Incidental Mutation 'IGL00715:Actr3'
| ID |
8562 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actr3
|
| Ensembl Gene |
ENSMUSG00000026341 |
| Gene Name |
ARP3 actin-related protein 3 |
| Synonyms |
Arp3, 1200003A09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00715
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
125320642-125363464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 125322813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 385
(A385T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027579]
[ENSMUST00000178474]
[ENSMUST00000191578]
|
| AlphaFold |
Q99JY9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027579
AA Change: A385T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027579
Gene: ENSMUSG00000026341
AA Change: A385T
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
413 |
1.62e-186 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178474
AA Change: A385T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137503
Gene: ENSMUSG00000026341
AA Change: A385T
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
413 |
1.62e-186 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188362
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191578
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele die prior to E4.5 and exhibit abnormal embryogenesis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Gene trapped(12)
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh17 |
A |
T |
4: 11,797,780 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
C |
T |
11: 101,074,031 (GRCm39) |
|
probably benign |
Het |
| Dhrs7 |
T |
A |
12: 72,699,164 (GRCm39) |
M296L |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,716,282 (GRCm39) |
K102* |
probably null |
Het |
| Foxn3 |
T |
C |
12: 99,162,866 (GRCm39) |
E345G |
possibly damaging |
Het |
| Gabrg1 |
A |
G |
5: 70,973,298 (GRCm39) |
|
probably null |
Het |
| Gp1ba |
A |
C |
11: 70,530,744 (GRCm39) |
|
probably benign |
Het |
| Grwd1 |
A |
G |
7: 45,480,037 (GRCm39) |
Y57H |
probably damaging |
Het |
| Hars2 |
G |
A |
18: 36,918,989 (GRCm39) |
C83Y |
probably damaging |
Het |
| Il5ra |
C |
T |
6: 106,689,435 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,302,603 (GRCm39) |
V87A |
probably benign |
Het |
| Lrig2 |
A |
G |
3: 104,371,264 (GRCm39) |
V455A |
probably damaging |
Het |
| P2ry10 |
T |
A |
X: 106,146,189 (GRCm39) |
S41R |
probably damaging |
Het |
| Plcb2 |
C |
T |
2: 118,544,215 (GRCm39) |
|
probably null |
Het |
| Plod2 |
G |
A |
9: 92,480,667 (GRCm39) |
R420H |
probably damaging |
Het |
| Prkcd |
T |
C |
14: 30,317,960 (GRCm39) |
N656S |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,115,495 (GRCm39) |
F42S |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,841,457 (GRCm39) |
I786T |
probably damaging |
Het |
| Slc5a11 |
C |
T |
7: 122,849,397 (GRCm39) |
A194V |
probably null |
Het |
| Spo11 |
T |
C |
2: 172,830,825 (GRCm39) |
|
probably null |
Het |
| Trap1a |
A |
G |
X: 138,234,983 (GRCm39) |
D94G |
unknown |
Het |
| Urb1 |
A |
G |
16: 90,550,209 (GRCm39) |
|
probably null |
Het |
| Usp1 |
T |
C |
4: 98,822,818 (GRCm39) |
|
probably null |
Het |
| Zfp300 |
T |
C |
X: 20,950,493 (GRCm39) |
D34G |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,137 (GRCm39) |
E302G |
possibly damaging |
Het |
|
| Other mutations in Actr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Actr3
|
APN |
1 |
125,324,966 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00574:Actr3
|
APN |
1 |
125,339,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01139:Actr3
|
APN |
1 |
125,333,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01897:Actr3
|
APN |
1 |
125,346,025 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
P0023:Actr3
|
UTSW |
1 |
125,322,803 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0217:Actr3
|
UTSW |
1 |
125,335,150 (GRCm39) |
splice site |
probably benign |
|
|
R0660:Actr3
|
UTSW |
1 |
125,336,304 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1494:Actr3
|
UTSW |
1 |
125,344,018 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1582:Actr3
|
UTSW |
1 |
125,333,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1589:Actr3
|
UTSW |
1 |
125,336,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3432:Actr3
|
UTSW |
1 |
125,321,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5810:Actr3
|
UTSW |
1 |
125,344,116 (GRCm39) |
intron |
probably benign |
|
|
R6089:Actr3
|
UTSW |
1 |
125,335,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6276:Actr3
|
UTSW |
1 |
125,322,874 (GRCm39) |
missense |
probably benign |
|
|
R7120:Actr3
|
UTSW |
1 |
125,331,169 (GRCm39) |
nonsense |
probably null |
|
|
R9533:Actr3
|
UTSW |
1 |
125,339,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation