Incidental Mutation 'R6534:Arpc1b'
| ID |
520269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arpc1b
|
| Ensembl Gene |
ENSMUSG00000029622 |
| Gene Name |
actin related protein 2/3 complex, subunit 1B |
| Synonyms |
L72, p41-ARC, SOP2Hs |
| MMRRC Submission |
044660-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
145051066-145064996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 145059377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 34
(I34F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085679]
[ENSMUST00000136074]
[ENSMUST00000196111]
[ENSMUST00000141602]
|
| AlphaFold |
Q9WV32 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085679
AA Change: I34F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082822
Gene: ENSMUSG00000029622
AA Change: I34F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
36 |
4e-14 |
BLAST |
|
WD40
|
41 |
80 |
1.21e-7 |
SMART |
|
WD40
|
85 |
124 |
1.54e0 |
SMART |
|
WD40
|
130 |
170 |
1.56e-1 |
SMART |
|
WD40
|
191 |
230 |
7.7e-1 |
SMART |
|
Blast:WD40
|
233 |
271 |
9e-18 |
BLAST |
|
WD40
|
317 |
358 |
3.55e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129033
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136074
|
| SMART Domains |
Protein: ENSMUSP00000115022
Gene: ENSMUSG00000029622
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WD40
|
3 |
29 |
2.5e-3 |
PFAM |
|
WD40
|
77 |
121 |
1.79e-1 |
SMART |
|
WD40
|
142 |
181 |
7.7e-1 |
SMART |
|
Blast:WD40
|
184 |
222 |
1e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138235
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138900
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196111
AA Change: I34F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143438
Gene: ENSMUSG00000029622
AA Change: I34F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
36 |
4e-14 |
BLAST |
|
WD40
|
41 |
80 |
1.21e-7 |
SMART |
|
WD40
|
85 |
124 |
1.54e0 |
SMART |
|
WD40
|
130 |
170 |
1.56e-1 |
SMART |
|
WD40
|
191 |
230 |
7.7e-1 |
SMART |
|
Blast:WD40
|
237 |
275 |
2e-16 |
BLAST |
|
WD40
|
321 |
362 |
3.55e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141602
AA Change: I34F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122340
Gene: ENSMUSG00000029622
AA Change: I34F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
36 |
2e-15 |
BLAST |
|
PDB:2P9U|C
|
1 |
56 |
2e-33 |
PDB |
|
SCOP:d1k8kc_
|
9 |
56 |
2e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138922
|
| SMART Domains |
Protein: ENSMUSP00000115515
Gene: ENSMUSG00000029622
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2P9U|C
|
2 |
93 |
4e-43 |
PDB |
|
SCOP:d1k8kc_
|
35 |
93 |
2e-11 |
SMART |
|
Blast:WD40
|
50 |
87 |
3e-20 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144375
|
| Meta Mutation Damage Score |
0.5723 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (37/37) |
| 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 ARPC1A. 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. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
T |
7: 97,875,655 (GRCm39) |
L142M |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,916,012 (GRCm39) |
F1435L |
probably damaging |
Het |
| Anapc13 |
T |
C |
9: 102,511,292 (GRCm39) |
L60P |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,891,862 (GRCm39) |
D497G |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,261 (GRCm39) |
W1030R |
possibly damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
| Ddx10 |
A |
G |
9: 53,134,988 (GRCm39) |
Y399H |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,074 (GRCm39) |
E2988G |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,481,388 (GRCm39) |
I536M |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,797,910 (GRCm39) |
Y443H |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,082,564 (GRCm39) |
S50P |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,594,794 (GRCm39) |
Q164L |
possibly damaging |
Het |
| Exosc7 |
A |
G |
9: 122,961,077 (GRCm39) |
D248G |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,932,875 (GRCm39) |
L201P |
probably damaging |
Het |
| Hand2 |
C |
A |
8: 57,775,071 (GRCm39) |
H44N |
probably benign |
Het |
| Kcnq1 |
C |
T |
7: 142,748,064 (GRCm39) |
P411S |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,443,086 (GRCm39) |
D429G |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,992,536 (GRCm39) |
I312T |
possibly damaging |
Het |
| Mansc4 |
A |
T |
6: 146,988,371 (GRCm39) |
I31N |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,590,521 (GRCm39) |
D200E |
possibly damaging |
Het |
| Or5d47 |
G |
A |
2: 87,804,385 (GRCm39) |
A208V |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,769,435 (GRCm39) |
K41R |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,443 (GRCm39) |
D210N |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,907 (GRCm39) |
T416I |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,754,031 (GRCm39) |
Y166H |
probably damaging |
Het |
| Prrc1 |
A |
G |
18: 57,522,346 (GRCm39) |
T393A |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,791,260 (GRCm39) |
C213S |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,827,461 (GRCm39) |
I298V |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,075,693 (GRCm39) |
D31E |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,860,041 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,572,702 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,513,877 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,999 (GRCm39) |
Y1434* |
probably null |
Het |
| Zfp69 |
T |
C |
4: 120,788,394 (GRCm39) |
Y307C |
probably benign |
Het |
|
| Other mutations in Arpc1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01517:Arpc1b
|
APN |
5 |
145,064,679 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01625:Arpc1b
|
APN |
5 |
145,058,555 (GRCm39) |
splice site |
probably null |
|
|
IGL01859:Arpc1b
|
APN |
5 |
145,060,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
illusory
|
UTSW |
5 |
145,059,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Arpc1b
|
UTSW |
5 |
145,063,601 (GRCm39) |
frame shift |
probably null |
|
|
FR4340:Arpc1b
|
UTSW |
5 |
145,063,602 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Arpc1b
|
UTSW |
5 |
145,063,597 (GRCm39) |
frame shift |
probably null |
|
|
R0110:Arpc1b
|
UTSW |
5 |
145,064,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0245:Arpc1b
|
UTSW |
5 |
145,063,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:Arpc1b
|
UTSW |
5 |
145,064,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Arpc1b
|
UTSW |
5 |
145,063,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0827:Arpc1b
|
UTSW |
5 |
145,062,566 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1117:Arpc1b
|
UTSW |
5 |
145,062,564 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1453:Arpc1b
|
UTSW |
5 |
145,062,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Arpc1b
|
UTSW |
5 |
145,059,443 (GRCm39) |
missense |
probably null |
0.99 |
|
R1946:Arpc1b
|
UTSW |
5 |
145,059,443 (GRCm39) |
missense |
probably null |
0.99 |
|
R2050:Arpc1b
|
UTSW |
5 |
145,062,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Arpc1b
|
UTSW |
5 |
145,060,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4924:Arpc1b
|
UTSW |
5 |
145,063,625 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6883:Arpc1b
|
UTSW |
5 |
145,063,739 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8523:Arpc1b
|
UTSW |
5 |
145,061,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8854:Arpc1b
|
UTSW |
5 |
145,060,405 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTAACGGGACTTTTGCTAAC -3'
(R):5'- AAATCAACTGGGATCAGAGTCCTTTTC -3'
Sequencing Primer
(F):5'- GGACTTTTGCTAACACAGAGCTG -3'
(R):5'- GGGATCAGAGTCCTTTTCATTGCAAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation