Incidental Mutation 'IGL01287:Acvr1c'
| ID |
72785 |
| 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 # |
IGL01287
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
58157465-58247907 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 58170254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 371
(C371*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028178]
[ENSMUST00000100085]
[ENSMUST00000112607]
[ENSMUST00000112608]
|
| AlphaFold |
Q8K348 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028178
AA Change: C451*
|
| SMART Domains |
Protein: ENSMUSP00000028178
Gene: ENSMUSG00000026834
AA Change: C451*
| 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
AA Change: C321*
|
| SMART Domains |
Protein: ENSMUSP00000097663
Gene: ENSMUSG00000026834
AA Change: C321*
| 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
AA Change: C294*
|
| SMART Domains |
Protein: ENSMUSP00000108226
Gene: ENSMUSG00000026834
AA Change: C294*
| 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
AA Change: C371*
|
| SMART Domains |
Protein: ENSMUSP00000108227
Gene: ENSMUSG00000026834
AA Change: C371*
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,040 (GRCm39) |
K445E |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,932,081 (GRCm39) |
|
probably benign |
Het |
| Acsbg3 |
C |
T |
17: 57,189,203 (GRCm39) |
Q204* |
probably null |
Het |
| Brs3 |
T |
C |
X: 56,092,727 (GRCm39) |
|
probably benign |
Het |
| Car14 |
C |
T |
3: 95,806,871 (GRCm39) |
V198M |
possibly damaging |
Het |
| Cenpc1 |
G |
A |
5: 86,170,313 (GRCm39) |
R704* |
probably null |
Het |
| Crybg1 |
C |
T |
10: 43,868,490 (GRCm39) |
R1396H |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,315,377 (GRCm39) |
S3019P |
probably damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,471,665 (GRCm39) |
E222G |
probably benign |
Het |
| Defb50 |
C |
A |
8: 22,321,187 (GRCm39) |
T59K |
probably benign |
Het |
| Dlg3 |
T |
C |
X: 99,850,848 (GRCm39) |
I587T |
possibly damaging |
Het |
| Doc2a |
C |
T |
7: 126,450,173 (GRCm39) |
R204C |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,212,503 (GRCm39) |
|
probably benign |
Het |
| Gm8257 |
A |
T |
14: 44,892,800 (GRCm39) |
F67I |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,426,323 (GRCm39) |
N509K |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,028,625 (GRCm39) |
I678F |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,533 (GRCm39) |
E223G |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,304,293 (GRCm39) |
D157E |
probably damaging |
Het |
| Ltk |
T |
A |
2: 119,586,186 (GRCm39) |
T21S |
probably benign |
Het |
| Lvrn |
A |
T |
18: 46,997,733 (GRCm39) |
|
probably benign |
Het |
| Maob |
G |
A |
X: 16,578,881 (GRCm39) |
A424V |
probably damaging |
Het |
| Myo1g |
C |
A |
11: 6,465,856 (GRCm39) |
V410F |
possibly damaging |
Het |
| Myorg |
T |
A |
4: 41,498,923 (GRCm39) |
I236F |
possibly damaging |
Het |
| Naxe |
T |
C |
3: 87,963,981 (GRCm39) |
H250R |
probably damaging |
Het |
| Nek5 |
T |
C |
8: 22,601,199 (GRCm39) |
N174S |
possibly damaging |
Het |
| Or2y3 |
G |
T |
17: 38,392,998 (GRCm39) |
N290K |
probably damaging |
Het |
| Or51l14 |
C |
T |
7: 103,101,002 (GRCm39) |
R153W |
probably damaging |
Het |
| Or9m2 |
A |
G |
2: 87,821,288 (GRCm39) |
T278A |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,656,027 (GRCm39) |
T285A |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,892,086 (GRCm39) |
S141P |
probably benign |
Het |
| Pmm1 |
T |
C |
15: 81,839,945 (GRCm39) |
T127A |
probably damaging |
Het |
| Proc |
C |
A |
18: 32,256,873 (GRCm39) |
|
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,633,980 (GRCm39) |
E142G |
probably damaging |
Het |
| Recql4 |
C |
A |
15: 76,594,112 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,324,336 (GRCm39) |
P955S |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,539,418 (GRCm39) |
N3274I |
probably damaging |
Het |
| Serpinb10 |
T |
C |
1: 107,468,612 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,404,811 (GRCm39) |
K848* |
probably null |
Het |
| Slfn5 |
A |
G |
11: 82,847,807 (GRCm39) |
T231A |
probably damaging |
Het |
| Syncrip |
T |
C |
9: 88,338,660 (GRCm39) |
|
probably benign |
Het |
| Syt16 |
A |
T |
12: 74,313,513 (GRCm39) |
T480S |
probably damaging |
Het |
| Taf1c |
G |
A |
8: 120,327,931 (GRCm39) |
T293M |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,120,826 (GRCm39) |
D430G |
possibly damaging |
Het |
| Tbx18 |
T |
C |
9: 87,606,384 (GRCm39) |
T254A |
probably damaging |
Het |
| Tpm1 |
C |
T |
9: 66,943,337 (GRCm39) |
R105H |
probably damaging |
Het |
| Usp17la |
T |
C |
7: 104,510,522 (GRCm39) |
S376P |
probably benign |
Het |
| Vmn1r19 |
A |
G |
6: 57,382,179 (GRCm39) |
D244G |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,054 (GRCm39) |
F59I |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,622 (GRCm39) |
M136K |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,218,227 (GRCm39) |
R24* |
probably null |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,801 (GRCm39) |
I671F |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation