Incidental Mutation 'R2971:Gdf10'
ID |
265688 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gdf10
|
Ensembl Gene |
ENSMUSG00000021943 |
Gene Name |
growth differentiation factor 10 |
Synonyms |
Bmp3b |
MMRRC Submission |
040525-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2971 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
33645544-33658471 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33646148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 99
(R99H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128621
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168727]
|
AlphaFold |
P97737 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168727
AA Change: R99H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128621 Gene: ENSMUSG00000021943 AA Change: R99H
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,749,447 (GRCm39) |
D1406G |
possibly damaging |
Het |
Aebp2 |
T |
C |
6: 140,579,624 (GRCm39) |
|
probably null |
Het |
Ap5m1 |
T |
A |
14: 49,321,339 (GRCm39) |
Y49* |
probably null |
Het |
Atp8b5 |
T |
C |
4: 43,361,953 (GRCm39) |
|
probably benign |
Het |
Baz1a |
A |
G |
12: 54,970,224 (GRCm39) |
S518P |
probably damaging |
Het |
Ces1c |
T |
A |
8: 93,830,821 (GRCm39) |
D445V |
probably benign |
Het |
Ctnnbl1 |
C |
T |
2: 157,713,106 (GRCm39) |
H464Y |
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,420,018 (GRCm39) |
K238E |
probably benign |
Het |
Gm4779 |
G |
A |
X: 100,836,568 (GRCm39) |
P116L |
possibly damaging |
Het |
Gucy2g |
A |
G |
19: 55,198,708 (GRCm39) |
S812P |
probably damaging |
Het |
Ifit3b |
C |
T |
19: 34,589,417 (GRCm39) |
Q198* |
probably null |
Het |
Irgm1 |
A |
T |
11: 48,757,417 (GRCm39) |
Y131* |
probably null |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,474,175 (GRCm39) |
N1630S |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Nme6 |
A |
G |
9: 109,671,159 (GRCm39) |
|
probably benign |
Het |
Or11g25 |
T |
A |
14: 50,723,065 (GRCm39) |
I50N |
probably damaging |
Het |
Or5al6 |
T |
C |
2: 85,976,908 (GRCm39) |
T57A |
probably damaging |
Het |
Plch2 |
T |
G |
4: 155,075,224 (GRCm39) |
M797L |
probably benign |
Het |
Plscr2 |
G |
T |
9: 92,172,724 (GRCm39) |
E128* |
probably null |
Het |
Plxna2 |
T |
A |
1: 194,480,039 (GRCm39) |
D1403E |
probably damaging |
Het |
Pou6f2 |
T |
C |
13: 18,556,552 (GRCm39) |
T25A |
unknown |
Het |
Psmb11 |
T |
C |
14: 54,862,800 (GRCm39) |
V6A |
possibly damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptprd |
T |
G |
4: 76,025,561 (GRCm39) |
S546R |
probably benign |
Het |
Rbp3 |
A |
G |
14: 33,676,411 (GRCm39) |
N120D |
probably benign |
Het |
Skint1 |
C |
A |
4: 111,878,527 (GRCm39) |
P153H |
possibly damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Tmem201 |
A |
G |
4: 149,806,902 (GRCm39) |
|
probably benign |
Het |
Ube2v1 |
T |
C |
2: 167,452,256 (GRCm39) |
N89D |
probably damaging |
Het |
Zfp282 |
A |
T |
6: 47,874,866 (GRCm39) |
|
probably null |
Het |
Zfp560 |
C |
A |
9: 20,260,240 (GRCm39) |
M207I |
probably benign |
Het |
Zfp697 |
T |
C |
3: 98,335,617 (GRCm39) |
Y461H |
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 |
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 |
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'- ACCACCGTTACTCAGCCATG -3'
(R):5'- CTTGTCCCAACTGCAAGCTCTG -3'
Sequencing Primer
(F):5'- GTCCTGCTCGGATCAGCTTG -3'
(R):5'- AAGCTCTGGCCTGGTTCAG -3'
|
Posted On |
2015-02-05 |