Incidental Mutation 'R5165:Actl6a'
| ID |
395638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actl6a
|
| Ensembl Gene |
ENSMUSG00000027671 |
| Gene Name |
actin-like 6A |
| Synonyms |
ARP4, Actl6, 2810432C06Rik, Baf53a |
| MMRRC Submission |
042746-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5165 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
32762695-32781122 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32774357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 285
(V285I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029214]
[ENSMUST00000126144]
[ENSMUST00000193615]
[ENSMUST00000194781]
|
| AlphaFold |
Q9Z2N8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029214
AA Change: V285I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000029214
Gene: ENSMUSG00000027671
AA Change: V285I
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
11 |
429 |
1.37e-189 |
SMART |
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.0639 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
T |
A |
6: 83,503,814 (GRCm39) |
I77F |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,457,190 (GRCm39) |
I646N |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,993,029 (GRCm39) |
I4771T |
possibly damaging |
Het |
| Alas1 |
T |
C |
9: 106,118,454 (GRCm39) |
T223A |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,151,684 (GRCm39) |
E2246G |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,489,105 (GRCm39) |
I795T |
probably benign |
Het |
| Ccn3 |
A |
G |
15: 54,612,585 (GRCm39) |
D198G |
probably damaging |
Het |
| Cdhr4 |
T |
C |
9: 107,874,829 (GRCm39) |
L633P |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,804,114 (GRCm39) |
S990P |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,526,789 (GRCm39) |
I66V |
possibly damaging |
Het |
| Cx3cl1 |
T |
C |
8: 95,506,504 (GRCm39) |
S170P |
probably benign |
Het |
| Cyth1 |
T |
C |
11: 118,059,908 (GRCm39) |
N353S |
possibly damaging |
Het |
| Dapp1 |
T |
C |
3: 137,644,976 (GRCm39) |
|
probably null |
Het |
| Dmwd |
G |
A |
7: 18,811,960 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,080 (GRCm39) |
H516R |
probably damaging |
Het |
| Efemp2 |
T |
C |
19: 5,525,439 (GRCm39) |
C39R |
probably damaging |
Het |
| Fnbp4 |
C |
G |
2: 90,608,001 (GRCm39) |
Q908E |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,840,212 (GRCm39) |
V26A |
probably damaging |
Het |
| Gkap1 |
A |
G |
13: 58,411,010 (GRCm39) |
|
probably null |
Het |
| Gstcd |
A |
C |
3: 132,790,440 (GRCm39) |
V109G |
probably damaging |
Het |
| Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcnj9 |
A |
T |
1: 172,150,724 (GRCm39) |
D296E |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 57,998,395 (GRCm39) |
Y68C |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,840,579 (GRCm39) |
M1179K |
probably benign |
Het |
| Lrfn5 |
T |
C |
12: 61,886,410 (GRCm39) |
I66T |
possibly damaging |
Het |
| Lrp12 |
A |
G |
15: 39,735,857 (GRCm39) |
S692P |
probably benign |
Het |
| Lrrc10 |
A |
T |
10: 116,881,965 (GRCm39) |
N213I |
probably benign |
Het |
| Nceh1 |
G |
A |
3: 27,295,677 (GRCm39) |
V313I |
probably benign |
Het |
| Nkx6-3 |
T |
A |
8: 23,643,759 (GRCm39) |
H53Q |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,550,092 (GRCm39) |
I53T |
probably benign |
Het |
| Or14j7 |
A |
G |
17: 38,235,252 (GRCm39) |
D265G |
probably benign |
Het |
| Or2y16 |
A |
G |
11: 49,335,203 (GRCm39) |
H175R |
probably damaging |
Het |
| Or4f53 |
T |
A |
2: 111,087,568 (GRCm39) |
V36E |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,564 (GRCm39) |
N193K |
probably benign |
Het |
| Oxct1 |
A |
T |
15: 4,083,251 (GRCm39) |
T157S |
possibly damaging |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,723 (GRCm39) |
E392G |
possibly damaging |
Het |
| Polr1a |
T |
G |
6: 71,944,909 (GRCm39) |
Y1322D |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,496,136 (GRCm39) |
S776T |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,307,832 (GRCm39) |
I1047V |
possibly damaging |
Het |
| Sertad4 |
A |
T |
1: 192,529,130 (GRCm39) |
S229T |
possibly damaging |
Het |
| Shank2 |
T |
A |
7: 143,963,373 (GRCm39) |
V327D |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,722,865 (GRCm39) |
V904E |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,907,953 (GRCm39) |
Y197N |
probably damaging |
Het |
| Smo |
T |
A |
6: 29,736,077 (GRCm39) |
L23Q |
unknown |
Het |
| Snx29 |
T |
A |
16: 11,238,639 (GRCm39) |
M23K |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,881,761 (GRCm39) |
S366P |
probably benign |
Het |
| Tomm40 |
A |
G |
7: 19,447,592 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
T |
C |
5: 120,696,010 (GRCm39) |
E81G |
probably damaging |
Het |
| Trappc1 |
A |
G |
11: 69,215,060 (GRCm39) |
Q26R |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,606,900 (GRCm39) |
|
probably null |
Het |
| Usp25 |
T |
A |
16: 76,873,293 (GRCm39) |
D450E |
possibly damaging |
Het |
| Zmynd19 |
T |
A |
2: 24,848,201 (GRCm39) |
Y132* |
probably null |
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 |
|
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 |
PCR Primer
(F):5'- GAAGGGTTGTAGACTGTTAGCC -3'
(R):5'- GAGAATGCAGGTGTTTCTGAAC -3'
Sequencing Primer
(F):5'- GGTTGTAGACTGTTAGCCTGAAAAC -3'
(R):5'- ACCTACTGGCAAACTGAGTCTTATC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation