Incidental Mutation 'IGL03271:Actl6b'
ID |
415280 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Actl6b
|
Ensembl Gene |
ENSMUSG00000029712 |
Gene Name |
actin-like 6B |
Synonyms |
Baf53b, Actl6, ArpNa |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.842)
|
Stock # |
IGL03271
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
137551779-137567844 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 137564246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 256
(I256N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031725]
[ENSMUST00000031729]
[ENSMUST00000136088]
[ENSMUST00000136565]
[ENSMUST00000139395]
[ENSMUST00000196471]
[ENSMUST00000198601]
[ENSMUST00000198866]
[ENSMUST00000199054]
[ENSMUST00000198783]
|
AlphaFold |
Q99MR0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031725
AA Change: I256N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031725 Gene: ENSMUSG00000029712 AA Change: I256N
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: I256N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119356 Gene: ENSMUSG00000029712 AA Change: I256N
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 |
|
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 |
|
Coding Region Coverage |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
G |
T |
13: 111,392,408 (GRCm39) |
V248L |
probably benign |
Het |
Agl |
G |
T |
3: 116,572,776 (GRCm39) |
T825K |
probably benign |
Het |
Arid5b |
A |
T |
10: 67,933,287 (GRCm39) |
S629T |
possibly damaging |
Het |
Atp13a2 |
T |
C |
4: 140,727,708 (GRCm39) |
I495T |
possibly damaging |
Het |
Bcl6 |
G |
T |
16: 23,788,756 (GRCm39) |
H537Q |
probably benign |
Het |
Cdh12 |
A |
G |
15: 21,586,539 (GRCm39) |
E786G |
probably benign |
Het |
Cep290 |
T |
A |
10: 100,373,663 (GRCm39) |
N1307K |
probably benign |
Het |
Cops3 |
A |
T |
11: 59,723,889 (GRCm39) |
N89K |
probably damaging |
Het |
Cyp4a29 |
T |
C |
4: 115,111,705 (GRCm39) |
V494A |
probably damaging |
Het |
Dlg1 |
A |
G |
16: 31,676,710 (GRCm39) |
H675R |
possibly damaging |
Het |
Dnajc6 |
T |
A |
4: 101,365,274 (GRCm39) |
|
probably benign |
Het |
Dock10 |
C |
A |
1: 80,483,126 (GRCm39) |
K2107N |
probably damaging |
Het |
Dop1a |
T |
A |
9: 86,386,275 (GRCm39) |
L382* |
probably null |
Het |
Faxc |
A |
C |
4: 21,948,757 (GRCm39) |
K156N |
possibly damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gapvd1 |
C |
A |
2: 34,617,219 (GRCm39) |
|
probably benign |
Het |
Gfm1 |
T |
C |
3: 67,382,076 (GRCm39) |
Y717H |
probably damaging |
Het |
Gm4884 |
A |
T |
7: 40,692,699 (GRCm39) |
T223S |
probably benign |
Het |
Gstm3 |
C |
A |
3: 107,873,513 (GRCm39) |
V153F |
possibly damaging |
Het |
H2-M10.5 |
G |
T |
17: 37,084,243 (GRCm39) |
L68F |
possibly damaging |
Het |
Hmcn1 |
G |
T |
1: 150,474,175 (GRCm39) |
H4756N |
possibly damaging |
Het |
Ift140 |
C |
A |
17: 25,306,880 (GRCm39) |
R872S |
probably damaging |
Het |
Lars2 |
T |
A |
9: 123,288,549 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
A |
G |
7: 27,029,240 (GRCm39) |
V149A |
unknown |
Het |
Mpp2 |
A |
T |
11: 101,954,249 (GRCm39) |
|
probably benign |
Het |
Mybbp1a |
A |
G |
11: 72,334,744 (GRCm39) |
|
probably benign |
Het |
Nxpe4 |
C |
A |
9: 48,304,345 (GRCm39) |
P144Q |
probably damaging |
Het |
Or13p3 |
T |
A |
4: 118,566,982 (GRCm39) |
I126N |
probably damaging |
Het |
Or5p6 |
C |
T |
7: 107,630,714 (GRCm39) |
V279M |
probably damaging |
Het |
Parp4 |
C |
A |
14: 56,823,082 (GRCm39) |
N67K |
probably benign |
Het |
Pdk1 |
G |
T |
2: 71,710,374 (GRCm39) |
|
probably benign |
Het |
Phip |
A |
T |
9: 82,766,877 (GRCm39) |
|
probably benign |
Het |
Pls1 |
A |
G |
9: 95,658,883 (GRCm39) |
S202P |
probably benign |
Het |
Pmpcb |
A |
G |
5: 21,943,874 (GRCm39) |
Y36C |
probably benign |
Het |
Pole |
T |
C |
5: 110,466,185 (GRCm39) |
S1296P |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,610,014 (GRCm39) |
S4P |
probably damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Sec61a2 |
A |
T |
2: 5,887,745 (GRCm39) |
L79* |
probably null |
Het |
Slc2a5 |
T |
C |
4: 150,220,040 (GRCm39) |
L152P |
probably damaging |
Het |
Smu1 |
C |
T |
4: 40,738,408 (GRCm39) |
G442D |
probably benign |
Het |
Spag16 |
T |
A |
1: 69,892,511 (GRCm39) |
N97K |
probably benign |
Het |
Spag6l |
C |
T |
16: 16,598,592 (GRCm39) |
D300N |
probably damaging |
Het |
Sult3a1 |
A |
G |
10: 33,739,997 (GRCm39) |
T19A |
probably benign |
Het |
Ttll6 |
A |
G |
11: 96,047,513 (GRCm39) |
H704R |
probably benign |
Het |
Uba1 |
T |
A |
X: 20,541,956 (GRCm39) |
D569E |
probably damaging |
Het |
Umodl1 |
T |
A |
17: 31,205,473 (GRCm39) |
Y689* |
probably null |
Het |
Unc80 |
A |
G |
1: 66,734,762 (GRCm39) |
|
probably benign |
Het |
Utp15 |
C |
A |
13: 98,390,202 (GRCm39) |
V282F |
probably damaging |
Het |
Vmn1r184 |
A |
G |
7: 25,967,034 (GRCm39) |
Y260C |
probably benign |
Het |
Vmn1r69 |
A |
G |
7: 10,314,596 (GRCm39) |
V45A |
probably benign |
Het |
Vmn2r4 |
C |
A |
3: 64,305,850 (GRCm39) |
R524L |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |