Incidental Mutation 'IGL02040:Kif15'
ID |
184691 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kif15
|
Ensembl Gene |
ENSMUSG00000036768 |
Gene Name |
kinesin family member 15 |
Synonyms |
N-10 kinesin, 3930402I10Rik, 3110023M17Rik, HKLP2, Knsl7 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02040
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 122846450 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Serine
at position 117
(Y117S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000084733]
[ENSMUST00000213514]
[ENSMUST00000214785]
[ENSMUST00000216062]
[ENSMUST00000216048]
|
AlphaFold |
Q6P9L6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040717
AA Change: Y1316S
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035490 Gene: ENSMUSG00000036768 AA Change: Y1316S
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 |
noncoding transcript
Transcript: ENSMUST00000213945
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214077
|
Predicted Effect |
unknown
Transcript: ENSMUST00000214311
AA Change: Y185S
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214785
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216062
AA Change: Y117S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216048
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217036
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217612
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217077
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
T |
G |
5: 3,630,405 (GRCm39) |
F107C |
probably damaging |
Het |
4930590J08Rik |
T |
C |
6: 91,895,091 (GRCm39) |
V262A |
probably benign |
Het |
A830018L16Rik |
T |
A |
1: 12,003,822 (GRCm39) |
|
probably benign |
Het |
Adgrb1 |
T |
C |
15: 74,413,424 (GRCm39) |
V536A |
possibly damaging |
Het |
Ano6 |
T |
G |
15: 95,853,825 (GRCm39) |
I667R |
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,545,353 (GRCm39) |
|
probably null |
Het |
Azin2 |
G |
T |
4: 128,844,451 (GRCm39) |
L37M |
possibly damaging |
Het |
Caap1 |
A |
G |
4: 94,438,667 (GRCm39) |
I174T |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,616,585 (GRCm39) |
V46A |
probably benign |
Het |
Chrna6 |
T |
C |
8: 27,897,289 (GRCm39) |
D196G |
probably damaging |
Het |
Col19a1 |
A |
G |
1: 24,351,126 (GRCm39) |
|
probably null |
Het |
Defb22 |
G |
T |
2: 152,331,976 (GRCm39) |
T19K |
possibly damaging |
Het |
Dhx36 |
T |
C |
3: 62,408,436 (GRCm39) |
D134G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,603,558 (GRCm39) |
I2211V |
probably benign |
Het |
Ecel1 |
A |
C |
1: 87,082,645 (GRCm39) |
C23G |
probably benign |
Het |
Elmod2 |
A |
G |
8: 84,048,126 (GRCm39) |
V112A |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,531,754 (GRCm39) |
K510E |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,081,694 (GRCm39) |
S1113R |
probably damaging |
Het |
Esf1 |
A |
T |
2: 139,971,181 (GRCm39) |
D653E |
possibly damaging |
Het |
Exd1 |
A |
G |
2: 119,370,546 (GRCm39) |
V54A |
possibly damaging |
Het |
Fam227b |
A |
T |
2: 125,963,004 (GRCm39) |
|
probably benign |
Het |
Fnbp1l |
A |
G |
3: 122,364,602 (GRCm39) |
|
probably benign |
Het |
Foxf1 |
A |
G |
8: 121,812,084 (GRCm39) |
N316S |
probably damaging |
Het |
Gpaa1 |
T |
C |
15: 76,218,495 (GRCm39) |
V426A |
probably benign |
Het |
Gpc2 |
A |
G |
5: 138,274,844 (GRCm39) |
|
probably null |
Het |
Hnrnpab |
A |
G |
11: 51,492,622 (GRCm39) |
|
probably benign |
Het |
Hsf4 |
T |
G |
8: 106,002,299 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
G |
T |
1: 37,435,166 (GRCm39) |
R179L |
probably damaging |
Het |
Jakmip2 |
T |
A |
18: 43,704,919 (GRCm39) |
M361L |
probably benign |
Het |
Lnpep |
T |
C |
17: 17,765,167 (GRCm39) |
H761R |
probably benign |
Het |
Masp2 |
G |
T |
4: 148,688,270 (GRCm39) |
C180F |
probably damaging |
Het |
Mical2 |
A |
G |
7: 111,910,613 (GRCm39) |
E261G |
probably damaging |
Het |
Mtmr7 |
T |
C |
8: 41,013,926 (GRCm39) |
I211V |
probably benign |
Het |
Nsd2 |
T |
C |
5: 34,024,915 (GRCm39) |
|
probably benign |
Het |
Or4c121 |
A |
G |
2: 89,023,907 (GRCm39) |
I157T |
probably benign |
Het |
Or51q1c |
A |
G |
7: 103,652,614 (GRCm39) |
N44S |
probably damaging |
Het |
Or8d1b |
T |
C |
9: 38,887,910 (GRCm39) |
|
probably benign |
Het |
Or8j3c |
A |
G |
2: 86,253,336 (GRCm39) |
I228T |
probably damaging |
Het |
Oxct1 |
G |
A |
15: 4,056,250 (GRCm39) |
|
probably benign |
Het |
Pira13 |
A |
G |
7: 3,824,516 (GRCm39) |
|
probably benign |
Het |
Plbd2 |
C |
T |
5: 120,625,507 (GRCm39) |
S430N |
probably damaging |
Het |
Postn |
A |
G |
3: 54,270,110 (GRCm39) |
K63R |
probably benign |
Het |
Pramel19 |
G |
A |
4: 101,798,331 (GRCm39) |
V101I |
possibly damaging |
Het |
Proc |
A |
T |
18: 32,267,913 (GRCm39) |
V75E |
probably benign |
Het |
Ptprt |
T |
C |
2: 162,079,992 (GRCm39) |
Y269C |
probably damaging |
Het |
Rcc2 |
T |
C |
4: 140,447,902 (GRCm39) |
V476A |
possibly damaging |
Het |
Recql5 |
A |
G |
11: 115,823,623 (GRCm39) |
V41A |
possibly damaging |
Het |
Ros1 |
T |
A |
10: 51,992,018 (GRCm39) |
I1402F |
probably damaging |
Het |
Rpgrip1 |
C |
T |
14: 52,358,476 (GRCm39) |
T194I |
possibly damaging |
Het |
Scin |
T |
C |
12: 40,119,452 (GRCm39) |
|
probably benign |
Het |
Skint4 |
T |
C |
4: 112,003,679 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
T |
A |
2: 29,903,725 (GRCm39) |
S1545T |
probably benign |
Het |
Tpra1 |
A |
T |
6: 88,887,164 (GRCm39) |
H168L |
possibly damaging |
Het |
Trim47 |
T |
C |
11: 115,998,734 (GRCm39) |
E295G |
probably damaging |
Het |
Ttc28 |
T |
A |
5: 111,040,802 (GRCm39) |
C63* |
probably null |
Het |
Usp45 |
G |
A |
4: 21,830,433 (GRCm39) |
R696H |
probably benign |
Het |
Zfyve27 |
G |
A |
19: 42,167,830 (GRCm39) |
R124Q |
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 |
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 |
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 |
|
|
Posted On |
2014-05-07 |