Incidental Mutation 'IGL02984:Acvr1b'
| ID |
453284 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02984 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| 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 |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (43/43) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,662 (GRCm39) |
I473N |
probably damaging |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A530064D06Rik |
T |
C |
17: 48,470,448 (GRCm39) |
I178V |
probably benign |
Het |
| Aldh1l2 |
G |
A |
10: 83,363,199 (GRCm39) |
P55S |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,098 (GRCm39) |
T85A |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csrnp3 |
A |
G |
2: 65,852,553 (GRCm39) |
D315G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,317,643 (GRCm39) |
Y760H |
probably damaging |
Het |
| Eef1akmt2 |
A |
G |
7: 132,438,935 (GRCm39) |
*52R |
probably null |
Het |
| Epc2 |
A |
G |
2: 49,418,866 (GRCm39) |
K225E |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Foxi2 |
C |
T |
7: 135,012,127 (GRCm39) |
T5M |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,273,221 (GRCm39) |
T670S |
probably damaging |
Het |
| Gm14137 |
G |
T |
2: 119,005,961 (GRCm39) |
E173D |
probably damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
G |
A |
10: 39,823,184 (GRCm39) |
|
probably benign |
Het |
| Mlst8 |
A |
G |
17: 24,695,127 (GRCm39) |
F252S |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mogs |
A |
G |
6: 83,094,296 (GRCm39) |
K371R |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,691,727 (GRCm39) |
|
probably benign |
Het |
| Otog |
T |
A |
7: 45,954,932 (GRCm39) |
C2702S |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,107,020 (GRCm39) |
E905G |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,087 (GRCm39) |
V173A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,016,665 (GRCm39) |
E421G |
probably benign |
Het |
| Setd6 |
G |
A |
8: 96,442,903 (GRCm39) |
|
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,871,403 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
T |
A |
1: 125,490,250 (GRCm39) |
Y71N |
probably benign |
Het |
| Snx1 |
A |
G |
9: 65,996,390 (GRCm39) |
|
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,472,089 (GRCm39) |
V792A |
probably benign |
Het |
| Sufu |
C |
A |
19: 46,462,038 (GRCm39) |
D350E |
probably benign |
Het |
| Trav18 |
C |
A |
14: 54,069,026 (GRCm39) |
Q23K |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Usp17le |
T |
A |
7: 104,418,311 (GRCm39) |
H277L |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,707,173 (GRCm39) |
S20P |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACACATCTTCCTTGAACATG -3'
(R):5'- CAGGGCCACACTTCTATGGAAC -3'
Sequencing Primer
(F):5'- AACATGCCCGGTTTGTGTC -3'
(R):5'- ACACTTCTATGGAACCAGGGCTTG -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation