Incidental Mutation 'R1896:Acvr1c'
| ID |
211957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acvr1c
|
| Ensembl Gene |
ENSMUSG00000026834 |
| Gene Name |
activin A receptor, type IC |
| Synonyms |
Alk-7, ALK7 |
| MMRRC Submission |
039916-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1896 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
58157465-58247907 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 58170306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 277
(V277G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028178]
[ENSMUST00000100085]
[ENSMUST00000112607]
[ENSMUST00000112608]
|
| AlphaFold |
Q8K348 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028178
AA Change: V434G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028178
Gene: ENSMUSG00000026834
AA Change: V434G
| 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 |
unknown
Transcript: ENSMUST00000100085
AA Change: V304G
|
| SMART Domains |
Protein: ENSMUSP00000097663
Gene: ENSMUSG00000026834
AA Change: V304G
| 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 damaging
Transcript: ENSMUST00000112607
AA Change: V277G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108226
Gene: ENSMUSG00000026834
AA Change: V277G
| 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 damaging
Transcript: ENSMUST00000112608
AA Change: V354G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108227
Gene: ENSMUSG00000026834
AA Change: V354G
| 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
|
| Meta Mutation Damage Score |
0.8211 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
C |
A |
2: 26,733,609 (GRCm39) |
D199Y |
probably damaging |
Het |
| Adam23 |
G |
A |
1: 63,584,731 (GRCm39) |
A380T |
probably benign |
Het |
| Art2b |
A |
G |
7: 101,229,236 (GRCm39) |
V221A |
probably benign |
Het |
| Bcam |
A |
G |
7: 19,500,640 (GRCm39) |
S153P |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 36,962,380 (GRCm39) |
Q494* |
probably null |
Het |
| C1qtnf1 |
G |
T |
11: 118,334,583 (GRCm39) |
G21V |
probably damaging |
Het |
| Car13 |
T |
C |
3: 14,710,235 (GRCm39) |
I59T |
probably benign |
Het |
| Cep97 |
T |
C |
16: 55,748,107 (GRCm39) |
N108D |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,979,784 (GRCm39) |
E182D |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,611,514 (GRCm39) |
K452R |
probably benign |
Het |
| Endou |
A |
G |
15: 97,610,873 (GRCm39) |
Y404H |
probably damaging |
Het |
| F12 |
T |
C |
13: 55,568,540 (GRCm39) |
Y373C |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,660,375 (GRCm39) |
T405A |
probably damaging |
Het |
| Fetub |
A |
G |
16: 22,751,045 (GRCm39) |
R131G |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,379,767 (GRCm39) |
|
probably benign |
Het |
| Ggt5 |
T |
C |
10: 75,440,560 (GRCm39) |
V227A |
probably damaging |
Het |
| Gipr |
A |
G |
7: 18,897,996 (GRCm39) |
S79P |
probably benign |
Het |
| Gphn |
A |
G |
12: 78,459,128 (GRCm39) |
D72G |
possibly damaging |
Het |
| Gzmk |
A |
G |
13: 113,309,427 (GRCm39) |
S208P |
probably damaging |
Het |
| Itpkc |
T |
C |
7: 26,907,805 (GRCm39) |
D633G |
probably damaging |
Het |
| Jarid2 |
T |
C |
13: 45,038,358 (GRCm39) |
|
probably null |
Het |
| Kif21b |
C |
A |
1: 136,075,583 (GRCm39) |
R237S |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,098,218 (GRCm39) |
R1805H |
probably benign |
Het |
| Lpin3 |
C |
T |
2: 160,747,218 (GRCm39) |
P815S |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,395,867 (GRCm39) |
I2468F |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,388,475 (GRCm39) |
N1118S |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,890,384 (GRCm39) |
I90N |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,362,402 (GRCm39) |
T1408A |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,753 (GRCm39) |
D779G |
probably benign |
Het |
| Obox6 |
A |
T |
7: 15,568,770 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Pkd1l3 |
C |
A |
8: 110,350,831 (GRCm39) |
P559T |
possibly damaging |
Het |
| Pou2af2 |
A |
G |
9: 51,203,098 (GRCm39) |
S19P |
probably damaging |
Het |
| Pramel23 |
C |
G |
4: 143,424,714 (GRCm39) |
G243A |
probably benign |
Het |
| Prex1 |
T |
A |
2: 166,428,574 (GRCm39) |
I716F |
probably benign |
Het |
| Psap |
C |
T |
10: 60,130,826 (GRCm39) |
Q219* |
probably null |
Het |
| Rab5if |
C |
T |
2: 156,707,252 (GRCm39) |
P64S |
probably damaging |
Het |
| Shisa5 |
T |
A |
9: 108,885,108 (GRCm39) |
I126N |
probably damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,414,931 (GRCm39) |
L21P |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,194,167 (GRCm39) |
T172A |
probably damaging |
Het |
| Sned1 |
C |
T |
1: 93,192,769 (GRCm39) |
P352L |
probably benign |
Het |
| Sox4 |
T |
C |
13: 29,136,127 (GRCm39) |
Y293C |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,715,958 (GRCm39) |
H654L |
probably benign |
Het |
| Stra6 |
A |
T |
9: 58,059,166 (GRCm39) |
M510L |
probably benign |
Het |
| Syna |
C |
A |
5: 134,588,006 (GRCm39) |
M314I |
probably benign |
Het |
| Taf5l |
A |
G |
8: 124,730,152 (GRCm39) |
L144P |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,101,498 (GRCm39) |
F379L |
probably benign |
Het |
| Traf3ip3 |
A |
G |
1: 192,858,042 (GRCm39) |
V492A |
probably benign |
Het |
| Uba2 |
A |
G |
7: 33,850,455 (GRCm39) |
F364S |
probably damaging |
Het |
| Unc50 |
T |
A |
1: 37,476,323 (GRCm39) |
L161Q |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,282,206 (GRCm39) |
V1907A |
probably benign |
Het |
| Uso1 |
A |
T |
5: 92,348,992 (GRCm39) |
|
probably null |
Het |
| Utf1 |
C |
A |
7: 139,524,213 (GRCm39) |
L143I |
probably damaging |
Het |
| Vmn1r158 |
C |
T |
7: 22,490,143 (GRCm39) |
C22Y |
probably damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,756 (GRCm39) |
M40L |
probably benign |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,055 (GRCm39) |
V386A |
possibly damaging |
Het |
| Vps9d1 |
C |
A |
8: 123,973,778 (GRCm39) |
R335L |
probably damaging |
Het |
| Zbtb26 |
A |
G |
2: 37,326,347 (GRCm39) |
S230P |
possibly damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,569 (GRCm39) |
C380S |
probably damaging |
Het |
| Zfyve1 |
A |
C |
12: 83,602,388 (GRCm39) |
V469G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGGGGAGGAGCATGAC -3'
(R):5'- TTTCCAGGATACCGTGTGTG -3'
Sequencing Primer
(F):5'- TGACTGGGGAGGAGCATGAC -3'
(R):5'- GTTGGGCGGAAGTCAGTGTTATTAAC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation