Incidental Mutation 'R1377:Arc'
| ID |
162922 |
| 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 |
039441-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1377 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
74540932-74544419 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74544101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 41
(H41Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023268]
[ENSMUST00000110009]
|
| AlphaFold |
Q9WV31 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023268
AA Change: H41Y
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110009
AA Change: H41Y
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,934,869 (GRCm39) |
V363A |
probably damaging |
Het |
| Atp7b |
G |
A |
8: 22,501,801 (GRCm39) |
A854V |
probably benign |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,059,596 (GRCm39) |
K4399* |
probably null |
Het |
| Dscam |
A |
G |
16: 96,573,694 (GRCm39) |
V756A |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,395,104 (GRCm39) |
E574V |
probably damaging |
Het |
| Fbxo46 |
T |
A |
7: 18,870,350 (GRCm39) |
V323E |
probably damaging |
Het |
| Gria1 |
C |
A |
11: 57,092,002 (GRCm39) |
N163K |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,545,202 (GRCm39) |
I133M |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,921,089 (GRCm39) |
L750Q |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,462,022 (GRCm39) |
R1195Q |
probably benign |
Het |
| Rbm15 |
T |
C |
3: 107,238,074 (GRCm39) |
T775A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,716 (GRCm39) |
E207G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,397,345 (GRCm39) |
I329N |
probably damaging |
Het |
| Stoml3 |
G |
A |
3: 53,415,062 (GRCm39) |
A285T |
probably benign |
Het |
| Trhr2 |
C |
T |
8: 123,087,327 (GRCm39) |
V38M |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,123 (GRCm39) |
L25P |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,021,694 (GRCm39) |
M748K |
unknown |
Het |
| Zfp454 |
T |
C |
11: 50,764,607 (GRCm39) |
Y164C |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,088,841 (GRCm39) |
V890A |
probably benign |
Het |
| Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably 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 |
|
P0040:Arc
|
UTSW |
15 |
74,543,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0732:Arc
|
UTSW |
15 |
74,543,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCAGACGGTAGAAGACCTCCC -3'
(R):5'- TTCTTAGCCTGTTCGGAGCCGC -3'
Sequencing Primer
(F):5'- ACGTGCATCTCACGCTTG -3'
(R):5'- CAGATGGAGCTGGACCATATGA -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation