Incidental Mutation 'R5272:Actl6a'
| ID |
400391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actl6a
|
| Ensembl Gene |
ENSMUSG00000027671 |
| Gene Name |
actin-like 6A |
| Synonyms |
ARP4, Actl6, 2810432C06Rik, Baf53a |
| MMRRC Submission |
042836-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5272 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32762695-32781122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32772759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 245
(E245G)
|
| 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: E241G
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000029214
Gene: ENSMUSG00000027671
AA Change: E241G
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
11 |
429 |
1.37e-189 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126144
AA Change: E189G
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000114317
Gene: ENSMUSG00000027671
AA Change: E189G
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
1 |
204 |
4.28e-11 |
SMART |
|
| 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 damaging
Transcript: ENSMUST00000194781
AA Change: E245G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141543
Gene: ENSMUSG00000027671
AA Change: E245G
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
15 |
245 |
1.5e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsb |
A |
T |
13: 93,930,670 (GRCm39) |
T213S |
possibly damaging |
Het |
| Cep152 |
G |
A |
2: 125,452,950 (GRCm39) |
T374I |
probably benign |
Het |
| Crx |
C |
T |
7: 15,602,210 (GRCm39) |
C156Y |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,249,958 (GRCm39) |
T1007S |
probably damaging |
Het |
| Cyp19a1 |
A |
T |
9: 54,083,898 (GRCm39) |
C164S |
probably benign |
Het |
| Ddx55 |
A |
T |
5: 124,696,092 (GRCm39) |
I137F |
possibly damaging |
Het |
| Dgkg |
C |
A |
16: 22,407,044 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
G |
12: 104,670,499 (GRCm39) |
I1022T |
probably damaging |
Het |
| Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,350,811 (GRCm39) |
V2611A |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,104,844 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
A |
T |
14: 32,240,985 (GRCm39) |
K170* |
probably null |
Het |
| Fibcd1 |
A |
T |
2: 31,706,635 (GRCm39) |
C399S |
probably damaging |
Het |
| Fibcd1 |
G |
T |
2: 31,706,636 (GRCm39) |
N398K |
probably damaging |
Het |
| Fnbp4 |
G |
A |
2: 90,583,459 (GRCm39) |
M327I |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,222,479 (GRCm39) |
L256* |
probably null |
Het |
| Galr1 |
T |
A |
18: 82,423,761 (GRCm39) |
Y172F |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,920,115 (GRCm39) |
N186S |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,212,043 (GRCm39) |
I614V |
probably damaging |
Het |
| Krt23 |
A |
T |
11: 99,369,099 (GRCm39) |
I398N |
probably damaging |
Het |
| Mia3 |
G |
A |
1: 183,109,125 (GRCm39) |
R656* |
probably null |
Het |
| Mup6 |
G |
C |
4: 60,005,922 (GRCm39) |
G138A |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,268,839 (GRCm39) |
V521A |
possibly damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Nphs1 |
A |
G |
7: 30,181,067 (GRCm39) |
E1096G |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Panx1 |
C |
T |
9: 14,956,152 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
A |
G |
18: 37,440,819 (GRCm39) |
Y43C |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,617,156 (GRCm39) |
Y62H |
probably damaging |
Het |
| Rab40b |
A |
G |
11: 121,248,134 (GRCm39) |
V190A |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,483,558 (GRCm39) |
E4063G |
probably damaging |
Het |
| Smlr1 |
T |
C |
10: 25,411,925 (GRCm39) |
I21V |
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,523,410 (GRCm39) |
Y1614N |
probably damaging |
Het |
| Tesmin |
C |
A |
19: 3,456,992 (GRCm39) |
A257E |
probably damaging |
Het |
| Tgif1 |
A |
G |
17: 71,153,249 (GRCm39) |
L34P |
probably damaging |
Het |
| Ticrr |
C |
A |
7: 79,319,353 (GRCm39) |
T446K |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,160,276 (GRCm39) |
I187T |
probably benign |
Het |
| Tpst2 |
T |
A |
5: 112,455,818 (GRCm39) |
V119E |
probably damaging |
Het |
| Trf |
A |
T |
9: 103,105,177 (GRCm39) |
M45K |
probably damaging |
Het |
| Trim45 |
T |
C |
3: 100,837,235 (GRCm39) |
C524R |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,049,972 (GRCm39) |
V293I |
probably damaging |
Het |
| Ugt1a6b |
C |
T |
1: 88,034,949 (GRCm39) |
R96C |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,894,264 (GRCm39) |
Q222R |
probably benign |
Het |
| Zfp148 |
T |
A |
16: 33,316,594 (GRCm39) |
V380D |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TGGAGACTTCATTACCATGCAG -3'
(R):5'- ATAACATGGCCGTCTCTGTCC -3'
Sequencing Primer
(F):5'- TGCAGTGCAGAGAACTCTTC -3'
(R):5'- TCTCTGTCCAATCCCAAGGCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation