Incidental Mutation 'IGL02756:Sgo2a'
| ID |
306453 |
| 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 # |
IGL02756
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58035130-58065058 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 58055509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 564
(N564K)
|
| 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: N564K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027202
Gene: ENSMUSG00000026039
AA Change: N564K
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,000,970 (GRCm39) |
D54V |
probably damaging |
Het |
| Adamts18 |
C |
A |
8: 114,440,976 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
T |
A |
4: 98,919,399 (GRCm39) |
L53Q |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,447,588 (GRCm39) |
T1461A |
probably damaging |
Het |
| Arl11 |
T |
A |
14: 61,548,535 (GRCm39) |
V115D |
probably damaging |
Het |
| Cabp4 |
C |
A |
19: 4,188,560 (GRCm39) |
V173L |
possibly damaging |
Het |
| Casq1 |
T |
A |
1: 172,042,672 (GRCm39) |
D230V |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,936,824 (GRCm39) |
I821V |
possibly damaging |
Het |
| Cfap65 |
T |
C |
1: 74,944,239 (GRCm39) |
Y1494C |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,951,069 (GRCm39) |
S215T |
probably damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,169,049 (GRCm39) |
E593G |
possibly damaging |
Het |
| Cstf1 |
A |
G |
2: 172,217,795 (GRCm39) |
D136G |
probably damaging |
Het |
| Ddx19b |
T |
C |
8: 111,737,910 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
A |
T |
2: 180,303,716 (GRCm39) |
L1396Q |
probably benign |
Het |
| Ermn |
A |
G |
2: 57,937,824 (GRCm39) |
I263T |
probably damaging |
Het |
| F12 |
T |
A |
13: 55,568,880 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Far2 |
A |
T |
6: 148,058,889 (GRCm39) |
I192F |
probably damaging |
Het |
| Fshb |
T |
A |
2: 106,889,218 (GRCm39) |
I29F |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,427,811 (GRCm39) |
Y251N |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,831,890 (GRCm39) |
I997V |
possibly damaging |
Het |
| Gprc5d |
A |
G |
6: 135,093,613 (GRCm39) |
V98A |
probably damaging |
Het |
| H2-T23 |
T |
C |
17: 36,342,580 (GRCm39) |
E186G |
probably damaging |
Het |
| Khdrbs3 |
C |
T |
15: 68,896,685 (GRCm39) |
T115I |
probably benign |
Het |
| Kifap3 |
C |
T |
1: 163,689,597 (GRCm39) |
T527M |
probably damaging |
Het |
| Mfsd2a |
C |
T |
4: 122,842,332 (GRCm39) |
A512T |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,235 (GRCm39) |
D135G |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,784,016 (GRCm39) |
V1394A |
probably benign |
Het |
| Nek9 |
A |
C |
12: 85,358,110 (GRCm39) |
|
probably null |
Het |
| Or51q1c |
T |
C |
7: 103,652,866 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8k16 |
T |
C |
2: 85,520,402 (GRCm39) |
S210P |
probably damaging |
Het |
| P2rx2 |
T |
A |
5: 110,490,276 (GRCm39) |
|
probably benign |
Het |
| P4htm |
A |
G |
9: 108,456,977 (GRCm39) |
L410P |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,963,748 (GRCm39) |
W921R |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,175 (GRCm39) |
F288L |
probably benign |
Het |
| Ppp4r3a |
C |
T |
12: 101,024,582 (GRCm39) |
|
probably null |
Het |
| Prss34 |
T |
C |
17: 25,518,251 (GRCm39) |
S144P |
probably damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,758,110 (GRCm39) |
T328A |
probably benign |
Het |
| Rab33b |
A |
T |
3: 51,391,945 (GRCm39) |
T65S |
probably damaging |
Het |
| Rdh8 |
A |
G |
9: 20,736,637 (GRCm39) |
S235G |
possibly damaging |
Het |
| Rrp12 |
T |
C |
19: 41,884,500 (GRCm39) |
K6R |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,587,560 (GRCm39) |
D1025G |
probably benign |
Het |
| Slc43a3 |
A |
T |
2: 84,774,612 (GRCm39) |
M130L |
probably benign |
Het |
| Soat1 |
T |
C |
1: 156,274,145 (GRCm39) |
I89V |
probably benign |
Het |
| St3gal5 |
A |
G |
6: 72,126,157 (GRCm39) |
D307G |
probably null |
Het |
| Stxbp3-ps |
C |
T |
19: 9,535,193 (GRCm39) |
|
noncoding transcript |
Het |
| Tacr2 |
A |
G |
10: 62,097,469 (GRCm39) |
|
probably benign |
Het |
| Tg |
C |
T |
15: 66,606,435 (GRCm39) |
T193I |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,596,179 (GRCm39) |
T191A |
probably damaging |
Het |
| Trim27 |
T |
C |
13: 21,374,256 (GRCm39) |
|
probably benign |
Het |
| Usf2 |
A |
T |
7: 30,646,417 (GRCm39) |
C134* |
probably null |
Het |
| Usp14 |
A |
G |
18: 10,001,769 (GRCm39) |
|
probably null |
Het |
| Usp47 |
T |
C |
7: 111,692,270 (GRCm39) |
S911P |
possibly damaging |
Het |
| Vmn1r73 |
T |
A |
7: 11,490,574 (GRCm39) |
S131T |
possibly damaging |
Het |
| Vmn2r80 |
T |
C |
10: 79,030,145 (GRCm39) |
I657T |
probably damaging |
Het |
| Zfp935 |
A |
T |
13: 62,602,701 (GRCm39) |
C166* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation