Incidental Mutation 'IGL00902:Sgo2a'
ID |
26601 |
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 # |
IGL00902
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58035130-58065058 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58055258 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 481
(T481A)
|
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: T481A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000027202 Gene: ENSMUSG00000026039 AA Change: T481A
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
T |
G |
9: 90,070,847 (GRCm39) |
|
probably null |
Het |
Akap11 |
A |
G |
14: 78,733,278 (GRCm39) |
S1876P |
probably benign |
Het |
Bltp1 |
G |
A |
3: 37,095,494 (GRCm39) |
G1001D |
probably damaging |
Het |
Capn10 |
A |
G |
1: 92,870,281 (GRCm39) |
I256V |
probably benign |
Het |
Catsperg2 |
T |
A |
7: 29,400,568 (GRCm39) |
H262L |
possibly damaging |
Het |
Col22a1 |
C |
A |
15: 71,836,508 (GRCm39) |
G509V |
probably damaging |
Het |
Dab2ip |
T |
C |
2: 35,607,124 (GRCm39) |
F523S |
probably damaging |
Het |
Dbnl |
G |
T |
11: 5,748,105 (GRCm39) |
A313S |
probably benign |
Het |
Ddo |
T |
C |
10: 40,523,550 (GRCm39) |
V180A |
probably damaging |
Het |
Enox1 |
A |
G |
14: 77,819,844 (GRCm39) |
M200V |
possibly damaging |
Het |
Fabp6 |
G |
A |
11: 43,489,543 (GRCm39) |
R33C |
probably damaging |
Het |
Gm9104 |
T |
C |
17: 45,776,940 (GRCm39) |
|
probably benign |
Het |
Gspt1 |
C |
T |
16: 11,050,443 (GRCm39) |
V303I |
probably damaging |
Het |
Igf2r |
C |
T |
17: 12,919,245 (GRCm39) |
C1469Y |
probably damaging |
Het |
Igflr1 |
T |
C |
7: 30,266,700 (GRCm39) |
S183P |
possibly damaging |
Het |
Itga6 |
T |
C |
2: 71,679,738 (GRCm39) |
V1001A |
probably benign |
Het |
Itih1 |
G |
A |
14: 30,654,439 (GRCm39) |
|
probably benign |
Het |
Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Lrp5 |
T |
C |
19: 3,650,774 (GRCm39) |
N1220S |
probably damaging |
Het |
Marchf6 |
A |
G |
15: 31,485,124 (GRCm39) |
Y434H |
probably damaging |
Het |
Mbd1 |
A |
G |
18: 74,408,310 (GRCm39) |
Y211C |
possibly damaging |
Het |
Mpeg1 |
C |
A |
19: 12,439,133 (GRCm39) |
A197D |
probably damaging |
Het |
Mroh2b |
T |
A |
15: 4,944,704 (GRCm39) |
L435Q |
probably damaging |
Het |
Mss51 |
A |
C |
14: 20,536,235 (GRCm39) |
M160R |
probably damaging |
Het |
Ndufs7 |
T |
G |
10: 80,091,839 (GRCm39) |
Y190* |
probably null |
Het |
Or6c38 |
T |
A |
10: 128,929,265 (GRCm39) |
I193L |
probably benign |
Het |
Or9g4b |
T |
C |
2: 85,616,461 (GRCm39) |
M202T |
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,684,289 (GRCm39) |
E252G |
probably damaging |
Het |
Ric1 |
T |
C |
19: 29,544,631 (GRCm39) |
V151A |
probably benign |
Het |
Slc5a8 |
A |
G |
10: 88,755,323 (GRCm39) |
T477A |
probably benign |
Het |
Smg5 |
G |
A |
3: 88,260,392 (GRCm39) |
V661I |
probably benign |
Het |
Snx19 |
A |
T |
9: 30,340,028 (GRCm39) |
I389F |
possibly damaging |
Het |
Spem1 |
A |
T |
11: 69,712,643 (GRCm39) |
I64N |
probably damaging |
Het |
Thada |
A |
T |
17: 84,755,404 (GRCm39) |
M262K |
probably damaging |
Het |
Uox |
A |
G |
3: 146,316,161 (GRCm39) |
D32G |
possibly damaging |
Het |
Usp42 |
A |
T |
5: 143,705,629 (GRCm39) |
|
probably benign |
Het |
Usp43 |
G |
A |
11: 67,782,245 (GRCm39) |
P391L |
probably benign |
Het |
Vmn2r56 |
T |
C |
7: 12,449,426 (GRCm39) |
S271G |
probably benign |
Het |
Wdr64 |
T |
A |
1: 175,556,391 (GRCm39) |
C213S |
probably damaging |
Het |
Zfp26 |
A |
T |
9: 20,350,844 (GRCm39) |
S194T |
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 |
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 |
2013-04-17 |