Incidental Mutation 'IGL00757:Tgfbr1'
| ID |
14442 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tgfbr1
|
| Ensembl Gene |
ENSMUSG00000007613 |
| Gene Name |
transforming growth factor, beta receptor I |
| Synonyms |
TbetaR-I, ALK5, Alk-5, TbetaRI |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00757
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
47353222-47414926 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 47405581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 326
(S326T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007757]
[ENSMUST00000044234]
[ENSMUST00000107725]
[ENSMUST00000126171]
|
| AlphaFold |
Q64729 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007757
AA Change: S395T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000007757
Gene: ENSMUSG00000007613
AA Change: S395T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
Pfam:Activin_recp
|
30 |
110 |
2.7e-16 |
PFAM |
|
transmembrane domain
|
126 |
148 |
N/A |
INTRINSIC |
|
GS
|
175 |
205 |
1.01e-14 |
SMART |
|
Blast:STYKc
|
207 |
492 |
7e-31 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044234
AA Change: S391T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000048501
Gene: ENSMUSG00000007613
AA Change: S391T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
Pfam:Activin_recp
|
30 |
110 |
1.6e-14 |
PFAM |
|
transmembrane domain
|
122 |
144 |
N/A |
INTRINSIC |
|
GS
|
171 |
201 |
1.01e-14 |
SMART |
|
Blast:STYKc
|
203 |
488 |
8e-31 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107725
AA Change: S312T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103353
Gene: ENSMUSG00000007613
AA Change: S312T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
43 |
65 |
N/A |
INTRINSIC |
|
GS
|
92 |
122 |
1.01e-14 |
SMART |
|
Blast:STYKc
|
124 |
409 |
3e-31 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126171
AA Change: S326T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123761
Gene: ENSMUSG00000007613
AA Change: S326T
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3KFD|L
|
1 |
45 |
3e-26 |
PDB |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
GS
|
106 |
136 |
1.01e-14 |
SMART |
|
Blast:STYKc
|
138 |
423 |
3e-31 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the transforming growth factor beta (TGF-beta) receptor family of proteins. These proteins comprise one component of the TGF-beta signaling pathway, which transduces extracellular signals into gene expression changes to regulate a wide range of cellular responses, including proliferation, migration, differentiation and apoptosis. Homozygous knockout mice for this gene exhibit impaired angiogenesis and embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for some targeted null mutations exhibit defects of the yolk sac and placenta, lack circulating erythrocytes, and die at midgestation. Mutant endothelial cells show enhanced proliferation, improper migration, and reduced fibronectin production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
A |
C |
9: 54,530,003 (GRCm39) |
I231R |
possibly damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,596,696 (GRCm39) |
P94S |
probably damaging |
Het |
| Cldn34b3 |
T |
C |
X: 75,310,978 (GRCm39) |
I182T |
possibly damaging |
Het |
| Cps1 |
T |
A |
1: 67,191,539 (GRCm39) |
|
probably benign |
Het |
| Cwf19l2 |
G |
T |
9: 3,460,054 (GRCm39) |
A781S |
probably damaging |
Het |
| Cyp4v3 |
T |
C |
8: 45,773,652 (GRCm39) |
I172M |
probably damaging |
Het |
| Fcgbpl1 |
T |
G |
7: 27,853,870 (GRCm39) |
C1611W |
probably damaging |
Het |
| Gmnc |
T |
G |
16: 26,782,689 (GRCm39) |
D22A |
probably damaging |
Het |
| Gpr89 |
T |
A |
3: 96,778,850 (GRCm39) |
T408S |
probably benign |
Het |
| Grk2 |
A |
G |
19: 4,339,339 (GRCm39) |
|
probably null |
Het |
| Kctd3 |
A |
G |
1: 188,704,393 (GRCm39) |
S793P |
probably damaging |
Het |
| Lhx1 |
A |
G |
11: 84,410,478 (GRCm39) |
F373S |
probably damaging |
Het |
| Mgl2 |
A |
T |
11: 70,025,976 (GRCm39) |
I71F |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,234,302 (GRCm39) |
I91N |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,939,552 (GRCm39) |
D2110E |
probably damaging |
Het |
| Pde9a |
A |
G |
17: 31,662,146 (GRCm39) |
E90G |
probably benign |
Het |
| Plaat5 |
G |
T |
19: 7,591,924 (GRCm39) |
E113D |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
| R3hdm1 |
T |
G |
1: 128,164,176 (GRCm39) |
I1030R |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,633,490 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
A |
G |
12: 103,659,721 (GRCm39) |
I187T |
probably damaging |
Het |
| Slc22a16 |
C |
T |
10: 40,457,323 (GRCm39) |
T188M |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,901,440 (GRCm39) |
H1500R |
probably benign |
Het |
| Sptlc2 |
C |
T |
12: 87,415,842 (GRCm39) |
E62K |
probably damaging |
Het |
| Tgif1 |
A |
G |
17: 71,153,235 (GRCm39) |
Y39H |
probably damaging |
Het |
|
| Other mutations in Tgfbr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00708:Tgfbr1
|
APN |
4 |
47,383,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02001:Tgfbr1
|
APN |
4 |
47,403,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Tgfbr1
|
APN |
4 |
47,410,785 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02338:Tgfbr1
|
APN |
4 |
47,393,490 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4480001:Tgfbr1
|
UTSW |
4 |
47,402,955 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0097:Tgfbr1
|
UTSW |
4 |
47,403,451 (GRCm39) |
nonsense |
probably null |
|
|
R0097:Tgfbr1
|
UTSW |
4 |
47,403,451 (GRCm39) |
nonsense |
probably null |
|
|
R1299:Tgfbr1
|
UTSW |
4 |
47,396,587 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1444:Tgfbr1
|
UTSW |
4 |
47,393,259 (GRCm39) |
missense |
probably benign |
|
|
R1530:Tgfbr1
|
UTSW |
4 |
47,410,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Tgfbr1
|
UTSW |
4 |
47,403,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1611:Tgfbr1
|
UTSW |
4 |
47,396,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2327:Tgfbr1
|
UTSW |
4 |
47,402,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4352:Tgfbr1
|
UTSW |
4 |
47,402,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4736:Tgfbr1
|
UTSW |
4 |
47,383,835 (GRCm39) |
missense |
probably benign |
|
|
R5180:Tgfbr1
|
UTSW |
4 |
47,383,948 (GRCm39) |
nonsense |
probably null |
|
|
R5907:Tgfbr1
|
UTSW |
4 |
47,396,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6462:Tgfbr1
|
UTSW |
4 |
47,402,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6842:Tgfbr1
|
UTSW |
4 |
47,383,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7017:Tgfbr1
|
UTSW |
4 |
47,410,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7206:Tgfbr1
|
UTSW |
4 |
47,402,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Tgfbr1
|
UTSW |
4 |
47,405,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7862:Tgfbr1
|
UTSW |
4 |
47,403,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8210:Tgfbr1
|
UTSW |
4 |
47,406,924 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8787:Tgfbr1
|
UTSW |
4 |
47,405,555 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
RF013:Tgfbr1
|
UTSW |
4 |
47,353,354 (GRCm39) |
missense |
unknown |
|
|
Z1176:Tgfbr1
|
UTSW |
4 |
47,353,790 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation