Incidental Mutation 'R7158:Kif15'
| ID |
557448 |
| 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 |
045329-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7158 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 122828379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 897
(S897T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000214652]
|
| AlphaFold |
Q6P9L6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040717
AA Change: S897T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768
AA Change: S897T
| 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: ENSMUST00000214652
AA Change: S669T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0589 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,223,982 (GRCm39) |
M454L |
probably benign |
Het |
| Abca8b |
T |
A |
11: 109,825,415 (GRCm39) |
E1595V |
probably damaging |
Het |
| Actr5 |
T |
A |
2: 158,468,334 (GRCm39) |
C155S |
possibly damaging |
Het |
| Acvr1b |
T |
A |
15: 101,091,939 (GRCm39) |
V73E |
probably benign |
Het |
| Add2 |
T |
C |
6: 86,062,934 (GRCm39) |
Y31H |
probably damaging |
Het |
| Akap13 |
G |
T |
7: 75,229,342 (GRCm39) |
V92F |
probably damaging |
Het |
| Alox8 |
T |
A |
11: 69,076,696 (GRCm39) |
M568L |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,901,371 (GRCm39) |
E1145V |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,105,407 (GRCm39) |
C644* |
probably null |
Het |
| Cacng1 |
A |
T |
11: 107,594,665 (GRCm39) |
M166K |
probably damaging |
Het |
| Ces1f |
A |
G |
8: 93,994,644 (GRCm39) |
F256L |
probably benign |
Het |
| Clpb |
A |
G |
7: 101,313,039 (GRCm39) |
R8G |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,741,407 (GRCm39) |
V2504A |
possibly damaging |
Het |
| Coq8a |
T |
C |
1: 180,006,749 (GRCm39) |
D93G |
probably benign |
Het |
| Cry2 |
A |
T |
2: 92,244,060 (GRCm39) |
I371N |
probably damaging |
Het |
| Ddx43 |
A |
C |
9: 78,319,501 (GRCm39) |
Q276H |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,564,589 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,313,366 (GRCm39) |
T4378A |
probably benign |
Het |
| Fezf1 |
T |
C |
6: 23,245,789 (GRCm39) |
T459A |
probably benign |
Het |
| Gm10097 |
C |
T |
10: 5,019,407 (GRCm39) |
A72V |
unknown |
Het |
| Hydin |
A |
G |
8: 111,336,303 (GRCm39) |
S5027G |
possibly damaging |
Het |
| Inhbb |
A |
T |
1: 119,348,752 (GRCm39) |
L22* |
probably null |
Het |
| Kat8 |
G |
A |
7: 127,521,331 (GRCm39) |
G228S |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,511,773 (GRCm39) |
Y1460C |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,860,241 (GRCm39) |
D225V |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,589,869 (GRCm39) |
I800F |
probably benign |
Het |
| Mdn1 |
C |
A |
4: 32,725,121 (GRCm39) |
T2580K |
probably benign |
Het |
| Mest |
T |
C |
6: 30,744,913 (GRCm39) |
F201S |
possibly damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,764,318 (GRCm39) |
F470L |
probably benign |
Het |
| Nfic |
C |
T |
10: 81,256,439 (GRCm39) |
R75Q |
probably damaging |
Het |
| Nme2 |
G |
A |
11: 93,846,484 (GRCm39) |
|
probably benign |
Het |
| Nrg4 |
A |
G |
9: 55,149,384 (GRCm39) |
L71P |
probably damaging |
Het |
| Pacsin2 |
C |
T |
15: 83,263,943 (GRCm39) |
E365K |
possibly damaging |
Het |
| Pappa |
T |
C |
4: 65,123,104 (GRCm39) |
I813T |
possibly damaging |
Het |
| Pcdhgb4 |
A |
G |
18: 37,853,938 (GRCm39) |
E111G |
probably damaging |
Het |
| Pdzd8 |
C |
T |
19: 59,288,589 (GRCm39) |
R937H |
probably damaging |
Het |
| Per1 |
T |
G |
11: 68,994,930 (GRCm39) |
|
probably benign |
Het |
| Pex2 |
A |
G |
3: 5,626,396 (GRCm39) |
F138L |
probably benign |
Het |
| Pold1 |
A |
T |
7: 44,188,290 (GRCm39) |
N529K |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,326,623 (GRCm39) |
I316V |
|
Het |
| Prom1 |
A |
C |
5: 44,170,255 (GRCm39) |
I682S |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,042,565 (GRCm39) |
K481E |
probably damaging |
Het |
| Prrg4 |
A |
T |
2: 104,662,958 (GRCm39) |
V216E |
probably damaging |
Het |
| Ptch2 |
C |
T |
4: 116,971,981 (GRCm39) |
P1168S |
possibly damaging |
Het |
| Pvr |
C |
A |
7: 19,652,562 (GRCm39) |
E118* |
probably null |
Het |
| R3hcc1l |
C |
T |
19: 42,571,868 (GRCm39) |
P716S |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,875 (GRCm39) |
E382G |
probably damaging |
Het |
| Rbp3 |
T |
A |
14: 33,677,513 (GRCm39) |
M487K |
probably benign |
Het |
| Rsad2 |
A |
T |
12: 26,500,779 (GRCm39) |
|
probably null |
Het |
| Shmt1 |
T |
C |
11: 60,681,068 (GRCm39) |
I353V |
probably benign |
Het |
| Shprh |
C |
T |
10: 11,042,474 (GRCm39) |
T819I |
probably damaging |
Het |
| Skap1 |
T |
A |
11: 96,416,883 (GRCm39) |
F56Y |
possibly damaging |
Het |
| Slc22a16 |
G |
T |
10: 40,449,737 (GRCm39) |
V79L |
possibly damaging |
Het |
| Slc34a1 |
A |
G |
13: 55,549,044 (GRCm39) |
T165A |
probably damaging |
Het |
| Smchd1 |
A |
C |
17: 71,707,145 (GRCm39) |
I941R |
probably damaging |
Het |
| Syne1 |
C |
A |
10: 5,007,931 (GRCm39) |
V98F |
probably damaging |
Het |
| Tcaim |
A |
G |
9: 122,648,055 (GRCm39) |
D190G |
possibly damaging |
Het |
| Tdrd9 |
G |
C |
12: 112,002,800 (GRCm39) |
E816D |
probably benign |
Het |
| Tmem132d |
T |
C |
5: 128,214,083 (GRCm39) |
K326E |
possibly damaging |
Het |
| Usp35 |
T |
C |
7: 96,975,171 (GRCm39) |
M1V |
probably null |
Het |
| Wdr62 |
C |
T |
7: 29,970,163 (GRCm39) |
V215I |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,398,906 (GRCm39) |
T4153A |
unknown |
Het |
| Zfp239 |
G |
T |
6: 117,848,690 (GRCm39) |
E143* |
probably null |
Het |
| Zfp292 |
T |
C |
4: 34,808,679 (GRCm39) |
D1460G |
probably benign |
Het |
| Zfp647 |
C |
T |
15: 76,801,505 (GRCm39) |
G90R |
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 |
|
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'- ACAAGGCCATGACAGCTCTC -3'
(R):5'- ACAGTTGTGAGTATCAGGCAG -3'
Sequencing Primer
(F):5'- GACAGCTCTCTGAAAAACGTAAATG -3'
(R):5'- TCAGGCAGTTAAAATATACCAAGAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation