Mutagenetix > Incidental Mutation

Incidental Mutation 'R1651:Gdf9'

186399

Institutional Source

Beutler Lab

Gene Symbol

Gdf9

Ensembl Gene

ENSMUSG00000018238

Gene Name

growth differentiation factor 9

Synonyms

Gdf-9

MMRRC Submission

039687-MU

Accession Numbers

Essential gene?

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

Stock #

R1651 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53321850-53328731 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53324576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 115 (R115Q)

Ref Sequence

ENSEMBL: ENSMUSP00000018382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018382] [ENSMUST00000061326] [ENSMUST00000109019] [ENSMUST00000109021]

AlphaFold

Q07105

Predicted Effect

probably damaging
Transcript: ENSMUST00000018382
AA Change: R115Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018382
Gene: ENSMUSG00000018238
AA Change: R115Q

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

0.4527

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (66/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	A	2: 150,690,341 (GRCm39)	Q118L	probably benign	Het
Acss1	A	T	2: 150,480,357 (GRCm39)	V238D	possibly damaging	Het
Adgrv1	T	C	13: 81,635,972 (GRCm39)	I3512M	probably benign	Het
Arhgap32	A	G	9: 32,171,096 (GRCm39)	Q1292R	probably damaging	Het
Bpnt2	A	G	4: 4,792,737 (GRCm39)	F123L	probably damaging	Het
Caskin1	C	T	17: 24,721,186 (GRCm39)	R509C	possibly damaging	Het
Cd47	T	C	16: 49,714,591 (GRCm39)	V147A	possibly damaging	Het
Cdc20b	T	A	13: 113,215,258 (GRCm39)	Y275*	probably null	Het
Chd4	A	G	6: 125,100,547 (GRCm39)	D1745G	possibly damaging	Het
Crmp1	T	A	5: 37,430,783 (GRCm39)	S250T	probably damaging	Het
Crybg2	A	G	4: 133,802,214 (GRCm39)	K1125E	probably benign	Het
Crybg2	C	A	4: 133,802,136 (GRCm39)	P1099T	possibly damaging	Het
Csf1r	T	A	18: 61,243,473 (GRCm39)	I163N	possibly damaging	Het
Dicer1	T	C	12: 104,675,064 (GRCm39)	T733A	probably damaging	Het
Edar	A	G	10: 58,441,875 (GRCm39)	V339A	possibly damaging	Het
Efcab3	A	G	11: 104,611,492 (GRCm39)	R445G	probably benign	Het
Efcab6	A	G	15: 83,755,194 (GRCm39)	I1374T	possibly damaging	Het
Erbb2	G	A	11: 98,324,283 (GRCm39)	R757K	probably damaging	Het
Fam98a	A	G	17: 75,854,710 (GRCm39)	V33A	probably benign	Het
Farp2	T	C	1: 93,531,191 (GRCm39)		probably null	Het
Fcmr	A	G	1: 130,805,988 (GRCm39)	T315A	probably benign	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,434,948 (GRCm39)		probably benign	Het
H2-M10.1	A	G	17: 36,636,648 (GRCm39)	V52A	probably damaging	Het
Hspg2	T	A	4: 137,260,748 (GRCm39)	C1582*	probably null	Het
Icam2	C	T	11: 106,268,782 (GRCm39)	V229M	probably damaging	Het
Itga7	C	T	10: 128,784,693 (GRCm39)	P735L	probably benign	Het
Kbtbd3	C	A	9: 4,330,589 (GRCm39)	P321Q	possibly damaging	Het
Kcnma1	T	A	14: 23,364,262 (GRCm39)	T997S	probably damaging	Het
Kifc5b	T	C	17: 27,144,504 (GRCm39)	F541S	probably damaging	Het
Klhdc9	C	A	1: 171,188,016 (GRCm39)	V72L	probably benign	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lrrtm4	A	G	6: 79,999,511 (GRCm39)	T308A	probably benign	Het
Map1b	T	C	13: 99,569,091 (GRCm39)	E1210G	unknown	Het
Mocs3	A	G	2: 168,073,489 (GRCm39)	Y312C	probably damaging	Het
Mrps7	G	T	11: 115,495,581 (GRCm39)	E40*	probably null	Het
Msantd5f1	A	T	4: 73,605,621 (GRCm39)	N344I	possibly damaging	Het
Msln	T	C	17: 25,972,382 (GRCm39)	H50R	probably benign	Het
Myb	A	G	10: 21,002,097 (GRCm39)	F748S	probably damaging	Het
Myo10	C	A	15: 25,742,455 (GRCm39)	H590N	probably damaging	Het
Naip5	T	C	13: 100,358,419 (GRCm39)	E939G	probably benign	Het
Nbeal1	T	A	1: 60,239,278 (GRCm39)	V107E	probably damaging	Het
Nrcam	A	T	12: 44,623,462 (GRCm39)	N1011I	probably damaging	Het
Or14c44	A	G	7: 86,057,078 (GRCm39)		probably benign	Het
Or1ak2	T	C	2: 36,827,335 (GRCm39)	L68P	probably damaging	Het
Or4c118	A	C	2: 88,975,346 (GRCm39)	V7G	probably damaging	Het
Pcgf6	A	T	19: 47,037,441 (GRCm39)	C153S	probably damaging	Het
Phrf1	T	C	7: 140,817,434 (GRCm39)	V81A	probably benign	Het
Ppp4r4	A	G	12: 103,550,331 (GRCm39)	N36D	probably benign	Het
Prkch	A	G	12: 73,805,775 (GRCm39)	T517A	possibly damaging	Het
Rasal1	A	T	5: 120,790,910 (GRCm39)	K33*	probably null	Het
Rp1l1	G	A	14: 64,268,442 (GRCm39)	E1343K	probably damaging	Het
Serpinb6e	T	C	13: 34,020,406 (GRCm39)	D234G	probably benign	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Smyd3	T	G	1: 178,871,441 (GRCm39)	I313L	probably benign	Het
Tdrd9	C	A	12: 111,991,140 (GRCm39)	D543E	probably damaging	Het
Tet1	A	G	10: 62,715,453 (GRCm39)	L114P	probably damaging	Het
Tmprss11c	G	A	5: 86,387,283 (GRCm39)	P212S	probably damaging	Het
Tmx2	A	T	2: 84,506,461 (GRCm39)	M77K	probably damaging	Het
Traf3	T	G	12: 111,228,470 (GRCm39)	D560E	probably damaging	Het
Trappc12	C	T	12: 28,741,776 (GRCm39)	M711I	probably benign	Het
Trim2	A	G	3: 84,074,957 (GRCm39)		probably null	Het
Vmn2r18	A	G	5: 151,485,464 (GRCm39)	S677P	probably damaging	Het
Wdr7	T	A	18: 63,853,847 (GRCm39)	L60*	probably null	Het
Wdr93	T	C	7: 79,399,830 (GRCm39)	F140L	probably benign	Het
Zfp638	A	G	6: 83,931,719 (GRCm39)	T802A	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
R1607:Gdf9	UTSW	11	53,328,338 (GRCm39)	missense	possibly damaging	0.79
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'- ATGGCACTTCCCAGCAACTTCCTG -3'
(R):5'- GGACCCAAATCAAAGTGTGGCTCC -3'

Sequencing Primer
(F):5'- GCTTCTACTGAAGAATCCCAGAGTG -3'
(R):5'- CAAATCAAAGTGTGGCTCCTTCTG -3'

Posted On

2014-05-09