Incidental Mutation 'IGL03051:Acvr1b'
ID |
409056 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acvr1b
|
Ensembl Gene |
ENSMUSG00000000532 |
Gene Name |
activin A receptor, type 1B |
Synonyms |
ActRIB, Acvrlk4, SKR2, Alk4, ActR-IB |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03051
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101071953-101111565 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101100959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 374
(R374G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000544
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000544]
|
AlphaFold |
Q61271 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000544
AA Change: R374G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000000544 Gene: ENSMUSG00000000532 AA Change: R374G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:Activin_recp
|
32 |
108 |
4.1e-13 |
PFAM |
transmembrane domain
|
127 |
149 |
N/A |
INTRINSIC |
GS
|
177 |
207 |
1.89e-14 |
SMART |
Blast:STYKc
|
209 |
494 |
2e-26 |
BLAST |
|
Meta Mutation Damage Score |
0.7466 |
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010] PHENOTYPE: Embryos homozygous for targeted mutations that inactivate the gene arrest at the egg cylinder stage, prior to gastrulation, showing epiblast and extraembryonic ectoderm disorganization. [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 |
Aak1 |
G |
T |
6: 86,964,283 (GRCm39) |
|
probably benign |
Het |
Abhd14a |
A |
T |
9: 106,321,128 (GRCm39) |
F76I |
possibly damaging |
Het |
Akap13 |
T |
A |
7: 75,260,233 (GRCm39) |
C149* |
probably null |
Het |
Appbp2 |
A |
T |
11: 85,082,565 (GRCm39) |
D555E |
possibly damaging |
Het |
Arhgap25 |
T |
C |
6: 87,472,896 (GRCm39) |
Q87R |
probably null |
Het |
Baz1b |
T |
A |
5: 135,246,079 (GRCm39) |
N509K |
probably benign |
Het |
Ccn4 |
T |
A |
15: 66,778,399 (GRCm39) |
C73* |
probably null |
Het |
Ces5a |
C |
A |
8: 94,255,226 (GRCm39) |
G156C |
probably damaging |
Het |
Chtf18 |
G |
A |
17: 25,939,938 (GRCm39) |
R723W |
probably damaging |
Het |
Clec4e |
A |
G |
6: 123,266,692 (GRCm39) |
S6P |
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,769,696 (GRCm39) |
I468V |
probably damaging |
Het |
Epb41l4a |
A |
T |
18: 34,007,825 (GRCm39) |
Y233N |
probably damaging |
Het |
Fam210b |
C |
T |
2: 172,194,612 (GRCm39) |
H155Y |
probably benign |
Het |
Frmd4b |
A |
T |
6: 97,272,943 (GRCm39) |
C770* |
probably null |
Het |
Gpa33 |
A |
G |
1: 165,992,790 (GRCm39) |
H301R |
probably benign |
Het |
Gpr39 |
T |
A |
1: 125,605,485 (GRCm39) |
C138S |
probably damaging |
Het |
Gtf2i |
T |
A |
5: 134,271,768 (GRCm39) |
K858* |
probably null |
Het |
Ighv7-1 |
A |
T |
12: 113,860,576 (GRCm39) |
|
probably benign |
Het |
Iglv1 |
T |
C |
16: 18,903,973 (GRCm39) |
T49A |
possibly damaging |
Het |
Kif17 |
A |
C |
4: 138,016,565 (GRCm39) |
D416A |
probably damaging |
Het |
Mib2 |
T |
C |
4: 155,741,747 (GRCm39) |
T431A |
probably damaging |
Het |
Mpz |
G |
A |
1: 170,986,380 (GRCm39) |
R98H |
probably damaging |
Het |
Naa16 |
T |
C |
14: 79,606,522 (GRCm39) |
E337G |
probably benign |
Het |
Odam |
G |
A |
5: 88,040,335 (GRCm39) |
|
probably benign |
Het |
Or1e1f |
T |
A |
11: 73,855,860 (GRCm39) |
L142H |
probably benign |
Het |
Parp2 |
T |
C |
14: 51,056,805 (GRCm39) |
|
probably benign |
Het |
Pcdh7 |
T |
G |
5: 58,286,415 (GRCm39) |
S1164A |
probably damaging |
Het |
Pkp4 |
G |
T |
2: 59,142,106 (GRCm39) |
A470S |
probably benign |
Het |
Plin4 |
A |
T |
17: 56,412,417 (GRCm39) |
M538K |
possibly damaging |
Het |
Prex2 |
T |
C |
1: 11,212,889 (GRCm39) |
V624A |
probably damaging |
Het |
Rps6ka5 |
A |
C |
12: 100,582,250 (GRCm39) |
|
probably null |
Het |
Simc1 |
T |
C |
13: 54,674,036 (GRCm39) |
S795P |
probably benign |
Het |
Slc35b4 |
A |
T |
6: 34,137,406 (GRCm39) |
|
probably null |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Syt14 |
T |
C |
1: 192,615,528 (GRCm39) |
N486S |
probably benign |
Het |
Trim59 |
T |
C |
3: 68,944,206 (GRCm39) |
N378S |
probably benign |
Het |
Wdr17 |
T |
A |
8: 55,104,349 (GRCm39) |
D908V |
probably damaging |
Het |
Wdr74 |
A |
G |
19: 8,716,875 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Acvr1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02983:Acvr1b
|
APN |
15 |
101,100,959 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03010:Acvr1b
|
APN |
15 |
101,100,959 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03011:Acvr1b
|
APN |
15 |
101,100,959 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03013:Acvr1b
|
APN |
15 |
101,100,959 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03127:Acvr1b
|
APN |
15 |
101,100,959 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03166:Acvr1b
|
APN |
15 |
101,100,959 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03265:Acvr1b
|
APN |
15 |
101,100,959 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02980:Acvr1b
|
UTSW |
15 |
101,100,959 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02984:Acvr1b
|
UTSW |
15 |
101,100,959 (GRCm39) |
missense |
probably damaging |
0.98 |
R1367:Acvr1b
|
UTSW |
15 |
101,091,819 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1498:Acvr1b
|
UTSW |
15 |
101,091,891 (GRCm39) |
missense |
probably benign |
|
R1591:Acvr1b
|
UTSW |
15 |
101,091,905 (GRCm39) |
missense |
probably benign |
|
R1757:Acvr1b
|
UTSW |
15 |
101,096,703 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1793:Acvr1b
|
UTSW |
15 |
101,091,906 (GRCm39) |
missense |
probably benign |
0.01 |
R2223:Acvr1b
|
UTSW |
15 |
101,100,924 (GRCm39) |
missense |
probably benign |
0.10 |
R2249:Acvr1b
|
UTSW |
15 |
101,100,975 (GRCm39) |
missense |
probably null |
1.00 |
R4674:Acvr1b
|
UTSW |
15 |
101,100,939 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4676:Acvr1b
|
UTSW |
15 |
101,100,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R5151:Acvr1b
|
UTSW |
15 |
101,108,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R5223:Acvr1b
|
UTSW |
15 |
101,091,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R5397:Acvr1b
|
UTSW |
15 |
101,096,845 (GRCm39) |
missense |
probably damaging |
0.99 |
R5574:Acvr1b
|
UTSW |
15 |
101,099,958 (GRCm39) |
missense |
probably benign |
0.03 |
R5906:Acvr1b
|
UTSW |
15 |
101,091,772 (GRCm39) |
intron |
probably benign |
|
R6025:Acvr1b
|
UTSW |
15 |
101,092,856 (GRCm39) |
missense |
probably benign |
0.43 |
R6467:Acvr1b
|
UTSW |
15 |
101,092,722 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7158:Acvr1b
|
UTSW |
15 |
101,091,939 (GRCm39) |
missense |
probably benign |
|
R8480:Acvr1b
|
UTSW |
15 |
101,108,720 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9502:Acvr1b
|
UTSW |
15 |
101,092,710 (GRCm39) |
missense |
probably benign |
|
X0067:Acvr1b
|
UTSW |
15 |
101,091,903 (GRCm39) |
missense |
probably benign |
0.10 |
|
Posted On |
2016-08-02 |