Incidental Mutation 'R6583:Gdf7'
| ID |
524246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdf7
|
| Ensembl Gene |
ENSMUSG00000037660 |
| Gene Name |
growth differentiation factor 7 |
| Synonyms |
BMP12 |
| MMRRC Submission |
044707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
R6583 (G1)
|
| Quality Score |
106.008 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
8347918-8351954 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8351758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 59
(Q59L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037313]
[ENSMUST00000220073]
|
| AlphaFold |
P43029 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000037313
AA Change: Q59L
|
| SMART Domains |
Protein: ENSMUSP00000038301
Gene: ENSMUSG00000037660
AA Change: Q59L
| 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 |
unknown
Transcript: ENSMUST00000220073
AA Change: Q59L
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| 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 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
C |
3: 126,810,613 (GRCm39) |
I491S |
probably damaging |
Het |
| Armc12 |
A |
T |
17: 28,757,588 (GRCm39) |
Q240L |
probably null |
Het |
| Cntnap5c |
C |
T |
17: 58,637,272 (GRCm39) |
P1050S |
probably damaging |
Het |
| Col4a3 |
C |
A |
1: 82,619,197 (GRCm39) |
A42E |
unknown |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,436 (GRCm39) |
V28A |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,448,143 (GRCm39) |
S355P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,150,516 (GRCm39) |
V749A |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,792,688 (GRCm39) |
L606P |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,489,210 (GRCm39) |
S109P |
probably benign |
Het |
| M6pr |
T |
C |
6: 122,290,349 (GRCm39) |
V104A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,364,739 (GRCm39) |
|
probably null |
Het |
| Micu2 |
T |
C |
14: 58,181,127 (GRCm39) |
K169R |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,937 (GRCm39) |
D636G |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nfib |
T |
G |
4: 82,416,708 (GRCm39) |
D125A |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,332,117 (GRCm39) |
T393A |
probably benign |
Het |
| Or8b49 |
G |
A |
9: 38,506,260 (GRCm39) |
V248I |
possibly damaging |
Het |
| Paox |
T |
A |
7: 139,706,291 (GRCm39) |
N70K |
probably damaging |
Het |
| Pnma8b |
A |
G |
7: 16,679,844 (GRCm39) |
N276S |
probably damaging |
Het |
| Ralgds |
G |
A |
2: 28,423,656 (GRCm39) |
A32T |
probably damaging |
Het |
| Samd11 |
T |
A |
4: 156,332,591 (GRCm39) |
N446I |
possibly damaging |
Het |
| Soat1 |
T |
C |
1: 156,294,062 (GRCm39) |
|
probably null |
Het |
| Tmem87a |
A |
T |
2: 120,205,958 (GRCm39) |
V339E |
possibly damaging |
Het |
| Tmprss13 |
G |
T |
9: 45,256,603 (GRCm39) |
C516F |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,059,017 (GRCm39) |
T515A |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,351,752 (GRCm39) |
|
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zfp964 |
G |
T |
8: 70,115,633 (GRCm39) |
D78Y |
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 |
|
R2899:Gdf7
|
UTSW |
12 |
8,348,470 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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'- TGAAGCCGGTGATTGTGTCC -3'
(R):5'- CTATGTTCAAAAGGCGTCGGG -3'
Sequencing Primer
(F):5'- GACATCATGAAGTGGTGTG -3'
(R):5'- AAGGAGCCCATGGACCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation