I26N |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,389,195 (GRCm39) |
M862V |
|
Het |
| Nckap5l |
T |
C |
15: 99,331,354 (GRCm39) |
H64R |
probably damaging |
Het |
| Nipsnap2 |
A |
C |
5: 129,821,774 (GRCm39) |
E90A |
probably benign |
Het |
| Nup210 |
G |
T |
6: 91,050,313 (GRCm39) |
N385K |
probably damaging |
Het |
| Or2h2 |
T |
C |
17: 37,396,937 (GRCm39) |
N40S |
probably damaging |
Het |
| Or2t48 |
C |
A |
11: 58,419,994 (GRCm39) |
E273* |
probably null |
Het |
| Or5m11b |
T |
A |
2: 85,805,932 (GRCm39) |
L115Q |
probably damaging |
Het |
| Or8c19-ps1 |
T |
C |
9: 38,220,345 (GRCm39) |
F85L |
probably damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,012 (GRCm39) |
V24A |
probably benign |
Het |
| Pcmt1 |
A |
T |
10: 7,513,922 (GRCm39) |
M249K |
probably benign |
Het |
| Pde3a |
T |
C |
6: 141,433,270 (GRCm39) |
L767P |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,956,456 (GRCm39) |
V285A |
possibly damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,716,416 (GRCm39) |
K690* |
probably null |
Het |
| Plxna4 |
T |
C |
6: 32,473,691 (GRCm39) |
H442R |
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,967,931 (GRCm39) |
D1108G |
probably benign |
Het |
| Prkn |
G |
A |
17: 12,280,434 (GRCm39) |
C430Y |
probably damaging |
Het |
| Sec23ip |
T |
C |
7: 128,364,257 (GRCm39) |
|
probably null |
Het |
| Slc24a3 |
A |
G |
2: 145,086,911 (GRCm39) |
D57G |
probably benign |
Het |
| Sprtn |
T |
G |
8: 125,625,044 (GRCm39) |
F50V |
probably damaging |
Het |
| Srr |
A |
G |
11: 74,803,828 (GRCm39) |
F43S |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,262,727 (GRCm39) |
F17L |
possibly damaging |
Het |
| Taar1 |
G |
T |
10: 23,796,918 (GRCm39) |
M205I |
probably benign |
Het |
| Tas2r143 |
A |
G |
6: 42,377,202 (GRCm39) |
I11V |
probably benign |
Het |
| Tlx1 |
T |
C |
19: 45,139,655 (GRCm39) |
S101P |
probably damaging |
Het |
| Tmeff2 |
T |
C |
1: 50,977,503 (GRCm39) |
|
probably null |
Het |
| Vhl |
A |
G |
6: 113,606,451 (GRCm39) |
D156G |
possibly damaging |
Het |
| Washc4 |
T |
A |
10: 83,426,897 (GRCm39) |
D1068E |
probably damaging |
Het |
| Zfp513 |
A |
G |
5: 31,358,076 (GRCm39) |
V101A |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,761,669 (GRCm39) |
R71G |
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 |
|
|
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'- AGTGTGCAGAGATATATGGCC -3'
(R):5'- CTGGCATCTATGAGAATTTAACCTG -3'
Sequencing Primer
(F):5'- TATATGGCCACAGAAGCTTGAC -3'
(R):5'- TCAGACTGGATTTCAGAGTATGACCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation