Mutagenetix > Incidental Mutation

Incidental Mutation 'R1607:Gdf9'

176566

Institutional Source

Beutler Lab

Gene Symbol

Gdf9

Ensembl Gene

ENSMUSG00000018238

Gene Name

growth differentiation factor 9

Synonyms

Gdf-9

MMRRC Submission

039644-MU

Accession Numbers

Essential gene?

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

Stock #

R1607 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

53321850-53328731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53328338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 431 (E431D)

Ref Sequence

ENSEMBL: ENSMUSP00000018382 (fasta)

Gene Model

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

AlphaFold

Q07105

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018382
AA Change: E431D

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018382
Gene: ENSMUSG00000018238
AA Change: E431D

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: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,850,514 (GRCm39)	P789S	probably damaging	Het
Adam17	T	A	12: 21,384,139 (GRCm39)		probably null	Het
Afdn	C	T	17: 14,030,763 (GRCm39)	R224W	probably damaging	Het
Als2	A	G	1: 59,219,306 (GRCm39)	Y1215H	probably damaging	Het
Anks1b	A	T	10: 89,878,410 (GRCm39)	D73V	probably damaging	Het
Bpifb6	T	C	2: 153,748,781 (GRCm39)	F259S	probably damaging	Het
Cenpv	A	T	11: 62,416,002 (GRCm39)	M249K	probably benign	Het
Ces1d	C	T	8: 93,912,746 (GRCm39)	V231I	probably benign	Het
Clasp1	G	A	1: 118,432,689 (GRCm39)	V460I	probably damaging	Het
Cnot10	A	T	9: 114,458,163 (GRCm39)	Y114*	probably null	Het
Cpb1	G	T	3: 20,317,946 (GRCm39)	R193S	probably benign	Het
Ctc1	T	C	11: 68,926,976 (GRCm39)	S1207P	possibly damaging	Het
Cttnbp2	T	A	6: 18,435,432 (GRCm39)	K142M	probably damaging	Het
Dhrs7b	T	G	11: 60,742,717 (GRCm39)	D136E	probably benign	Het
Dnah7b	T	C	1: 46,329,806 (GRCm39)	S3217P	probably damaging	Het
Eif4g3	C	T	4: 137,853,874 (GRCm39)	S480L	probably benign	Het
Enah	A	T	1: 181,744,762 (GRCm39)		probably null	Het
Epx	T	C	11: 87,759,538 (GRCm39)	D517G	probably damaging	Het
Gabrg2	T	A	11: 41,867,490 (GRCm39)	D43V	probably damaging	Het
Ghr	T	C	15: 3,350,056 (GRCm39)	D374G	probably damaging	Het
Gin1	A	T	1: 97,713,875 (GRCm39)	I392F	probably damaging	Het
Greb1l	A	G	18: 10,529,703 (GRCm39)	E786G	possibly damaging	Het
Grk4	T	C	5: 34,888,882 (GRCm39)	V342A	probably benign	Het
Hhipl2	A	T	1: 183,204,432 (GRCm39)	Y135F	possibly damaging	Het
Insig1	C	T	5: 28,276,706 (GRCm39)	R91W	probably damaging	Het
Kcnf1	C	G	12: 17,225,733 (GRCm39)	D163H	probably benign	Het
Kif11	A	T	19: 37,375,648 (GRCm39)	K190*	probably null	Het
Ldb2	T	G	5: 44,630,814 (GRCm39)	E309A	probably damaging	Het
Lipo4	T	G	19: 33,490,073 (GRCm39)	D143A	probably damaging	Het
Map3k6	T	G	4: 132,979,784 (GRCm39)	I1261S	probably damaging	Het
Mtus1	C	T	8: 41,468,446 (GRCm39)	V27I	possibly damaging	Het
Ndufaf2	C	T	13: 108,228,107 (GRCm39)	V60I	probably benign	Het
Nup133	A	G	8: 124,675,774 (GRCm39)	F48L	probably benign	Het
Or1i2	G	T	10: 78,447,974 (GRCm39)	T167N	probably benign	Het
Or2w4	A	C	13: 21,795,934 (GRCm39)	F68L	probably benign	Het
Or5w11	T	A	2: 87,459,321 (GRCm39)	N171K	probably benign	Het
Pcdhb21	A	T	18: 37,648,532 (GRCm39)	N554Y	probably damaging	Het
Pcx	A	T	19: 4,653,187 (GRCm39)	D284V	possibly damaging	Het
Pcyt1a	T	C	16: 32,285,937 (GRCm39)	S203P	probably damaging	Het
Pdlim3	A	T	8: 46,349,896 (GRCm39)	I69F	probably damaging	Het
Pkp4	T	C	2: 59,152,898 (GRCm39)	V598A	probably benign	Het
Plbd1	T	C	6: 136,589,304 (GRCm39)	I509V	probably benign	Het
Polr3b	C	A	10: 84,488,647 (GRCm39)	T319N	probably benign	Het
Ptprj	T	C	2: 90,293,664 (GRCm39)	D380G	probably benign	Het
Ralgapa1	T	G	12: 55,788,321 (GRCm39)	R587S	probably damaging	Het
Scn5a	C	A	9: 119,315,158 (GRCm39)	R1850L	probably damaging	Het
Ssc5d	C	A	7: 4,947,042 (GRCm39)	T1132K	probably benign	Het
Stard7	T	A	2: 127,137,406 (GRCm39)	N285K	possibly damaging	Het
Tcp11l2	C	T	10: 84,449,351 (GRCm39)	R439W	probably damaging	Het
Tecrl	T	C	5: 83,428,355 (GRCm39)		probably null	Het
Tep1	A	T	14: 51,062,020 (GRCm39)	L2570Q	probably null	Het
Tex14	A	T	11: 87,445,754 (GRCm39)	D191V	probably damaging	Het
Tm7sf2	A	G	19: 6,113,049 (GRCm39)		probably null	Het
Tmem132e	A	G	11: 82,328,196 (GRCm39)	K408R	probably benign	Het
Tube1	A	G	10: 39,020,762 (GRCm39)	D216G	possibly damaging	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Vmn2r82	A	G	10: 79,215,253 (GRCm39)	H412R	possibly damaging	Het
Wtip	T	C	7: 33,816,020 (GRCm39)	E352G	probably damaging	Het
Xirp2	T	A	2: 67,340,639 (GRCm39)	L960*	probably null	Het
Zc3h11a	A	C	1: 133,552,425 (GRCm39)	S561A	probably benign	Het
Zfhx2	A	T	14: 55,300,442 (GRCm39)	D2436E	probably damaging	Het
Zfp763	T	C	17: 33,238,881 (GRCm39)	H88R	probably benign	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
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'- AGCTCAAATGGGACAACTGGATCG -3'
(R):5'- CTTTACACCTACGGACACTGCACTC -3'

Sequencing Primer
(F):5'- CTAGGTACTGTAAAGGGGACTGTC -3'
(R):5'- GGACACTGCACTCGATGTG -3'

Posted On

2014-04-24