Incidental Mutation 'R0688:Gdf9'
| ID |
61246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdf9
|
| Ensembl Gene |
ENSMUSG00000018238 |
| Gene Name |
growth differentiation factor 9 |
| Synonyms |
Gdf-9 |
| MMRRC Submission |
038873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R0688 (G1)
|
| Quality Score |
91 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
53321850-53328731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53327467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 141
(L141Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018382]
|
| AlphaFold |
Q07105 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018382
AA Change: L141Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000018382
Gene: ENSMUSG00000018238
AA Change: L141Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
TGFB
|
340 |
441 |
3.16e-48 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156037
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.1%
|
| 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 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
T |
G |
9: 104,001,299 (GRCm39) |
V615G |
probably damaging |
Het |
| Apaf1 |
T |
G |
10: 90,897,567 (GRCm39) |
E305D |
possibly damaging |
Het |
| Apol10b |
A |
G |
15: 77,469,419 (GRCm39) |
S253P |
probably damaging |
Het |
| Bbs9 |
T |
A |
9: 22,479,015 (GRCm39) |
C153S |
probably damaging |
Het |
| Bicra |
C |
T |
7: 15,723,247 (GRCm39) |
G90D |
probably damaging |
Het |
| Clca4a |
A |
C |
3: 144,667,735 (GRCm39) |
L412R |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,249,281 (GRCm39) |
D597E |
possibly damaging |
Het |
| Cxcr5 |
A |
G |
9: 44,424,964 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Focad |
T |
A |
4: 88,192,450 (GRCm39) |
V593D |
unknown |
Het |
| Fsip2 |
T |
A |
2: 82,812,683 (GRCm39) |
S3001T |
probably benign |
Het |
| Ganab |
T |
A |
19: 8,888,477 (GRCm39) |
Y511N |
probably damaging |
Het |
| Gpr180 |
A |
G |
14: 118,385,596 (GRCm39) |
D136G |
probably benign |
Het |
| Hsd3b9 |
T |
C |
3: 98,363,710 (GRCm39) |
E45G |
probably benign |
Het |
| Itga2 |
G |
T |
13: 114,976,090 (GRCm39) |
A1094E |
probably benign |
Het |
| Ly75 |
C |
T |
2: 60,146,565 (GRCm39) |
A1238T |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,738 (GRCm39) |
V502A |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,478,527 (GRCm39) |
K923E |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,714,966 (GRCm39) |
D474G |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,481,522 (GRCm39) |
Y1077N |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,817,939 (GRCm39) |
S202R |
probably damaging |
Het |
| Or6c69 |
T |
G |
10: 129,747,752 (GRCm39) |
T132P |
probably damaging |
Het |
| Or6k14 |
A |
C |
1: 173,927,630 (GRCm39) |
H202P |
probably damaging |
Het |
| Or8u8 |
A |
T |
2: 86,011,949 (GRCm39) |
|
probably null |
Het |
| Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
| Phyhipl |
C |
T |
10: 70,395,085 (GRCm39) |
G329R |
probably damaging |
Het |
| Pomgnt1 |
T |
C |
4: 116,013,086 (GRCm39) |
Y430H |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,343,927 (GRCm39) |
F409S |
probably benign |
Het |
| Prkd3 |
A |
T |
17: 79,264,662 (GRCm39) |
M651K |
probably damaging |
Het |
| Puf60 |
A |
T |
15: 75,942,623 (GRCm39) |
M440K |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,594,009 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
A |
C |
10: 21,874,059 (GRCm39) |
M320L |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,702,627 (GRCm39) |
F509S |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,351,706 (GRCm39) |
T235A |
probably damaging |
Het |
| Srrm3 |
A |
G |
5: 135,898,130 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,063,528 (GRCm39) |
T986I |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,955,517 (GRCm39) |
M301V |
possibly 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 |
|
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 |
|
R6442:Gdf9
|
UTSW |
11 |
53,324,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCCTCCCAAGAACTGGCTTTCTGG -3'
(R):5'- TGACAGACAGGTGAATGCTCCTCTC -3'
Sequencing Primer
(F):5'- aaaacaagacctccctgcc -3'
(R):5'- GGGAGGTCACATCAATCTCAATC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation