Incidental Mutation 'IGL02654:Actmap'
| ID |
302265 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actmap
|
| Ensembl Gene |
ENSMUSG00000078786 |
| Gene Name |
actin maturation protease |
| Synonyms |
BC024978 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
IGL02654
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26895206-26909611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26903298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 289
(E289G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003850]
[ENSMUST00000108379]
[ENSMUST00000179391]
|
| AlphaFold |
J3QPC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003850
|
| SMART Domains |
Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
363 |
N/A |
INTRINSIC |
|
Pfam:IPK
|
462 |
673 |
3.7e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108379
AA Change: E289G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786
AA Change: E289G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
80 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123108
AA Change: E61G
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147170
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155931
|
| SMART Domains |
Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179391
AA Change: E289G
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786
AA Change: E289G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
80 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,977,826 (GRCm39) |
I468T |
possibly damaging |
Het |
| Anxa13 |
A |
G |
15: 58,205,397 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef33 |
A |
G |
17: 80,677,740 (GRCm39) |
Y429C |
probably damaging |
Het |
| Bdh1 |
T |
C |
16: 31,275,433 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,817,473 (GRCm39) |
|
probably benign |
Het |
| Dld |
G |
T |
12: 31,383,916 (GRCm39) |
H396N |
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,319 (GRCm39) |
V942A |
probably damaging |
Het |
| Eln |
A |
T |
5: 134,745,908 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,908,271 (GRCm39) |
T2577M |
possibly damaging |
Het |
| Gad1 |
A |
T |
2: 70,403,125 (GRCm39) |
K73M |
possibly damaging |
Het |
| Gipc1 |
T |
C |
8: 84,389,780 (GRCm39) |
V253A |
probably damaging |
Het |
| Gtpbp10 |
A |
C |
5: 5,593,372 (GRCm39) |
|
probably benign |
Het |
| Hgf |
A |
T |
5: 16,766,049 (GRCm39) |
T62S |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,311,161 (GRCm39) |
S1134P |
probably damaging |
Het |
| Hnrnpc |
A |
G |
14: 52,321,574 (GRCm39) |
L80S |
probably damaging |
Het |
| Kif20a |
G |
A |
18: 34,765,076 (GRCm39) |
R770H |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,401 (GRCm39) |
T374A |
possibly damaging |
Het |
| Mlana |
A |
G |
19: 29,682,018 (GRCm39) |
|
probably null |
Het |
| Nhsl3 |
C |
T |
4: 129,116,112 (GRCm39) |
G851R |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,100,716 (GRCm39) |
I169V |
possibly damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,555 (GRCm39) |
Y195* |
probably null |
Het |
| P3h3 |
A |
G |
6: 124,822,228 (GRCm39) |
V585A |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,614 (GRCm39) |
M468K |
probably benign |
Het |
| Prl8a2 |
T |
G |
13: 27,536,780 (GRCm39) |
I134S |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,738,730 (GRCm39) |
V2828A |
probably damaging |
Het |
| Rhbdd1 |
G |
T |
1: 82,320,504 (GRCm39) |
V163F |
probably benign |
Het |
| Rrp1 |
A |
G |
10: 78,248,773 (GRCm39) |
V5A |
probably benign |
Het |
| Sephs1 |
A |
T |
2: 4,889,366 (GRCm39) |
N48I |
probably benign |
Het |
| Speer4a3 |
T |
A |
5: 26,158,205 (GRCm39) |
H49L |
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,482,242 (GRCm39) |
Y149H |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,578,324 (GRCm39) |
D396G |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,015 (GRCm39) |
S2419G |
possibly damaging |
Het |
| Zfp128 |
A |
G |
7: 12,618,606 (GRCm39) |
T35A |
possibly damaging |
Het |
| Zmym2 |
T |
A |
14: 57,148,772 (GRCm39) |
F362Y |
probably damaging |
Het |
|
| Other mutations in Actmap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03092:Actmap
|
APN |
7 |
26,900,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Actmap
|
APN |
7 |
26,896,432 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03348:Actmap
|
APN |
7 |
26,896,545 (GRCm39) |
splice site |
probably null |
|
|
R0245:Actmap
|
UTSW |
7 |
26,900,028 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0650:Actmap
|
UTSW |
7 |
26,902,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Actmap
|
UTSW |
7 |
26,902,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Actmap
|
UTSW |
7 |
26,900,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Actmap
|
UTSW |
7 |
26,900,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Actmap
|
UTSW |
7 |
26,900,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Actmap
|
UTSW |
7 |
26,896,542 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6672:Actmap
|
UTSW |
7 |
26,903,489 (GRCm39) |
intron |
probably benign |
|
|
R7190:Actmap
|
UTSW |
7 |
26,900,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7191:Actmap
|
UTSW |
7 |
26,900,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Actmap
|
UTSW |
7 |
26,900,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Actmap
|
UTSW |
7 |
26,900,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Actmap
|
UTSW |
7 |
26,896,631 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8780:Actmap
|
UTSW |
7 |
26,900,503 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8952:Actmap
|
UTSW |
7 |
26,900,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Actmap
|
UTSW |
7 |
26,896,655 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0003:Actmap
|
UTSW |
7 |
26,901,916 (GRCm39) |
missense |
probably benign |
0.07 |
|
X0024:Actmap
|
UTSW |
7 |
26,900,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation