Incidental Mutation 'IGL03166:Acvr1b'
| ID |
411629 |
| 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 # |
IGL03166
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankfn1 |
G |
T |
11: 89,429,264 (GRCm39) |
A40D |
probably benign |
Het |
| Arhgap20 |
T |
A |
9: 51,761,077 (GRCm39) |
I940K |
possibly damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,023,552 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,172,308 (GRCm39) |
T2103A |
probably benign |
Het |
| Cep350 |
A |
G |
1: 155,739,346 (GRCm39) |
S2166P |
possibly damaging |
Het |
| Dlg2 |
T |
C |
7: 91,549,938 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,827,616 (GRCm39) |
C160S |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,657,452 (GRCm39) |
L908H |
probably benign |
Het |
| Gprc5b |
C |
A |
7: 118,583,222 (GRCm39) |
A216S |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,208,047 (GRCm39) |
V80A |
probably benign |
Het |
| Lilra6 |
T |
C |
7: 3,915,626 (GRCm39) |
I370V |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,080,047 (GRCm39) |
C11* |
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,001,050 (GRCm39) |
H2058L |
probably damaging |
Het |
| Lrp3 |
G |
T |
7: 34,901,905 (GRCm39) |
L659I |
probably benign |
Het |
| Lrrc8a |
T |
G |
2: 30,145,377 (GRCm39) |
S64A |
probably benign |
Het |
| Lsr |
C |
T |
7: 30,661,522 (GRCm39) |
|
probably null |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Man2c1 |
T |
A |
9: 57,046,382 (GRCm39) |
V479E |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,254,586 (GRCm39) |
D462E |
probably benign |
Het |
| Mx2 |
T |
C |
16: 97,347,990 (GRCm39) |
I205T |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,052,517 (GRCm39) |
|
probably benign |
Het |
| Optc |
C |
T |
1: 133,831,530 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
T |
C |
7: 102,391,254 (GRCm39) |
N319D |
probably benign |
Het |
| Orm1 |
C |
A |
4: 63,262,831 (GRCm39) |
|
probably benign |
Het |
| Pdzd8 |
T |
C |
19: 59,288,940 (GRCm39) |
E820G |
probably damaging |
Het |
| Pkp1 |
A |
T |
1: 135,805,862 (GRCm39) |
M612K |
probably damaging |
Het |
| Pno1 |
T |
A |
11: 17,154,513 (GRCm39) |
|
probably null |
Het |
| Rbm34 |
T |
C |
8: 127,697,606 (GRCm39) |
Q35R |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,471,457 (GRCm39) |
Y4564* |
probably null |
Het |
| Slc34a3 |
T |
C |
2: 25,122,186 (GRCm39) |
I140V |
probably damaging |
Het |
| Slc43a1 |
T |
C |
2: 84,687,700 (GRCm39) |
I419T |
possibly damaging |
Het |
| Sltm |
C |
A |
9: 70,450,251 (GRCm39) |
A17E |
possibly damaging |
Het |
| Smpdl3b |
T |
C |
4: 132,468,842 (GRCm39) |
D125G |
probably benign |
Het |
| Snorc |
A |
C |
1: 87,402,933 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
G |
T |
17: 45,234,106 (GRCm39) |
A48S |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,855,965 (GRCm39) |
F72L |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,345,388 (GRCm39) |
E15G |
probably benign |
Het |
| Tubb4b-ps1 |
A |
T |
5: 7,229,965 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,871,331 (GRCm39) |
T651A |
probably benign |
Het |
| Wdr76 |
G |
T |
2: 121,364,787 (GRCm39) |
V462F |
possibly damaging |
Het |
| Wnk2 |
C |
A |
13: 49,224,520 (GRCm39) |
G1112* |
probably null |
Het |
| Zfp868 |
A |
C |
8: 70,064,965 (GRCm39) |
C123W |
probably damaging |
Het |
| Zyg11b |
T |
A |
4: 108,123,086 (GRCm39) |
M294L |
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 |
|
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 |
|
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 |
Incidental Mutation