Incidental Mutation 'R1621:Actl6b'
| ID |
174660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actl6b
|
| Ensembl Gene |
ENSMUSG00000029712 |
| Gene Name |
actin-like 6B |
| Synonyms |
Baf53b, Actl6, ArpNa |
| MMRRC Submission |
039658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.842)
|
| Stock # |
R1621 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137551779-137567844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137564041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 253
(N253S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031725]
[ENSMUST00000031729]
[ENSMUST00000136088]
[ENSMUST00000136565]
[ENSMUST00000139395]
[ENSMUST00000196471]
[ENSMUST00000198601]
[ENSMUST00000198866]
[ENSMUST00000199054]
|
| AlphaFold |
Q99MR0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031725
AA Change: N253S
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031725
Gene: ENSMUSG00000029712
AA Change: N253S
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
11 |
379 |
4.16e-116 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031729
|
| SMART Domains |
Protein: ENSMUSP00000031729
Gene: ENSMUSG00000029716
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
Pfam:PA
|
235 |
326 |
2.2e-12 |
PFAM |
|
Pfam:Peptidase_M28
|
407 |
618 |
2.9e-16 |
PFAM |
|
Pfam:TFR_dimer
|
664 |
788 |
5.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136088
|
| SMART Domains |
Protein: ENSMUSP00000117138
Gene: ENSMUSG00000029712
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Actin
|
1 |
75 |
4.1e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136565
|
| SMART Domains |
Protein: ENSMUSP00000117425
Gene: ENSMUSG00000029712
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Actin
|
1 |
116 |
1.3e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139395
AA Change: N253S
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119356
Gene: ENSMUSG00000029712
AA Change: N253S
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
11 |
426 |
5.96e-167 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196471
|
| SMART Domains |
Protein: ENSMUSP00000142814
Gene: ENSMUSG00000029716
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
Pfam:PA
|
231 |
328 |
1.3e-12 |
PFAM |
|
Pfam:Peptidase_M28
|
418 |
606 |
7.5e-15 |
PFAM |
|
low complexity region
|
612 |
625 |
N/A |
INTRINSIC |
|
Pfam:TFR_dimer
|
663 |
790 |
1.8e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200190
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198866
|
| SMART Domains |
Protein: ENSMUSP00000142720
Gene: ENSMUSG00000029716
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
Pfam:PA
|
231 |
328 |
1.3e-12 |
PFAM |
|
Pfam:Peptidase_M28
|
418 |
606 |
7.5e-15 |
PFAM |
|
low complexity region
|
612 |
625 |
N/A |
INTRINSIC |
|
Pfam:TFR_dimer
|
663 |
790 |
1.8e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199054
|
| SMART Domains |
Protein: ENSMUSP00000142478
Gene: ENSMUSG00000029716
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
Pfam:PA
|
231 |
328 |
1.3e-12 |
PFAM |
|
Pfam:Peptidase_M28
|
418 |
606 |
7.5e-15 |
PFAM |
|
low complexity region
|
612 |
625 |
N/A |
INTRINSIC |
|
Pfam:TFR_dimer
|
663 |
790 |
1.8e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 84.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family 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 subunit 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. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for null mutations exhibit low survivor rate and most die within 2 days after birth and show hyperactivity due to reduced dendrite formation in neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
G |
A |
5: 89,869,560 (GRCm39) |
H272Y |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,913 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,977,245 (GRCm39) |
V4333I |
probably benign |
Het |
| Cd38 |
A |
G |
5: 44,058,866 (GRCm39) |
D160G |
probably benign |
Het |
| Cdc7 |
A |
G |
5: 107,112,920 (GRCm39) |
S13G |
probably benign |
Het |
| Chrm5 |
G |
T |
2: 112,310,182 (GRCm39) |
D311E |
probably benign |
Het |
| Ctns |
A |
G |
11: 73,079,298 (GRCm39) |
V140A |
possibly damaging |
Het |
| Ets2 |
A |
G |
16: 95,510,913 (GRCm39) |
D57G |
probably damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,817,595 (GRCm39) |
M1K |
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,204,137 (GRCm39) |
F350I |
probably damaging |
Het |
| Hs3st3a1 |
G |
T |
11: 64,327,049 (GRCm39) |
V53F |
probably benign |
Het |
| Ippk |
T |
C |
13: 49,615,044 (GRCm39) |
S427P |
probably benign |
Het |
| Irgm2 |
T |
C |
11: 58,111,364 (GRCm39) |
F364L |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,046,113 (GRCm39) |
K29E |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,740,834 (GRCm39) |
E187G |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 88,762,480 (GRCm39) |
M176V |
probably benign |
Het |
| Or2z9 |
A |
G |
8: 72,853,973 (GRCm39) |
Y123C |
probably damaging |
Het |
| Palm3 |
G |
A |
8: 84,756,651 (GRCm39) |
S721N |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,873 (GRCm39) |
I1088V |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,226,170 (GRCm39) |
H69R |
probably benign |
Het |
| Pou2af1 |
C |
T |
9: 51,144,160 (GRCm39) |
H54Y |
probably damaging |
Het |
| Prl6a1 |
C |
T |
13: 27,501,993 (GRCm39) |
T120I |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,057,030 (GRCm39) |
F331L |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,618,283 (GRCm39) |
*307R |
probably null |
Het |
| Slc39a6 |
T |
C |
18: 24,733,946 (GRCm39) |
K248E |
probably benign |
Het |
| Slco4a1 |
A |
T |
2: 180,112,925 (GRCm39) |
T386S |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,630,805 (GRCm39) |
I185V |
possibly damaging |
Het |
| Tmem94 |
A |
G |
11: 115,676,671 (GRCm39) |
S59G |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,641,433 (GRCm39) |
I392N |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,598,733 (GRCm39) |
I81T |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,589,027 (GRCm39) |
L893S |
probably benign |
Het |
|
| Other mutations in Actl6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Actl6b
|
APN |
5 |
137,552,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03271:Actl6b
|
APN |
5 |
137,564,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Actl6b
|
UTSW |
5 |
137,553,327 (GRCm39) |
missense |
probably benign |
|
|
R0254:Actl6b
|
UTSW |
5 |
137,552,406 (GRCm39) |
intron |
probably benign |
|
|
R0571:Actl6b
|
UTSW |
5 |
137,565,046 (GRCm39) |
unclassified |
probably benign |
|
|
R1438:Actl6b
|
UTSW |
5 |
137,552,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1530:Actl6b
|
UTSW |
5 |
137,567,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2008:Actl6b
|
UTSW |
5 |
137,567,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2907:Actl6b
|
UTSW |
5 |
137,565,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Actl6b
|
UTSW |
5 |
137,565,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Actl6b
|
UTSW |
5 |
137,565,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Actl6b
|
UTSW |
5 |
137,565,063 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5906:Actl6b
|
UTSW |
5 |
137,565,591 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5972:Actl6b
|
UTSW |
5 |
137,564,818 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6709:Actl6b
|
UTSW |
5 |
137,552,779 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7134:Actl6b
|
UTSW |
5 |
137,562,762 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7249:Actl6b
|
UTSW |
5 |
137,553,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7982:Actl6b
|
UTSW |
5 |
137,561,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8691:Actl6b
|
UTSW |
5 |
137,565,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Actl6b
|
UTSW |
5 |
137,552,918 (GRCm39) |
missense |
probably benign |
|
|
R8831:Actl6b
|
UTSW |
5 |
137,565,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9150:Actl6b
|
UTSW |
5 |
137,553,354 (GRCm39) |
frame shift |
probably null |
|
|
R9471:Actl6b
|
UTSW |
5 |
137,565,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Actl6b
|
UTSW |
5 |
137,562,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Actl6b
|
UTSW |
5 |
137,563,999 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGACAAGCCACTCTATCTCC -3'
(R):5'- GCCCAACTCACTGTTCATCGTAAGG -3'
Sequencing Primer
(F):5'- CAGAGCAGAATCTCAGGGCTG -3'
(R):5'- CACTGTTCATCGTAAGGGGAATC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation