Mutagenetix > Incidental Mutation

Incidental Mutation 'R4444:Ggn'

329798

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 #

R4444 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28869635-28873363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28871585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 322 (T322A)

Ref Sequence

ENSEMBL: ENSMUSP00000146750 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000098609
AA Change: T358A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493
AA Change: T358A

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 benign
Transcript: ENSMUST00000208330
AA Change: T335A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000209019
AA Change: T322A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208461

Predicted Effect

probably benign
Transcript: ENSMUST00000209034

Predicted Effect

probably benign
Transcript: ENSMUST00000208288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208592

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	G	T	7: 45,785,618 (GRCm39)	T695N	probably benign	Het
Cdkl2	G	A	5: 92,168,168 (GRCm39)	T342I	probably benign	Het
Cntn5	C	A	9: 9,704,947 (GRCm39)	E822D	probably damaging	Het
Cysltr2	G	A	14: 73,267,333 (GRCm39)	H126Y	possibly damaging	Het
Dlg2	T	C	7: 91,737,801 (GRCm39)	S428P	probably damaging	Het
Egfr	A	G	11: 16,821,027 (GRCm39)	D314G	probably benign	Het
Ercc5	GAAAA	GAAAAA	1: 44,197,369 (GRCm39)		probably null	Het
Gemin4	A	G	11: 76,102,917 (GRCm39)	F615L	probably benign	Het
Hunk	C	T	16: 90,229,679 (GRCm39)	A180V	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Myo1b	A	T	1: 51,797,078 (GRCm39)	I988N	probably damaging	Het
Nlrp4e	A	G	7: 23,020,652 (GRCm39)	I380V	probably benign	Het
Or2ag1b	T	A	7: 106,288,353 (GRCm39)	Y195F	possibly damaging	Het
Plb1	G	A	5: 32,487,909 (GRCm39)	V930I	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Retreg1	T	G	15: 25,968,530 (GRCm39)		probably null	Het
Rnf13	A	C	3: 57,728,010 (GRCm39)	K230T	probably damaging	Het
Rpl9-ps1	T	C	11: 83,536,207 (GRCm39)	I81V	possibly damaging	Het
Slco1c1	A	G	6: 141,492,417 (GRCm39)	T267A	possibly damaging	Het
Spc25	A	T	2: 69,035,220 (GRCm39)	M47K	probably benign	Het
Syne2	A	G	12: 76,069,804 (GRCm39)	E4377G	probably damaging	Het
Usp34	A	G	11: 23,385,998 (GRCm39)	T2142A	probably damaging	Het
Zc3h7a	A	G	16: 10,968,457 (GRCm39)		probably null	Het
Zfp169	T	A	13: 48,643,813 (GRCm39)	K438M	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
R4977:Ggn	UTSW	7	28,871,621 (GRCm39)	missense	probably damaging	1.00
R5762:Ggn	UTSW	7	28,871,777 (GRCm39)	missense	probably damaging	0.98
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'- AAGTCACCTTCAAGTCGGGG -3'
(R):5'- CCCCATTGAATCGGAAATGC -3'

Sequencing Primer
(F):5'- GGTCCCTTAGCAGCCAAAG -3'
(R):5'- GAAATGCCGTTCAGTGCCATCAG -3'

Posted On

2015-07-21