Mutagenetix > Incidental Mutation

Incidental Mutation 'R5360:Gdf9'

424298

Institutional Source

Beutler Lab

Gene Symbol

Gdf9

Ensembl Gene

ENSMUSG00000018238

Gene Name

growth differentiation factor 9

Synonyms

Gdf-9

MMRRC Submission

042939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R5360 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53321850-53328731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53328034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 330 (F330Y)

Ref Sequence

ENSEMBL: ENSMUSP00000018382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018382]

AlphaFold

Q07105

Predicted Effect

probably benign
Transcript: ENSMUST00000018382
AA Change: F330Y

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000018382
Gene: ENSMUSG00000018238
AA Change: F330Y

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	A	19: 55,279,592 (GRCm39)	Y443*	probably null	Het
Aox3	C	T	1: 58,185,667 (GRCm39)	T331M	probably damaging	Het
Arhgap32	G	A	9: 32,170,967 (GRCm39)	R1598H	probably damaging	Het
Atp1a2	A	G	1: 172,106,436 (GRCm39)		probably null	Het
Brpf3	A	T	17: 29,029,536 (GRCm39)	M499L	probably benign	Het
Cacnb1	A	T	11: 97,909,097 (GRCm39)		probably null	Het
Cep295	A	G	9: 15,238,029 (GRCm39)	S1899P	probably damaging	Het
Cntn2	A	G	1: 132,446,595 (GRCm39)	Y748H	probably damaging	Het
Csmd3	T	A	15: 47,532,599 (GRCm39)	Y2532F	probably damaging	Het
Cstdc1	G	T	2: 148,625,298 (GRCm39)	L77F	probably damaging	Het
Dsg1a	A	G	18: 20,474,011 (GRCm39)	D1028G	probably damaging	Het
Eif1ad16	A	C	12: 87,985,265 (GRCm39)	L93V	probably benign	Het
Elp1	A	T	4: 56,800,104 (GRCm39)	H7Q	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gabra5	C	T	7: 57,140,533 (GRCm39)	G55R	probably damaging	Het
Gimap8	T	C	6: 48,633,236 (GRCm39)	S352P	probably damaging	Het
Gm4952	A	T	19: 12,600,993 (GRCm39)	H71L	probably benign	Het
Gnaq	G	A	19: 16,110,790 (GRCm39)	R34H	probably benign	Het
Hebp2	T	C	10: 18,420,055 (GRCm39)	D126G	probably benign	Het
Hectd4	A	G	5: 121,453,464 (GRCm39)	D601G	possibly damaging	Het
Hook2	T	C	8: 85,728,033 (GRCm39)	Y577H	probably damaging	Het
Igfals	A	G	17: 25,099,067 (GRCm39)	T53A	probably benign	Het
Igsf9b	A	G	9: 27,222,968 (GRCm39)	D123G	probably damaging	Het
Ilrun	A	T	17: 28,013,020 (GRCm39)	I59N	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mdm4	A	T	1: 132,919,396 (GRCm39)	*490K	probably null	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Neurl2	C	A	2: 164,675,021 (GRCm39)	A114S	probably damaging	Het
Nuggc	A	G	14: 65,876,075 (GRCm39)	T563A	probably damaging	Het
Or8g32	T	G	9: 39,305,698 (GRCm39)	F204V	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pdlim1	A	T	19: 40,218,993 (GRCm39)	S213T	probably damaging	Het
Pitx1	T	C	13: 55,976,291 (GRCm39)	I123V	probably damaging	Het
Pkd1l1	T	C	11: 8,829,204 (GRCm39)	N1013D	probably benign	Het
Pla2g2c	T	A	4: 138,461,656 (GRCm39)	Y42N	possibly damaging	Het
Polr2b	G	A	5: 77,496,993 (GRCm39)	A1168T	possibly damaging	Het
Ppp2r2a	G	A	14: 67,254,020 (GRCm39)	R383*	probably null	Het
Prl7a2	C	T	13: 27,843,143 (GRCm39)	R220H	probably benign	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rc3h2	A	G	2: 37,279,867 (GRCm39)	V454A	possibly damaging	Het
Robo1	A	G	16: 72,732,665 (GRCm39)	T307A	probably damaging	Het
Slc22a6	T	C	19: 8,596,786 (GRCm39)	L188P	probably damaging	Het
Spag17	A	G	3: 100,016,726 (GRCm39)	N2167S	probably benign	Het
Spag5	G	A	11: 78,205,588 (GRCm39)	E680K	probably damaging	Het
Spata6	A	G	4: 111,680,026 (GRCm39)	Y428C	possibly damaging	Het
Tbc1d5	T	C	17: 51,291,660 (GRCm39)	D47G	probably benign	Het
Trp53	T	C	11: 69,479,566 (GRCm39)		probably null	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,654,707 (GRCm39)		probably benign	Het
Ttc39b	T	C	4: 83,180,084 (GRCm39)	D103G	probably damaging	Het
Ttn	A	C	2: 76,750,322 (GRCm39)	W3576G	probably benign	Het
Yeats2	T	A	16: 19,972,912 (GRCm39)	M22K	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
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'- TGGCAGTCTCTTCAGTCCAC -3'
(R):5'- CTGAAGGGTCCAGCTTCTCATAG -3'

Sequencing Primer
(F):5'- ACCTGGAGGCCTTTACAGCATC -3'
(R):5'- ATATTCTGGACCATGGTGTGCAC -3'

Posted On

2016-08-04