Mutagenetix > Incidental Mutation

Incidental Mutation 'R5762:Ggn'

446052

Institutional Source

Beutler Lab

Gene Symbol

Ggn

Ensembl Gene

ENSMUSG00000031493

Gene Name

gametogenetin

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5762 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28869635-28873363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28871777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 399 (P399S)

Ref Sequence

ENSEMBL: ENSMUSP00000146620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033886] [ENSMUST00000048923] [ENSMUST00000059642] [ENSMUST00000098609] [ENSMUST00000182328] [ENSMUST00000186182] [ENSMUST00000208330] [ENSMUST00000209019] [ENSMUST00000208288] [ENSMUST00000209034]

AlphaFold

Q80WJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000033886

SMART Domains

Protein: ENSMUSP00000033886
Gene: ENSMUSG00000031493

Domain	Start	End	E-Value	Type
low complexity region	42	61	N/A	INTRINSIC
low complexity region	84	94	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048923

SMART Domains

Protein: ENSMUSP00000046216
Gene: ENSMUSG00000037239

Domain	Start	End	E-Value	Type
Pfam:WH1	1	110	1.6e-13	PFAM
low complexity region	120	130	N/A	INTRINSIC
low complexity region	142	153	N/A	INTRINSIC
Pfam:Sprouty	292	400	7.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059642

SMART Domains

Protein: ENSMUSP00000051657
Gene: ENSMUSG00000030591

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
low complexity region	60	82	N/A	INTRINSIC
low complexity region	117	129	N/A	INTRINSIC
Pfam:CSN8_PSD8_EIF3K	189	330	1.2e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098609
AA Change: P422S

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

SMART Domains

Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493
AA Change: P422S

Domain	Start	End	E-Value	Type
Pfam:GGN	38	342	2.1e-158	PFAM
Pfam:GGN	340	709	1.5e-165	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130390

Predicted Effect

probably benign
Transcript: ENSMUST00000182328

SMART Domains

Protein: ENSMUSP00000138613
Gene: ENSMUSG00000030591

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:SAC3_GANP	49	232	1.2e-37	PFAM
Pfam:PCI_Csn8	125	266	4.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186182

SMART Domains

Protein: ENSMUSP00000139514
Gene: ENSMUSG00000030591

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
low complexity region	60	82	N/A	INTRINSIC
Pfam:SAC3_GANP	113	296	1.3e-37	PFAM
Pfam:PCI_Csn8	189	330	2.3e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000208330
AA Change: P399S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209019
AA Change: P386S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000208288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208592

Predicted Effect

probably benign
Transcript: ENSMUST00000209034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208659

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a, gametogenetin protein 2, and gametogenetin protein 3, which show a perinuclear, cytoplasmic, and nucleolar localization, respectively. These proteins regulate the localization of POG and may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for this allele exhibit impaired double-strand break repair in spermatocytes. [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
Aasdh	A	T	5: 77,044,445 (GRCm39)	D148E	probably benign	Het
Abca13	A	G	11: 9,531,665 (GRCm39)	I4631V	probably damaging	Het
Adamts16	A	T	13: 70,886,617 (GRCm39)	W1058R	probably damaging	Het
Adgrf5	A	G	17: 43,741,586 (GRCm39)	I163V	probably null	Het
Ano1	T	A	7: 144,201,774 (GRCm39)	Y338F	probably damaging	Het
Atp4a	A	G	7: 30,418,521 (GRCm39)	D603G	probably damaging	Het
Bmp2k	GGCCCGC	GGC	5: 97,235,050 (GRCm39)		probably null	Het
Brinp2	T	C	1: 158,074,156 (GRCm39)	D655G	probably benign	Het
C3ar1	A	G	6: 122,827,321 (GRCm39)	S299P	probably benign	Het
Calhm1	T	A	19: 47,132,058 (GRCm39)		probably null	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Cd27	A	G	6: 125,213,561 (GRCm39)	F48S	probably damaging	Het
Cfap52	A	G	11: 67,844,947 (GRCm39)	Y41H	possibly damaging	Het
Cntn5	A	G	9: 9,748,394 (GRCm39)	S701P	possibly damaging	Het
Ctbp2	G	T	7: 132,597,088 (GRCm39)	A665D	probably damaging	Het
Ctsd	C	A	7: 141,937,266 (GRCm39)	G81C	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dpysl4	C	T	7: 138,671,853 (GRCm39)	A67V	probably benign	Het
Dst	C	T	1: 34,218,438 (GRCm39)	T1626I	probably damaging	Het
Etfdh	A	C	3: 79,523,261 (GRCm39)	D217E	probably null	Het
Far1	T	A	7: 113,167,396 (GRCm39)	Y494N	probably damaging	Het
Fndc1	G	A	17: 7,990,366 (GRCm39)	T1110M	unknown	Het
Frmd4a	G	T	2: 4,488,876 (GRCm39)	D78Y	probably damaging	Het
Fsip2	G	A	2: 82,808,260 (GRCm39)	M1526I	probably benign	Het
H2ac6	C	T	13: 23,867,888 (GRCm39)	G5S	probably damaging	Het
Hap1	A	G	11: 100,246,600 (GRCm39)	W102R	probably damaging	Het
Herc2	T	A	7: 55,846,938 (GRCm39)	S3629R	possibly damaging	Het
Hyal4	A	C	6: 24,765,861 (GRCm39)	Y405S	possibly damaging	Het
Ifi204	G	A	1: 173,580,325 (GRCm39)	T395I	probably damaging	Het
Igsf9	A	G	1: 172,326,005 (GRCm39)	E1147G	probably damaging	Het
Inpp5a	T	A	7: 139,118,097 (GRCm39)	I225N	possibly damaging	Het
Kcnv1	T	C	15: 44,972,518 (GRCm39)	K455R	probably damaging	Het
Kmt2c	T	C	5: 25,515,455 (GRCm39)	D2796G	probably benign	Het
Ngp	A	T	9: 110,251,401 (GRCm39)	D143V	probably benign	Het
Nlrp5	T	C	7: 23,118,264 (GRCm39)	C663R	possibly damaging	Het
Nup205	G	T	6: 35,204,615 (GRCm39)	R1469L	probably damaging	Het
Nup205	T	A	6: 35,207,483 (GRCm39)	F1512I	probably damaging	Het
Nwd1	T	C	8: 73,397,542 (GRCm39)	S594P	probably damaging	Het
Nxpe2	A	C	9: 48,230,875 (GRCm39)	V498G	probably benign	Het
P3h4	G	A	11: 100,302,677 (GRCm39)	R320C	probably damaging	Het
Plec	A	G	15: 76,063,455 (GRCm39)	L2273P	probably damaging	Het
Ppp1r14b	C	T	19: 6,953,951 (GRCm39)	L100F	probably damaging	Het
Prlhr	C	T	19: 60,455,506 (GRCm39)	W353*	probably null	Het
Ralgps2	C	T	1: 156,660,234 (GRCm39)		probably null	Het
Rrp12	C	T	19: 41,868,591 (GRCm39)	G584D	possibly damaging	Het
Scamp3	T	C	3: 89,088,504 (GRCm39)	F237L	probably damaging	Het
Scn10a	A	G	9: 119,464,507 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shroom1	A	T	11: 53,354,818 (GRCm39)	D246V	probably benign	Het
Snapc4	T	A	2: 26,268,618 (GRCm39)	E14D	probably damaging	Het
Spag5	A	T	11: 78,194,972 (GRCm39)	Q93L	probably benign	Het
Tcstv5	T	A	13: 120,411,501 (GRCm39)	Q35L	probably benign	Het
Tle1	C	T	4: 72,038,372 (GRCm39)		probably null	Het
Ttll10	G	A	4: 156,119,438 (GRCm39)	P683S	possibly damaging	Het
Unc13c	A	C	9: 73,719,649 (GRCm39)	D1006E	probably benign	Het
Unc80	A	T	1: 66,732,955 (GRCm39)	K3101N	possibly damaging	Het
Vdac1	A	G	11: 52,278,280 (GRCm39)	Y247C	possibly damaging	Het
Vmn2r1	G	A	3: 63,997,474 (GRCm39)	V377I	probably benign	Het
Vmn2r23	A	G	6: 123,710,352 (GRCm39)	T552A	probably damaging	Het
Xrcc3	C	T	12: 111,771,044 (GRCm39)	R295Q	probably damaging	Het
Zfp780b	T	C	7: 27,664,243 (GRCm39)	N104S	probably benign	Het
Zkscan17	A	G	11: 59,378,397 (GRCm39)	V262A	possibly damaging	Het

Other mutations in Ggn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0110:Ggn	UTSW	7	28,870,721 (GRCm39)	missense	probably damaging	1.00
R0302:Ggn	UTSW	7	28,870,665 (GRCm39)	splice site	probably null
R0317:Ggn	UTSW	7	28,870,515 (GRCm39)	start codon destroyed	probably null
R0376:Ggn	UTSW	7	28,872,447 (GRCm39)	missense	possibly damaging	0.51
R0469:Ggn	UTSW	7	28,870,721 (GRCm39)	missense	probably damaging	1.00
R0581:Ggn	UTSW	7	28,871,729 (GRCm39)	missense	probably benign	0.40
R1375:Ggn	UTSW	7	28,871,366 (GRCm39)	missense	probably damaging	0.97
R1956:Ggn	UTSW	7	28,871,341 (GRCm39)	missense	probably damaging	0.99
R2012:Ggn	UTSW	7	28,873,188 (GRCm39)	splice site	probably null
R4436:Ggn	UTSW	7	28,870,976 (GRCm39)	missense	probably damaging	0.98
R4444:Ggn	UTSW	7	28,871,585 (GRCm39)	missense	probably benign	0.06
R4977:Ggn	UTSW	7	28,871,621 (GRCm39)	missense	probably damaging	1.00
R5822:Ggn	UTSW	7	28,871,981 (GRCm39)	missense	probably damaging	0.97
R6180:Ggn	UTSW	7	28,872,474 (GRCm39)	missense	probably damaging	0.98
R6294:Ggn	UTSW	7	28,873,273 (GRCm39)	missense	possibly damaging	0.92
R6667:Ggn	UTSW	7	28,872,093 (GRCm39)	missense	possibly damaging	0.71
R6963:Ggn	UTSW	7	28,871,007 (GRCm39)	missense	probably damaging	0.99
R7084:Ggn	UTSW	7	28,872,423 (GRCm39)	missense	probably damaging	0.97
R7242:Ggn	UTSW	7	28,872,459 (GRCm39)	missense	possibly damaging	0.86
R7371:Ggn	UTSW	7	28,871,605 (GRCm39)	missense	probably benign	0.06
R9558:Ggn	UTSW	7	28,871,973 (GRCm39)	missense	probably damaging	0.99
Z1186:Ggn	UTSW	7	28,870,900 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTATGCTGAGGTCCTGAAG -3'
(R):5'- AGGAGGTATCTGCTGTGGAC -3'

Sequencing Primer
(F):5'- TCGTGCAGCTCAGGAAAC -3'
(R):5'- CTGTGGACTTGGAGGCAC -3'

Posted On

2016-11-21