Incidental Mutation 'R8417:Gdf3'
| ID |
652993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdf3
|
| Ensembl Gene |
ENSMUSG00000030117 |
| Gene Name |
growth differentiation factor 3 |
| Synonyms |
Vgr2, Gdf-3, ecat9, Vgr-2 |
| MMRRC Submission |
067771-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8417 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
122582362-122587046 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 122583566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 267
(H267P)
|
| 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: H267P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032211
Gene: ENSMUSG00000030117
AA Change: H267P
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
T |
C |
9: 21,440,381 (GRCm39) |
|
probably null |
Het |
| Adamtsl1 |
G |
A |
4: 86,074,926 (GRCm39) |
D98N |
possibly damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,527,134 (GRCm39) |
T601A |
probably benign |
Het |
| Ankrd33 |
C |
A |
15: 101,017,330 (GRCm39) |
Q248K |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Casp12 |
G |
T |
9: 5,352,263 (GRCm39) |
C155F |
probably benign |
Het |
| Ccn6 |
T |
A |
10: 39,027,207 (GRCm39) |
R342* |
probably null |
Het |
| Clpp |
T |
C |
17: 57,297,661 (GRCm39) |
V81A |
probably benign |
Het |
| Cyp3a59 |
A |
T |
5: 146,027,495 (GRCm39) |
I89F |
possibly damaging |
Het |
| Fam227b |
C |
A |
2: 125,962,982 (GRCm39) |
W178L |
probably damaging |
Het |
| Fcna |
C |
A |
2: 25,514,863 (GRCm39) |
R332L |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,937,975 (GRCm39) |
D419G |
probably benign |
Het |
| Gm6882 |
A |
G |
7: 21,161,220 (GRCm39) |
V216A |
probably damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,520,603 (GRCm39) |
N78S |
probably benign |
Het |
| Hsd3b9 |
G |
A |
3: 98,363,731 (GRCm39) |
T38I |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,296,024 (GRCm39) |
I3579T |
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,311,590 (GRCm39) |
I942V |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,106,515 (GRCm39) |
Y1266H |
probably damaging |
Het |
| Lgi3 |
T |
C |
14: 70,772,246 (GRCm39) |
Y264H |
probably benign |
Het |
| Lmod2 |
G |
A |
6: 24,603,384 (GRCm39) |
E120K |
possibly damaging |
Het |
| Mbl2 |
G |
T |
19: 30,216,884 (GRCm39) |
C232F |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,281,103 (GRCm39) |
V214A |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,459,880 (GRCm39) |
C827* |
probably null |
Het |
| Or12k5 |
T |
A |
2: 36,894,658 (GRCm39) |
T323S |
probably benign |
Het |
| Or5t7 |
A |
G |
2: 86,507,149 (GRCm39) |
F176S |
probably damaging |
Het |
| Pbrm1 |
T |
A |
14: 30,749,419 (GRCm39) |
H72Q |
possibly damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,136 (GRCm39) |
I944V |
probably benign |
Het |
| Prdm8 |
A |
T |
5: 98,332,390 (GRCm39) |
D97V |
probably damaging |
Het |
| Preb |
G |
A |
5: 31,117,461 (GRCm39) |
|
probably benign |
Het |
| Prkcd |
T |
C |
14: 30,331,208 (GRCm39) |
K56E |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,501,438 (GRCm39) |
I391F |
probably damaging |
Het |
| Spata19 |
A |
G |
9: 27,309,266 (GRCm39) |
S91G |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,306,850 (GRCm39) |
T1134A |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 115,939,197 (GRCm39) |
M235K |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,249,097 (GRCm39) |
I212N |
probably damaging |
Het |
| Tnfrsf26 |
C |
T |
7: 143,168,639 (GRCm39) |
R133K |
probably benign |
Het |
| Trim43c |
C |
A |
9: 88,725,191 (GRCm39) |
Q238K |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,836,862 (GRCm39) |
D2894G |
probably benign |
Het |
| Zeb2 |
C |
T |
2: 44,913,008 (GRCm39) |
S105N |
probably damaging |
Het |
|
| Other mutations in Gdf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00561:Gdf3
|
APN |
6 |
122,584,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCCATATGCATCAGAGC -3'
(R):5'- ATTGGAGCAGCAACCGACTG -3'
Sequencing Primer
(F):5'- TATGCATCAGAGCCTGCATG -3'
(R):5'- TTCTGGTCAAAGAGGACAGATACTCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation