Incidental Mutation 'IGL00561:Gdf3'
| ID |
5377 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gdf3
|
| Ensembl Gene |
ENSMUSG00000030117 |
| Gene Name |
growth differentiation factor 3 |
| Synonyms |
Vgr2, Gdf-3, ecat9, Vgr-2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00561
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
122582362-122587046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122584085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 94
(L94P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032211]
[ENSMUST00000112585]
[ENSMUST00000112586]
[ENSMUST00000147760]
[ENSMUST00000203197]
[ENSMUST00000203309]
|
| AlphaFold |
Q07104 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032211
AA Change: L94P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032211
Gene: ENSMUSG00000030117
AA Change: L94P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
68 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
91 |
222 |
3.1e-7 |
PFAM |
|
TGFB
|
266 |
366 |
6.86e-67 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112585
|
| SMART Domains |
Protein: ENSMUSP00000108204
Gene: ENSMUSG00000040613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APOBEC_N
|
15 |
181 |
3.6e-38 |
PFAM |
|
Pfam:APOBEC_C
|
124 |
178 |
9.5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112586
|
| SMART Domains |
Protein: ENSMUSP00000108205
Gene: ENSMUSG00000040613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APOBEC_N
|
15 |
181 |
3.6e-38 |
PFAM |
|
Pfam:APOBEC_C
|
124 |
178 |
9.5e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143356
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203197
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203309
|
| SMART Domains |
Protein: ENSMUSP00000145417
Gene: ENSMUSG00000040613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APOBEC_N
|
21 |
121 |
1.6e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204882
|
| 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 each subunit of the disulfide-linked homodimer. This protein is important in embryogenesis and likely plays a role ocular and skeletal development. Mice lacking a functional copy of this gene exhibit defects in early embryonic development resulting in embryonic lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit prenatal lethality and resistance to diet-induced obesity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
T |
A |
4: 73,860,956 (GRCm39) |
T215S |
possibly damaging |
Het |
| Bcl6b |
T |
C |
11: 70,119,310 (GRCm39) |
|
probably benign |
Het |
| C8a |
G |
A |
4: 104,722,642 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
G |
A |
2: 125,405,643 (GRCm39) |
Q1630* |
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
| Elovl5 |
G |
A |
9: 77,868,256 (GRCm39) |
R56Q |
probably benign |
Het |
| Fcf1 |
T |
C |
12: 85,019,835 (GRCm39) |
V36A |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,450,836 (GRCm39) |
H705L |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,206,421 (GRCm39) |
C83S |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,135,245 (GRCm39) |
S798T |
probably benign |
Het |
| Morc3 |
G |
T |
16: 93,670,283 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,096,117 (GRCm39) |
N1049K |
probably benign |
Het |
| Nlrp6 |
A |
G |
7: 140,503,037 (GRCm39) |
D381G |
probably damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,042,827 (GRCm39) |
D2303V |
probably damaging |
Het |
| Prss45 |
A |
T |
9: 110,669,578 (GRCm39) |
N227I |
probably damaging |
Het |
| Rbbp6 |
G |
A |
7: 122,570,286 (GRCm39) |
M34I |
probably damaging |
Het |
| Slc30a7 |
T |
C |
3: 115,740,369 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
T |
C |
10: 57,684,042 (GRCm39) |
Y267H |
probably benign |
Het |
| Snw1 |
A |
G |
12: 87,497,574 (GRCm39) |
|
probably null |
Het |
| Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
| Tbx19 |
A |
G |
1: 164,987,968 (GRCm39) |
V55A |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,850,508 (GRCm39) |
S1059P |
probably damaging |
Het |
| Tpo |
G |
A |
12: 30,134,619 (GRCm39) |
P780S |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,570,055 (GRCm39) |
T26946M |
probably damaging |
Het |
| Vps33b |
A |
G |
7: 79,935,591 (GRCm39) |
E372G |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,619,684 (GRCm39) |
V1454A |
possibly damaging |
Het |
| Zbbx |
C |
T |
3: 74,968,839 (GRCm39) |
|
probably null |
Het |
| Zfp747l1 |
T |
A |
7: 126,985,716 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gdf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0396:Gdf3
|
UTSW |
6 |
122,584,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Gdf3
|
UTSW |
6 |
122,583,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Gdf3
|
UTSW |
6 |
122,586,724 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1762:Gdf3
|
UTSW |
6 |
122,583,366 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1824:Gdf3
|
UTSW |
6 |
122,586,921 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2696:Gdf3
|
UTSW |
6 |
122,583,859 (GRCm39) |
missense |
probably benign |
|
|
R3963:Gdf3
|
UTSW |
6 |
122,583,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4113:Gdf3
|
UTSW |
6 |
122,584,016 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5090:Gdf3
|
UTSW |
6 |
122,586,713 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5257:Gdf3
|
UTSW |
6 |
122,583,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7132:Gdf3
|
UTSW |
6 |
122,583,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Gdf3
|
UTSW |
6 |
122,583,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8171:Gdf3
|
UTSW |
6 |
122,586,862 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8417:Gdf3
|
UTSW |
6 |
122,583,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8784:Gdf3
|
UTSW |
6 |
122,583,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Gdf3
|
UTSW |
6 |
122,583,942 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8929:Gdf3
|
UTSW |
6 |
122,586,756 (GRCm39) |
missense |
|
|
|
| Posted On |
2012-04-20 |
Incidental Mutation