Incidental Mutation 'R4170:Gdf6'
| ID |
320732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdf6
|
| Ensembl Gene |
ENSMUSG00000051279 |
| Gene Name |
growth differentiation factor 6 |
| Synonyms |
BMP13 |
| MMRRC Submission |
040863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R4170 (G1)
|
| Quality Score |
184 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
9844372-9862345 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9859650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 244
(D244G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057613]
|
| AlphaFold |
P43028 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057613
AA Change: D244G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062884
Gene: ENSMUSG00000051279
AA Change: D244G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
35 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
67 |
284 |
9.9e-24 |
PFAM |
|
low complexity region
|
301 |
319 |
N/A |
INTRINSIC |
|
TGFB
|
353 |
454 |
8.92e-66 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| 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 required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mice lacking a functional copy of this gene exhibit joint and skeletal defects. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mice show multiple joint and skeletal patterning defects affecting the extremities, inner ear, and skull. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700047A11Rik |
T |
A |
8: 26,585,815 (GRCm39) |
T63S |
probably benign |
Het |
| Acap3 |
T |
A |
4: 155,984,458 (GRCm39) |
S189T |
possibly damaging |
Het |
| Acsbg2 |
G |
A |
17: 57,160,846 (GRCm39) |
T266I |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,035,933 (GRCm39) |
D1144G |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,223,143 (GRCm39) |
D365G |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,854,638 (GRCm39) |
D1542V |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,717,831 (GRCm39) |
V337D |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
T |
C |
14: 32,288,754 (GRCm39) |
L867P |
probably damaging |
Het |
| Get1 |
G |
A |
16: 95,954,176 (GRCm39) |
A92T |
probably benign |
Het |
| Gzmn |
T |
C |
14: 56,404,261 (GRCm39) |
D192G |
possibly damaging |
Het |
| Krt81 |
T |
A |
15: 101,359,193 (GRCm39) |
M242L |
probably benign |
Het |
| Lysmd3 |
C |
T |
13: 81,817,529 (GRCm39) |
Q169* |
probably null |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mmp23 |
C |
T |
4: 155,735,767 (GRCm39) |
R268Q |
probably damaging |
Het |
| Or1j17 |
C |
A |
2: 36,578,734 (GRCm39) |
T240N |
probably damaging |
Het |
| Or5p58 |
T |
A |
7: 107,694,280 (GRCm39) |
I166L |
probably benign |
Het |
| Prmt3 |
G |
T |
7: 49,476,524 (GRCm39) |
A378S |
probably benign |
Het |
| Ptf1a |
C |
T |
2: 19,451,819 (GRCm39) |
L273F |
possibly damaging |
Het |
| Ptpru |
A |
T |
4: 131,503,659 (GRCm39) |
Y1124N |
probably damaging |
Het |
| Rtkn |
T |
G |
6: 83,119,376 (GRCm39) |
M1R |
probably null |
Het |
| Rttn |
T |
A |
18: 88,993,847 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,886 (GRCm39) |
D468G |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Smarcd1 |
T |
C |
15: 99,605,812 (GRCm39) |
L320P |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,704,703 (GRCm39) |
M47L |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,920,037 (GRCm39) |
M2258T |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,800,988 (GRCm39) |
D1431E |
probably benign |
Het |
| Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
| Tut4 |
A |
G |
4: 108,405,256 (GRCm39) |
Y1293C |
probably damaging |
Het |
| Zbtb46 |
T |
C |
2: 181,066,148 (GRCm39) |
M1V |
probably null |
Het |
| Zfp7 |
T |
C |
15: 76,775,818 (GRCm39) |
V620A |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,083,832 (GRCm39) |
F95I |
probably damaging |
Het |
|
| Other mutations in Gdf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4469001:Gdf6
|
UTSW |
4 |
9,859,569 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0112:Gdf6
|
UTSW |
4 |
9,844,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0609:Gdf6
|
UTSW |
4 |
9,859,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Gdf6
|
UTSW |
4 |
9,859,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2101:Gdf6
|
UTSW |
4 |
9,860,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2220:Gdf6
|
UTSW |
4 |
9,844,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3832:Gdf6
|
UTSW |
4 |
9,844,568 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4077:Gdf6
|
UTSW |
4 |
9,844,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4258:Gdf6
|
UTSW |
4 |
9,844,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7023:Gdf6
|
UTSW |
4 |
9,860,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7383:Gdf6
|
UTSW |
4 |
9,859,537 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7449:Gdf6
|
UTSW |
4 |
9,844,494 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7992:Gdf6
|
UTSW |
4 |
9,844,652 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8058:Gdf6
|
UTSW |
4 |
9,859,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8738:Gdf6
|
UTSW |
4 |
9,859,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8802:Gdf6
|
UTSW |
4 |
9,844,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTCAGACAAAGAAGAGCTGG -3'
(R):5'- TGGACTTCTTGCCATGTCGC -3'
Sequencing Primer
(F):5'- GAAGAGCTGGTGGGCGC -3'
(R):5'- CCATGTCGCTTGCCGTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation