Incidental Mutation 'R6442:Gdf9'
| ID |
519065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdf9
|
| Ensembl Gene |
ENSMUSG00000018238 |
| Gene Name |
growth differentiation factor 9 |
| Synonyms |
Gdf-9 |
| MMRRC Submission |
044580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R6442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
53321850-53328731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53324515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 95
(T95A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018382]
[ENSMUST00000061326]
[ENSMUST00000109019]
[ENSMUST00000109021]
|
| AlphaFold |
Q07105 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018382
AA Change: T95A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000018382
Gene: ENSMUSG00000018238
AA Change: T95A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
TGFB
|
340 |
441 |
3.16e-48 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061326
|
| SMART Domains |
Protein: ENSMUSP00000053145
Gene: ENSMUSG00000044894
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UcrQ
|
2 |
81 |
3.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109019
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109021
|
| SMART Domains |
Protein: ENSMUSP00000104649
Gene: ENSMUSG00000044894
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UcrQ
|
2 |
81 |
3.7e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156503
|
| Meta Mutation Damage Score |
0.0755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (36/36) |
| 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 regulates ovarian function. Female mice that are homozygous null for this gene are sterile with impaired folliculogenesis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Females homozygous for a targeted null mutation are sterile with a block in folliculogenesis. Mutant oocytes exhibit perinuclear organelle aggregation, unusual Golgi complexes, absence of cortical granules, and impaired granulosa cell connections. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp9a |
T |
C |
2: 168,491,481 (GRCm39) |
T695A |
probably benign |
Het |
| Btla |
A |
G |
16: 45,044,821 (GRCm39) |
N36D |
probably benign |
Het |
| Btla |
T |
C |
16: 45,070,713 (GRCm39) |
V224A |
possibly damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,564 (GRCm39) |
N657D |
probably benign |
Het |
| Cops3 |
T |
A |
11: 59,718,780 (GRCm39) |
K171N |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,112,775 (GRCm39) |
R193G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,214,837 (GRCm39) |
I911V |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,923,507 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
T |
11: 76,996,260 (GRCm39) |
Y1100* |
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,843,611 (GRCm39) |
T833I |
possibly damaging |
Het |
| Galnt10 |
A |
G |
11: 57,656,448 (GRCm39) |
T211A |
probably benign |
Het |
| Gm826 |
T |
A |
2: 160,169,328 (GRCm39) |
|
probably benign |
Het |
| Hsd17b6 |
C |
T |
10: 127,829,636 (GRCm39) |
|
probably null |
Het |
| Hyal4 |
A |
G |
6: 24,765,849 (GRCm39) |
N401S |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,234,954 (GRCm39) |
V435I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,848,427 (GRCm39) |
P418L |
probably damaging |
Het |
| Or3a4 |
G |
A |
11: 73,945,505 (GRCm39) |
R27W |
probably benign |
Het |
| Or4f15 |
G |
A |
2: 111,813,874 (GRCm39) |
P182S |
probably damaging |
Het |
| Or4n4 |
T |
G |
14: 50,518,826 (GRCm39) |
K295Q |
probably damaging |
Het |
| Or6c214 |
C |
A |
10: 129,591,277 (GRCm39) |
G14V |
probably damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,992 (GRCm39) |
|
probably benign |
Het |
| Prdm11 |
G |
A |
2: 92,805,990 (GRCm39) |
A320V |
probably benign |
Het |
| Ptpn5 |
T |
C |
7: 46,732,831 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
A |
5: 22,137,774 (GRCm39) |
I2473L |
probably benign |
Het |
| Rmnd5a |
A |
T |
6: 71,371,659 (GRCm39) |
C180* |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sapcd2 |
T |
A |
2: 25,266,134 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
A |
G |
3: 129,790,350 (GRCm39) |
L462S |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,686,555 (GRCm39) |
Y425F |
possibly damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,682,912 (GRCm39) |
D11G |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,604,760 (GRCm39) |
Y727* |
probably null |
Het |
| Tmem80 |
T |
C |
7: 140,915,839 (GRCm39) |
V83A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,551,978 (GRCm39) |
T31220A |
probably benign |
Het |
| Usp46 |
A |
T |
5: 74,177,377 (GRCm39) |
D167E |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,805,046 (GRCm39) |
D22V |
possibly damaging |
Het |
| Zswim5 |
C |
A |
4: 116,808,202 (GRCm39) |
P262Q |
probably damaging |
Het |
|
| Other mutations in Gdf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02148:Gdf9
|
APN |
11 |
53,327,569 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0688:Gdf9
|
UTSW |
11 |
53,327,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Gdf9
|
UTSW |
11 |
53,328,338 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1651:Gdf9
|
UTSW |
11 |
53,324,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1902:Gdf9
|
UTSW |
11 |
53,327,780 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2128:Gdf9
|
UTSW |
11 |
53,328,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5360:Gdf9
|
UTSW |
11 |
53,328,034 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5391:Gdf9
|
UTSW |
11 |
53,324,624 (GRCm39) |
missense |
probably benign |
|
|
R5395:Gdf9
|
UTSW |
11 |
53,324,624 (GRCm39) |
missense |
probably benign |
|
|
R5470:Gdf9
|
UTSW |
11 |
53,327,581 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5593:Gdf9
|
UTSW |
11 |
53,324,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5809:Gdf9
|
UTSW |
11 |
53,324,381 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5829:Gdf9
|
UTSW |
11 |
53,324,516 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6394:Gdf9
|
UTSW |
11 |
53,327,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6894:Gdf9
|
UTSW |
11 |
53,327,646 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7171:Gdf9
|
UTSW |
11 |
53,328,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Gdf9
|
UTSW |
11 |
53,327,925 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8552:Gdf9
|
UTSW |
11 |
53,324,378 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9061:Gdf9
|
UTSW |
11 |
53,324,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Gdf9
|
UTSW |
11 |
53,327,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Gdf9
|
UTSW |
11 |
53,327,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gdf9
|
UTSW |
11 |
53,328,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAGAATCCCAGAGTGGAGC -3'
(R):5'- CAAATCAAAGTGTGGCTCCTTC -3'
Sequencing Primer
(F):5'- ATCCCAGAGTGGAGCCAGTG -3'
(R):5'- CAAAGTGTGGCTCCTTCTGGTAAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation