Incidental Mutation 'R5822:Ggn'
| ID |
449976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggn
|
| Ensembl Gene |
ENSMUSG00000031493 |
| Gene Name |
gametogenetin |
| Synonyms |
|
| MMRRC Submission |
044052-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5822 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28869635-28873363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28871981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 454
(P454S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033886]
[ENSMUST00000048923]
[ENSMUST00000059642]
[ENSMUST00000098609]
[ENSMUST00000182328]
[ENSMUST00000186182]
[ENSMUST00000208330]
[ENSMUST00000209019]
[ENSMUST00000208288]
[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 |
probably damaging
Transcript: ENSMUST00000098609
AA Change: P490S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493
AA Change: P490S
| 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 damaging
Transcript: ENSMUST00000208330
AA Change: P467S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209019
AA Change: P454S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207087
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208288
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208659
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208592
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (54/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8a |
C |
T |
11: 109,921,705 (GRCm39) |
E1450K |
probably damaging |
Het |
| B4galnt2 |
T |
C |
11: 95,756,985 (GRCm39) |
Y482C |
probably damaging |
Het |
| Bud23 |
A |
G |
5: 135,092,775 (GRCm39) |
F9L |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,039,816 (GRCm39) |
E1214V |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 104,861,823 (GRCm39) |
M1T |
probably null |
Het |
| Chkb |
T |
C |
15: 89,313,715 (GRCm39) |
E30G |
probably benign |
Het |
| Crp |
A |
C |
1: 172,525,635 (GRCm39) |
|
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,708,670 (GRCm39) |
R375G |
probably null |
Het |
| Ddx11 |
C |
T |
17: 66,436,976 (GRCm39) |
S90L |
probably benign |
Het |
| Flnc |
A |
C |
6: 29,459,429 (GRCm39) |
I2510L |
probably damaging |
Het |
| Ftdc1 |
C |
A |
16: 58,436,075 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
T |
A |
15: 6,692,707 (GRCm39) |
|
probably benign |
Het |
| Gbp3 |
C |
T |
3: 142,272,239 (GRCm39) |
P247L |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,352,894 (GRCm39) |
S2127T |
probably benign |
Het |
| Ipo11 |
A |
G |
13: 106,984,926 (GRCm39) |
|
probably benign |
Het |
| Kcnh7 |
G |
A |
2: 62,546,582 (GRCm39) |
R1000W |
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
| Klc3 |
C |
T |
7: 19,129,724 (GRCm39) |
|
probably null |
Het |
| Lst1 |
A |
T |
17: 35,407,359 (GRCm39) |
M3K |
unknown |
Het |
| Madd |
C |
T |
2: 90,982,878 (GRCm39) |
R1355Q |
probably damaging |
Het |
| Map3k10 |
A |
G |
7: 27,356,159 (GRCm39) |
L920P |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,109 (GRCm39) |
V423A |
probably damaging |
Het |
| Mogat2 |
T |
C |
7: 98,869,112 (GRCm39) |
D302G |
possibly damaging |
Het |
| Nkapl |
A |
C |
13: 21,652,593 (GRCm39) |
S7A |
unknown |
Het |
| Npas2 |
A |
G |
1: 39,386,647 (GRCm39) |
S639G |
probably benign |
Het |
| Nr1h5 |
T |
G |
3: 102,856,644 (GRCm39) |
H260P |
probably damaging |
Het |
| Or2g25 |
T |
C |
17: 37,971,122 (GRCm39) |
Y34C |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,464 (GRCm39) |
L306Q |
possibly damaging |
Het |
| Or4c35 |
T |
C |
2: 89,808,787 (GRCm39) |
S222P |
probably damaging |
Het |
| Or7a36 |
C |
T |
10: 78,820,023 (GRCm39) |
T133I |
possibly damaging |
Het |
| Or8a1b |
T |
C |
9: 37,623,087 (GRCm39) |
M163V |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,156,249 (GRCm39) |
L1142P |
probably damaging |
Het |
| Pdik1l |
C |
T |
4: 134,014,474 (GRCm39) |
E11K |
possibly damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,172,727 (GRCm39) |
V555A |
probably damaging |
Het |
| Ppp6c |
G |
A |
2: 39,090,064 (GRCm39) |
Q81* |
probably null |
Het |
| Pramel18 |
A |
G |
4: 101,767,440 (GRCm39) |
M230V |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,001,444 (GRCm39) |
Y1178F |
probably benign |
Het |
| Relch |
G |
A |
1: 105,646,581 (GRCm39) |
V660M |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,339,886 (GRCm39) |
L860Q |
probably damaging |
Het |
| Sdr39u1 |
A |
G |
14: 56,135,196 (GRCm39) |
V249A |
probably benign |
Het |
| Serhl |
T |
C |
15: 83,000,528 (GRCm39) |
V305A |
probably benign |
Het |
| Slc5a11 |
T |
C |
7: 122,851,654 (GRCm39) |
I201T |
probably damaging |
Het |
| Stk32a |
A |
T |
18: 43,446,552 (GRCm39) |
E334V |
probably benign |
Het |
| Tmem217 |
A |
G |
17: 29,745,529 (GRCm39) |
L67P |
probably damaging |
Het |
| Tnnt1 |
A |
T |
7: 4,519,345 (GRCm39) |
L12* |
probably null |
Het |
| Trim80 |
C |
T |
11: 115,338,747 (GRCm39) |
R526C |
probably damaging |
Het |
| Unc5b |
A |
T |
10: 60,608,306 (GRCm39) |
F635I |
possibly damaging |
Het |
| Utp20 |
T |
G |
10: 88,653,147 (GRCm39) |
N311T |
probably benign |
Het |
| Zfp276 |
A |
G |
8: 123,982,457 (GRCm39) |
T74A |
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 |
|
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 |
|
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 |
|
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'- TCCGATTCAATGGGGCTGTC -3'
(R):5'- GCTGGAACTTGGGATGTGAC -3'
Sequencing Primer
(F):5'- TCTCAGGGCCTTGGGGATC -3'
(R):5'- AGTTGCAGCTGGGACCTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation