Incidental Mutation 'R2907:Actl6b'
ID |
261685 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actl6b
|
Ensembl Gene |
ENSMUSG00000029712 |
Gene Name |
actin-like 6B |
Synonyms |
Baf53b, Actl6, ArpNa |
MMRRC Submission |
040494-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.842)
|
Stock # |
R2907 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
137551779-137567844 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137565559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 385
(E385G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031725]
[ENSMUST00000031729]
[ENSMUST00000136088]
[ENSMUST00000136565]
[ENSMUST00000139395]
[ENSMUST00000196471]
[ENSMUST00000198866]
[ENSMUST00000198783]
[ENSMUST00000199054]
[ENSMUST00000198601]
|
AlphaFold |
Q99MR0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031725
|
SMART Domains |
Protein: ENSMUSP00000031725 Gene: ENSMUSG00000029712
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 damaging
Transcript: ENSMUST00000139395
AA Change: E385G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119356 Gene: ENSMUSG00000029712 AA Change: E385G
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 |
noncoding transcript
Transcript: ENSMUST00000200190
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199957
|
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: ENSMUST00000198783
|
SMART Domains |
Protein: ENSMUSP00000142502 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198601
|
Meta Mutation Damage Score |
0.9030 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
97% (37/38) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Arap3 |
G |
A |
18: 38,123,580 (GRCm39) |
P452L |
possibly damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
Asns |
A |
G |
6: 7,675,506 (GRCm39) |
S499P |
probably benign |
Het |
Aspn |
G |
T |
13: 49,705,374 (GRCm39) |
V79F |
probably damaging |
Het |
Astn2 |
A |
G |
4: 65,563,093 (GRCm39) |
I844T |
possibly damaging |
Het |
Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,786,869 (GRCm39) |
R641W |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 47,874,449 (GRCm39) |
I612F |
probably damaging |
Het |
Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
H2-T3 |
G |
A |
17: 36,498,347 (GRCm39) |
R233C |
possibly damaging |
Het |
Igfbp4 |
A |
G |
11: 98,932,377 (GRCm39) |
|
probably benign |
Het |
Igkv16-104 |
T |
C |
6: 68,402,911 (GRCm39) |
I68T |
probably damaging |
Het |
Kansl1 |
T |
A |
11: 104,315,286 (GRCm39) |
S251C |
possibly damaging |
Het |
Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
Mcpt1 |
T |
C |
14: 56,257,580 (GRCm39) |
V242A |
probably damaging |
Het |
Nek10 |
C |
A |
14: 14,980,613 (GRCm38) |
Q990K |
possibly damaging |
Het |
Nlrp4d |
A |
T |
7: 10,112,354 (GRCm39) |
V605E |
probably benign |
Het |
Or10w1 |
C |
T |
19: 13,632,611 (GRCm39) |
P268S |
possibly damaging |
Het |
Or5an1b |
T |
C |
19: 12,300,032 (GRCm39) |
D53G |
probably damaging |
Het |
Or5d46 |
T |
C |
2: 88,170,827 (GRCm39) |
I306T |
probably benign |
Het |
Osbpl1a |
A |
G |
18: 13,004,129 (GRCm39) |
|
probably benign |
Het |
Otud4 |
T |
A |
8: 80,399,697 (GRCm39) |
S803T |
probably benign |
Het |
Pax9 |
C |
T |
12: 56,756,529 (GRCm39) |
T289I |
probably benign |
Het |
Pcdha5 |
A |
C |
18: 37,093,868 (GRCm39) |
I126L |
possibly damaging |
Het |
Psmd4 |
G |
T |
3: 94,941,273 (GRCm39) |
A55E |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
Sdr42e1 |
G |
A |
8: 118,389,511 (GRCm39) |
L377F |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,234,512 (GRCm39) |
|
probably benign |
Het |
Uba3 |
T |
C |
6: 97,180,514 (GRCm39) |
E21G |
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Zfp113 |
T |
C |
5: 138,143,219 (GRCm39) |
N344D |
probably benign |
Het |
Zfp738 |
T |
C |
13: 67,818,231 (GRCm39) |
I587V |
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 |
R1621:Actl6b
|
UTSW |
5 |
137,564,041 (GRCm39) |
missense |
probably benign |
0.18 |
R2008:Actl6b
|
UTSW |
5 |
137,567,592 (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'- TGAACCCCAAATGCCTCCTG -3'
(R):5'- GCATTCACTGGCTGCACTTG -3'
Sequencing Primer
(F):5'- GATTCCCCTAAACAGAAATGCTCGTG -3'
(R):5'- CAAGGCTAGGACCTTAGTTCAGTC -3'
|
Posted On |
2015-01-23 |