Incidental Mutation 'IGL03092:Actmap'
| ID |
418420 |
| 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 # |
IGL03092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26895206-26909611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26900561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 180
(M180T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080356]
[ENSMUST00000108379]
[ENSMUST00000122202]
[ENSMUST00000179391]
|
| AlphaFold |
J3QPC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080356
|
| SMART Domains |
Protein: ENSMUSP00000079228
Gene: ENSMUSG00000061479
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
91 |
2.3e-14 |
SMART |
|
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
206 |
N/A |
INTRINSIC |
|
RRM
|
214 |
283 |
6.31e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108379
AA Change: M180T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786
AA Change: M180T
| 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: ENSMUST00000122202
|
| SMART Domains |
Protein: ENSMUSP00000113678
Gene: ENSMUSG00000061479
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
91 |
2.3e-14 |
SMART |
|
low complexity region
|
109 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
206 |
N/A |
INTRINSIC |
|
RRM
|
214 |
283 |
6.31e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123108
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155931
AA Change: M143T
|
| SMART Domains |
Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786
AA Change: M143T
| 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 damaging
Transcript: ENSMUST00000179391
AA Change: M180T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786
AA Change: M180T
| 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: ENSMUST00000206439
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,200,119 (GRCm39) |
L491P |
probably damaging |
Het |
| Abcc6 |
T |
A |
7: 45,635,894 (GRCm39) |
D1051V |
probably damaging |
Het |
| Aqr |
T |
A |
2: 113,989,424 (GRCm39) |
E133V |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,364,603 (GRCm39) |
N911D |
probably damaging |
Het |
| Cdcp3 |
G |
T |
7: 130,803,527 (GRCm39) |
|
probably null |
Het |
| Ces4a |
C |
T |
8: 105,874,836 (GRCm39) |
|
probably benign |
Het |
| Clec3b |
A |
T |
9: 122,980,100 (GRCm39) |
|
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,496,243 (GRCm39) |
|
probably benign |
Het |
| Ctsg |
T |
A |
14: 56,337,417 (GRCm39) |
*262L |
probably null |
Het |
| Cyp17a1 |
T |
A |
19: 46,661,050 (GRCm39) |
H78L |
possibly damaging |
Het |
| Dcaf13 |
C |
A |
15: 38,991,371 (GRCm39) |
|
probably benign |
Het |
| Dcun1d1 |
G |
T |
3: 35,975,141 (GRCm39) |
Q52K |
possibly damaging |
Het |
| Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,366,945 (GRCm39) |
|
probably benign |
Het |
| Dsel |
A |
G |
1: 111,787,793 (GRCm39) |
L914P |
probably damaging |
Het |
| Fbxo31 |
A |
G |
8: 122,286,757 (GRCm39) |
F174L |
probably benign |
Het |
| Gm9116 |
A |
G |
3: 93,817,513 (GRCm39) |
|
noncoding transcript |
Het |
| Gspt1 |
C |
T |
16: 11,056,763 (GRCm39) |
V211I |
probably benign |
Het |
| Hmgb1 |
A |
T |
5: 148,987,508 (GRCm39) |
S14T |
probably benign |
Het |
| Igsf8 |
A |
G |
1: 172,140,096 (GRCm39) |
|
probably benign |
Het |
| Klf13 |
A |
G |
7: 63,541,417 (GRCm39) |
F237L |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,854,005 (GRCm39) |
I962N |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 41,024,851 (GRCm39) |
D1108G |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,447,478 (GRCm39) |
Y178C |
probably damaging |
Het |
| Or4d10c |
C |
A |
19: 12,065,230 (GRCm39) |
E309* |
probably null |
Het |
| Or52d1 |
A |
T |
7: 103,755,854 (GRCm39) |
I123F |
probably damaging |
Het |
| Pde3b |
A |
T |
7: 114,122,583 (GRCm39) |
H717L |
probably damaging |
Het |
| Polr1b |
T |
C |
2: 128,965,049 (GRCm39) |
Y712H |
probably damaging |
Het |
| Pramel16 |
C |
A |
4: 143,676,767 (GRCm39) |
K112N |
probably damaging |
Het |
| Rnf157 |
T |
A |
11: 116,238,795 (GRCm39) |
|
probably null |
Het |
| Ros1 |
T |
C |
10: 51,974,902 (GRCm39) |
E1561G |
probably damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,154 (GRCm39) |
|
probably null |
Het |
| St18 |
A |
G |
1: 6,839,118 (GRCm39) |
|
probably benign |
Het |
| Ugp2 |
A |
G |
11: 21,279,722 (GRCm39) |
|
probably benign |
Het |
| Vmn1r70 |
T |
C |
7: 10,368,186 (GRCm39) |
S225P |
probably benign |
Het |
| Zfp641 |
T |
C |
15: 98,188,397 (GRCm39) |
D161G |
probably damaging |
Het |
|
| Other mutations in Actmap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02654:Actmap
|
APN |
7 |
26,903,298 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2016-08-02 |
Incidental Mutation