Incidental Mutation 'R2899:Gdf7'
ID |
261420 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gdf7
|
Ensembl Gene |
ENSMUSG00000037660 |
Gene Name |
growth differentiation factor 7 |
Synonyms |
BMP12 |
MMRRC Submission |
040487-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.793)
|
Stock # |
R2899 (G1)
|
Quality Score |
198 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
8347918-8351954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 8348470 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 276
(A276T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037313]
[ENSMUST00000220073]
|
AlphaFold |
P43029 |
Predicted Effect |
unknown
Transcript: ENSMUST00000037313
AA Change: A284T
|
SMART Domains |
Protein: ENSMUSP00000038301 Gene: ENSMUSG00000037660 AA Change: A284T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:TGFb_propeptide
|
49 |
275 |
2.3e-15 |
PFAM |
low complexity region
|
281 |
302 |
N/A |
INTRINSIC |
low complexity region
|
308 |
357 |
N/A |
INTRINSIC |
TGFB
|
360 |
461 |
1.14e-63 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217967
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220073
AA Change: A276T
|
Meta Mutation Damage Score |
0.2465 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
97% (30/31) |
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 may play a role in the differentiation of tendon cells and spinal cord interneurons. Mice lacking a functional copy of this gene exhibit absence of some spinal dopaminergic neurons and brain defects, male sterility, and premature death. [provided by RefSeq, Sep 2016] PHENOTYPE: Mice homozygous for a null allele lack D1A neurons in the dorsal spinal cord; some develop severe hydrocephaly with dilated ventricles and late-onset brain defects. Mice homozygous for another null allele show premature death, hydrocephaly, aberrant seminal vesicle development and male sterility. [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 |
1110002E22Rik |
A |
G |
3: 137,771,443 (GRCm39) |
K211E |
probably benign |
Het |
Amigo3 |
T |
C |
9: 107,931,353 (GRCm39) |
S259P |
probably benign |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Cd200r4 |
T |
C |
16: 44,653,728 (GRCm39) |
I175T |
probably damaging |
Het |
Cep131 |
T |
C |
11: 119,962,854 (GRCm39) |
D425G |
probably benign |
Het |
Clmp |
T |
C |
9: 40,693,688 (GRCm39) |
S302P |
probably damaging |
Het |
Dusp6 |
T |
C |
10: 99,099,707 (GRCm39) |
S52P |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,381,667 (GRCm39) |
I395F |
probably damaging |
Het |
F5 |
A |
G |
1: 164,014,469 (GRCm39) |
E580G |
possibly damaging |
Het |
Fbxo3 |
T |
A |
2: 103,881,480 (GRCm39) |
Y271N |
probably damaging |
Het |
Fuca1 |
G |
A |
4: 135,650,323 (GRCm39) |
W131* |
probably null |
Het |
Limk1 |
A |
T |
5: 134,717,154 (GRCm39) |
|
probably null |
Het |
Lrrc37a |
G |
A |
11: 103,388,690 (GRCm39) |
T2245I |
unknown |
Het |
Neb |
A |
G |
2: 52,075,335 (GRCm39) |
I210T |
probably benign |
Het |
Nf1 |
T |
G |
11: 79,303,584 (GRCm39) |
N420K |
possibly damaging |
Het |
Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
Pask |
G |
T |
1: 93,262,269 (GRCm39) |
T197K |
probably damaging |
Het |
Potefam1 |
C |
A |
2: 111,051,015 (GRCm39) |
|
probably benign |
Het |
Pou4f3 |
T |
C |
18: 42,528,588 (GRCm39) |
L177P |
probably benign |
Het |
Rassf1 |
G |
A |
9: 107,431,393 (GRCm39) |
G107R |
probably null |
Het |
Rdx |
T |
C |
9: 51,980,211 (GRCm39) |
|
probably benign |
Het |
Saraf |
T |
C |
8: 34,628,385 (GRCm39) |
L77P |
probably damaging |
Het |
Syngap1 |
A |
G |
17: 27,178,959 (GRCm39) |
E483G |
probably damaging |
Het |
Tsku |
T |
C |
7: 98,002,124 (GRCm39) |
N69S |
probably damaging |
Het |
Usp36 |
G |
A |
11: 118,167,582 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Zc3h6 |
T |
C |
2: 128,844,152 (GRCm39) |
V232A |
probably benign |
Het |
Zfp143 |
T |
A |
7: 109,671,336 (GRCm39) |
S99R |
probably damaging |
Het |
Zkscan3 |
A |
T |
13: 21,578,143 (GRCm39) |
L219Q |
probably damaging |
Het |
|
Other mutations in Gdf7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02796:Gdf7
|
UTSW |
12 |
8,351,666 (GRCm39) |
missense |
unknown |
|
R0781:Gdf7
|
UTSW |
12 |
8,351,555 (GRCm39) |
splice site |
probably benign |
|
R1457:Gdf7
|
UTSW |
12 |
8,348,073 (GRCm39) |
missense |
probably damaging |
0.97 |
R1556:Gdf7
|
UTSW |
12 |
8,351,698 (GRCm39) |
missense |
unknown |
|
R1643:Gdf7
|
UTSW |
12 |
8,347,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R2010:Gdf7
|
UTSW |
12 |
8,351,729 (GRCm39) |
missense |
unknown |
|
R2439:Gdf7
|
UTSW |
12 |
8,348,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R3894:Gdf7
|
UTSW |
12 |
8,348,845 (GRCm39) |
missense |
unknown |
|
R4854:Gdf7
|
UTSW |
12 |
8,348,014 (GRCm39) |
missense |
probably damaging |
0.99 |
R5207:Gdf7
|
UTSW |
12 |
8,348,371 (GRCm39) |
missense |
unknown |
|
R6199:Gdf7
|
UTSW |
12 |
8,348,832 (GRCm39) |
missense |
unknown |
|
R6583:Gdf7
|
UTSW |
12 |
8,351,758 (GRCm39) |
missense |
unknown |
|
R7687:Gdf7
|
UTSW |
12 |
8,348,257 (GRCm39) |
nonsense |
probably null |
|
R7745:Gdf7
|
UTSW |
12 |
8,351,854 (GRCm39) |
missense |
unknown |
|
R8705:Gdf7
|
UTSW |
12 |
8,348,167 (GRCm39) |
missense |
probably damaging |
0.96 |
R8845:Gdf7
|
UTSW |
12 |
8,348,905 (GRCm39) |
missense |
unknown |
|
R9100:Gdf7
|
UTSW |
12 |
8,348,652 (GRCm39) |
missense |
unknown |
|
Z1176:Gdf7
|
UTSW |
12 |
8,348,578 (GRCm39) |
missense |
unknown |
|
Z1176:Gdf7
|
UTSW |
12 |
8,348,409 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCCTTAAAGTCCACGTG -3'
(R):5'- TCCTGTTCGACGTATCCAGC -3'
Sequencing Primer
(F):5'- ACGTGCAGTGACTTGCGAC -3'
(R):5'- AAGCGTTCGACGTGACG -3'
|
Posted On |
2015-01-23 |