Incidental Mutation 'R6762:Tgfb3'
| ID |
531757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgfb3
|
| Ensembl Gene |
ENSMUSG00000021253 |
| Gene Name |
transforming growth factor, beta 3 |
| Synonyms |
Tgfb-3 |
| MMRRC Submission |
044878-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6762 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
86103519-86125815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86116237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 177
(D177G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003687]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003687
AA Change: D177G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000003687
Gene: ENSMUSG00000021253
AA Change: D177G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
23 |
281 |
2.7e-38 |
PFAM |
|
TGFB
|
315 |
412 |
5.35e-37 |
SMART |
|
| Meta Mutation Damage Score |
0.0711 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (45/45) |
| 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 protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Homozygous knockout mice for this gene exhibit cleft palate, delayed pulmonary development and neonatal death. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cleft palate, lung hypoplasia, hemothorax, impaired suckling, respiratory distress, and neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,867 (GRCm39) |
Y27H |
probably benign |
Het |
| Angptl3 |
T |
A |
4: 98,925,654 (GRCm39) |
S327T |
possibly damaging |
Het |
| Arl6ip4 |
GGAAGAAGAAGAAGAAGAA |
GGAAGAAGAAGAAGAAGAAGAA |
5: 124,255,113 (GRCm39) |
|
probably benign |
Het |
| Cyp2s1 |
A |
T |
7: 25,507,495 (GRCm39) |
L318H |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,584,824 (GRCm39) |
L3185P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,263,902 (GRCm39) |
V2128A |
probably benign |
Het |
| Ehhadh |
A |
T |
16: 21,581,209 (GRCm39) |
F594L |
probably benign |
Het |
| En2 |
A |
G |
5: 28,375,351 (GRCm39) |
N298S |
possibly damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,585 (GRCm39) |
N140Y |
probably damaging |
Het |
| Fam151b |
C |
T |
13: 92,604,558 (GRCm39) |
V144I |
possibly damaging |
Het |
| Fanca |
C |
A |
8: 123,998,042 (GRCm39) |
A1215S |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,562,977 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,144,308 (GRCm39) |
|
probably null |
Het |
| Gm4513 |
T |
C |
7: 20,328,118 (GRCm39) |
N31S |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,279,114 (GRCm39) |
I3066F |
possibly damaging |
Het |
| Krt10 |
T |
C |
11: 99,277,883 (GRCm39) |
T355A |
possibly damaging |
Het |
| Lims1 |
C |
A |
10: 58,248,367 (GRCm39) |
H275N |
probably damaging |
Het |
| Map3k19 |
C |
T |
1: 127,775,001 (GRCm39) |
G112D |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,676,786 (GRCm39) |
N619K |
possibly damaging |
Het |
| Mtor |
A |
G |
4: 148,622,938 (GRCm39) |
T1977A |
possibly damaging |
Het |
| Nos2 |
T |
G |
11: 78,850,574 (GRCm39) |
L1144R |
possibly damaging |
Het |
| Or52ae7 |
G |
C |
7: 103,119,596 (GRCm39) |
V117L |
probably benign |
Het |
| Or6c68 |
G |
A |
10: 129,158,125 (GRCm39) |
C211Y |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,188 (GRCm39) |
F205I |
probably benign |
Het |
| Pals2 |
T |
A |
6: 50,157,418 (GRCm39) |
|
probably null |
Het |
| Pcdhga9 |
C |
A |
18: 37,870,321 (GRCm39) |
S50Y |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,487 (GRCm39) |
M108K |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,024,219 (GRCm39) |
|
probably null |
Het |
| Qtrt1 |
T |
A |
9: 21,323,378 (GRCm39) |
H76Q |
probably damaging |
Het |
| Rpa1 |
T |
A |
11: 75,231,171 (GRCm39) |
S73C |
possibly damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,702 (GRCm39) |
V157A |
probably damaging |
Het |
| Snapc3 |
T |
C |
4: 83,353,495 (GRCm39) |
L178P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,093,633 (GRCm39) |
F1340L |
probably damaging |
Het |
| Srd5a3 |
T |
A |
5: 76,301,398 (GRCm39) |
I85K |
probably benign |
Het |
| Taar2 |
C |
T |
10: 23,817,300 (GRCm39) |
T280M |
probably damaging |
Het |
| Tpt1 |
A |
G |
14: 76,083,821 (GRCm39) |
D94G |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,954,240 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
C |
T |
5: 114,763,171 (GRCm39) |
R746H |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,967 (GRCm39) |
D70G |
probably damaging |
Het |
| Ugcg |
T |
A |
4: 59,219,530 (GRCm39) |
I289N |
possibly damaging |
Het |
| Vmn2r2 |
C |
G |
3: 64,041,870 (GRCm39) |
D282H |
probably damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,787,010 (GRCm39) |
N32K |
probably benign |
Het |
| Wdpcp |
C |
T |
11: 21,671,244 (GRCm39) |
T495I |
probably benign |
Het |
| Zfp961 |
T |
A |
8: 72,719,958 (GRCm39) |
C51S |
possibly damaging |
Het |
| Zxdc |
C |
T |
6: 90,359,165 (GRCm39) |
A599V |
probably benign |
Het |
|
| Other mutations in Tgfb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02609:Tgfb3
|
APN |
12 |
86,124,613 (GRCm39) |
missense |
probably benign |
|
|
IGL02899:Tgfb3
|
APN |
12 |
86,116,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03276:Tgfb3
|
APN |
12 |
86,104,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0050:Tgfb3
|
UTSW |
12 |
86,116,658 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0053:Tgfb3
|
UTSW |
12 |
86,124,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Tgfb3
|
UTSW |
12 |
86,124,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0976:Tgfb3
|
UTSW |
12 |
86,116,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Tgfb3
|
UTSW |
12 |
86,105,841 (GRCm39) |
intron |
probably benign |
|
|
R1474:Tgfb3
|
UTSW |
12 |
86,116,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1686:Tgfb3
|
UTSW |
12 |
86,116,517 (GRCm39) |
splice site |
probably benign |
|
|
R1826:Tgfb3
|
UTSW |
12 |
86,108,818 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2105:Tgfb3
|
UTSW |
12 |
86,116,543 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2294:Tgfb3
|
UTSW |
12 |
86,116,684 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3159:Tgfb3
|
UTSW |
12 |
86,105,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4590:Tgfb3
|
UTSW |
12 |
86,124,589 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4866:Tgfb3
|
UTSW |
12 |
86,124,588 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4868:Tgfb3
|
UTSW |
12 |
86,108,955 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5104:Tgfb3
|
UTSW |
12 |
86,105,756 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6030:Tgfb3
|
UTSW |
12 |
86,110,624 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6030:Tgfb3
|
UTSW |
12 |
86,110,624 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6213:Tgfb3
|
UTSW |
12 |
86,104,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Tgfb3
|
UTSW |
12 |
86,124,615 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6331:Tgfb3
|
UTSW |
12 |
86,110,638 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7473:Tgfb3
|
UTSW |
12 |
86,108,923 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGCTGAACCCAGATGTG -3'
(R):5'- CAGCCTCTGTCATTAAGAGGG -3'
Sequencing Primer
(F):5'- AACCCAGATGTGTGGTTCC -3'
(R):5'- TTAAGAGGGCTGCATTACCC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation