Incidental Mutation 'R3159:Tgfb3'
| ID |
258074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgfb3
|
| Ensembl Gene |
ENSMUSG00000021253 |
| Gene Name |
transforming growth factor, beta 3 |
| Synonyms |
Tgfb-3 |
| MMRRC Submission |
040610-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3159 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
86103519-86125815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86105760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 332
(W332R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003687]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003687
AA Change: W332R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003687
Gene: ENSMUSG00000021253
AA Change: W332R
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175844
|
| SMART Domains |
Protein: ENSMUSP00000134934
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
150 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
T |
C |
3: 37,013,564 (GRCm39) |
V1931A |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,604,790 (GRCm39) |
E16G |
unknown |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cdk15 |
T |
C |
1: 59,340,440 (GRCm39) |
I313T |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,704,909 (GRCm39) |
V464A |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,479,710 (GRCm39) |
T1146A |
probably benign |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm5145 |
A |
G |
17: 20,791,155 (GRCm39) |
I178V |
probably benign |
Het |
| Gxylt1 |
A |
G |
15: 93,142,913 (GRCm39) |
I384T |
probably benign |
Het |
| Hmgcr |
C |
T |
13: 96,802,355 (GRCm39) |
V110I |
probably damaging |
Het |
| Hsd17b2 |
A |
C |
8: 118,485,491 (GRCm39) |
D318A |
probably damaging |
Het |
| Ighv8-6 |
A |
G |
12: 115,129,508 (GRCm39) |
S83P |
probably damaging |
Het |
| Isg20 |
C |
A |
7: 78,564,201 (GRCm39) |
A36E |
possibly damaging |
Het |
| Jade3 |
A |
G |
X: 20,345,783 (GRCm39) |
K54E |
probably damaging |
Het |
| Mark1 |
A |
T |
1: 184,640,584 (GRCm39) |
Y505N |
probably damaging |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Ociad1 |
A |
T |
5: 73,467,688 (GRCm39) |
R155* |
probably null |
Het |
| Or5t7 |
A |
G |
2: 86,506,855 (GRCm39) |
I274T |
probably benign |
Het |
| Pcdha2 |
C |
T |
18: 37,074,250 (GRCm39) |
T627I |
probably damaging |
Het |
| Polg2 |
A |
C |
11: 106,659,163 (GRCm39) |
V450G |
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,646,105 (GRCm39) |
V33D |
possibly damaging |
Het |
| Rfx6 |
A |
T |
10: 51,602,816 (GRCm39) |
R778W |
probably damaging |
Het |
| Sav1 |
A |
T |
12: 70,031,326 (GRCm39) |
D65E |
probably benign |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,635,611 (GRCm39) |
N328K |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,766 (GRCm39) |
R351L |
probably damaging |
Het |
| Slc9b1 |
G |
A |
3: 135,077,606 (GRCm39) |
G100E |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,592,812 (GRCm39) |
Y1214H |
probably benign |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Tmem132a |
C |
T |
19: 10,836,901 (GRCm39) |
W680* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trav4-4-dv10 |
A |
T |
14: 53,921,559 (GRCm39) |
K86* |
probably null |
Het |
| Zfp667 |
T |
C |
7: 6,308,999 (GRCm39) |
C556R |
probably damaging |
Het |
| Zranb3 |
A |
G |
1: 127,900,686 (GRCm39) |
I713T |
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 |
|
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 |
|
R6762:Tgfb3
|
UTSW |
12 |
86,116,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7473:Tgfb3
|
UTSW |
12 |
86,108,923 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGATTTTCTCATCCAAGATTACC -3'
(R):5'- GAGTTACCTCCCATGATGGC -3'
Sequencing Primer
(F):5'- TCATCCAAGATTACCATTCATTCAAC -3'
(R):5'- CCATGATGGCCTCTTATAATGGCAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation