Incidental Mutation 'R0443:Actr3b'
| ID |
39267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actr3b
|
| Ensembl Gene |
ENSMUSG00000056367 |
| Gene Name |
ARP3 actin-related protein 3B |
| Synonyms |
Arp3b, ARP11 |
| MMRRC Submission |
038644-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R0443 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
25964995-26055686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 26053409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 246
(R246L)
|
| 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: R334L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000085578
Gene: ENSMUSG00000056367
AA Change: R334L
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
413 |
1.33e-178 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128727
AA Change: R246L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121629
Gene: ENSMUSG00000056367
AA Change: R246L
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
1 |
325 |
1.27e-111 |
SMART |
|
| Meta Mutation Damage Score |
0.9742 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
96% (52/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,119,653 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
A |
G |
18: 36,777,652 (GRCm39) |
S1612G |
possibly damaging |
Het |
| Caskin1 |
C |
T |
17: 24,724,374 (GRCm39) |
A1054V |
probably damaging |
Het |
| Casz1 |
T |
C |
4: 149,033,368 (GRCm39) |
V1380A |
possibly damaging |
Het |
| Ccn2 |
T |
C |
10: 24,471,701 (GRCm39) |
|
probably benign |
Het |
| Cnot6l |
T |
G |
5: 96,239,604 (GRCm39) |
|
probably benign |
Het |
| Crat |
T |
C |
2: 30,293,640 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
C |
T |
5: 122,025,500 (GRCm39) |
R56H |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
G |
T |
9: 7,167,244 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 77,999,118 (GRCm39) |
|
probably benign |
Het |
| Ergic3 |
G |
A |
2: 155,858,707 (GRCm39) |
V278M |
probably benign |
Het |
| Fam20b |
A |
T |
1: 156,509,023 (GRCm39) |
D396E |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,594,633 (GRCm39) |
|
probably benign |
Het |
| Golga1 |
A |
T |
2: 38,908,453 (GRCm39) |
S749T |
probably damaging |
Het |
| Gsdma2 |
C |
T |
11: 98,548,514 (GRCm39) |
T255I |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 115,128,996 (GRCm39) |
D554V |
probably benign |
Het |
| Itgam |
C |
T |
7: 127,680,806 (GRCm39) |
A245V |
probably damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,243 (GRCm39) |
T161A |
probably benign |
Het |
| Map3k19 |
A |
T |
1: 127,750,152 (GRCm39) |
N1066K |
probably benign |
Het |
| Ms4a6b |
A |
G |
19: 11,499,044 (GRCm39) |
I53V |
possibly damaging |
Het |
| Mtf1 |
C |
T |
4: 124,718,075 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,051,489 (GRCm39) |
|
probably null |
Het |
| Nop9 |
A |
G |
14: 55,991,205 (GRCm39) |
S621G |
probably benign |
Het |
| Or1e19 |
A |
G |
11: 73,316,581 (GRCm39) |
V76A |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,023 (GRCm39) |
V149A |
probably benign |
Het |
| Or9a2 |
T |
A |
6: 41,748,829 (GRCm39) |
I135F |
possibly damaging |
Het |
| Pacs1 |
A |
T |
19: 5,322,611 (GRCm39) |
Y102* |
probably null |
Het |
| Pcdhb10 |
A |
C |
18: 37,545,485 (GRCm39) |
D187A |
probably damaging |
Het |
| Pih1d2 |
A |
G |
9: 50,532,403 (GRCm39) |
R170G |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,235,865 (GRCm39) |
H179R |
probably damaging |
Het |
| Pknox1 |
A |
G |
17: 31,811,193 (GRCm39) |
S156G |
probably damaging |
Het |
| Prkcz |
T |
A |
4: 155,353,597 (GRCm39) |
D250V |
probably damaging |
Het |
| Psg16 |
T |
A |
7: 16,829,088 (GRCm39) |
I224N |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,641,661 (GRCm39) |
|
probably benign |
Het |
| Slc25a40 |
T |
A |
5: 8,497,348 (GRCm39) |
S229T |
probably benign |
Het |
| Slc43a2 |
T |
C |
11: 75,435,493 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tas2r129 |
G |
T |
6: 132,928,159 (GRCm39) |
C32F |
probably benign |
Het |
| Tfap2d |
C |
T |
1: 19,174,591 (GRCm39) |
R15C |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,523,884 (GRCm39) |
S39G |
probably benign |
Het |
| Trpc2 |
A |
G |
7: 101,742,727 (GRCm39) |
|
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,208,439 (GRCm39) |
F144S |
probably benign |
Het |
| Twnk |
G |
T |
19: 44,996,578 (GRCm39) |
G337V |
possibly damaging |
Het |
| Uvssa |
A |
G |
5: 33,546,168 (GRCm39) |
R180G |
possibly damaging |
Het |
| Vmn1r197 |
T |
A |
13: 22,512,241 (GRCm39) |
I54K |
possibly damaging |
Het |
| Vmn1r71 |
G |
A |
7: 10,482,238 (GRCm39) |
T84I |
probably benign |
Het |
| Zbtb49 |
T |
C |
5: 38,358,174 (GRCm39) |
E693G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGCAGTCTGCCTTCAACTC -3'
(R):5'- TCAGACAAATCACAGGGCGTAGC -3'
Sequencing Primer
(F):5'- TGCCTTCAACTCCGACAGG -3'
(R):5'- TGGTCACACACACTGATGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation