Incidental Mutation 'R2178:Tgfb1'
| ID |
236997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgfb1
|
| Ensembl Gene |
ENSMUSG00000002603 |
| Gene Name |
transforming growth factor, beta 1 |
| Synonyms |
Tgfb, TGF-beta1, TGF-beta 1, Tgfb-1, TGFbeta1 |
| MMRRC Submission |
040180-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.443)
|
| Stock # |
R2178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
25386427-25404502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25404234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 347
(N347S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002678]
|
| AlphaFold |
P04202 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002678
AA Change: N347S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002678
Gene: ENSMUSG00000002603
AA Change: N347S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
29 |
261 |
3.2e-41 |
PFAM |
|
TGFB
|
293 |
390 |
1.95e-39 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. Mice lacking a functional copy of this gene develop severe multifocal inflammatory disease, yolk sac defects and colon cancer. [provided by RefSeq, Aug 2016]
PHENOTYPE: Many homozygous null mutants die in utero by day 10.5 from yolk sac vasculature and hemopoietic defects. Survivors die by 5 weeks with wasting syndrome, excess inflammatory response and tissue necrosis. On BALB/c, mice develop necroinflammatory hepatitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
A |
T |
15: 98,492,236 (GRCm39) |
N1007K |
probably damaging |
Het |
| Apon |
C |
A |
10: 128,090,634 (GRCm39) |
A104E |
probably benign |
Het |
| Cdh15 |
T |
A |
8: 123,591,715 (GRCm39) |
|
probably null |
Het |
| Cep135 |
T |
C |
5: 76,779,297 (GRCm39) |
V769A |
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,421,954 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
C |
3: 144,711,863 (GRCm39) |
N711D |
probably damaging |
Het |
| Col1a2 |
T |
C |
6: 4,531,143 (GRCm39) |
F731L |
unknown |
Het |
| Cpt1b |
T |
C |
15: 89,303,246 (GRCm39) |
E603G |
probably damaging |
Het |
| Cspp1 |
T |
G |
1: 10,174,471 (GRCm39) |
D641E |
possibly damaging |
Het |
| Ddr2 |
C |
T |
1: 169,822,251 (GRCm39) |
R399Q |
probably benign |
Het |
| Dzip1 |
T |
C |
14: 119,126,816 (GRCm39) |
|
probably null |
Het |
| Greb1 |
A |
G |
12: 16,746,388 (GRCm39) |
V1294A |
probably damaging |
Het |
| Hmgb4 |
A |
G |
4: 128,154,275 (GRCm39) |
S98P |
probably damaging |
Het |
| Kif12 |
G |
A |
4: 63,085,196 (GRCm39) |
P515L |
probably benign |
Het |
| Kmt5b |
A |
C |
19: 3,865,372 (GRCm39) |
E789A |
possibly damaging |
Het |
| Lama1 |
G |
T |
17: 68,076,510 (GRCm39) |
V1095F |
probably benign |
Het |
| Leprot |
T |
C |
4: 101,513,308 (GRCm39) |
V32A |
probably benign |
Het |
| Mcoln1 |
A |
G |
8: 3,558,766 (GRCm39) |
T255A |
probably damaging |
Het |
| Mertk |
G |
A |
2: 128,634,984 (GRCm39) |
E765K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,853 (GRCm39) |
T3600A |
possibly damaging |
Het |
| Ncapd3 |
A |
T |
9: 26,999,845 (GRCm39) |
E1395V |
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 58,956,616 (GRCm39) |
F25S |
probably benign |
Het |
| Or2a5 |
A |
G |
6: 42,873,732 (GRCm39) |
M116V |
probably benign |
Het |
| Or6z1 |
G |
T |
7: 6,504,487 (GRCm39) |
A246D |
probably damaging |
Het |
| Or7c70 |
T |
A |
10: 78,683,612 (GRCm39) |
I46F |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,269,924 (GRCm39) |
H1613N |
probably benign |
Het |
| Polq |
T |
C |
16: 36,883,191 (GRCm39) |
V1785A |
probably damaging |
Het |
| Pramel23 |
A |
T |
4: 143,424,612 (GRCm39) |
I277K |
possibly damaging |
Het |
| Prkar2a |
T |
C |
9: 108,617,737 (GRCm39) |
|
probably null |
Het |
| Qrich2 |
T |
C |
11: 116,334,603 (GRCm39) |
D2194G |
probably damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,333 (GRCm39) |
N155S |
probably benign |
Het |
| S1pr5 |
T |
C |
9: 21,155,760 (GRCm39) |
N222S |
probably benign |
Het |
| Scnn1a |
C |
T |
6: 125,307,965 (GRCm39) |
R170C |
probably damaging |
Het |
| Slc25a2 |
T |
C |
18: 37,771,311 (GRCm39) |
T73A |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,315,433 (GRCm39) |
V229A |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,115,941 (GRCm39) |
E313G |
probably benign |
Het |
| Tnfsf11 |
A |
G |
14: 78,521,682 (GRCm39) |
S176P |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vps39 |
C |
A |
2: 120,154,160 (GRCm39) |
E612* |
probably null |
Het |
| Vwf |
T |
A |
6: 125,619,095 (GRCm39) |
Y1258N |
possibly damaging |
Het |
|
| Other mutations in Tgfb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Tgfb1
|
APN |
7 |
25,387,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03028:Tgfb1
|
APN |
7 |
25,403,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Tgfb1
|
UTSW |
7 |
25,396,343 (GRCm39) |
missense |
probably benign |
|
|
R0004:Tgfb1
|
UTSW |
7 |
25,391,791 (GRCm39) |
splice site |
probably benign |
|
|
R0048:Tgfb1
|
UTSW |
7 |
25,393,779 (GRCm39) |
splice site |
probably benign |
|
|
R0048:Tgfb1
|
UTSW |
7 |
25,393,779 (GRCm39) |
splice site |
probably benign |
|
|
R0470:Tgfb1
|
UTSW |
7 |
25,387,355 (GRCm39) |
unclassified |
probably benign |
|
|
R1872:Tgfb1
|
UTSW |
7 |
25,391,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4581:Tgfb1
|
UTSW |
7 |
25,396,655 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5484:Tgfb1
|
UTSW |
7 |
25,387,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5663:Tgfb1
|
UTSW |
7 |
25,393,706 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5781:Tgfb1
|
UTSW |
7 |
25,396,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6548:Tgfb1
|
UTSW |
7 |
25,396,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6727:Tgfb1
|
UTSW |
7 |
25,388,587 (GRCm39) |
unclassified |
probably benign |
|
|
R7203:Tgfb1
|
UTSW |
7 |
25,391,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7449:Tgfb1
|
UTSW |
7 |
25,404,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7654:Tgfb1
|
UTSW |
7 |
25,387,120 (GRCm39) |
unclassified |
probably benign |
|
|
R8257:Tgfb1
|
UTSW |
7 |
25,396,373 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9124:Tgfb1
|
UTSW |
7 |
25,388,580 (GRCm39) |
nonsense |
probably null |
|
|
R9418:Tgfb1
|
UTSW |
7 |
25,391,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tgfb1
|
UTSW |
7 |
25,387,633 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAGAGAGCTAGTGATGT -3'
(R):5'- CTGTCACCTTTAATGGGCCC -3'
Sequencing Primer
(F):5'- GCTAGTGATGTGGAGAGATACAG -3'
(R):5'- GTGCAGGTGTCCTTAAATACAGCC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation