Incidental Mutation 'R1375:Ggn'
ID 157467
Institutional Source Beutler Lab
Gene Symbol Ggn
Ensembl Gene ENSMUSG00000031493
Gene Name gametogenetin
Synonyms
MMRRC Submission 039439-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1375 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 28869635-28873363 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28871366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 249 (S249P)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: S285P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493
AA Change: S285P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: S262P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000209019
AA Change: S249P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208592
Predicted Effect probably benign
Transcript: ENSMUST00000209034
Predicted Effect probably benign
Transcript: ENSMUST00000208288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208659
Meta Mutation Damage Score 0.0908 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.8%
  • 20x: 89.3%
Validation Efficiency 100% (33/33)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,243,042 (GRCm39) V1268A possibly damaging Het
Ccng1 G A 11: 40,642,941 (GRCm39) P169S probably benign Het
Cep85l A T 10: 53,225,354 (GRCm39) D78E probably damaging Het
Csmd1 C A 8: 16,513,095 (GRCm39) probably null Het
Dapk2 C G 9: 66,127,925 (GRCm39) R68G probably damaging Het
Defb15 T C 8: 22,420,071 (GRCm39) N19D possibly damaging Het
Dnah8 G A 17: 30,956,269 (GRCm39) G2083D probably damaging Het
Gm17541 A T 12: 4,739,825 (GRCm39) probably benign Het
Gnptab T A 10: 88,268,435 (GRCm39) L514Q probably damaging Het
Heg1 C A 16: 33,547,246 (GRCm39) H678N possibly damaging Het
Heg1 T C 16: 33,547,679 (GRCm39) I846T possibly damaging Het
Hydin G A 8: 111,232,854 (GRCm39) probably null Het
Il17b T C 18: 61,823,325 (GRCm39) V53A probably benign Het
Inpp5f T A 7: 128,265,753 (GRCm39) L166* probably null Het
Mdfic2 C T 6: 98,215,260 (GRCm39) C121Y possibly damaging Het
Myh9 A T 15: 77,653,568 (GRCm39) probably null Het
Nsrp1 A G 11: 76,941,543 (GRCm39) probably benign Het
Nup205 T C 6: 35,177,006 (GRCm39) probably benign Het
Olr1 T C 6: 129,484,039 (GRCm39) N11S possibly damaging Het
Or5w1b T A 2: 87,476,081 (GRCm39) N129Y probably damaging Het
Or6b6 A G 7: 106,571,305 (GRCm39) L82P probably damaging Het
Or6c211 A T 10: 129,506,241 (GRCm39) L12Q probably null Het
Or8b46 T A 9: 38,450,830 (GRCm39) V213D possibly damaging Het
Pipox C A 11: 77,772,036 (GRCm39) E363* probably null Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Rpp30 T C 19: 36,078,673 (GRCm39) probably null Het
Septin1 T C 7: 126,817,333 (GRCm39) D25G probably damaging Het
Stk17b T C 1: 53,805,106 (GRCm39) N152D possibly damaging Het
Tasor2 A G 13: 3,626,029 (GRCm39) V1307A probably benign Het
Thsd7b A T 1: 130,087,423 (GRCm39) N1180I probably damaging Het
Other mutations in Ggn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGCACCATCAACTTGCGATCCG -3'
(R):5'- AATGCCGTTCAGTGCCATCAGGAG -3'

Sequencing Primer
(F):5'- GCAGAATCACTCTGGCCTC -3'
(R):5'- TTTCCTGAGCTGCACGAG -3'
Posted On 2014-02-18