Mutagenetix > Incidental Mutation

Incidental Mutation 'R7084:Ggn'

549752

Institutional Source

Beutler Lab

Gene Symbol

Ggn

Ensembl Gene

ENSMUSG00000031493

Gene Name

gametogenetin

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29170210-29173976 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29172998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 637 (A637E)

Ref Sequence

ENSEMBL: ENSMUSP00000096209 (fasta)

Gene Model

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

AlphaFold

Q80WJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000033886
AA Change: A65E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033886
Gene: ENSMUSG00000031493
AA Change: A65E

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: A637E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493
AA Change: A637E

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

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: ENSMUST00000208288

Predicted Effect

probably damaging
Transcript: ENSMUST00000208330
AA Change: A614E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209019
AA Change: A601E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000209034

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (81/82)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	T	13: 119,488,185	D8E	unknown	Het
4931440F15Rik	G	T	11: 29,825,009	H149Q	probably damaging	Het
Abca5	T	A	11: 110,301,545	I714L	probably benign	Het
Abce1	T	A	8: 79,699,414	S245C	probably benign	Het
Abcg1	T	A	17: 31,106,131	D310E	probably benign	Het
Adhfe1	T	A	1: 9,566,805	I394N	probably benign	Het
Apob	A	T	12: 8,009,591	D2691V	probably benign	Het
Arhgap18	A	G	10: 26,872,738	T340A	possibly damaging	Het
Arsb	A	T	13: 93,940,616	Q497L	probably benign	Het
Asic5	T	C	3: 82,012,011	I354T	probably benign	Het
Atp6v0a1	T	C	11: 101,034,042	C318R	probably damaging	Het
Cftr	T	C	6: 18,226,138	Y362H	probably benign	Het
Crip3	T	C	17: 46,430,790	Y113H	probably benign	Het
Dcaf4	AT	A	12: 83,537,797		probably null	Het
Dock10	T	A	1: 80,503,856	I475F		Het
Dqx1	T	A	6: 83,066,455	Y674N	probably damaging	Het
Dync2h1	G	T	9: 7,113,214	Q2437K	possibly damaging	Het
Ednra	A	T	8: 77,665,105	C385*	probably null	Het
Fam216a	G	A	5: 122,369,560	T68I	probably benign	Het
Fbxw22	A	G	9: 109,404,223	L14P	probably damaging	Het
Fkbp10	A	G	11: 100,421,303	I230V	possibly damaging	Het
Gm156	C	A	6: 129,766,710	A204S	possibly damaging	Het
Hcrtr2	T	C	9: 76,230,660	D391G	probably benign	Het
Heatr5b	A	T	17: 78,810,563	V817D	possibly damaging	Het
Il1f10	G	A	2: 24,293,670	W120*	probably null	Het
Irf5	C	A	6: 29,535,877	R297S	probably damaging	Het
Jak2	A	G	19: 29,286,398	T438A	possibly damaging	Het
Jsrp1	T	C	10: 80,808,576	D332G	possibly damaging	Het
Kank4	A	T	4: 98,771,345	V832D	probably damaging	Het
Kcnip3	C	T	2: 127,510,936	S25N	probably benign	Het
Klk1b16	C	T	7: 44,139,486	H48Y	probably benign	Het
Krtap5-4	G	A	7: 142,303,872	C93Y	unknown	Het
Lacc1	T	A	14: 77,029,656	Q389L	probably benign	Het
Lin9	C	A	1: 180,688,096	T477K	probably benign	Het
Lpar2	A	T	8: 69,823,606	N15I	probably damaging	Het
Ltbp2	C	A	12: 84,868,685	C200F	probably damaging	Het
Mall	G	T	2: 127,708,873	H122Q	probably benign	Het
Mast3	T	C	8: 70,779,473	I1287V	probably benign	Het
Mindy4	T	C	6: 55,278,235	I566T	probably benign	Het
Mme	T	C	3: 63,328,217	Y195H	probably damaging	Het
Mpzl1	T	C	1: 165,604,698	T173A	probably benign	Het
Mri1	G	T	8: 84,251,079	T209N		Het
Myo1e	A	G	9: 70,337,801	I394V	probably damaging	Het
Nat14	T	C	7: 4,924,330	V167A	possibly damaging	Het
Nfasc	A	G	1: 132,570,509	Y1212H	unknown	Het
Nsun7	T	A	5: 66,295,421	L493Q	probably damaging	Het
Obsl1	A	T	1: 75,487,750	S1637R	probably benign	Het
Ocstamp	A	T	2: 165,398,037	Y76*	probably null	Het
Olfr1443	A	C	19: 12,680,834	H242P	probably damaging	Het
Olfr769	T	A	10: 129,111,547	K293*	probably null	Het
Olfr917	G	A	9: 38,665,269	R192C	probably benign	Het
Otog	T	A	7: 46,298,566	C145*	probably null	Het
Padi6	T	A	4: 140,741,558	K5*	probably null	Het
Pcdha5	T	A	18: 36,961,562	S375T	probably benign	Het
Pde10a	C	T	17: 8,941,162	P140S	probably benign	Het
Pgbd1	C	G	13: 21,423,130	C298S	possibly damaging	Het
Plch2	C	T	4: 154,986,991	G977D	probably benign	Het
Pou2f3	T	C	9: 43,128,893	T367A	probably damaging	Het
Ppm1j	T	A	3: 104,784,960	Y352N	probably damaging	Het
Prkag2	T	C	5: 25,021,969	T97A	probably benign	Het
Rpl36a-ps1	T	A	14: 98,994,224	Y26F	probably benign	Het
Sctr	A	T	1: 120,063,271	N445Y	possibly damaging	Het
Serping1	C	T	2: 84,773,491	V69I	probably benign	Het
Slc8a2	T	A	7: 16,145,038	L483Q	probably benign	Het
Spag17	T	C	3: 99,939,270	F37L	probably benign	Het
Srrm2	T	A	17: 23,820,316	M1978K	probably damaging	Het
Tcp11	T	C	17: 28,067,021	Q540R	probably benign	Het
Thnsl1	G	T	2: 21,212,330	R298S	possibly damaging	Het
Tigd5	T	A	15: 75,910,381	Y197*	probably null	Het
Tmprss11g	A	T	5: 86,492,200	L203Q	probably damaging	Het
Trim35	T	A	14: 66,308,822	V346E	probably damaging	Het
Ttn	T	C	2: 76,768,364	I19402V	possibly damaging	Het
Ttn	C	T	2: 76,919,345	E3787K	probably benign	Het
Tut1	G	A	19: 8,965,414	V622I	probably benign	Het
Vmn1r2	A	G	4: 3,172,134	I18V	probably benign	Het
Zbbx	T	C	3: 75,139,546	N22S	possibly damaging	Het
Zfp169	A	C	13: 48,498,863	M26R	probably benign	Het
Zfp180	T	A	7: 24,105,261	H368Q	probably damaging	Het
Zfp638	T	A	6: 83,953,126	S770T	possibly damaging	Het
Znrf1	T	C	8: 111,537,142	M1T	probably null	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
R6667:Ggn	UTSW	7	29172668	missense	possibly damaging	0.71
R6963:Ggn	UTSW	7	29171582	missense	probably damaging	0.99
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'- GTCACATCCCAAGTTCCAGC -3'
(R):5'- ATCCAGGTTAAATAGGTGCAGG -3'

Sequencing Primer
(F):5'- TGAGCTGTCACCGCCAATG -3'
(R):5'- TCCAGGTTAAATAGGTGCAGGACTTG -3'

Posted On

2019-05-15