Incidental Mutation 'R0317:Ggn'
| ID |
25451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggn
|
| Ensembl Gene |
ENSMUSG00000031493 |
| Gene Name |
gametogenetin |
| Synonyms |
|
| MMRRC Submission |
038527-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0317 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28869635-28873363 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 28870515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033886]
[ENSMUST00000048923]
[ENSMUST00000059642]
[ENSMUST00000098609]
[ENSMUST00000182328]
[ENSMUST00000186182]
[ENSMUST00000208288]
[ENSMUST00000209034]
[ENSMUST00000208330]
[ENSMUST00000209019]
|
| 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 null
Transcript: ENSMUST00000098609
AA Change: M1K
|
| SMART Domains |
Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493
AA Change: M1K
| 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 null
Transcript: ENSMUST00000208288
AA Change: M1K
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208592
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208461
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207778
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.8%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,243,459 (GRCm39) |
V1774A |
probably damaging |
Het |
| Adam34 |
G |
A |
8: 44,105,288 (GRCm39) |
P119L |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,113,429 (GRCm39) |
|
probably null |
Het |
| Arfip2 |
G |
A |
7: 105,286,430 (GRCm39) |
T124M |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,330,965 (GRCm39) |
S560P |
probably damaging |
Het |
| Bcl11a |
A |
T |
11: 24,122,697 (GRCm39) |
|
probably null |
Het |
| Cab39 |
A |
G |
1: 85,776,881 (GRCm39) |
E322G |
probably damaging |
Het |
| Cad |
C |
A |
5: 31,229,665 (GRCm39) |
P1382Q |
probably benign |
Het |
| Cc2d2a |
T |
C |
5: 43,864,243 (GRCm39) |
|
probably null |
Het |
| Cela2a |
A |
T |
4: 141,549,011 (GRCm39) |
|
probably null |
Het |
| Cert1 |
C |
T |
13: 96,770,629 (GRCm39) |
R487* |
probably null |
Het |
| Ces1e |
A |
C |
8: 93,950,667 (GRCm39) |
I38S |
probably benign |
Het |
| Ces1f |
A |
T |
8: 93,990,019 (GRCm39) |
F364I |
probably benign |
Het |
| Chgb |
A |
G |
2: 132,635,731 (GRCm39) |
T558A |
probably benign |
Het |
| Cnpy4 |
C |
T |
5: 138,191,074 (GRCm39) |
Q217* |
probably null |
Het |
| Crlf1 |
A |
G |
8: 70,951,249 (GRCm39) |
T43A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,173,816 (GRCm39) |
M707K |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,513,193 (GRCm39) |
S123N |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,394,933 (GRCm39) |
F304S |
probably damaging |
Het |
| Gadd45gip1 |
G |
A |
8: 85,560,745 (GRCm39) |
R120H |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,242,459 (GRCm39) |
T96A |
probably benign |
Het |
| Gm5239 |
A |
G |
18: 35,669,969 (GRCm39) |
T112A |
probably benign |
Het |
| Insyn2b |
C |
A |
11: 34,352,826 (GRCm39) |
D289E |
possibly damaging |
Het |
| Kifbp |
A |
T |
10: 62,413,861 (GRCm39) |
|
probably null |
Het |
| Lrrc15 |
A |
T |
16: 30,092,561 (GRCm39) |
H259Q |
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,876,045 (GRCm39) |
Y236C |
probably damaging |
Het |
| Med29 |
T |
C |
7: 28,086,284 (GRCm39) |
T175A |
possibly damaging |
Het |
| Mfsd12 |
G |
T |
10: 81,193,633 (GRCm39) |
D68Y |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,108,338 (GRCm39) |
L1308P |
probably damaging |
Het |
| Nphp4 |
T |
A |
4: 152,636,388 (GRCm39) |
|
probably null |
Het |
| Or8g30 |
A |
G |
9: 39,230,757 (GRCm39) |
I51T |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,858,625 (GRCm39) |
V393A |
probably benign |
Het |
| Pgm5 |
A |
G |
19: 24,801,763 (GRCm39) |
I155T |
possibly damaging |
Het |
| Pgr |
A |
T |
9: 8,965,023 (GRCm39) |
I889F |
probably benign |
Het |
| Phactr4 |
T |
A |
4: 132,114,241 (GRCm39) |
K51I |
probably damaging |
Het |
| Pum2 |
T |
A |
12: 8,778,754 (GRCm39) |
I468K |
possibly damaging |
Het |
| Rab11a |
A |
G |
9: 64,632,835 (GRCm39) |
S24P |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,666,799 (GRCm39) |
Q160R |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,813,772 (GRCm39) |
D339G |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,785,499 (GRCm39) |
S666P |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,453,395 (GRCm39) |
|
probably null |
Het |
| Scarb1 |
A |
G |
5: 125,366,756 (GRCm39) |
V59A |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,837,182 (GRCm39) |
V85M |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,335,584 (GRCm39) |
I291V |
possibly damaging |
Het |
| Slco3a1 |
A |
C |
7: 74,154,174 (GRCm39) |
Y104D |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,889,904 (GRCm39) |
D13E |
probably damaging |
Het |
| Tlr1 |
G |
T |
5: 65,083,310 (GRCm39) |
C422* |
probably null |
Het |
| Tmco1 |
T |
C |
1: 167,153,462 (GRCm39) |
V114A |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,951,856 (GRCm39) |
T948A |
probably benign |
Het |
| Tub |
A |
T |
7: 108,620,134 (GRCm39) |
N93Y |
probably damaging |
Het |
| Ufsp2 |
G |
A |
8: 46,445,270 (GRCm39) |
|
probably null |
Het |
| Veph1 |
T |
C |
3: 66,079,396 (GRCm39) |
D373G |
probably benign |
Het |
| Vmn1r206 |
A |
G |
13: 22,805,130 (GRCm39) |
S26P |
possibly damaging |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,240 (GRCm39) |
S60P |
possibly damaging |
Het |
| Wdcp |
A |
G |
12: 4,901,583 (GRCm39) |
S480G |
probably benign |
Het |
| Wnk4 |
T |
C |
11: 101,159,630 (GRCm39) |
S612P |
probably benign |
Het |
| Zfp503 |
T |
C |
14: 22,036,527 (GRCm39) |
K130E |
probably benign |
Het |
| Zkscan16 |
G |
A |
4: 58,957,602 (GRCm39) |
C628Y |
possibly damaging |
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 |
|
|
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 |
|
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'- GTTTGAAACTTTCAACAGAGAGGCTGG -3'
(R):5'- TTTCGCCACTTAGATGGCGCAG -3'
Sequencing Primer
(F):5'- AGACTGACTCCTGGAGCCTG -3'
(R):5'- CGAGGGCAGTTCTAAGGTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation