Incidental Mutation 'IGL01571:Sgo2a'
ID |
93305 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sgo2a
|
Ensembl Gene |
ENSMUSG00000026039 |
Gene Name |
shugoshin 2A |
Synonyms |
Tripin, 5730576N04Rik, D1Ertd8e, Sgol2, Sgol2a, 1110007N04Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01571
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58035130-58065058 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58057133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1106
(S1106P)
|
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: S1106P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027202 Gene: ENSMUSG00000026039 AA Change: S1106P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190746
|
Coding Region Coverage |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
T |
A |
9: 21,450,377 (GRCm39) |
|
probably benign |
Het |
Cep164 |
T |
C |
9: 45,705,636 (GRCm39) |
Q127R |
possibly damaging |
Het |
Ces1f |
T |
A |
8: 93,984,996 (GRCm39) |
M444L |
probably benign |
Het |
Chd5 |
T |
A |
4: 152,468,572 (GRCm39) |
|
probably benign |
Het |
Cpd |
T |
A |
11: 76,673,122 (GRCm39) |
Y1341F |
probably damaging |
Het |
Cryz |
T |
C |
3: 154,327,380 (GRCm39) |
I268T |
probably damaging |
Het |
Csnk2a1 |
G |
A |
2: 152,117,326 (GRCm39) |
R278H |
probably damaging |
Het |
Cyp4a12b |
A |
G |
4: 115,295,354 (GRCm39) |
I487V |
probably benign |
Het |
Dnajb5 |
T |
C |
4: 42,956,516 (GRCm39) |
|
probably benign |
Het |
Dxo |
A |
T |
17: 35,058,016 (GRCm39) |
H214L |
probably damaging |
Het |
Etfb |
T |
C |
7: 43,102,383 (GRCm39) |
|
probably null |
Het |
G6pc2 |
G |
A |
2: 69,053,311 (GRCm39) |
V122I |
probably damaging |
Het |
Gm5431 |
A |
T |
11: 48,785,540 (GRCm39) |
D278E |
probably benign |
Het |
Gstt2 |
C |
T |
10: 75,670,005 (GRCm39) |
|
probably benign |
Het |
Hnf4g |
A |
C |
3: 3,716,326 (GRCm39) |
|
probably benign |
Het |
Ifi44 |
T |
C |
3: 151,451,174 (GRCm39) |
D259G |
probably damaging |
Het |
Klk1 |
T |
C |
7: 43,878,020 (GRCm39) |
V92A |
probably damaging |
Het |
Lypla1 |
T |
C |
1: 4,915,211 (GRCm39) |
I222T |
probably benign |
Het |
Nbeal2 |
T |
C |
9: 110,461,826 (GRCm39) |
N1510D |
possibly damaging |
Het |
Ndufaf7 |
A |
G |
17: 79,251,281 (GRCm39) |
R229G |
probably damaging |
Het |
Nphp4 |
G |
A |
4: 152,640,839 (GRCm39) |
V1069M |
probably benign |
Het |
Nsd2 |
A |
G |
5: 34,022,031 (GRCm39) |
H528R |
probably benign |
Het |
Or10p21 |
A |
T |
10: 128,847,696 (GRCm39) |
I181F |
probably damaging |
Het |
Or4k48 |
C |
A |
2: 111,475,725 (GRCm39) |
V206L |
probably benign |
Het |
Or7a39 |
A |
G |
10: 78,715,671 (GRCm39) |
I222V |
possibly damaging |
Het |
Pigh |
A |
C |
12: 79,132,634 (GRCm39) |
|
probably benign |
Het |
Prr14l |
A |
T |
5: 32,986,150 (GRCm39) |
M1115K |
probably benign |
Het |
Psg21 |
T |
C |
7: 18,388,750 (GRCm39) |
D114G |
probably damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Pygb |
T |
C |
2: 150,672,393 (GRCm39) |
S831P |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,736,647 (GRCm39) |
D2260V |
probably damaging |
Het |
Slc5a5 |
G |
A |
8: 71,343,976 (GRCm39) |
|
probably benign |
Het |
Tekt4 |
A |
G |
17: 25,695,358 (GRCm39) |
D397G |
probably benign |
Het |
Trrap |
T |
A |
5: 144,770,097 (GRCm39) |
|
probably benign |
Het |
Upf2 |
T |
C |
2: 6,023,750 (GRCm39) |
|
probably benign |
Het |
Usp17lb |
A |
T |
7: 104,489,588 (GRCm39) |
N445K |
possibly damaging |
Het |
Vmn2r111 |
A |
G |
17: 22,790,373 (GRCm39) |
V211A |
probably damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,681,366 (GRCm39) |
I91M |
probably damaging |
Het |
Vps13b |
C |
T |
15: 35,877,635 (GRCm39) |
|
probably benign |
Het |
Zc3hc1 |
G |
A |
6: 30,390,862 (GRCm39) |
T47I |
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 |
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 |
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 |
|
Posted On |
2013-12-09 |