Incidental Mutation 'IGL00507:Sgo2a'
ID |
7472 |
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 # |
IGL00507
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58035130-58065058 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58055753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 646
(F646I)
|
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: F646I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000027202 Gene: ENSMUSG00000026039 AA Change: F646I
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 |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
C |
T |
9: 54,529,712 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,113,796 (GRCm39) |
R1450S |
possibly damaging |
Het |
Apc |
A |
G |
18: 34,449,979 (GRCm39) |
I2258V |
probably benign |
Het |
Atxn2l |
C |
A |
7: 126,095,756 (GRCm39) |
A374S |
possibly damaging |
Het |
Cacna1a |
T |
A |
8: 85,297,837 (GRCm39) |
Y1182* |
probably null |
Het |
Cc2d1b |
G |
T |
4: 108,486,927 (GRCm39) |
A647S |
probably damaging |
Het |
Csn2 |
A |
G |
5: 87,842,632 (GRCm39) |
S116P |
probably benign |
Het |
Eya4 |
G |
A |
10: 23,033,434 (GRCm39) |
Q163* |
probably null |
Het |
Fam47c |
A |
T |
X: 77,781,931 (GRCm39) |
D171V |
probably benign |
Het |
Fhdc1 |
A |
T |
3: 84,356,107 (GRCm39) |
C446S |
probably damaging |
Het |
Fkbp9 |
T |
A |
6: 56,827,686 (GRCm39) |
V169E |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,926,048 (GRCm39) |
I3751F |
probably damaging |
Het |
Gkn1 |
T |
C |
6: 87,323,321 (GRCm39) |
Y164C |
probably damaging |
Het |
Hs3st5 |
T |
C |
10: 36,708,918 (GRCm39) |
I151T |
probably benign |
Het |
Ighv8-6 |
A |
T |
12: 115,129,472 (GRCm39) |
S95T |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,420,263 (GRCm39) |
I296V |
probably benign |
Het |
Lrrc66 |
T |
C |
5: 73,764,457 (GRCm39) |
E862G |
probably benign |
Het |
Ltbp3 |
T |
C |
19: 5,806,044 (GRCm39) |
V934A |
probably damaging |
Het |
Mpp3 |
A |
T |
11: 101,892,929 (GRCm39) |
I501K |
possibly damaging |
Het |
Mroh2b |
C |
T |
15: 4,991,609 (GRCm39) |
T1569I |
probably damaging |
Het |
Nup133 |
A |
T |
8: 124,645,706 (GRCm39) |
Y626* |
probably null |
Het |
Pak3 |
T |
A |
X: 142,572,329 (GRCm39) |
N477K |
probably damaging |
Het |
Plod3 |
A |
G |
5: 137,025,030 (GRCm39) |
H714R |
possibly damaging |
Het |
Ppil1 |
T |
C |
17: 29,470,675 (GRCm39) |
N102S |
probably damaging |
Het |
Rapgef6 |
A |
T |
11: 54,554,935 (GRCm39) |
R996* |
probably null |
Het |
Scd3 |
G |
A |
19: 44,224,273 (GRCm39) |
D169N |
probably damaging |
Het |
Slc5a8 |
A |
G |
10: 88,743,902 (GRCm39) |
Y346C |
possibly damaging |
Het |
Slc7a15 |
A |
T |
12: 8,585,474 (GRCm39) |
V49E |
probably damaging |
Het |
Stard8 |
G |
A |
X: 98,112,941 (GRCm39) |
E649K |
probably damaging |
Het |
|
Other mutations in Sgo2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-04-20 |