Incidental Mutation 'R0581:Ggn'
| ID |
56423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggn
|
| Ensembl Gene |
ENSMUSG00000031493 |
| Gene Name |
gametogenetin |
| Synonyms |
|
| MMRRC Submission |
038771-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0581 (G1)
|
| Quality Score |
186 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28869635-28873363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28871729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 370
(T370A)
|
| 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: T406A
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493
AA Change: T406A
| 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: T383A
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209019
AA Change: T370A
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207087
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208592
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208288
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
| Validation Efficiency |
95% (42/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,100,620 (GRCm39) |
T2761A |
probably benign |
Het |
| Apold1 |
G |
A |
6: 134,960,776 (GRCm39) |
V77I |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,990,060 (GRCm39) |
T139A |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,328,565 (GRCm39) |
I1668F |
possibly damaging |
Het |
| Ccer2 |
T |
A |
7: 28,456,451 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
T |
A |
19: 40,035,999 (GRCm39) |
T304S |
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,187,020 (GRCm39) |
M497L |
probably benign |
Het |
| Evpl |
T |
A |
11: 116,120,316 (GRCm39) |
I541L |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,418,116 (GRCm39) |
|
probably benign |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr68 |
G |
C |
12: 100,844,815 (GRCm39) |
P243R |
probably damaging |
Het |
| Gtf3c2 |
G |
T |
5: 31,316,862 (GRCm39) |
Y720* |
probably null |
Het |
| Il2rb |
T |
A |
15: 78,366,136 (GRCm39) |
Y387F |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,427,529 (GRCm39) |
V282E |
probably damaging |
Het |
| Krt222 |
G |
A |
11: 99,127,018 (GRCm39) |
Q201* |
probably null |
Het |
| Lats1 |
A |
G |
10: 7,578,705 (GRCm39) |
T610A |
possibly damaging |
Het |
| Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
| Myh7 |
T |
C |
14: 55,222,953 (GRCm39) |
I751V |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,998,023 (GRCm39) |
I429T |
probably benign |
Het |
| Nemf |
A |
T |
12: 69,369,045 (GRCm39) |
D723E |
probably benign |
Het |
| Nlrp4b |
T |
C |
7: 10,448,457 (GRCm39) |
L220P |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,851,536 (GRCm39) |
D418V |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,200,718 (GRCm39) |
N1270S |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,458,834 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2g1 |
A |
G |
17: 38,106,993 (GRCm39) |
I219M |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,624,901 (GRCm39) |
T1579I |
possibly damaging |
Het |
| Pkp2 |
T |
A |
16: 16,087,647 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,173,598 (GRCm39) |
Y301C |
probably damaging |
Het |
| Psmb4 |
T |
C |
3: 94,793,479 (GRCm39) |
H134R |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,881 (GRCm39) |
T1043A |
probably benign |
Het |
| Sec14l5 |
T |
A |
16: 4,996,349 (GRCm39) |
|
probably null |
Het |
| Serpina12 |
T |
A |
12: 103,997,399 (GRCm39) |
Q374L |
probably damaging |
Het |
| Serpinb10 |
C |
T |
1: 107,474,692 (GRCm39) |
R362* |
probably null |
Het |
| Sorcs1 |
T |
A |
19: 50,241,139 (GRCm39) |
I416F |
possibly damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,178 (GRCm39) |
D82G |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,483,985 (GRCm39) |
Q89L |
probably damaging |
Het |
| Tat |
A |
G |
8: 110,718,270 (GRCm39) |
T52A |
possibly damaging |
Het |
| Yipf7 |
T |
A |
5: 69,678,406 (GRCm39) |
I128F |
probably benign |
Het |
| Zfp112 |
T |
A |
7: 23,825,288 (GRCm39) |
C419S |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,742,726 (GRCm39) |
I769V |
probably benign |
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 |
|
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 |
|
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'- CTATGCTGAGGTCCTGAAGCAAGG -3'
(R):5'- TATCTGCTGTGGACTTGGAGGCAC -3'
Sequencing Primer
(F):5'- ACCTCCTGGAGCCACTC -3'
(R):5'- CGAACAGGCTCGCCATTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation