Incidental Mutation 'R2244:Sgo2a'
| ID |
240590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgo2a
|
| Ensembl Gene |
ENSMUSG00000026039 |
| Gene Name |
shugoshin 2A |
| Synonyms |
Tripin, 5730576N04Rik, D1Ertd8e, Sgol2, Sgol2a, 1110007N04Rik |
| MMRRC Submission |
040244-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2244 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
58035130-58065058 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58056213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 799
(I799T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027202]
[ENSMUST00000163061]
|
| AlphaFold |
Q7TSY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027202
AA Change: I799T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000027202
Gene: ENSMUSG00000026039
AA Change: I799T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
G |
7: 132,484,940 (GRCm39) |
T328A |
probably benign |
Het |
| Aen |
T |
C |
7: 78,557,045 (GRCm39) |
Y156H |
probably damaging |
Het |
| Aip |
T |
C |
19: 4,164,796 (GRCm39) |
D263G |
probably benign |
Het |
| Car1 |
T |
A |
3: 14,835,912 (GRCm39) |
I70F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,889,775 (GRCm39) |
F1357Y |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,064,564 (GRCm39) |
E482G |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,434,117 (GRCm39) |
T398A |
possibly damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,449 (GRCm39) |
F240S |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,575,602 (GRCm39) |
R208* |
probably null |
Het |
| Itsn1 |
A |
G |
16: 91,650,659 (GRCm39) |
N928S |
probably null |
Het |
| Ly75 |
T |
C |
2: 60,180,257 (GRCm39) |
D640G |
probably benign |
Het |
| Mfsd4a |
T |
A |
1: 131,956,243 (GRCm39) |
E507V |
probably benign |
Het |
| Nyap1 |
T |
C |
5: 137,733,576 (GRCm39) |
T486A |
probably damaging |
Het |
| Or11g2 |
G |
A |
14: 50,856,114 (GRCm39) |
C145Y |
probably damaging |
Het |
| Pgam2 |
T |
C |
11: 5,751,723 (GRCm39) |
T238A |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,264,045 (GRCm39) |
D343G |
probably benign |
Het |
| Rbpjl |
G |
T |
2: 164,245,137 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
14: 70,024,976 (GRCm39) |
|
probably benign |
Het |
| Selp |
G |
T |
1: 163,964,855 (GRCm39) |
E506* |
probably null |
Het |
| Slc45a2 |
A |
G |
15: 11,003,087 (GRCm39) |
T187A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 36,755,689 (GRCm39) |
L103H |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Usp20 |
T |
C |
2: 30,900,343 (GRCm39) |
S286P |
possibly damaging |
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 |
|
R3896:Sgo2a
|
UTSW |
1 |
58,052,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4919:Sgo2a
|
UTSW |
1 |
58,037,293 (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'- GACTTCCCAGGAACTTTAAAAGAC -3'
(R):5'- ACTGTTGATTTCCCCAAAGTCAC -3'
Sequencing Primer
(F):5'- ACTTAAGTGAGTTTGATACGCCTGC -3'
(R):5'- CGCAATCTTTGATAGAGCT -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation