Incidental Mutation 'R0890:Gdf10'
| ID |
83481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdf10
|
| Ensembl Gene |
ENSMUSG00000021943 |
| Gene Name |
growth differentiation factor 10 |
| Synonyms |
Bmp3b |
| MMRRC Submission |
039053-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0890 (G1)
|
| Quality Score |
173 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
33645544-33658471 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33654113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 207
(K207E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168727]
|
| AlphaFold |
P97737 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168727
AA Change: K207E
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128621
Gene: ENSMUSG00000021943
AA Change: K207E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
|
TGFB
|
374 |
476 |
1e-50 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| 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 has been shown to promote neural repair after stroke and may act as a tumor suppressor. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for disruption of this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,972,936 (GRCm39) |
S837P |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,051 (GRCm39) |
V240A |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,291,964 (GRCm39) |
T556A |
possibly damaging |
Het |
| Coa7 |
G |
A |
4: 108,195,583 (GRCm39) |
A171T |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,684 (GRCm39) |
S381R |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,251,856 (GRCm39) |
P335L |
probably benign |
Het |
| Dcxr |
T |
A |
11: 120,617,297 (GRCm39) |
N82I |
probably damaging |
Het |
| Dhdh |
T |
C |
7: 45,131,395 (GRCm39) |
D146G |
possibly damaging |
Het |
| Dhrs13 |
T |
A |
11: 77,925,176 (GRCm39) |
L99Q |
probably null |
Het |
| Dnai1 |
C |
T |
4: 41,604,253 (GRCm39) |
T220M |
possibly damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,602,329 (GRCm39) |
D606V |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,717,852 (GRCm39) |
C246G |
possibly damaging |
Het |
| Gucy2d |
T |
C |
7: 98,122,472 (GRCm39) |
V1046A |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,985 (GRCm39) |
Y257* |
probably null |
Het |
| Kifc5b |
C |
T |
17: 27,141,996 (GRCm39) |
T158M |
possibly damaging |
Het |
| Klra7 |
C |
T |
6: 130,195,916 (GRCm39) |
D251N |
probably benign |
Het |
| Mesp1 |
T |
C |
7: 79,442,683 (GRCm39) |
D198G |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,777 (GRCm39) |
C149* |
probably null |
Het |
| Nphp4 |
C |
A |
4: 152,582,677 (GRCm39) |
L169I |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,586 (GRCm39) |
T173S |
probably benign |
Het |
| Or52p2 |
C |
A |
7: 102,237,408 (GRCm39) |
E181* |
probably null |
Het |
| Or5h17 |
T |
A |
16: 58,820,150 (GRCm39) |
I34K |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,544 (GRCm39) |
H7L |
probably benign |
Het |
| Polr3b |
A |
C |
10: 84,550,200 (GRCm39) |
K970T |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,009,382 (GRCm39) |
D93G |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,312 (GRCm39) |
K1256E |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,079 (GRCm39) |
T1869A |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,656,669 (GRCm39) |
V232A |
possibly damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,044,945 (GRCm39) |
E578G |
probably damaging |
Het |
| Tmem168 |
A |
T |
6: 13,603,271 (GRCm39) |
S32T |
probably damaging |
Het |
| Vmn1r38 |
T |
G |
6: 66,753,514 (GRCm39) |
I201L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,132,888 (GRCm39) |
W130C |
probably damaging |
Het |
|
| Other mutations in Gdf10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02558:Gdf10
|
APN |
14 |
33,645,937 (GRCm39) |
missense |
probably benign |
|
|
IGL03203:Gdf10
|
APN |
14 |
33,656,430 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0178:Gdf10
|
UTSW |
14 |
33,646,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1218:Gdf10
|
UTSW |
14 |
33,654,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1219:Gdf10
|
UTSW |
14 |
33,654,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1221:Gdf10
|
UTSW |
14 |
33,654,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1670:Gdf10
|
UTSW |
14 |
33,654,000 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1956:Gdf10
|
UTSW |
14 |
33,654,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1957:Gdf10
|
UTSW |
14 |
33,654,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1958:Gdf10
|
UTSW |
14 |
33,654,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2154:Gdf10
|
UTSW |
14 |
33,656,346 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2260:Gdf10
|
UTSW |
14 |
33,654,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2971:Gdf10
|
UTSW |
14 |
33,646,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3896:Gdf10
|
UTSW |
14 |
33,656,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4027:Gdf10
|
UTSW |
14 |
33,654,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4393:Gdf10
|
UTSW |
14 |
33,654,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Gdf10
|
UTSW |
14 |
33,653,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5436:Gdf10
|
UTSW |
14 |
33,654,213 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5829:Gdf10
|
UTSW |
14 |
33,654,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6387:Gdf10
|
UTSW |
14 |
33,645,961 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8346:Gdf10
|
UTSW |
14 |
33,653,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8742:Gdf10
|
UTSW |
14 |
33,654,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9086:Gdf10
|
UTSW |
14 |
33,654,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Gdf10
|
UTSW |
14 |
33,654,522 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1088:Gdf10
|
UTSW |
14 |
33,654,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gdf10
|
UTSW |
14 |
33,654,489 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGCAAGCCCCGAGCTAAGAAC -3'
(R):5'- TCAAAGTCCAGCACCTGAGAGGAG -3'
Sequencing Primer
(F):5'- CGAGCTAAGAACGCATCCTG -3'
(R):5'- ACCAGAACTCGTGCTTGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation