Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:Ggn'

527022

Institutional Source

Beutler Lab

Gene Symbol

Ggn

Ensembl Gene

ENSMUSG00000031493

Gene Name

gametogenetin

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29170210-29173976 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29172668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 491 (H491L)

Ref Sequence

ENSEMBL: ENSMUSP00000146750 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000098609
AA Change: H527L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493
AA Change: H527L

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

noncoding transcript
Transcript: ENSMUST00000207087

Predicted Effect

probably benign
Transcript: ENSMUST00000208288

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208330
AA Change: H504L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208592

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209019
AA Change: H491L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000209034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208659

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,610,642	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,315,749	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,307,740	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,507,788	S1496N	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
Atp12a	T	C	14: 56,384,188	V760A	possibly damaging	Het
Casp2	T	C	6: 42,279,836	C343R	probably damaging	Het
Cblb	T	A	16: 52,152,644	M446K	possibly damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Ddit4l	A	G	3: 137,626,121	K83E	probably benign	Het
E430018J23Rik	A	G	7: 127,393,423	M5T	probably benign	Het
Epc2	A	G	2: 49,522,669	T220A	probably damaging	Het
Epha5	T	C	5: 84,071,191	D741G	probably damaging	Het
Flg2	A	T	3: 93,201,761	R365S	possibly damaging	Het
Gm21119	T	C	8: 20,621,939	S267P	probably benign	Het
Gm8332	A	T	12: 88,249,705	D132E	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,406,532	V100A	probably benign	Het
Invs	A	T	4: 48,402,870	Y501F	possibly damaging	Het
Iqcm	G	T	8: 75,753,352	G313W	probably damaging	Het
Jph2	A	G	2: 163,376,286	S157P	probably damaging	Het
Mast4	T	C	13: 102,737,496	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,676,934	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,321,323	L837P	probably damaging	Het
Neb	G	A	2: 52,147,189	T6836I	probably damaging	Het
Nol12	T	A	15: 78,940,080	D133E	probably benign	Het
Olfr1136	A	G	2: 87,693,570	V104A	probably benign	Het
Oxtr	C	A	6: 112,477,099		probably benign	Het
Pcmt1	A	G	10: 7,663,149	L38P	probably damaging	Het
Pik3r2	T	C	8: 70,769,173	Y617C	probably damaging	Het
Prl7a2	T	C	13: 27,661,041	N121D	probably benign	Het
Pvr	G	T	7: 19,905,802	Q380K	probably benign	Het
Rtn2	A	G	7: 19,287,259	E188G	probably benign	Het
Setd4	C	A	16: 93,590,030	R260L	probably benign	Het
Six5	A	G	7: 19,096,569	N374D	probably benign	Het
Slc9b1	T	C	3: 135,371,965	I140T	probably damaging	Het
Supt16	A	G	14: 52,172,063	F797L	probably damaging	Het
Tbata	T	C	10: 61,185,363	L262P	probably damaging	Het
Tti1	A	T	2: 158,008,427	C297*	probably null	Het
Ush1c	C	A	7: 46,225,624	G139C	probably damaging	Het
Vmn1r1	C	T	1: 182,157,777	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,401,092	T600I	probably damaging	Het
Zfp873	A	G	10: 82,060,589	T422A	probably benign	Het
Zfp943	G	A	17: 21,992,908	C325Y	probably damaging	Het

Other mutations in Ggn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0110:Ggn	UTSW	7	29171296	missense	probably damaging	1.00
R0302:Ggn	UTSW	7	29171240	splice site	probably null
R0317:Ggn	UTSW	7	29171090	start codon destroyed	probably null
R0376:Ggn	UTSW	7	29173022	missense	possibly damaging	0.51
R0469:Ggn	UTSW	7	29171296	missense	probably damaging	1.00
R0581:Ggn	UTSW	7	29172304	missense	probably benign	0.40
R1375:Ggn	UTSW	7	29171941	missense	probably damaging	0.97
R1956:Ggn	UTSW	7	29171916	missense	probably damaging	0.99
R2012:Ggn	UTSW	7	29173763	splice site	probably null
R4436:Ggn	UTSW	7	29171551	missense	probably damaging	0.98
R4444:Ggn	UTSW	7	29172160	missense	probably benign	0.06
R4977:Ggn	UTSW	7	29172196	missense	probably damaging	1.00
R5762:Ggn	UTSW	7	29172352	missense	probably damaging	0.98
R5822:Ggn	UTSW	7	29172556	missense	probably damaging	0.97
R6180:Ggn	UTSW	7	29173049	missense	probably damaging	0.98
R6294:Ggn	UTSW	7	29173848	missense	possibly damaging	0.92
R6963:Ggn	UTSW	7	29171582	missense	probably damaging	0.99
R7084:Ggn	UTSW	7	29172998	missense	probably damaging	0.97
R7242:Ggn	UTSW	7	29173034	missense	possibly damaging	0.86
R7371:Ggn	UTSW	7	29172180	missense	probably benign	0.06
R9558:Ggn	UTSW	7	29172548	missense	probably damaging	0.99
Z1186:Ggn	UTSW	7	29171475	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GACACATCCATCTTCAGGGC -3'
(R):5'- TCCTGCGTGTACGAGTCTTG -3'

Sequencing Primer
(F):5'- TGTTGGCACCACCCATG -3'
(R):5'- ACGAGTCTTGGGTTGGGGC -3'

Posted On

2018-07-23