Incidental Mutation 'IGL00417:Actl6b'
| ID |
5518 |
| 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 # |
IGL00417
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137551779-137567844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 137552899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 76
(R76L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031725]
[ENSMUST00000125489]
[ENSMUST00000136088]
[ENSMUST00000136565]
[ENSMUST00000139395]
[ENSMUST00000149292]
[ENSMUST00000198601]
|
| AlphaFold |
Q99MR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031725
AA Change: R76L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031725
Gene: ENSMUSG00000029712
AA Change: R76L
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
11 |
379 |
4.16e-116 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125489
|
| 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: R76L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119356
Gene: ENSMUSG00000029712
AA Change: R76L
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
11 |
426 |
5.96e-167 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196154
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198601
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,022,982 (GRCm39) |
I39M |
probably benign |
Het |
| Acoxl |
G |
A |
2: 127,820,724 (GRCm39) |
C92Y |
probably damaging |
Het |
| Afg2a |
A |
G |
3: 37,505,951 (GRCm39) |
I677V |
possibly damaging |
Het |
| Ank |
T |
C |
15: 27,544,437 (GRCm39) |
M66T |
possibly damaging |
Het |
| C6 |
C |
T |
15: 4,789,449 (GRCm39) |
A298V |
possibly damaging |
Het |
| Clip4 |
A |
T |
17: 72,156,937 (GRCm39) |
N591Y |
probably damaging |
Het |
| Cntnap5b |
T |
C |
1: 99,978,479 (GRCm39) |
I165T |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 138,990,678 (GRCm39) |
R214H |
probably damaging |
Het |
| Eri2 |
G |
A |
7: 119,386,964 (GRCm39) |
T185I |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,249,456 (GRCm39) |
V476A |
probably damaging |
Het |
| Fer1l4 |
G |
A |
2: 155,861,840 (GRCm39) |
R1826* |
probably null |
Het |
| Fyb1 |
A |
T |
15: 6,610,258 (GRCm39) |
K277I |
probably damaging |
Het |
| Gli3 |
C |
A |
13: 15,818,884 (GRCm39) |
H229N |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,553,029 (GRCm39) |
I2554V |
probably benign |
Het |
| Maml2 |
A |
T |
9: 13,532,900 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,053,692 (GRCm39) |
F930L |
possibly damaging |
Het |
| Mmadhc |
T |
C |
2: 50,179,043 (GRCm39) |
D125G |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,396,157 (GRCm39) |
S139P |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,897,614 (GRCm39) |
L6647P |
unknown |
Het |
| Ppara |
C |
A |
15: 85,685,268 (GRCm39) |
H406N |
probably benign |
Het |
| Psg27 |
T |
A |
7: 18,295,842 (GRCm39) |
H201L |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,617,248 (GRCm39) |
I1188N |
probably damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,783,551 (GRCm39) |
|
probably null |
Het |
| Septin2 |
C |
T |
1: 93,426,864 (GRCm39) |
H158Y |
probably damaging |
Het |
| Snx9 |
C |
A |
17: 5,942,172 (GRCm39) |
Q100K |
probably benign |
Het |
| Thnsl2 |
G |
A |
6: 71,108,884 (GRCm39) |
T309I |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,523,571 (GRCm39) |
R125G |
probably damaging |
Het |
| Tmem62 |
T |
G |
2: 120,837,445 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,578,460 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,680,439 (GRCm39) |
D889V |
probably damaging |
Het |
| Tubgcp6 |
C |
A |
15: 88,988,211 (GRCm39) |
V913L |
probably benign |
Het |
| Uox |
A |
T |
3: 146,333,565 (GRCm39) |
M255L |
probably benign |
Het |
|
| Other mutations in Actl6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation