Incidental Mutation 'R3078:Actr3b'
| ID |
265286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actr3b
|
| Ensembl Gene |
ENSMUSG00000056367 |
| Gene Name |
ARP3 actin-related protein 3B |
| Synonyms |
Arp3b, ARP11 |
| MMRRC Submission |
040568-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.728)
|
| Stock # |
R3078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
25964995-26055686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26027440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 37
(Y37C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088244]
[ENSMUST00000128727]
|
| AlphaFold |
Q641P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088244
AA Change: Y125C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367
AA Change: Y125C
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
413 |
1.33e-178 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128727
AA Change: Y37C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367
AA Change: Y37C
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
1 |
325 |
1.27e-111 |
SMART |
|
| Meta Mutation Damage Score |
0.2989 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
93% (42/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Alg10b |
T |
C |
15: 90,112,139 (GRCm39) |
S328P |
probably benign |
Het |
| C5ar2 |
G |
A |
7: 15,971,349 (GRCm39) |
R193C |
probably damaging |
Het |
| Cct8 |
A |
G |
16: 87,285,765 (GRCm39) |
V231A |
possibly damaging |
Het |
| Clca4a |
C |
T |
3: 144,674,014 (GRCm39) |
M240I |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,185,435 (GRCm39) |
I3520N |
probably damaging |
Het |
| Dock6 |
G |
T |
9: 21,757,050 (GRCm39) |
|
probably benign |
Het |
| Dynlrb1 |
T |
A |
2: 155,091,865 (GRCm39) |
I99N |
probably damaging |
Het |
| Ebf4 |
G |
A |
2: 130,148,419 (GRCm39) |
D77N |
probably damaging |
Het |
| Fbxw10 |
C |
T |
11: 62,758,339 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
T |
C |
2: 98,494,197 (GRCm39) |
I113T |
probably damaging |
Het |
| Gm5499 |
T |
C |
17: 87,386,314 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9913 |
A |
G |
2: 125,348,459 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,786,991 (GRCm39) |
N1612S |
probably benign |
Het |
| Ifnar2 |
T |
C |
16: 91,182,889 (GRCm39) |
S53P |
possibly damaging |
Het |
| Inpp5j |
T |
A |
11: 3,453,124 (GRCm39) |
|
probably null |
Het |
| Insyn2a |
A |
G |
7: 134,519,750 (GRCm39) |
I260T |
probably benign |
Het |
| Iqca1l |
G |
C |
5: 24,751,664 (GRCm39) |
T528S |
probably benign |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Med28 |
A |
G |
5: 45,679,820 (GRCm39) |
T68A |
possibly damaging |
Het |
| Meis1 |
A |
T |
11: 18,961,254 (GRCm39) |
N206K |
probably benign |
Het |
| Mfsd14a |
T |
C |
3: 116,441,566 (GRCm39) |
|
probably benign |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,365,310 (GRCm39) |
Y413C |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,100,237 (GRCm39) |
D1599G |
probably benign |
Het |
| Myoz1 |
T |
C |
14: 20,703,685 (GRCm39) |
|
probably benign |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,182 (GRCm39) |
Y306N |
probably damaging |
Het |
| Nrxn3 |
T |
G |
12: 89,227,186 (GRCm39) |
C274G |
probably damaging |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or5ac22 |
A |
T |
16: 59,135,089 (GRCm39) |
M227K |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,645,373 (GRCm39) |
T403A |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,458,042 (GRCm39) |
I643V |
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,344,895 (GRCm39) |
L167P |
possibly damaging |
Het |
| Stau1 |
T |
C |
2: 166,796,936 (GRCm39) |
I154V |
possibly damaging |
Het |
| Ugcg |
T |
G |
4: 59,213,922 (GRCm39) |
V168G |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,042,053 (GRCm39) |
I221V |
probably benign |
Het |
| Wdr93 |
T |
C |
7: 79,402,241 (GRCm39) |
I180T |
possibly damaging |
Het |
| Whamm |
G |
C |
7: 81,221,532 (GRCm39) |
G155R |
probably damaging |
Het |
| Wnt5a |
T |
A |
14: 28,235,140 (GRCm39) |
Y41* |
probably null |
Het |
|
| Other mutations in Actr3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02457:Actr3b
|
APN |
5 |
26,054,160 (GRCm39) |
splice site |
probably null |
|
|
IGL02582:Actr3b
|
APN |
5 |
26,037,411 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02869:Actr3b
|
APN |
5 |
26,037,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02946:Actr3b
|
APN |
5 |
26,053,481 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0443:Actr3b
|
UTSW |
5 |
26,053,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0446:Actr3b
|
UTSW |
5 |
26,036,730 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0727:Actr3b
|
UTSW |
5 |
26,016,937 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1070:Actr3b
|
UTSW |
5 |
26,053,491 (GRCm39) |
splice site |
probably benign |
|
|
R1643:Actr3b
|
UTSW |
5 |
26,017,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Actr3b
|
UTSW |
5 |
26,054,156 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1837:Actr3b
|
UTSW |
5 |
26,030,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1899:Actr3b
|
UTSW |
5 |
26,034,536 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2041:Actr3b
|
UTSW |
5 |
25,965,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2096:Actr3b
|
UTSW |
5 |
26,036,743 (GRCm39) |
nonsense |
probably null |
|
|
R2109:Actr3b
|
UTSW |
5 |
26,036,709 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2256:Actr3b
|
UTSW |
5 |
26,027,403 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5572:Actr3b
|
UTSW |
5 |
26,014,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5655:Actr3b
|
UTSW |
5 |
26,053,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Actr3b
|
UTSW |
5 |
26,036,688 (GRCm39) |
missense |
probably benign |
|
|
R6761:Actr3b
|
UTSW |
5 |
26,030,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Actr3b
|
UTSW |
5 |
26,003,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7043:Actr3b
|
UTSW |
5 |
26,054,936 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7649:Actr3b
|
UTSW |
5 |
26,053,364 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7897:Actr3b
|
UTSW |
5 |
26,036,657 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8691:Actr3b
|
UTSW |
5 |
26,030,202 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9647:Actr3b
|
UTSW |
5 |
26,037,408 (GRCm39) |
missense |
probably benign |
|
|
R9797:Actr3b
|
UTSW |
5 |
26,054,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF049:Actr3b
|
UTSW |
5 |
26,053,486 (GRCm39) |
critical splice donor site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCATGAGAGCAGAAGCCC -3'
(R):5'- CAGTGGTAGTTATGAGTGTCTAGCC -3'
Sequencing Primer
(F):5'- CTTTGAAGACCCACAGTAGGCG -3'
(R):5'- GATAACAACGTGGGGTTT -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation