Incidental Mutation 'R1404:Actl6a'
| ID |
188648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actl6a
|
| Ensembl Gene |
ENSMUSG00000027671 |
| Gene Name |
actin-like 6A |
| Synonyms |
ARP4, Actl6, 2810432C06Rik, Baf53a |
| MMRRC Submission |
039466-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1404 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32762695-32781122 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 32776759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029214]
[ENSMUST00000043966]
[ENSMUST00000126144]
[ENSMUST00000193615]
[ENSMUST00000194781]
|
| AlphaFold |
Q9Z2N8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029214
|
| SMART Domains |
Protein: ENSMUSP00000029214
Gene: ENSMUSG00000027671
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
11 |
429 |
1.37e-189 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043966
|
| SMART Domains |
Protein: ENSMUSP00000048078
Gene: ENSMUSG00000037531
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MRP-L47
|
66 |
151 |
4.6e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126144
|
| SMART Domains |
Protein: ENSMUSP00000114317
Gene: ENSMUSG00000027671
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
1 |
204 |
4.28e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153779
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193231
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193615
|
| SMART Domains |
Protein: ENSMUSP00000141354
Gene: ENSMUSG00000027671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Actin
|
8 |
60 |
1.5e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194781
|
| SMART Domains |
Protein: ENSMUSP00000141543
Gene: ENSMUSG00000027671
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
15 |
245 |
1.5e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
100% (28/28) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a family member of actin-related proteins (ARPs), which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a 53 kDa subunit protein of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality before E6.5. Mice homozygous for a conditional allele activated in hematopoietic cells exhibit bone marrow failure and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
| Aoc1l1 |
A |
T |
6: 48,952,767 (GRCm39) |
T231S |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,385,371 (GRCm39) |
|
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 81,031,973 (GRCm39) |
T69A |
probably damaging |
Het |
| Bbs2 |
T |
C |
8: 94,808,627 (GRCm39) |
K360R |
probably null |
Het |
| Cdh8 |
A |
T |
8: 100,006,250 (GRCm39) |
N112K |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,228,809 (GRCm39) |
F474I |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,915,876 (GRCm39) |
D253N |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,480 (GRCm39) |
D103G |
probably damaging |
Het |
| Fam227b |
A |
G |
2: 125,845,759 (GRCm39) |
L410P |
probably damaging |
Het |
| Ihh |
A |
T |
1: 74,990,372 (GRCm39) |
M1K |
probably null |
Het |
| Itga6 |
A |
G |
2: 71,669,060 (GRCm39) |
T617A |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,363,609 (GRCm39) |
C744S |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,311 (GRCm39) |
I208V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,937,387 (GRCm39) |
K659R |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,734,310 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,270,309 (GRCm39) |
E6612V |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,643,833 (GRCm39) |
K330E |
probably benign |
Het |
| Neb |
C |
T |
2: 52,073,287 (GRCm39) |
D1975N |
possibly damaging |
Het |
| Nell1 |
T |
A |
7: 50,503,621 (GRCm39) |
N675K |
possibly damaging |
Het |
| Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,504,026 (GRCm39) |
|
probably benign |
Het |
| Or4f47 |
G |
A |
2: 111,972,968 (GRCm39) |
R226H |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,625,003 (GRCm39) |
E737G |
possibly damaging |
Het |
| Sardh |
C |
A |
2: 27,129,473 (GRCm39) |
W275L |
probably damaging |
Het |
| Sel1l2 |
C |
T |
2: 140,071,979 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,176,712 (GRCm39) |
H1185Y |
probably damaging |
Het |
| Skp2 |
G |
A |
15: 9,117,012 (GRCm39) |
Q298* |
probably null |
Het |
| Spag16 |
G |
A |
1: 69,934,439 (GRCm39) |
|
probably benign |
Het |
| Spink14 |
A |
G |
18: 44,161,896 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,598,960 (GRCm39) |
I43L |
probably benign |
Het |
| Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,438,292 (GRCm39) |
M209V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,643,312 (GRCm39) |
S13202R |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,211 (GRCm39) |
V338D |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,263,471 (GRCm39) |
L767P |
probably damaging |
Het |
| Zfp202 |
C |
T |
9: 40,122,792 (GRCm39) |
T518I |
probably damaging |
Het |
|
| Other mutations in Actl6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01150:Actl6a
|
APN |
3 |
32,766,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01691:Actl6a
|
APN |
3 |
32,774,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02902:Actl6a
|
APN |
3 |
32,776,791 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0194:Actl6a
|
UTSW |
3 |
32,779,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1193:Actl6a
|
UTSW |
3 |
32,766,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1754:Actl6a
|
UTSW |
3 |
32,772,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4289:Actl6a
|
UTSW |
3 |
32,766,263 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5020:Actl6a
|
UTSW |
3 |
32,774,656 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5165:Actl6a
|
UTSW |
3 |
32,774,357 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5272:Actl6a
|
UTSW |
3 |
32,772,759 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5384:Actl6a
|
UTSW |
3 |
32,774,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Actl6a
|
UTSW |
3 |
32,772,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5722:Actl6a
|
UTSW |
3 |
32,772,194 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5865:Actl6a
|
UTSW |
3 |
32,766,277 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6208:Actl6a
|
UTSW |
3 |
32,766,043 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7094:Actl6a
|
UTSW |
3 |
32,760,487 (GRCm39) |
start gained |
probably benign |
|
|
R7192:Actl6a
|
UTSW |
3 |
32,774,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7866:Actl6a
|
UTSW |
3 |
32,766,262 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8734:Actl6a
|
UTSW |
3 |
32,774,104 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9022:Actl6a
|
UTSW |
3 |
32,769,649 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9075:Actl6a
|
UTSW |
3 |
32,769,641 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9209:Actl6a
|
UTSW |
3 |
32,779,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Actl6a
|
UTSW |
3 |
32,780,692 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
|
| Posted On |
2014-05-09 |
Incidental Mutation