Incidental Mutation 'IGL02609:Tgfb3'
ID |
300412 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tgfb3
|
Ensembl Gene |
ENSMUSG00000021253 |
Gene Name |
transforming growth factor, beta 3 |
Synonyms |
Tgfb-3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02609
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
86103519-86125815 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 86124613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 32
(F32L)
|
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 benign
Transcript: ENSMUST00000003687
AA Change: F32L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000003687 Gene: ENSMUSG00000021253 AA Change: F32L
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
|
Coding Region Coverage |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,381,854 (GRCm39) |
|
probably benign |
Het |
Aadacl4fm5 |
T |
A |
4: 144,506,307 (GRCm39) |
D128V |
probably damaging |
Het |
Adcy10 |
T |
G |
1: 165,366,044 (GRCm39) |
Y520* |
probably null |
Het |
Agrn |
A |
T |
4: 156,259,680 (GRCm39) |
|
probably benign |
Het |
AI661453 |
A |
T |
17: 47,779,297 (GRCm39) |
|
probably benign |
Het |
Arhgap6 |
A |
G |
X: 167,961,062 (GRCm39) |
|
probably benign |
Het |
Asxl2 |
T |
C |
12: 3,550,018 (GRCm39) |
S587P |
probably damaging |
Het |
B3gntl1 |
A |
G |
11: 121,535,427 (GRCm39) |
|
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,180,224 (GRCm39) |
F2527L |
possibly damaging |
Het |
Baz2b |
T |
A |
2: 59,747,713 (GRCm39) |
M1317L |
possibly damaging |
Het |
Bcas3 |
A |
T |
11: 85,348,720 (GRCm39) |
K204I |
probably damaging |
Het |
Bpnt2 |
T |
A |
4: 4,767,763 (GRCm39) |
R338* |
probably null |
Het |
C1qtnf1 |
T |
C |
11: 118,338,830 (GRCm39) |
F167L |
probably damaging |
Het |
Cfap58 |
C |
T |
19: 47,963,941 (GRCm39) |
T523M |
possibly damaging |
Het |
Ddb1 |
T |
A |
19: 10,599,830 (GRCm39) |
C680S |
possibly damaging |
Het |
Eef1d |
T |
C |
15: 75,768,162 (GRCm39) |
Q200R |
probably null |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Gm28557 |
T |
A |
13: 67,219,083 (GRCm39) |
K214* |
probably null |
Het |
Gm8229 |
A |
C |
14: 44,604,082 (GRCm39) |
E90D |
probably benign |
Het |
Hhla1 |
T |
C |
15: 65,802,463 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
C |
T |
13: 42,309,130 (GRCm39) |
H457Y |
probably damaging |
Het |
Htr2c |
T |
C |
X: 145,976,756 (GRCm39) |
|
probably benign |
Het |
Ifi44 |
A |
T |
3: 151,438,134 (GRCm39) |
S384R |
probably damaging |
Het |
Kirrel2 |
T |
C |
7: 30,147,765 (GRCm39) |
T628A |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,749,674 (GRCm39) |
|
probably benign |
Het |
Larp4b |
T |
A |
13: 9,220,716 (GRCm39) |
I655N |
probably damaging |
Het |
Lrrd1 |
G |
A |
5: 3,908,803 (GRCm39) |
V692I |
probably benign |
Het |
Lypd8l |
A |
T |
11: 58,503,442 (GRCm39) |
C29S |
probably damaging |
Het |
Nes |
T |
C |
3: 87,884,528 (GRCm39) |
I929T |
probably benign |
Het |
Ogfr |
T |
C |
2: 180,234,308 (GRCm39) |
|
probably benign |
Het |
Pwwp3a |
A |
T |
10: 80,065,917 (GRCm39) |
E57V |
probably damaging |
Het |
Rfx2 |
G |
T |
17: 57,112,404 (GRCm39) |
P43Q |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sh3tc1 |
T |
C |
5: 35,864,516 (GRCm39) |
K495R |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,590,743 (GRCm39) |
C1310S |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stk35 |
T |
C |
2: 129,643,721 (GRCm39) |
V235A |
probably damaging |
Het |
Syde2 |
T |
G |
3: 145,704,275 (GRCm39) |
V142G |
probably benign |
Het |
Tmem35a |
T |
C |
X: 133,205,446 (GRCm39) |
F121L |
probably damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,281,289 (GRCm39) |
D963E |
probably benign |
Het |
Vmn1r26 |
A |
G |
6: 57,985,860 (GRCm39) |
S110P |
probably damaging |
Het |
Vpreb1b |
T |
C |
16: 17,798,558 (GRCm39) |
|
probably benign |
Het |
Xrn2 |
A |
T |
2: 146,891,945 (GRCm39) |
T721S |
probably benign |
Het |
|
Other mutations in Tgfb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-04-16 |