Incidental Mutation 'IGL02980:Acvr1b'
| ID |
392155 |
| 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 # |
IGL02980 (G1)
|
| Quality Score |
225 |
|
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 |
97% (35/36) |
| 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 |
|---|
| Adam28 |
A |
T |
14: 68,857,255 (GRCm39) |
S584T |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,735,990 (GRCm39) |
I224N |
probably benign |
Het |
| Ankdd1b |
C |
T |
13: 96,572,448 (GRCm39) |
R214Q |
probably benign |
Het |
| Armt1 |
A |
G |
10: 4,400,643 (GRCm39) |
|
probably benign |
Het |
| C1rl |
T |
C |
6: 124,485,487 (GRCm39) |
I286T |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,150,399 (GRCm39) |
T2528A |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,447,198 (GRCm39) |
|
probably null |
Het |
| Dag1 |
A |
G |
9: 108,095,237 (GRCm39) |
I85T |
probably benign |
Het |
| Elf2 |
A |
G |
3: 51,172,379 (GRCm39) |
V86A |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,268,587 (GRCm39) |
T485A |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,250,188 (GRCm39) |
|
probably null |
Het |
| Hsd17b4 |
A |
G |
18: 50,279,585 (GRCm39) |
H188R |
probably benign |
Het |
| Ighv9-2 |
C |
T |
12: 114,072,839 (GRCm39) |
V45M |
probably damaging |
Het |
| Kifbp |
A |
C |
10: 62,394,947 (GRCm39) |
L565W |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,686,288 (GRCm39) |
L2784F |
probably benign |
Het |
| Ms4a4c |
G |
T |
19: 11,393,747 (GRCm39) |
A64S |
probably benign |
Het |
| Nudt22 |
A |
G |
19: 6,970,500 (GRCm39) |
L280P |
probably damaging |
Het |
| Oscar |
T |
C |
7: 3,614,062 (GRCm39) |
|
probably benign |
Het |
| Paics |
A |
G |
5: 77,114,102 (GRCm39) |
I321V |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,226,011 (GRCm39) |
H1288L |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,345,390 (GRCm39) |
E322G |
possibly damaging |
Het |
| Poldip2 |
T |
A |
11: 78,412,054 (GRCm39) |
M330K |
probably damaging |
Het |
| Potefam1 |
G |
A |
2: 110,994,818 (GRCm39) |
H232Y |
unknown |
Het |
| Recql5 |
T |
C |
11: 115,784,770 (GRCm39) |
|
probably null |
Het |
| Rnf145 |
A |
G |
11: 44,452,484 (GRCm39) |
M488V |
probably benign |
Het |
| Rrp1b |
T |
A |
17: 32,269,013 (GRCm39) |
D170E |
possibly damaging |
Het |
| Slamf7 |
T |
C |
1: 171,468,566 (GRCm39) |
S109G |
possibly damaging |
Het |
| Slf1 |
A |
G |
13: 77,192,123 (GRCm39) |
S904P |
possibly damaging |
Het |
| St7 |
C |
A |
6: 17,749,545 (GRCm39) |
|
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,555,390 (GRCm39) |
S102P |
probably damaging |
Het |
| Supt6 |
C |
T |
11: 78,116,548 (GRCm39) |
A659T |
probably damaging |
Het |
| Tdrp |
A |
C |
8: 14,003,918 (GRCm39) |
S140A |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,130,451 (GRCm39) |
N527D |
probably benign |
Het |
| Tsnaxip1 |
G |
T |
8: 106,568,842 (GRCm39) |
V444L |
probably damaging |
Het |
| U2af2 |
A |
G |
7: 5,071,042 (GRCm39) |
I116V |
probably benign |
Het |
| Zfp931 |
C |
A |
2: 177,711,409 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCCCAGAATCCTCTCAGAG -3'
(R):5'- ACTGCTGTCAAGTGTCCCAG -3'
Sequencing Primer
(F):5'- ATGCACACATCTTCCTTGAACATG -3'
(R):5'- CTGTCAAGTGTCCCAGTATGG -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation