Incidental Mutation 'IGL01459:Kif15'
| ID |
87928 |
| 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 # |
IGL01459
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
122780146-122847798 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122804820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 189
(E189G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040717]
[ENSMUST00000213745]
[ENSMUST00000214652]
[ENSMUST00000216388]
[ENSMUST00000217401]
|
| AlphaFold |
Q6P9L6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040717
AA Change: E189G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768
AA Change: E189G
| 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 damaging
Transcript: ENSMUST00000213745
AA Change: E189G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214652
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215176
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216388
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217401
AA Change: E118G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a2 |
A |
G |
5: 122,607,715 (GRCm39) |
S265P |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,848,620 (GRCm39) |
F520L |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,864,449 (GRCm39) |
D470V |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,281,378 (GRCm39) |
R41G |
probably damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,024 (GRCm39) |
C345Y |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,653,981 (GRCm39) |
Y1419* |
probably null |
Het |
| Entpd3 |
T |
C |
9: 120,391,007 (GRCm39) |
S420P |
probably damaging |
Het |
| Epb41 |
A |
G |
4: 131,691,439 (GRCm39) |
|
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Fndc3b |
T |
A |
3: 27,515,889 (GRCm39) |
H639L |
probably benign |
Het |
| Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
| Kbtbd8 |
A |
G |
6: 95,099,789 (GRCm39) |
N356D |
probably benign |
Het |
| Kif2b |
T |
C |
11: 91,467,849 (GRCm39) |
K145E |
possibly damaging |
Het |
| Kif5c |
A |
G |
2: 49,625,569 (GRCm39) |
D613G |
probably benign |
Het |
| Lipe |
T |
G |
7: 25,082,967 (GRCm39) |
Q457P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,750,726 (GRCm39) |
I2946N |
probably damaging |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,066,804 (GRCm39) |
S5886P |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,506,196 (GRCm39) |
|
probably null |
Het |
| Nup153 |
T |
C |
13: 46,866,402 (GRCm39) |
E214G |
possibly damaging |
Het |
| Or14c44 |
A |
C |
7: 86,061,759 (GRCm39) |
N104T |
probably damaging |
Het |
| Or6c66b |
G |
A |
10: 129,376,410 (GRCm39) |
M1I |
probably null |
Het |
| Paqr3 |
T |
C |
5: 97,243,796 (GRCm39) |
D306G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,446,878 (GRCm39) |
D796G |
probably benign |
Het |
| Prkra |
A |
G |
2: 76,460,780 (GRCm39) |
L306S |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,416,638 (GRCm39) |
E159D |
probably damaging |
Het |
| Ptchd3 |
G |
T |
11: 121,721,246 (GRCm39) |
V40L |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,086 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,865,275 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
C |
A |
11: 53,877,303 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
G |
15: 11,391,940 (GRCm39) |
V265A |
possibly damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,686,992 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,378,592 (GRCm39) |
P399L |
probably damaging |
Het |
| Tmem135 |
A |
T |
7: 88,800,646 (GRCm39) |
D325E |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,483,706 (GRCm39) |
I556N |
probably benign |
Het |
| Tom1l2 |
C |
T |
11: 60,171,095 (GRCm39) |
G23S |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,241,435 (GRCm39) |
|
probably benign |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,241 (GRCm39) |
I54T |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,603,903 (GRCm39) |
C43R |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,673,371 (GRCm39) |
L405P |
probably benign |
Het |
| Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably damaging |
Het |
|
| Other mutations in Kif15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-18 |
Incidental Mutation