Incidental Mutation 'IGL01150:Actl6a'
| ID |
50808 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actl6a
|
| Ensembl Gene |
ENSMUSG00000027671 |
| Gene Name |
actin-like 6A |
| Synonyms |
ARP4, Actl6, 2810432C06Rik, Baf53a |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01150
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
32762695-32781122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32766313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 60
(I60V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029214]
[ENSMUST00000126144]
[ENSMUST00000193615]
[ENSMUST00000194781]
|
| AlphaFold |
Q9Z2N8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029214
AA Change: I56V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029214
Gene: ENSMUSG00000027671
AA Change: I56V
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
11 |
429 |
1.37e-189 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126144
AA Change: I4V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000114317
Gene: ENSMUSG00000027671
AA Change: I4V
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
1 |
204 |
4.28e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135400
|
| 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: ENSMUST00000194226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194781
AA Change: I60V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000141543
Gene: ENSMUSG00000027671
AA Change: I60V
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
15 |
245 |
1.5e-32 |
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 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,752,550 (GRCm39) |
D507G |
possibly damaging |
Het |
| Adra2c |
T |
C |
5: 35,438,485 (GRCm39) |
F419S |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,918,618 (GRCm39) |
Y105C |
probably damaging |
Het |
| Arid4b |
C |
T |
13: 14,369,959 (GRCm39) |
Q1152* |
probably null |
Het |
| Arsj |
A |
G |
3: 126,232,433 (GRCm39) |
D393G |
probably benign |
Het |
| Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
C |
T |
14: 28,905,598 (GRCm39) |
V390I |
possibly damaging |
Het |
| Ccdc25 |
T |
A |
14: 66,097,651 (GRCm39) |
M195K |
possibly damaging |
Het |
| Cdhr2 |
T |
A |
13: 54,878,931 (GRCm39) |
S979T |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,269,630 (GRCm39) |
F390S |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,969,583 (GRCm39) |
V290A |
probably benign |
Het |
| Ebf1 |
T |
C |
11: 44,759,927 (GRCm39) |
L188P |
probably damaging |
Het |
| Galt |
T |
C |
4: 41,757,786 (GRCm39) |
|
probably benign |
Het |
| Gm12830 |
C |
T |
4: 114,702,261 (GRCm39) |
T141I |
unknown |
Het |
| Herc2 |
T |
A |
7: 55,830,881 (GRCm39) |
W2965R |
probably damaging |
Het |
| Hrg |
A |
G |
16: 22,777,909 (GRCm39) |
|
probably null |
Het |
| Ighv8-5 |
T |
C |
12: 115,031,194 (GRCm39) |
Y115C |
probably damaging |
Het |
| Igkv12-89 |
A |
G |
6: 68,812,127 (GRCm39) |
V14A |
probably benign |
Het |
| Nav2 |
A |
C |
7: 49,102,269 (GRCm39) |
T295P |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,593,472 (GRCm39) |
V719A |
probably benign |
Het |
| Nrg1 |
G |
A |
8: 32,407,903 (GRCm39) |
T110I |
probably damaging |
Het |
| Or4c31 |
T |
C |
2: 88,292,419 (GRCm39) |
V264A |
possibly damaging |
Het |
| Or51h1 |
A |
C |
7: 102,308,699 (GRCm39) |
K224Q |
probably benign |
Het |
| Or7g29 |
A |
T |
9: 19,286,535 (GRCm39) |
I214N |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,726,926 (GRCm39) |
|
probably benign |
Het |
| Polg2 |
T |
C |
11: 106,668,258 (GRCm39) |
|
probably null |
Het |
| Ptges |
G |
T |
2: 30,782,720 (GRCm39) |
R111S |
probably damaging |
Het |
| Rbbp4 |
T |
C |
4: 129,216,668 (GRCm39) |
|
probably benign |
Het |
| Rundc3a |
T |
C |
11: 102,284,602 (GRCm39) |
V34A |
probably benign |
Het |
| Scn3a |
C |
A |
2: 65,327,709 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
T |
C |
11: 4,026,238 (GRCm39) |
|
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,534,047 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
A |
4: 58,070,302 (GRCm39) |
I2495F |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,393,154 (GRCm39) |
S71P |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem161b |
C |
T |
13: 84,440,526 (GRCm39) |
R133* |
probably null |
Het |
| Tnnc2 |
A |
T |
2: 164,619,753 (GRCm39) |
I71N |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,875,845 (GRCm39) |
N1554S |
probably benign |
Het |
| Wfdc3 |
A |
T |
2: 164,574,123 (GRCm39) |
|
probably benign |
Het |
| Zfp648 |
A |
T |
1: 154,081,110 (GRCm39) |
H423L |
probably damaging |
Het |
|
| Other mutations in Actl6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1404:Actl6a
|
UTSW |
3 |
32,776,759 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation