Incidental Mutation 'IGL01722:Acvr1c'
ID |
105158 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acvr1c
|
Ensembl Gene |
ENSMUSG00000026834 |
Gene Name |
activin A receptor, type IC |
Synonyms |
Alk-7, ALK7 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01722
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
58157465-58247907 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 58173561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028178]
[ENSMUST00000100085]
[ENSMUST00000112607]
[ENSMUST00000112608]
|
AlphaFold |
Q8K348 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028178
|
SMART Domains |
Protein: ENSMUSP00000028178 Gene: ENSMUSG00000026834
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Activin_recp
|
26 |
100 |
3.1e-13 |
PFAM |
transmembrane domain
|
114 |
136 |
N/A |
INTRINSIC |
GS
|
165 |
195 |
1.07e-13 |
SMART |
Blast:TyrKc
|
201 |
472 |
3e-28 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100085
|
SMART Domains |
Protein: ENSMUSP00000097663 Gene: ENSMUSG00000026834
Domain | Start | End | E-Value | Type |
Pfam:Activin_recp
|
1 |
50 |
1.1e-7 |
PFAM |
Pfam:TGF_beta_GS
|
51 |
63 |
2.6e-7 |
PFAM |
Pfam:Pkinase
|
65 |
352 |
5.6e-51 |
PFAM |
Pfam:Pkinase_Tyr
|
65 |
352 |
4e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112607
|
SMART Domains |
Protein: ENSMUSP00000108226 Gene: ENSMUSG00000026834
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Activin_recp
|
26 |
100 |
3.5e-15 |
PFAM |
Pfam:Pkinase
|
51 |
325 |
9.5e-37 |
PFAM |
Pfam:Pkinase_Tyr
|
92 |
325 |
4.8e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112608
|
SMART Domains |
Protein: ENSMUSP00000108227 Gene: ENSMUSG00000026834
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Activin_recp
|
26 |
100 |
4.9e-15 |
PFAM |
Pfam:TGF_beta_GS
|
101 |
113 |
1.2e-8 |
PFAM |
Pfam:Pkinase
|
115 |
402 |
2.3e-51 |
PFAM |
Pfam:Pkinase_Tyr
|
115 |
402 |
1.6e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131189
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and overtly normal with no apparent left-right patterning abnormalities or organogenesis defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alb |
G |
A |
5: 90,618,698 (GRCm39) |
|
probably null |
Het |
Ankrd9 |
A |
G |
12: 110,943,797 (GRCm39) |
V46A |
probably damaging |
Het |
Apol11a |
A |
T |
15: 77,401,307 (GRCm39) |
M265L |
probably benign |
Het |
Ccdc158 |
T |
C |
5: 92,810,598 (GRCm39) |
N97D |
possibly damaging |
Het |
Cobl |
T |
G |
11: 12,203,987 (GRCm39) |
H823P |
probably benign |
Het |
Dnaja2 |
A |
T |
8: 86,279,908 (GRCm39) |
H90Q |
probably benign |
Het |
Dpagt1 |
T |
C |
9: 44,238,899 (GRCm39) |
F73S |
possibly damaging |
Het |
Dph3 |
C |
T |
14: 31,807,417 (GRCm39) |
E20K |
possibly damaging |
Het |
Fbxl13 |
G |
T |
5: 21,695,412 (GRCm39) |
T660K |
possibly damaging |
Het |
Gask1a |
G |
A |
9: 121,794,149 (GRCm39) |
S101N |
possibly damaging |
Het |
Glt6d1 |
T |
C |
2: 25,684,431 (GRCm39) |
T192A |
probably benign |
Het |
Mroh7 |
C |
T |
4: 106,560,358 (GRCm39) |
V649I |
probably benign |
Het |
Mta3 |
T |
C |
17: 84,063,072 (GRCm39) |
Y4H |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,292,956 (GRCm39) |
L369P |
probably damaging |
Het |
Or2y1 |
G |
T |
11: 49,385,793 (GRCm39) |
L144F |
probably damaging |
Het |
Or4c52 |
T |
C |
2: 89,845,351 (GRCm39) |
C26R |
probably benign |
Het |
Paxx |
T |
C |
2: 25,350,277 (GRCm39) |
D110G |
probably damaging |
Het |
Pcyox1 |
T |
G |
6: 86,365,735 (GRCm39) |
D493A |
probably damaging |
Het |
Plk2 |
A |
G |
13: 110,535,976 (GRCm39) |
E560G |
probably benign |
Het |
Rnf6 |
A |
G |
5: 146,147,036 (GRCm39) |
F661L |
probably benign |
Het |
Sema4a |
T |
C |
3: 88,345,491 (GRCm39) |
K531E |
probably benign |
Het |
Svs5 |
T |
C |
2: 164,079,446 (GRCm39) |
K154E |
possibly damaging |
Het |
Tbx4 |
A |
T |
11: 85,802,769 (GRCm39) |
Q242L |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,886,488 (GRCm39) |
I570F |
probably damaging |
Het |
Thrap3 |
A |
T |
4: 126,059,322 (GRCm39) |
M908K |
possibly damaging |
Het |
Trmo |
A |
G |
4: 46,386,092 (GRCm39) |
|
probably null |
Het |
Usp8 |
T |
A |
2: 126,600,072 (GRCm39) |
L997Q |
probably damaging |
Het |
Vmn1r202 |
T |
C |
13: 22,685,890 (GRCm39) |
R176G |
probably benign |
Het |
Vps52 |
T |
A |
17: 34,180,589 (GRCm39) |
Y308* |
probably null |
Het |
|
Other mutations in Acvr1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00480:Acvr1c
|
APN |
2 |
58,205,867 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00543:Acvr1c
|
APN |
2 |
58,205,835 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01287:Acvr1c
|
APN |
2 |
58,170,254 (GRCm39) |
nonsense |
probably null |
|
IGL01313:Acvr1c
|
APN |
2 |
58,205,986 (GRCm39) |
missense |
probably benign |
0.10 |
R0035:Acvr1c
|
UTSW |
2 |
58,205,791 (GRCm39) |
splice site |
probably benign |
|
R0035:Acvr1c
|
UTSW |
2 |
58,205,791 (GRCm39) |
splice site |
probably benign |
|
R0329:Acvr1c
|
UTSW |
2 |
58,174,850 (GRCm39) |
missense |
probably damaging |
0.96 |
R0330:Acvr1c
|
UTSW |
2 |
58,174,850 (GRCm39) |
missense |
probably damaging |
0.96 |
R1311:Acvr1c
|
UTSW |
2 |
58,170,261 (GRCm39) |
missense |
probably benign |
0.04 |
R1465:Acvr1c
|
UTSW |
2 |
58,174,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Acvr1c
|
UTSW |
2 |
58,174,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Acvr1c
|
UTSW |
2 |
58,177,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R1813:Acvr1c
|
UTSW |
2 |
58,170,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1896:Acvr1c
|
UTSW |
2 |
58,170,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1935:Acvr1c
|
UTSW |
2 |
58,173,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R1939:Acvr1c
|
UTSW |
2 |
58,173,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R1940:Acvr1c
|
UTSW |
2 |
58,173,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R2001:Acvr1c
|
UTSW |
2 |
58,205,987 (GRCm39) |
missense |
probably benign |
0.04 |
R2002:Acvr1c
|
UTSW |
2 |
58,205,987 (GRCm39) |
missense |
probably benign |
0.04 |
R2305:Acvr1c
|
UTSW |
2 |
58,171,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R4786:Acvr1c
|
UTSW |
2 |
58,170,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R4947:Acvr1c
|
UTSW |
2 |
58,205,987 (GRCm39) |
missense |
probably benign |
0.04 |
R5121:Acvr1c
|
UTSW |
2 |
58,171,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R5133:Acvr1c
|
UTSW |
2 |
58,173,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R5381:Acvr1c
|
UTSW |
2 |
58,177,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R5383:Acvr1c
|
UTSW |
2 |
58,177,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R5647:Acvr1c
|
UTSW |
2 |
58,185,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R5988:Acvr1c
|
UTSW |
2 |
58,205,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R6860:Acvr1c
|
UTSW |
2 |
58,177,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R7137:Acvr1c
|
UTSW |
2 |
58,173,399 (GRCm39) |
critical splice donor site |
probably null |
|
R7200:Acvr1c
|
UTSW |
2 |
58,205,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R7278:Acvr1c
|
UTSW |
2 |
58,174,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R8029:Acvr1c
|
UTSW |
2 |
58,186,129 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8504:Acvr1c
|
UTSW |
2 |
58,173,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R9718:Acvr1c
|
UTSW |
2 |
58,206,007 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2014-01-21 |