Incidental Mutation 'R6761:Actr3b'
| ID |
531694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actr3b
|
| Ensembl Gene |
ENSMUSG00000056367 |
| Gene Name |
ARP3 actin-related protein 3B |
| Synonyms |
Arp3b, ARP11 |
| MMRRC Submission |
044877-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R6761 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
25964995-26055686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26030137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 67
(S67F)
|
| 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: S155F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367
AA Change: S155F
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
413 |
1.33e-178 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128727
AA Change: S67F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367
AA Change: S67F
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
1 |
325 |
1.27e-111 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (34/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
C |
17: 35,878,845 (GRCm39) |
V61A |
probably benign |
Het |
| Ap3m1 |
T |
C |
14: 21,088,096 (GRCm39) |
M107V |
probably benign |
Het |
| Ccdc27 |
C |
T |
4: 154,122,155 (GRCm39) |
G241D |
unknown |
Het |
| Cit |
T |
G |
5: 116,046,734 (GRCm39) |
D382E |
probably damaging |
Het |
| Clec3b |
G |
T |
9: 122,986,004 (GRCm39) |
G134V |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 47,026,307 (GRCm39) |
H44Q |
probably benign |
Het |
| Dst |
T |
C |
1: 34,253,631 (GRCm39) |
S4300P |
probably damaging |
Het |
| Ebna1bp2 |
C |
T |
4: 118,480,558 (GRCm39) |
R134* |
probably null |
Het |
| Efcab14 |
T |
C |
4: 115,596,024 (GRCm39) |
S57P |
probably damaging |
Het |
| Exosc2 |
T |
C |
2: 31,560,875 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
C |
5: 107,043,145 (GRCm39) |
T630A |
probably damaging |
Het |
| Hkdc1 |
A |
T |
10: 62,244,477 (GRCm39) |
I203N |
possibly damaging |
Het |
| Hltf |
T |
A |
3: 20,137,996 (GRCm39) |
|
probably null |
Het |
| Igkv3-2 |
G |
T |
6: 70,675,501 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,965,047 (GRCm39) |
D471G |
probably damaging |
Het |
| Msmo1 |
A |
G |
8: 65,172,061 (GRCm39) |
Y281H |
probably benign |
Het |
| Nid1 |
A |
G |
13: 13,656,620 (GRCm39) |
T584A |
probably benign |
Het |
| Olfr908 |
A |
G |
9: 38,427,561 (GRCm39) |
T78A |
probably damaging |
Het |
| Or52a24 |
C |
T |
7: 103,381,691 (GRCm39) |
A186V |
probably damaging |
Het |
| Otoa |
G |
A |
7: 120,721,173 (GRCm39) |
G396D |
probably damaging |
Het |
| Prss45 |
G |
T |
9: 110,669,487 (GRCm39) |
A197S |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,716,578 (GRCm39) |
H198L |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,768,104 (GRCm39) |
I314N |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,620,286 (GRCm39) |
M458T |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,945,714 (GRCm39) |
|
probably null |
Het |
| Sorbs2 |
T |
C |
8: 46,225,651 (GRCm39) |
S254P |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 178,016,144 (GRCm39) |
|
probably null |
Het |
| Tedc1 |
A |
G |
12: 113,125,334 (GRCm39) |
D252G |
probably damaging |
Het |
| Uty |
T |
C |
Y: 1,186,790 (GRCm39) |
H145R |
probably damaging |
Homo |
| Vmn1r9 |
A |
G |
6: 57,048,291 (GRCm39) |
Y122C |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,817,908 (GRCm39) |
N1491Y |
possibly damaging |
Het |
| Wdr37 |
T |
C |
13: 8,899,684 (GRCm39) |
T140A |
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 |
|
|
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 |
|
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 |
|
|
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'- TGAAGTGAAAACTGGCACGC -3'
(R):5'- CATGTTACTTGAGTAGGCTGCG -3'
Sequencing Primer
(F):5'- AACTGGCACGCAGGTTG -3'
(R):5'- AGGCTGCGTTTTAATTTGCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation