Incidental Mutation 'P0040:Arc'
| ID |
7978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arc
|
| Ensembl Gene |
ENSMUSG00000022602 |
| Gene Name |
activity regulated cytoskeletal-associated protein |
| Synonyms |
arg 3.1, Arc3.1 |
| MMRRC Submission |
038288-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
P0040 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
74540932-74544419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 74543188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 345
(L345R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023268]
[ENSMUST00000110009]
|
| AlphaFold |
Q9WV31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023268
AA Change: L345R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110009
AA Change: L345R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6815 |
| Coding Region Coverage |
- 1x: 72.9%
- 3x: 54.5%
- 10x: 17.9%
- 20x: 3.9%
|
| Validation Efficiency |
84% (31/37) |
| MGI Phenotype |
PHENOTYPE: Homozygous deletion of this gene results in embryonic lethality around E6.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Fat2 |
A |
T |
11: 55,173,039 (GRCm39) |
M2558K |
possibly damaging |
Het |
| Gper1 |
T |
C |
5: 139,412,243 (GRCm39) |
V196A |
probably benign |
Het |
| Hars1 |
A |
T |
18: 36,906,628 (GRCm39) |
I114N |
probably damaging |
Het |
| Mov10 |
C |
T |
3: 104,711,995 (GRCm39) |
V199M |
probably damaging |
Het |
| Mttp |
T |
G |
3: 137,818,327 (GRCm39) |
D377A |
possibly damaging |
Het |
| Nlgn2 |
C |
T |
11: 69,716,556 (GRCm39) |
A662T |
probably benign |
Het |
| P3h3 |
A |
G |
6: 124,830,099 (GRCm39) |
I372T |
probably damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,047,138 (GRCm39) |
S753C |
probably damaging |
Het |
| Sphk1 |
C |
T |
11: 116,425,891 (GRCm39) |
|
probably benign |
Het |
| Xylt2 |
C |
A |
11: 94,559,617 (GRCm39) |
V342L |
possibly damaging |
Het |
|
| Other mutations in Arc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01778:Arc
|
APN |
15 |
74,544,204 (GRCm39) |
missense |
probably benign |
|
|
IGL02372:Arc
|
APN |
15 |
74,543,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03209:Arc
|
APN |
15 |
74,543,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Arc
|
UTSW |
15 |
74,543,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1377:Arc
|
UTSW |
15 |
74,544,101 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2430:Arc
|
UTSW |
15 |
74,543,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4647:Arc
|
UTSW |
15 |
74,543,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Arc
|
UTSW |
15 |
74,543,592 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6436:Arc
|
UTSW |
15 |
74,544,098 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6743:Arc
|
UTSW |
15 |
74,543,636 (GRCm39) |
missense |
probably benign |
|
|
R8678:Arc
|
UTSW |
15 |
74,543,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Arc
|
UTSW |
15 |
74,543,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9070:Arc
|
UTSW |
15 |
74,543,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Arc
|
UTSW |
15 |
74,543,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9428:Arc
|
UTSW |
15 |
74,543,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF003:Arc
|
UTSW |
15 |
74,543,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-11-20 |
Incidental Mutation