Incidental Mutation 'R4919:Sgo2a'
| ID |
378460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgo2a
|
| Ensembl Gene |
ENSMUSG00000026039 |
| Gene Name |
shugoshin 2A |
| Synonyms |
Tripin, 5730576N04Rik, D1Ertd8e, Sgol2, Sgol2a, 1110007N04Rik |
| MMRRC Submission |
042521-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58035130-58065058 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58037293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 13
(S13P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027202]
[ENSMUST00000163061]
|
| AlphaFold |
Q7TSY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027202
AA Change: S13P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027202
Gene: ENSMUSG00000026039
AA Change: S13P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
54 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
597 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
729 |
N/A |
INTRINSIC |
|
low complexity region
|
1068 |
1078 |
N/A |
INTRINSIC |
|
low complexity region
|
1112 |
1125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163061
|
| SMART Domains |
Protein: ENSMUSP00000124053
Gene: ENSMUSG00000054770
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
23 |
123 |
1.01e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.2087 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with abnormalities in meiosis but not in mitosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 3425401B19Rik |
T |
C |
14: 32,385,245 (GRCm39) |
D240G |
possibly damaging |
Het |
| Aplf |
T |
C |
6: 87,607,046 (GRCm39) |
D456G |
possibly damaging |
Het |
| Brd8 |
A |
G |
18: 34,740,489 (GRCm39) |
F445S |
probably damaging |
Het |
| Coro1b |
C |
T |
19: 4,200,709 (GRCm39) |
R214C |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,402,109 (GRCm39) |
I1101K |
possibly damaging |
Het |
| Enpp1 |
A |
G |
10: 24,523,983 (GRCm39) |
V728A |
probably benign |
Het |
| Gosr1 |
T |
A |
11: 76,625,392 (GRCm39) |
|
probably null |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Ino80 |
T |
A |
2: 119,273,073 (GRCm39) |
T468S |
probably damaging |
Het |
| Kcnab2 |
T |
C |
4: 152,486,397 (GRCm39) |
K134E |
probably damaging |
Het |
| Klhl17 |
C |
T |
4: 156,318,344 (GRCm39) |
V93I |
possibly damaging |
Het |
| Kmt2c |
G |
T |
5: 25,519,393 (GRCm39) |
P2239Q |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,173 (GRCm39) |
F161L |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,537,246 (GRCm39) |
I14F |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,813,974 (GRCm39) |
|
probably null |
Het |
| Musk |
A |
C |
4: 58,366,899 (GRCm39) |
I506L |
probably damaging |
Het |
| Mydgf |
C |
T |
17: 56,483,953 (GRCm39) |
V158I |
probably damaging |
Het |
| Ncapd3 |
C |
T |
9: 26,963,071 (GRCm39) |
P459S |
possibly damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or13a19 |
A |
T |
7: 139,903,427 (GRCm39) |
K272* |
probably null |
Het |
| Or2w6 |
A |
T |
13: 21,842,794 (GRCm39) |
I233N |
possibly damaging |
Het |
| Or5d45 |
A |
G |
2: 88,153,992 (GRCm39) |
V19A |
probably benign |
Het |
| Pnmt |
T |
A |
11: 98,277,477 (GRCm39) |
L7Q |
probably benign |
Het |
| Rerg |
T |
C |
6: 137,033,142 (GRCm39) |
I197V |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,910,194 (GRCm39) |
S199P |
probably benign |
Het |
| Smc1b |
T |
C |
15: 85,001,305 (GRCm39) |
|
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,614,712 (GRCm39) |
S115P |
possibly damaging |
Het |
| Ssh2 |
A |
G |
11: 77,316,146 (GRCm39) |
T250A |
possibly damaging |
Het |
| Sv2a |
A |
G |
3: 96,098,071 (GRCm39) |
N558S |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,401,305 (GRCm39) |
|
probably benign |
Het |
| Tmem39a |
A |
G |
16: 38,405,561 (GRCm39) |
Y46C |
probably benign |
Het |
| Vmn2r2 |
A |
G |
3: 64,024,578 (GRCm39) |
S668P |
possibly damaging |
Het |
| Vwa1 |
C |
A |
4: 155,855,057 (GRCm39) |
A326S |
probably benign |
Het |
| Xpo6 |
A |
G |
7: 125,752,115 (GRCm39) |
M327T |
probably benign |
Het |
|
| Other mutations in Sgo2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Sgo2a
|
APN |
1 |
58,055,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00534:Sgo2a
|
APN |
1 |
58,055,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00902:Sgo2a
|
APN |
1 |
58,055,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01571:Sgo2a
|
APN |
1 |
58,057,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02268:Sgo2a
|
APN |
1 |
58,056,881 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02756:Sgo2a
|
APN |
1 |
58,055,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Sgo2a
|
APN |
1 |
58,055,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02991:Sgo2a
|
APN |
1 |
58,054,514 (GRCm39) |
intron |
probably benign |
|
|
crazy
|
UTSW |
1 |
58,056,954 (GRCm39) |
missense |
probably benign |
0.11 |
|
harpo
|
UTSW |
1 |
58,058,819 (GRCm39) |
nonsense |
probably null |
|
|
mashugana
|
UTSW |
1 |
58,055,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
meshugas
|
UTSW |
1 |
58,042,092 (GRCm39) |
nonsense |
probably null |
|
|
R0036:Sgo2a
|
UTSW |
1 |
58,054,787 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0036:Sgo2a
|
UTSW |
1 |
58,054,787 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0095:Sgo2a
|
UTSW |
1 |
58,054,714 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0325:Sgo2a
|
UTSW |
1 |
58,055,856 (GRCm39) |
missense |
probably benign |
|
|
R0464:Sgo2a
|
UTSW |
1 |
58,039,253 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0699:Sgo2a
|
UTSW |
1 |
58,037,308 (GRCm39) |
nonsense |
probably null |
|
|
R1251:Sgo2a
|
UTSW |
1 |
58,039,121 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1355:Sgo2a
|
UTSW |
1 |
58,057,124 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1457:Sgo2a
|
UTSW |
1 |
58,054,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2244:Sgo2a
|
UTSW |
1 |
58,056,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3896:Sgo2a
|
UTSW |
1 |
58,052,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5030:Sgo2a
|
UTSW |
1 |
58,056,918 (GRCm39) |
nonsense |
probably null |
|
|
R5123:Sgo2a
|
UTSW |
1 |
58,055,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5317:Sgo2a
|
UTSW |
1 |
58,054,683 (GRCm39) |
missense |
probably benign |
|
|
R5767:Sgo2a
|
UTSW |
1 |
58,058,819 (GRCm39) |
nonsense |
probably null |
|
|
R5844:Sgo2a
|
UTSW |
1 |
58,055,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6018:Sgo2a
|
UTSW |
1 |
58,056,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6039:Sgo2a
|
UTSW |
1 |
58,055,775 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6039:Sgo2a
|
UTSW |
1 |
58,055,775 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6450:Sgo2a
|
UTSW |
1 |
58,042,092 (GRCm39) |
nonsense |
probably null |
|
|
R6998:Sgo2a
|
UTSW |
1 |
58,055,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7073:Sgo2a
|
UTSW |
1 |
58,056,944 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7508:Sgo2a
|
UTSW |
1 |
58,056,954 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7722:Sgo2a
|
UTSW |
1 |
58,055,696 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8094:Sgo2a
|
UTSW |
1 |
58,056,300 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8176:Sgo2a
|
UTSW |
1 |
58,056,252 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8782:Sgo2a
|
UTSW |
1 |
58,056,616 (GRCm39) |
start gained |
probably benign |
|
|
R8899:Sgo2a
|
UTSW |
1 |
58,058,822 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8912:Sgo2a
|
UTSW |
1 |
58,056,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9106:Sgo2a
|
UTSW |
1 |
58,037,283 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9256:Sgo2a
|
UTSW |
1 |
58,058,772 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9688:Sgo2a
|
UTSW |
1 |
58,056,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Sgo2a
|
UTSW |
1 |
58,055,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTTTGCAAATACATTATGTCG -3'
(R):5'- AGATTGCAAAACCATTCAGCAG -3'
Sequencing Primer
(F):5'- CGACAGTGTATTGTAAGTCATGG -3'
(R):5'- GATTGCAAAACCATTCAGCAGAATAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation