Incidental Mutation 'R0053:Tgfb3'
ID |
64340 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgfb3
|
Ensembl Gene |
ENSMUSG00000021253 |
Gene Name |
transforming growth factor, beta 3 |
Synonyms |
Tgfb-3 |
MMRRC Submission |
038347-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0053 (G1)
|
Quality Score |
94 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
86103519-86125815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86124603 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 35
(I35N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003687
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003687]
[ENSMUST00000054565]
[ENSMUST00000222821]
[ENSMUST00000222905]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003687
AA Change: I35N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000003687 Gene: ENSMUSG00000021253 AA Change: I35N
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: ENSMUST00000054565
|
SMART Domains |
Protein: ENSMUSP00000061891 Gene: ENSMUSG00000007867
Domain | Start | End | E-Value | Type |
Pfam:IFT43
|
53 |
180 |
4.5e-52 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221194
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222693
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222821
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222905
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223269
|
Meta Mutation Damage Score |
0.5571 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.5%
|
Validation Efficiency |
100% (67/67) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
A |
T |
2: 163,574,212 (GRCm39) |
V148D |
probably damaging |
Het |
Alpi |
T |
C |
1: 87,026,512 (GRCm39) |
D493G |
probably benign |
Het |
Atp10b |
A |
G |
11: 43,107,391 (GRCm39) |
|
probably benign |
Het |
AY761185 |
A |
T |
8: 21,434,546 (GRCm39) |
|
probably benign |
Het |
Cadm1 |
C |
T |
9: 47,710,712 (GRCm39) |
T205I |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,322,318 (GRCm39) |
I413V |
possibly damaging |
Het |
Cblb |
C |
T |
16: 51,963,164 (GRCm39) |
T369I |
probably damaging |
Het |
Ccdc54 |
T |
A |
16: 50,410,597 (GRCm39) |
N223I |
probably benign |
Het |
Cdc25c |
A |
G |
18: 34,868,488 (GRCm39) |
V294A |
probably benign |
Het |
Cep170 |
A |
T |
1: 176,609,946 (GRCm39) |
S122T |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 15,967,451 (GRCm39) |
N849D |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,505,023 (GRCm39) |
W2051R |
probably benign |
Het |
Dpp3 |
A |
G |
19: 4,973,154 (GRCm39) |
C147R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
Fbxw9 |
T |
A |
8: 85,791,083 (GRCm39) |
L250Q |
probably damaging |
Het |
Gpr75 |
A |
T |
11: 30,842,571 (GRCm39) |
Q492L |
possibly damaging |
Het |
Gramd4 |
T |
A |
15: 86,014,339 (GRCm39) |
|
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,007,865 (GRCm39) |
C1488R |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Inava |
C |
T |
1: 136,155,288 (GRCm39) |
V106I |
probably benign |
Het |
Insr |
A |
G |
8: 3,205,683 (GRCm39) |
S1369P |
probably damaging |
Het |
Insrr |
A |
C |
3: 87,707,759 (GRCm39) |
D67A |
probably damaging |
Het |
Irf2 |
T |
A |
8: 47,271,886 (GRCm39) |
Y158N |
probably benign |
Het |
Katnbl1 |
A |
G |
2: 112,234,586 (GRCm39) |
R23G |
probably benign |
Het |
Lamb2 |
T |
A |
9: 108,363,936 (GRCm39) |
C987* |
probably null |
Het |
Lzts2 |
T |
C |
19: 45,014,746 (GRCm39) |
|
probably benign |
Het |
Mmp14 |
T |
A |
14: 54,676,109 (GRCm39) |
|
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,402,562 (GRCm39) |
Y258H |
probably damaging |
Het |
Nav3 |
A |
G |
10: 109,602,778 (GRCm39) |
|
probably benign |
Het |
Or10j7 |
T |
C |
1: 173,011,845 (GRCm39) |
D52G |
probably benign |
Het |
Or4c100 |
T |
A |
2: 88,356,507 (GRCm39) |
N193K |
probably damaging |
Het |
Parp10 |
T |
A |
15: 76,126,446 (GRCm39) |
L247F |
probably damaging |
Het |
Pcsk6 |
C |
T |
7: 65,633,451 (GRCm39) |
|
probably benign |
Het |
Pgap3 |
A |
T |
11: 98,281,924 (GRCm39) |
V129D |
probably benign |
Het |
Pibf1 |
A |
G |
14: 99,377,993 (GRCm39) |
Y373C |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,136,835 (GRCm39) |
E310G |
probably benign |
Het |
Plin3 |
T |
C |
17: 56,586,892 (GRCm39) |
D385G |
probably damaging |
Het |
Pole |
A |
T |
5: 110,441,206 (GRCm39) |
D220V |
probably damaging |
Het |
Ptprk |
T |
A |
10: 28,351,105 (GRCm39) |
F533I |
probably damaging |
Het |
Resf1 |
T |
A |
6: 149,229,088 (GRCm39) |
D711E |
probably benign |
Het |
Rufy1 |
A |
T |
11: 50,292,292 (GRCm39) |
M499K |
probably benign |
Het |
Scn1a |
T |
G |
2: 66,130,119 (GRCm39) |
D1232A |
probably benign |
Het |
Sec23ip |
T |
C |
7: 128,346,891 (GRCm39) |
L49P |
probably damaging |
Het |
Sf3b1 |
G |
A |
1: 55,039,532 (GRCm39) |
Q698* |
probably null |
Het |
Shprh |
A |
T |
10: 11,070,116 (GRCm39) |
|
probably null |
Het |
Snd1 |
C |
A |
6: 28,745,334 (GRCm39) |
|
probably benign |
Het |
Stab1 |
C |
T |
14: 30,862,644 (GRCm39) |
A2260T |
possibly damaging |
Het |
Stpg2 |
A |
G |
3: 138,918,082 (GRCm39) |
Q60R |
probably benign |
Het |
Strn |
T |
C |
17: 78,964,363 (GRCm39) |
H687R |
possibly damaging |
Het |
Tnks2 |
T |
C |
19: 36,852,765 (GRCm39) |
S166P |
probably damaging |
Het |
Tyw5 |
G |
A |
1: 57,440,597 (GRCm39) |
T55M |
probably damaging |
Het |
Usp19 |
A |
G |
9: 108,374,369 (GRCm39) |
|
probably null |
Het |
Zfp13 |
A |
T |
17: 23,795,122 (GRCm39) |
I483N |
probably damaging |
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 |
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 |
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'- TGGCATAGTACTCAGACTCCGAGG -3'
(R):5'- GCGTTGGGCGATATCAGATATCCG -3'
Sequencing Primer
(F):5'- AGGTCTCCTGAGTGCAGC -3'
(R):5'- TGGGAGTCCTGAAGCTCAC -3'
|
Posted On |
2013-08-06 |