Incidental Mutation 'R5829:Gdf10'
| ID |
450338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdf10
|
| Ensembl Gene |
ENSMUSG00000021943 |
| Gene Name |
growth differentiation factor 10 |
| Synonyms |
Bmp3b |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5829 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
33645544-33658471 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33654674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 394
(S394P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168727]
|
| AlphaFold |
P97737 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168727
AA Change: S394P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128621
Gene: ENSMUSG00000021943
AA Change: S394P
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Atp6v1e2 |
T |
C |
17: 87,252,144 (GRCm39) |
R85G |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,550,918 (GRCm39) |
H391R |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,647,899 (GRCm39) |
H69R |
probably damaging |
Het |
| Cimip2a |
G |
A |
2: 25,108,869 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
C |
T |
9: 79,540,955 (GRCm39) |
G2391R |
probably damaging |
Het |
| Dab2ip |
ATCCT |
ATCCTCCT |
2: 35,597,787 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
G |
A |
1: 77,421,631 (GRCm39) |
L284F |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,061,454 (GRCm39) |
S4346P |
probably damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,125,596 (GRCm39) |
|
probably null |
Het |
| Gcc1 |
C |
A |
6: 28,419,690 (GRCm39) |
|
probably benign |
Het |
| Gdf9 |
C |
T |
11: 53,324,516 (GRCm39) |
T95M |
probably benign |
Het |
| Gpr179 |
G |
A |
11: 97,226,524 (GRCm39) |
S1877L |
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,292,547 (GRCm39) |
V380A |
probably damaging |
Het |
| Il17c |
G |
A |
8: 123,148,970 (GRCm39) |
R38Q |
probably damaging |
Het |
| Il17rd |
G |
A |
14: 26,814,042 (GRCm39) |
|
probably null |
Het |
| Iqch |
C |
T |
9: 63,332,639 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
C |
T |
11: 103,432,712 (GRCm39) |
E1310K |
possibly damaging |
Het |
| Mpp4 |
A |
T |
1: 59,168,101 (GRCm39) |
S456R |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,865,404 (GRCm38) |
Y601H |
probably damaging |
Het |
| Nrxn2 |
C |
T |
19: 6,540,879 (GRCm39) |
P936L |
probably benign |
Het |
| Or8b44 |
T |
A |
9: 38,410,545 (GRCm39) |
Y193* |
probably null |
Het |
| Pcdhb9 |
T |
C |
18: 37,534,942 (GRCm39) |
V312A |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,060,139 (GRCm39) |
T211A |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
| Pla2g6 |
A |
G |
15: 79,171,893 (GRCm39) |
F710L |
possibly damaging |
Het |
| Repin1 |
A |
T |
6: 48,571,766 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
A |
T |
10: 39,682,902 (GRCm39) |
E340V |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,690,076 (GRCm39) |
S1158P |
probably damaging |
Het |
| S100a16 |
A |
T |
3: 90,449,454 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Scg2 |
A |
G |
1: 79,414,637 (GRCm39) |
S29P |
probably damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,095 (GRCm39) |
Y119C |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,986 (GRCm39) |
T916A |
probably benign |
Het |
| Smpd3 |
A |
G |
8: 106,991,512 (GRCm39) |
V347A |
probably benign |
Het |
| Tmem212 |
C |
A |
3: 27,939,081 (GRCm39) |
C135F |
possibly damaging |
Het |
| Unc13c |
T |
A |
9: 73,600,650 (GRCm39) |
N1365Y |
probably benign |
Het |
| Usp13 |
G |
T |
3: 32,940,672 (GRCm39) |
G395C |
possibly damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,812 (GRCm39) |
N34S |
probably benign |
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 |
|
R0890:Gdf10
|
UTSW |
14 |
33,654,113 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
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 |
|
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'- ACAAGCACGAGTTCTGGTCC -3'
(R):5'- GCAGACAGGAGATGCATCATC -3'
Sequencing Primer
(F):5'- TTTCCGGGCACTGAAACC -3'
(R):5'- ATGGGACAAGATCCGAAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation