Incidental Mutation 'R7137:Acvr1c'
ID |
553112 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acvr1c
|
Ensembl Gene |
ENSMUSG00000026834 |
Gene Name |
activin A receptor, type IC |
Synonyms |
Alk-7, ALK7 |
MMRRC Submission |
045248-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7137 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
58157465-58247907 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 58173399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028178]
[ENSMUST00000100085]
[ENSMUST00000112607]
[ENSMUST00000112608]
|
AlphaFold |
Q8K348 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 |
|
Meta Mutation Damage Score |
0.9483 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,654,944 (GRCm39) |
S1423P |
possibly damaging |
Het |
Adgrf5 |
A |
G |
17: 43,761,788 (GRCm39) |
K1161R |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,967,083 (GRCm39) |
Y677C |
probably damaging |
Het |
Arhgap32 |
T |
G |
9: 32,063,232 (GRCm39) |
D80E |
probably benign |
Het |
Aspg |
T |
C |
12: 112,078,632 (GRCm39) |
V30A |
possibly damaging |
Het |
Bcl2a1d |
T |
C |
9: 88,613,531 (GRCm39) |
D81G |
probably damaging |
Het |
Cep170b |
T |
C |
12: 112,701,601 (GRCm39) |
V160A |
probably benign |
Het |
Ces1c |
T |
C |
8: 93,857,470 (GRCm39) |
Y37C |
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,017,106 (GRCm39) |
L233P |
probably damaging |
Het |
Crem |
C |
A |
18: 3,273,459 (GRCm39) |
A245S |
possibly damaging |
Het |
Cyp2d12 |
C |
T |
15: 82,442,022 (GRCm39) |
A280V |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,382,381 (GRCm39) |
G1243D |
probably damaging |
Het |
Eif1ad19 |
A |
T |
12: 87,740,316 (GRCm39) |
L81Q |
possibly damaging |
Het |
Emcn |
T |
G |
3: 137,109,752 (GRCm39) |
N131K |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,908,444 (GRCm39) |
D2519E |
probably damaging |
Het |
Fibin |
T |
A |
2: 110,193,001 (GRCm39) |
D47V |
probably damaging |
Het |
Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
Gimap8 |
C |
A |
6: 48,627,187 (GRCm39) |
L54I |
probably damaging |
Het |
Gm20481 |
A |
G |
17: 35,189,071 (GRCm39) |
Y27C |
unknown |
Het |
Grin1 |
T |
G |
2: 25,203,550 (GRCm39) |
M154L |
probably benign |
Het |
Ighv8-13 |
A |
G |
12: 115,729,197 (GRCm39) |
L20P |
probably damaging |
Het |
Insc |
G |
A |
7: 114,410,850 (GRCm39) |
V236I |
probably benign |
Het |
Lrrk1 |
A |
G |
7: 65,935,027 (GRCm39) |
F1031L |
probably benign |
Het |
Man2a2 |
C |
A |
7: 80,009,499 (GRCm39) |
R785L |
probably benign |
Het |
Mcur1 |
C |
A |
13: 43,697,931 (GRCm39) |
|
probably null |
Het |
Med12l |
A |
C |
3: 59,165,675 (GRCm39) |
R1464S |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,520,115 (GRCm39) |
M767K |
possibly damaging |
Het |
Naalad2 |
T |
C |
9: 18,234,783 (GRCm39) |
I762V |
probably benign |
Het |
Nfkbid |
A |
G |
7: 30,125,681 (GRCm39) |
T357A |
possibly damaging |
Het |
Pcdh17 |
A |
G |
14: 84,770,989 (GRCm39) |
R1156G |
possibly damaging |
Het |
Pcdhb1 |
T |
C |
18: 37,400,445 (GRCm39) |
S799P |
possibly damaging |
Het |
Pde3a |
A |
T |
6: 141,444,472 (GRCm39) |
E1093D |
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
Plxna4 |
A |
G |
6: 32,494,199 (GRCm39) |
L139P |
probably damaging |
Het |
Psma1 |
A |
G |
7: 113,873,683 (GRCm39) |
Y6H |
probably damaging |
Het |
Psmd2 |
A |
G |
16: 20,471,377 (GRCm39) |
E76G |
probably benign |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Pyy |
T |
G |
11: 101,998,099 (GRCm39) |
D27A |
possibly damaging |
Het |
Slc22a2 |
A |
G |
17: 12,803,228 (GRCm39) |
T21A |
probably benign |
Het |
Slc25a2 |
T |
C |
18: 37,771,200 (GRCm39) |
I110V |
probably benign |
Het |
Sult1c2 |
A |
C |
17: 54,145,422 (GRCm39) |
W85G |
probably damaging |
Het |
Syt12 |
C |
T |
19: 4,503,978 (GRCm39) |
D218N |
probably damaging |
Het |
Tln1 |
C |
T |
4: 43,540,616 (GRCm39) |
V1462M |
probably damaging |
Het |
Tor1aip2 |
T |
A |
1: 155,927,722 (GRCm39) |
N33K |
possibly damaging |
Het |
Usp17lb |
C |
A |
7: 104,490,798 (GRCm39) |
W43L |
probably benign |
Het |
Vmn1r76 |
A |
G |
7: 11,664,612 (GRCm39) |
Y201H |
possibly damaging |
Het |
Wnk1 |
C |
A |
6: 120,015,173 (GRCm39) |
|
probably benign |
Het |
Wrnip1 |
A |
G |
13: 32,986,732 (GRCm39) |
D171G |
probably benign |
Het |
Zar1 |
T |
A |
5: 72,738,159 (GRCm39) |
N81I |
probably damaging |
Het |
Zbtb45 |
T |
C |
7: 12,741,083 (GRCm39) |
T392A |
probably benign |
Het |
Zfp445 |
T |
C |
9: 122,683,843 (GRCm39) |
E272G |
probably damaging |
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 |
IGL01722:Acvr1c
|
APN |
2 |
58,173,561 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGGGCATGCCAATTGTCTC -3'
(R):5'- CTTATGCTTTATAGGTAAGCCTGC -3'
Sequencing Primer
(F):5'- AGATTCTGGCCCCAATTGG -3'
(R):5'- ATAGGTAAGCCTGCTATTGCTCAC -3'
|
Posted On |
2019-05-15 |