Incidental Mutation 'R4597:Kif15'
| ID |
344454 |
| 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 |
041813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122822914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 432
(T432A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000214652]
|
| AlphaFold |
Q6P9L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040717
AA Change: T660A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768
AA Change: T660A
| 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 |
noncoding transcript
Transcript: ENSMUST00000214183
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214652
AA Change: T432A
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217243
|
| Meta Mutation Damage Score |
0.0617 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (67/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
T |
A |
2: 103,856,500 (GRCm39) |
|
probably benign |
Het |
| Aadacl2fm3 |
T |
A |
3: 59,784,214 (GRCm39) |
M229K |
possibly damaging |
Het |
| Adh5 |
T |
C |
3: 138,151,118 (GRCm39) |
V27A |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,781,800 (GRCm39) |
D843E |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,268,737 (GRCm39) |
N950S |
probably damaging |
Het |
| Arl1 |
A |
T |
10: 88,566,608 (GRCm39) |
|
probably benign |
Het |
| Bcl3 |
T |
G |
7: 19,546,428 (GRCm39) |
I136L |
probably damaging |
Het |
| Car9 |
T |
A |
4: 43,509,138 (GRCm39) |
S235R |
probably damaging |
Het |
| Carnmt1 |
G |
T |
19: 18,648,451 (GRCm39) |
G30W |
probably damaging |
Het |
| Casp12 |
C |
T |
9: 5,348,941 (GRCm39) |
T101I |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,244,823 (GRCm39) |
L1026P |
probably damaging |
Het |
| Clec10a |
A |
T |
11: 70,060,806 (GRCm39) |
Y186F |
probably damaging |
Het |
| Col22a1 |
G |
T |
15: 71,836,511 (GRCm39) |
A508E |
possibly damaging |
Het |
| Crocc |
G |
C |
4: 140,747,088 (GRCm39) |
S1573R |
probably damaging |
Het |
| Cttnbp2nl |
G |
T |
3: 104,913,191 (GRCm39) |
T231K |
possibly damaging |
Het |
| Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
| Ehbp1l1 |
T |
C |
19: 5,767,955 (GRCm39) |
E1116G |
possibly damaging |
Het |
| Fam83d |
T |
C |
2: 158,627,142 (GRCm39) |
V277A |
possibly damaging |
Het |
| Fga |
G |
T |
3: 82,938,542 (GRCm39) |
G306* |
probably null |
Het |
| Fkbp9 |
A |
G |
6: 56,809,367 (GRCm39) |
Y59C |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,274,441 (GRCm39) |
T450A |
probably benign |
Het |
| Gabbr1 |
A |
G |
17: 37,367,791 (GRCm39) |
M414V |
possibly damaging |
Het |
| Gm16506 |
A |
G |
14: 43,962,572 (GRCm39) |
F112L |
unknown |
Het |
| Gm27047 |
T |
C |
6: 130,607,299 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4353 |
T |
A |
7: 115,682,847 (GRCm39) |
K245* |
probably null |
Het |
| Gm4950 |
A |
T |
18: 51,998,865 (GRCm39) |
I30N |
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,681 (GRCm39) |
V15E |
probably damaging |
Het |
| H2-M10.2 |
T |
C |
17: 36,596,285 (GRCm39) |
T187A |
probably benign |
Het |
| H60c |
A |
T |
10: 3,209,968 (GRCm39) |
N106K |
possibly damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,185,387 (GRCm39) |
|
probably null |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,276 (GRCm39) |
C115R |
probably damaging |
Het |
| Il17a |
G |
A |
1: 20,801,217 (GRCm39) |
|
probably null |
Het |
| Itga9 |
T |
C |
9: 118,672,582 (GRCm39) |
Y199H |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,312,257 (GRCm39) |
R554C |
probably damaging |
Het |
| Kcnc3 |
T |
A |
7: 44,245,240 (GRCm39) |
M510K |
probably damaging |
Het |
| Kif26b |
A |
T |
1: 178,744,358 (GRCm39) |
S1485C |
probably damaging |
Het |
| Klhl2 |
C |
A |
8: 65,207,421 (GRCm39) |
G313W |
probably damaging |
Het |
| Klhl32 |
C |
T |
4: 24,629,339 (GRCm39) |
S476N |
probably benign |
Het |
| Krt1 |
C |
T |
15: 101,756,063 (GRCm39) |
E386K |
possibly damaging |
Het |
| Lats1 |
T |
C |
10: 7,567,510 (GRCm39) |
S94P |
probably benign |
Het |
| Ltf |
G |
A |
9: 110,852,001 (GRCm39) |
C146Y |
probably damaging |
Het |
| Mars1 |
A |
G |
10: 127,136,322 (GRCm39) |
L501P |
probably damaging |
Het |
| Myh2 |
A |
C |
11: 67,080,244 (GRCm39) |
I1153L |
probably benign |
Het |
| Ncstn |
A |
T |
1: 171,895,823 (GRCm39) |
Y522* |
probably null |
Het |
| Nipal4 |
A |
G |
11: 46,042,156 (GRCm39) |
V175A |
probably damaging |
Het |
| Or7e169 |
T |
C |
9: 19,756,987 (GRCm39) |
I309M |
probably benign |
Het |
| Pcdha1 |
C |
G |
18: 37,064,959 (GRCm39) |
A541G |
possibly damaging |
Het |
| Pex11g |
A |
G |
8: 3,514,043 (GRCm39) |
Y40H |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,154 (GRCm39) |
Y496F |
possibly damaging |
Het |
| Qrfprl |
T |
C |
6: 65,424,408 (GRCm39) |
|
probably null |
Het |
| Rin2 |
G |
T |
2: 145,702,825 (GRCm39) |
R507L |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,260,616 (GRCm39) |
D200G |
probably damaging |
Het |
| Smg7 |
C |
A |
1: 152,716,052 (GRCm39) |
|
probably null |
Het |
| Snx17 |
T |
C |
5: 31,355,857 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,741,255 (GRCm39) |
Y510C |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,427 (GRCm39) |
L323* |
probably null |
Het |
| Supt16 |
C |
T |
14: 52,411,046 (GRCm39) |
G686D |
probably damaging |
Het |
| Szt2 |
C |
T |
4: 118,229,878 (GRCm39) |
R2751H |
unknown |
Het |
| Tnfsf8 |
A |
G |
4: 63,755,337 (GRCm39) |
L95P |
probably damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,428 (GRCm39) |
H493R |
probably benign |
Het |
| Zfp770 |
C |
T |
2: 114,027,251 (GRCm39) |
A273T |
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 |
|
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 |
|
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'- GGTCCTATGCTTAAAGAATACATCCTC -3'
(R):5'- TCGAAGCTCCTCTGAAACG -3'
Sequencing Primer
(F):5'- CTGGTCTACAAAGTGAGCTCCAG -3'
(R):5'- TGAAACGGCCTCCAGAGCTTG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation