Incidental Mutation 'PIT4469001:Gdf6'
ID |
555820 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gdf6
|
Ensembl Gene |
ENSMUSG00000051279 |
Gene Name |
growth differentiation factor 6 |
Synonyms |
BMP13 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.167)
|
Stock # |
PIT4469001 (G1)
|
Quality Score |
205.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
9844372-9862345 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9859569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 217
(V217A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062884
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057613]
|
AlphaFold |
P43028 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057613
AA Change: V217A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000062884 Gene: ENSMUSG00000051279 AA Change: V217A
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: 93.3%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 71.1%
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
A |
G |
1: 85,652,920 (GRCm39) |
F83L |
probably benign |
Het |
Acsm2 |
T |
A |
7: 119,177,408 (GRCm39) |
C308S |
possibly damaging |
Het |
Ak3 |
A |
G |
19: 29,025,157 (GRCm39) |
S25P |
probably damaging |
Het |
Atp13a2 |
T |
A |
4: 140,721,438 (GRCm39) |
V176E |
unknown |
Het |
Bmper |
A |
T |
9: 23,317,845 (GRCm39) |
H488L |
probably benign |
Het |
Cacna1c |
A |
T |
6: 118,572,933 (GRCm39) |
C2084S |
unknown |
Het |
Ccp110 |
T |
A |
7: 118,321,600 (GRCm39) |
N418K |
probably benign |
Het |
Ddx17 |
C |
A |
15: 79,428,014 (GRCm39) |
G32C |
probably damaging |
Het |
Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
Dusp16 |
G |
A |
6: 134,738,115 (GRCm39) |
|
probably benign |
Het |
Efl1 |
T |
G |
7: 82,307,373 (GRCm39) |
F90V |
probably benign |
Het |
Ell2 |
T |
A |
13: 75,910,011 (GRCm39) |
N252K |
probably damaging |
Het |
H1f4 |
A |
T |
13: 23,806,362 (GRCm39) |
V40E |
probably damaging |
Het |
Hint1 |
T |
A |
11: 54,760,896 (GRCm39) |
S112T |
unknown |
Het |
Kif5c |
T |
C |
2: 49,631,360 (GRCm39) |
V679A |
probably benign |
Het |
Lrrn3 |
A |
T |
12: 41,503,017 (GRCm39) |
D433E |
probably benign |
Het |
Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
Naa11 |
A |
G |
5: 97,539,485 (GRCm39) |
|
probably null |
Het |
Pcdh18 |
T |
A |
3: 49,709,518 (GRCm39) |
H599L |
probably benign |
Het |
Pgc |
A |
T |
17: 48,039,680 (GRCm39) |
K25* |
probably null |
Het |
Pramel58 |
T |
A |
5: 94,830,652 (GRCm39) |
V50E |
probably damaging |
Het |
Psd4 |
G |
A |
2: 24,284,306 (GRCm39) |
D57N |
probably benign |
Het |
Pxdn |
G |
A |
12: 30,055,828 (GRCm39) |
R1238Q |
probably benign |
Het |
Smim41 |
T |
C |
15: 101,191,152 (GRCm39) |
V6A |
probably benign |
Het |
Spata32 |
T |
C |
11: 103,100,653 (GRCm39) |
N38S |
probably benign |
Het |
Tpr |
A |
G |
1: 150,279,707 (GRCm39) |
T279A |
probably benign |
Het |
Unc13a |
C |
A |
8: 72,110,958 (GRCm39) |
E418* |
probably null |
Het |
Vmn2r97 |
C |
A |
17: 19,149,878 (GRCm39) |
T422K |
probably benign |
Het |
Zfp474 |
A |
T |
18: 52,771,791 (GRCm39) |
Q148L |
possibly damaging |
Het |
|
Other mutations in Gdf6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R4170:Gdf6
|
UTSW |
4 |
9,859,650 (GRCm39) |
missense |
probably benign |
|
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'- TTGATGTGTCCACACTCTCAG -3'
(R):5'- TCTGGTGAACACTACAAGCAGG -3'
Sequencing Primer
(F):5'- GATGTGTCCACACTCTCAGACAAAG -3'
(R):5'- AACACTACAAGCAGGGCGCGCTCCT -3'
|
Posted On |
2019-06-07 |