Incidental Mutation 'R3826:Actl6b'
| ID |
275401 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3826 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137551779-137567844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137565535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 377
(L377P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031725]
[ENSMUST00000031729]
[ENSMUST00000136088]
[ENSMUST00000136565]
[ENSMUST00000139395]
[ENSMUST00000196471]
[ENSMUST00000198601]
[ENSMUST00000198783]
[ENSMUST00000199054]
[ENSMUST00000198866]
|
| 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: L377P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119356
Gene: ENSMUSG00000029712
AA Change: L377P
| 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: ENSMUST00000199957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200190
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.9593 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
T |
A |
3: 59,843,896 (GRCm39) |
S197T |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,412,388 (GRCm39) |
Q236K |
possibly damaging |
Het |
| Atn1 |
G |
A |
6: 124,723,182 (GRCm39) |
|
probably benign |
Het |
| Ccr3 |
A |
G |
9: 123,829,714 (GRCm39) |
T350A |
possibly damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,367,675 (GRCm39) |
V1015A |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col1a2 |
A |
G |
6: 4,516,960 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Dhx37 |
T |
C |
5: 125,508,677 (GRCm39) |
K86R |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,972,129 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,437,163 (GRCm39) |
E172G |
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gas2 |
T |
C |
7: 51,586,367 (GRCm39) |
|
probably null |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Grpel1 |
T |
A |
5: 36,626,827 (GRCm39) |
N36K |
probably benign |
Het |
| Hgfac |
C |
A |
5: 35,205,506 (GRCm39) |
D595E |
probably damaging |
Het |
| Kcnj10 |
A |
T |
1: 172,197,616 (GRCm39) |
S377C |
probably damaging |
Het |
| Kcnq2 |
C |
T |
2: 180,746,693 (GRCm39) |
V369I |
possibly damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,805,880 (GRCm39) |
|
probably null |
Het |
| Lpcat1 |
T |
C |
13: 73,637,212 (GRCm39) |
I114T |
possibly damaging |
Het |
| Mast4 |
G |
T |
13: 102,875,319 (GRCm39) |
H1350N |
probably damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Muc21 |
A |
G |
17: 35,932,504 (GRCm39) |
|
probably benign |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,756 (GRCm39) |
|
probably benign |
Het |
| Or1o4 |
T |
A |
17: 37,591,140 (GRCm39) |
Y57F |
probably damaging |
Het |
| Or5t17 |
T |
A |
2: 86,832,388 (GRCm39) |
I25K |
probably damaging |
Het |
| Or9g4b |
C |
T |
2: 85,616,559 (GRCm39) |
R235* |
probably null |
Het |
| Panx2 |
A |
G |
15: 88,952,664 (GRCm39) |
D377G |
probably damaging |
Het |
| Pcdhb10 |
C |
A |
18: 37,545,470 (GRCm39) |
T182N |
probably damaging |
Het |
| Pdha2 |
G |
T |
3: 140,916,889 (GRCm39) |
F206L |
possibly damaging |
Het |
| Pgd |
T |
C |
4: 149,250,461 (GRCm39) |
|
probably benign |
Het |
| Pgs1 |
C |
T |
11: 117,910,584 (GRCm39) |
|
probably null |
Het |
| Rere |
T |
C |
4: 150,554,785 (GRCm39) |
V161A |
probably benign |
Het |
| Rgs12 |
G |
A |
5: 35,123,359 (GRCm39) |
V381M |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
C |
T |
14: 75,269,665 (GRCm39) |
L108F |
possibly damaging |
Het |
| Sap18b |
T |
C |
8: 96,552,185 (GRCm39) |
F65S |
probably damaging |
Het |
| Scap |
A |
G |
9: 110,210,365 (GRCm39) |
M925V |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,975,029 (GRCm39) |
I200T |
probably damaging |
Het |
| Srrm3 |
A |
G |
5: 135,886,068 (GRCm39) |
D336G |
probably damaging |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
C |
G |
17: 3,557,976 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Trio |
T |
A |
15: 27,833,156 (GRCm39) |
K75N |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,050,453 (GRCm39) |
I57V |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,538,012 (GRCm39) |
Q368K |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,466,269 (GRCm39) |
K2142N |
probably damaging |
Het |
| Zfp37 |
T |
C |
4: 62,110,800 (GRCm39) |
N88S |
probably benign |
Het |
| Zswim8 |
C |
T |
14: 20,761,157 (GRCm39) |
R142* |
probably null |
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 |
|
R2907:Actl6b
|
UTSW |
5 |
137,565,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGATTCCAATCCTAGCTTAGCTCTC -3'
(R):5'- CATTCACTGGCTGCACTTGC -3'
Sequencing Primer
(F):5'- TAGCTTAGCTCTCTGAACCCCAAATG -3'
(R):5'- CAAGGCTAGGACCTTAGTTCAGTC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation