Incidental Mutation 'R4436:Ggn'
| ID |
329525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ggn
|
| Ensembl Gene |
ENSMUSG00000031493 |
| Gene Name |
gametogenetin |
| Synonyms |
|
| MMRRC Submission |
041702-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4436 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28869635-28873363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28870976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 132
(T132S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033886]
[ENSMUST00000048923]
[ENSMUST00000059642]
[ENSMUST00000098609]
[ENSMUST00000182328]
[ENSMUST00000186182]
[ENSMUST00000209019]
[ENSMUST00000208288]
[ENSMUST00000208330]
[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: T155S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493
AA Change: T155S
| 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 |
possibly damaging
Transcript: ENSMUST00000209019
AA Change: T119S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208288
AA Change: T155S
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208330
AA Change: T132S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208592
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208659
|
| Meta Mutation Damage Score |
0.0922 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,248,768 (GRCm39) |
I779V |
possibly damaging |
Het |
| Asap1 |
T |
G |
15: 64,221,692 (GRCm39) |
D15A |
probably benign |
Het |
| Ascc2 |
A |
G |
11: 4,606,305 (GRCm39) |
D193G |
probably damaging |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,095,276 (GRCm39) |
I1941V |
probably benign |
Het |
| Ccdc85a |
T |
C |
11: 28,526,457 (GRCm39) |
T384A |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,194 (GRCm39) |
N91S |
probably benign |
Het |
| Cdk17 |
T |
A |
10: 93,047,758 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
C |
7: 83,636,637 (GRCm39) |
D332G |
probably null |
Het |
| Ces2f |
G |
A |
8: 105,679,788 (GRCm39) |
R427H |
probably benign |
Het |
| Clec4a2 |
G |
A |
6: 123,105,013 (GRCm39) |
|
probably null |
Het |
| Coa8 |
T |
A |
12: 111,717,642 (GRCm39) |
D167E |
probably benign |
Het |
| Coq9 |
T |
C |
8: 95,579,743 (GRCm39) |
F198L |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,390,233 (GRCm39) |
A253S |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,240,078 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,187,024 (GRCm39) |
G1274V |
probably damaging |
Het |
| Gm11568 |
T |
A |
11: 99,749,421 (GRCm39) |
C209S |
unknown |
Het |
| Gm6931 |
T |
A |
16: 49,245,225 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr20 |
C |
T |
15: 73,567,649 (GRCm39) |
V247I |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,761,237 (GRCm39) |
V329E |
possibly damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,223,808 (GRCm39) |
L114P |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hivep3 |
C |
T |
4: 119,953,120 (GRCm39) |
P479S |
probably benign |
Het |
| Igkv6-20 |
A |
G |
6: 70,313,104 (GRCm39) |
V23A |
probably damaging |
Het |
| Ikbip |
T |
A |
10: 90,937,751 (GRCm39) |
N141K |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,476,124 (GRCm39) |
E815G |
probably damaging |
Het |
| Krt77 |
A |
T |
15: 101,773,904 (GRCm39) |
V250E |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,202,502 (GRCm39) |
C1050S |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,421,135 (GRCm39) |
I40V |
probably benign |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,480,727 (GRCm39) |
F271L |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,100,246 (GRCm39) |
M1885V |
probably damaging |
Het |
| Plek |
A |
G |
11: 16,942,972 (GRCm39) |
Y107H |
probably damaging |
Het |
| Ppp1r15a |
C |
T |
7: 45,174,203 (GRCm39) |
V202M |
probably damaging |
Het |
| Ppp1r3e |
C |
A |
14: 55,114,007 (GRCm39) |
A222S |
probably benign |
Het |
| Rac2 |
G |
T |
15: 78,454,943 (GRCm39) |
Y32* |
probably null |
Het |
| Sdf4 |
T |
G |
4: 156,093,404 (GRCm39) |
|
probably null |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Spic |
T |
A |
10: 88,512,817 (GRCm39) |
R111S |
probably benign |
Het |
| Ssh3 |
A |
G |
19: 4,315,394 (GRCm39) |
F315L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,595,253 (GRCm39) |
K11972R |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,439,745 (GRCm39) |
S30F |
probably benign |
Het |
| Vmn1r17 |
G |
C |
6: 57,337,719 (GRCm39) |
I166M |
possibly damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,478,645 (GRCm39) |
Y34C |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,906,869 (GRCm39) |
T945M |
probably damaging |
Het |
| Zfp316 |
C |
A |
5: 143,239,803 (GRCm39) |
A739S |
probably damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
|
|
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'- TTTTAACCACAGTCCCCGAC -3'
(R):5'- GGATCGCAAGTTGATGGTGC -3'
Sequencing Primer
(F):5'- CGACCTTCTTCAAAAATGGGG -3'
(R):5'- CAAGTTGATGGTGCTGGCG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation