Incidental Mutation 'R1347:Arpc1a'
| ID |
186161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arpc1a
|
| Ensembl Gene |
ENSMUSG00000029621 |
| Gene Name |
actin related protein 2/3 complex, subunit 1A |
| Synonyms |
Sid32, 1110030K07Rik, 0610010H08Rik |
| MMRRC Submission |
039412-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.846)
|
| Stock # |
R1347 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
145020679-145045566 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 145034082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 150
(W150L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143026
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031625]
[ENSMUST00000124379]
[ENSMUST00000127694]
|
| AlphaFold |
Q9R0Q6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031625
AA Change: W150L
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031625
Gene: ENSMUSG00000029621
AA Change: W150L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
36 |
1e-18 |
BLAST |
|
WD40
|
41 |
80 |
2.55e-6 |
SMART |
|
WD40
|
89 |
124 |
1.1e2 |
SMART |
|
WD40
|
134 |
170 |
1.46e-1 |
SMART |
|
WD40
|
191 |
232 |
4.62e-1 |
SMART |
|
WD40
|
235 |
273 |
9.51e1 |
SMART |
|
WD40
|
312 |
356 |
3.68e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124379
|
| SMART Domains |
Protein: ENSMUSP00000114421
Gene: ENSMUSG00000029621
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
36 |
2e-19 |
BLAST |
|
WD40
|
41 |
80 |
2.55e-6 |
SMART |
|
WD40
|
89 |
124 |
1.1e2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127694
AA Change: W150L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143026
Gene: ENSMUSG00000029621
AA Change: W150L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
36 |
2e-18 |
BLAST |
|
WD40
|
41 |
80 |
1.6e-8 |
SMART |
|
WD40
|
89 |
124 |
6.8e-1 |
SMART |
|
WD40
|
134 |
170 |
8.9e-4 |
SMART |
|
WD40
|
191 |
232 |
2.8e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147564
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,350 (GRCm39) |
D646G |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,589,070 (GRCm39) |
H383Q |
probably damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,011 (GRCm39) |
T117A |
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,283 (GRCm39) |
E905V |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Glyr1 |
T |
C |
16: 4,839,203 (GRCm39) |
D338G |
probably damaging |
Het |
| Gpd2 |
A |
T |
2: 57,247,683 (GRCm39) |
K542M |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,330,535 (GRCm39) |
F1679L |
probably benign |
Het |
| Kif23 |
A |
G |
9: 61,834,438 (GRCm39) |
M427T |
probably damaging |
Het |
| Kpna1 |
T |
A |
16: 35,829,696 (GRCm39) |
I83N |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,019,445 (GRCm39) |
F770L |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,755,669 (GRCm39) |
F92I |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,135,567 (GRCm39) |
|
probably benign |
Het |
| Or2a56 |
A |
C |
6: 42,932,639 (GRCm39) |
D69A |
probably damaging |
Het |
| Or5b105 |
T |
C |
19: 13,080,054 (GRCm39) |
I199V |
probably benign |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Rims3 |
G |
A |
4: 120,740,322 (GRCm39) |
G90S |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 17,027,625 (GRCm39) |
C1314Y |
possibly damaging |
Het |
| Serpinb6e |
C |
T |
13: 34,025,180 (GRCm39) |
C37Y |
possibly damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,202 (GRCm39) |
T248I |
probably benign |
Het |
| Tbx15 |
C |
A |
3: 99,259,427 (GRCm39) |
Q433K |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,527,330 (GRCm39) |
|
probably benign |
Het |
| Zim1 |
C |
A |
7: 6,680,430 (GRCm39) |
C411F |
probably damaging |
Het |
|
| Other mutations in Arpc1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01503:Arpc1a
|
APN |
5 |
145,032,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02672:Arpc1a
|
APN |
5 |
145,041,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0068:Arpc1a
|
UTSW |
5 |
145,028,054 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0068:Arpc1a
|
UTSW |
5 |
145,028,054 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1347:Arpc1a
|
UTSW |
5 |
145,034,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Arpc1a
|
UTSW |
5 |
145,037,896 (GRCm39) |
splice site |
probably null |
|
|
R1870:Arpc1a
|
UTSW |
5 |
145,043,901 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1871:Arpc1a
|
UTSW |
5 |
145,043,901 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2154:Arpc1a
|
UTSW |
5 |
145,029,369 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2385:Arpc1a
|
UTSW |
5 |
145,041,333 (GRCm39) |
splice site |
probably null |
|
|
R3698:Arpc1a
|
UTSW |
5 |
145,033,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6462:Arpc1a
|
UTSW |
5 |
145,045,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6720:Arpc1a
|
UTSW |
5 |
145,038,032 (GRCm39) |
splice site |
probably null |
|
|
R6825:Arpc1a
|
UTSW |
5 |
145,032,936 (GRCm39) |
nonsense |
probably null |
|
|
R7174:Arpc1a
|
UTSW |
5 |
145,034,087 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7473:Arpc1a
|
UTSW |
5 |
145,037,886 (GRCm39) |
missense |
probably benign |
|
|
R7619:Arpc1a
|
UTSW |
5 |
145,041,668 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7775:Arpc1a
|
UTSW |
5 |
145,041,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9433:Arpc1a
|
UTSW |
5 |
145,045,203 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTTCATCAGGAGCAACTGCCT -3'
(R):5'- AAGTTCCTTCATCAGTCCCCTACAGTG -3'
Sequencing Primer
(F):5'- gctatacagagaaaccctgcc -3'
(R):5'- TGGATGTCCGACAAGCTGAA -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation