Incidental Mutation 'IGL02983:Acvr1b'
ID |
406630 |
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 # |
IGL02983
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,240,663 (GRCm39) |
N842S |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,029,950 (GRCm39) |
I565V |
probably benign |
Het |
Camta2 |
C |
T |
11: 70,562,848 (GRCm39) |
R959Q |
probably damaging |
Het |
Cbln2 |
A |
G |
18: 86,731,504 (GRCm39) |
E104G |
probably benign |
Het |
Cdc42ep4 |
T |
C |
11: 113,619,995 (GRCm39) |
K132R |
probably benign |
Het |
Clcnka |
T |
A |
4: 141,117,442 (GRCm39) |
I452F |
probably damaging |
Het |
Clec4a3 |
T |
A |
6: 122,944,526 (GRCm39) |
|
probably null |
Het |
Crat |
A |
C |
2: 30,294,538 (GRCm39) |
|
probably null |
Het |
Cspp1 |
A |
G |
1: 10,197,750 (GRCm39) |
K227R |
probably benign |
Het |
Ddx1 |
A |
T |
12: 13,273,863 (GRCm39) |
I588N |
probably damaging |
Het |
Dip2b |
G |
T |
15: 100,029,903 (GRCm39) |
R98L |
possibly damaging |
Het |
Dock5 |
G |
A |
14: 68,002,119 (GRCm39) |
P1617L |
probably damaging |
Het |
Fa2h |
C |
T |
8: 112,073,154 (GRCm39) |
|
probably null |
Het |
Fezf1 |
T |
A |
6: 23,247,871 (GRCm39) |
N68I |
probably damaging |
Het |
Gabrb2 |
A |
T |
11: 42,312,227 (GRCm39) |
L17F |
probably benign |
Het |
Gm17078 |
T |
C |
14: 51,848,647 (GRCm39) |
K30R |
probably benign |
Het |
Gramd4 |
G |
A |
15: 86,011,219 (GRCm39) |
V249M |
probably damaging |
Het |
Kcnd2 |
A |
C |
6: 21,216,554 (GRCm39) |
D86A |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,386,068 (GRCm39) |
E3486G |
probably damaging |
Het |
Ltb |
A |
G |
17: 35,413,646 (GRCm39) |
D50G |
probably benign |
Het |
Med18 |
A |
T |
4: 132,186,997 (GRCm39) |
Y167* |
probably null |
Het |
Nat14 |
G |
A |
7: 4,927,127 (GRCm39) |
A100T |
probably damaging |
Het |
Nscme3l |
A |
G |
19: 5,553,209 (GRCm39) |
F191L |
possibly damaging |
Het |
Nxph2 |
T |
C |
2: 23,290,374 (GRCm39) |
V242A |
probably damaging |
Het |
Or1j10 |
T |
A |
2: 36,267,649 (GRCm39) |
I287N |
probably damaging |
Het |
Or1x2 |
T |
C |
11: 50,918,207 (GRCm39) |
V126A |
probably damaging |
Het |
Or2a55-ps1 |
T |
C |
6: 43,071,582 (GRCm39) |
|
noncoding transcript |
Het |
Or6c219 |
T |
A |
10: 129,781,058 (GRCm39) |
N291I |
probably damaging |
Het |
Pramel15 |
T |
C |
4: 144,099,697 (GRCm39) |
E356G |
probably benign |
Het |
Rad21l |
A |
G |
2: 151,497,040 (GRCm39) |
L358S |
probably damaging |
Het |
Rasgef1c |
A |
G |
11: 49,847,876 (GRCm39) |
T4A |
possibly damaging |
Het |
Spata31d1a |
A |
G |
13: 59,851,508 (GRCm39) |
S207P |
possibly damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Szt2 |
T |
C |
4: 118,222,976 (GRCm39) |
|
probably benign |
Het |
Taf6 |
T |
C |
5: 138,177,142 (GRCm39) |
T642A |
probably benign |
Het |
Tmem30a |
A |
T |
9: 79,678,725 (GRCm39) |
M277K |
possibly damaging |
Het |
Vmn1r86 |
T |
C |
7: 12,836,741 (GRCm39) |
D45G |
probably damaging |
Het |
Xkr5 |
T |
C |
8: 18,983,848 (GRCm39) |
I565V |
probably benign |
Het |
Zfp526 |
C |
T |
7: 24,923,840 (GRCm39) |
A33V |
probably benign |
Het |
|
Other mutations in Acvr1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03051: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 |