Incidental Mutation 'IGL02582:Actr3b'
| ID |
299373 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actr3b
|
| Ensembl Gene |
ENSMUSG00000056367 |
| Gene Name |
ARP3 actin-related protein 3B |
| Synonyms |
Arp3b, ARP11 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
IGL02582
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
25964995-26055686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26037411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 208
(I208V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088244]
[ENSMUST00000128727]
|
| AlphaFold |
Q641P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088244
AA Change: I296V
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367
AA Change: I296V
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
413 |
1.33e-178 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128727
AA Change: I208V
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367
AA Change: I208V
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
1 |
325 |
1.27e-111 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
A |
9: 53,506,045 (GRCm39) |
I92F |
probably benign |
Het |
| Car12 |
T |
C |
9: 66,621,159 (GRCm39) |
V10A |
probably benign |
Het |
| Ccdc171 |
C |
A |
4: 83,661,255 (GRCm39) |
R1122S |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,742,539 (GRCm39) |
V136A |
probably damaging |
Het |
| Cilp2 |
G |
T |
8: 70,333,936 (GRCm39) |
Q1021K |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,020,247 (GRCm39) |
T206N |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,141 (GRCm39) |
I2328K |
possibly damaging |
Het |
| Ctns |
A |
G |
11: 73,087,478 (GRCm39) |
F16S |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,453,172 (GRCm39) |
K276E |
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,294,840 (GRCm39) |
Q118L |
probably benign |
Het |
| Elf1 |
T |
C |
14: 79,773,819 (GRCm39) |
L10P |
probably damaging |
Het |
| Exosc5 |
T |
C |
7: 25,364,988 (GRCm39) |
|
probably null |
Het |
| Fam163b |
C |
T |
2: 27,003,570 (GRCm39) |
C28Y |
probably damaging |
Het |
| Fam180a |
G |
T |
6: 35,290,647 (GRCm39) |
A112E |
possibly damaging |
Het |
| Fam3b |
A |
T |
16: 97,272,391 (GRCm39) |
Y89* |
probably null |
Het |
| Gcg |
C |
T |
2: 62,308,922 (GRCm39) |
W77* |
probably null |
Het |
| Gm17472 |
G |
A |
6: 42,957,832 (GRCm39) |
V34I |
possibly damaging |
Het |
| Klhl23 |
T |
A |
2: 69,654,582 (GRCm39) |
C151S |
probably damaging |
Het |
| Mdh1b |
T |
A |
1: 63,758,756 (GRCm39) |
I279F |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,764,701 (GRCm39) |
I375N |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,937,997 (GRCm39) |
I206N |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,821,133 (GRCm39) |
E456G |
possibly damaging |
Het |
| Nat8 |
G |
A |
6: 85,807,783 (GRCm39) |
Q117* |
probably null |
Het |
| Nlrp4g |
A |
C |
9: 124,349,764 (GRCm38) |
|
noncoding transcript |
Het |
| Nmt1 |
G |
T |
11: 102,955,625 (GRCm39) |
G468C |
possibly damaging |
Het |
| Nobox |
G |
T |
6: 43,281,973 (GRCm39) |
Q367K |
possibly damaging |
Het |
| Nusap1 |
A |
G |
2: 119,479,470 (GRCm39) |
*428W |
probably null |
Het |
| Or12j4 |
T |
C |
7: 140,046,560 (GRCm39) |
F149L |
probably benign |
Het |
| Or4c126 |
G |
A |
2: 89,824,656 (GRCm39) |
M306I |
probably benign |
Het |
| Pbp2 |
T |
C |
6: 135,287,147 (GRCm39) |
I67V |
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,488,427 (GRCm39) |
M35R |
possibly damaging |
Het |
| Pkp1 |
T |
C |
1: 135,817,664 (GRCm39) |
E157G |
probably damaging |
Het |
| Pomgnt1 |
C |
T |
4: 116,015,747 (GRCm39) |
L560F |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 75,865,361 (GRCm39) |
R1446S |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,479,860 (GRCm39) |
T1137A |
probably benign |
Het |
| Sec22c |
T |
C |
9: 121,514,630 (GRCm39) |
I153V |
probably benign |
Het |
| Slc30a5 |
C |
T |
13: 100,949,155 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
T |
C |
11: 60,669,721 (GRCm39) |
S290P |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,212,612 (GRCm39) |
L261V |
probably benign |
Het |
| Stk38l |
T |
C |
6: 146,668,321 (GRCm39) |
|
probably null |
Het |
| Themis |
T |
C |
10: 28,637,543 (GRCm39) |
F216L |
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,309,536 (GRCm39) |
|
probably benign |
Het |
| Usp17lb |
C |
A |
7: 104,489,937 (GRCm39) |
C330F |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,724 (GRCm39) |
L355H |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,653,341 (GRCm39) |
C82S |
probably benign |
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 |
|
|
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 |
|
R3078:Actr3b
|
UTSW |
5 |
26,027,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation