Incidental Mutation 'IGL03276:Tgfb3'
| ID |
415428 |
| 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 # |
IGL03276
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
86103519-86125815 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86104642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 384
(E384G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003687]
[ENSMUST00000040179]
[ENSMUST00000040273]
[ENSMUST00000110224]
[ENSMUST00000155448]
[ENSMUST00000177114]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003687
AA Change: E384G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003687
Gene: ENSMUSG00000021253
AA Change: E384G
| 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: ENSMUST00000040179
|
| SMART Domains |
Protein: ENSMUSP00000048809
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
1.9e-94 |
PFAM |
|
low complexity region
|
556 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040273
|
| SMART Domains |
Protein: ENSMUSP00000039939
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
1e-94 |
PFAM |
|
low complexity region
|
556 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110224
|
| SMART Domains |
Protein: ENSMUSP00000105853
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
1e-94 |
PFAM |
|
low complexity region
|
543 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
1153 |
1167 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155448
|
| SMART Domains |
Protein: ENSMUSP00000134971
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
6.4e-95 |
PFAM |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177114
|
| SMART Domains |
Protein: ENSMUSP00000135395
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TTL
|
110 |
407 |
2.1e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220906
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177525
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177168
|
| SMART Domains |
Protein: ENSMUSP00000134874
Gene: ENSMUSG00000012609
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
617 |
N/A |
INTRINSIC |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef25 |
A |
C |
10: 127,021,794 (GRCm39) |
F202V |
possibly damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,641,359 (GRCm39) |
N336Y |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,789,268 (GRCm39) |
D381G |
possibly damaging |
Het |
| Cabin1 |
A |
T |
10: 75,568,247 (GRCm39) |
L912Q |
probably damaging |
Het |
| Fam83e |
A |
G |
7: 45,372,884 (GRCm39) |
D165G |
possibly damaging |
Het |
| Foxn1 |
T |
A |
11: 78,261,950 (GRCm39) |
T140S |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,416,331 (GRCm39) |
|
probably benign |
Het |
| Kctd8 |
A |
T |
5: 69,497,929 (GRCm39) |
M239K |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,838 (GRCm39) |
C7S |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,379,669 (GRCm39) |
|
probably benign |
Het |
| Klrb1b |
T |
C |
6: 128,792,168 (GRCm39) |
N191S |
probably benign |
Het |
| Krt35 |
C |
T |
11: 99,983,953 (GRCm39) |
S349N |
probably benign |
Het |
| Krt75 |
A |
T |
15: 101,476,811 (GRCm39) |
D359E |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,242 (GRCm39) |
D109G |
unknown |
Het |
| Lsm12 |
T |
G |
11: 102,073,770 (GRCm39) |
I58L |
probably benign |
Het |
| Mxd4 |
T |
C |
5: 34,335,088 (GRCm39) |
D99G |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,163,615 (GRCm39) |
N927K |
probably damaging |
Het |
| Olfm2 |
A |
G |
9: 20,580,083 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,457,980 (GRCm39) |
V4103A |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,507,260 (GRCm39) |
|
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,707,065 (GRCm39) |
T242A |
possibly damaging |
Het |
| Srp19 |
A |
C |
18: 34,464,843 (GRCm39) |
T28P |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,963,603 (GRCm39) |
V943I |
possibly damaging |
Het |
| Tmem39a |
T |
A |
16: 38,405,646 (GRCm39) |
N74K |
probably benign |
Het |
| Tnfrsf11a |
A |
G |
1: 105,749,215 (GRCm39) |
Y211C |
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 |
|
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 |
2016-08-02 |
Incidental Mutation