Incidental Mutation 'R1251:Sgo2a'
ID |
151735 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgo2a
|
Ensembl Gene |
ENSMUSG00000026039 |
Gene Name |
shugoshin 2A |
Synonyms |
Tripin, 5730576N04Rik, D1Ertd8e, Sgol2, Sgol2a, 1110007N04Rik |
MMRRC Submission |
039318-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1251 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
58035130-58065058 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 58039121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027202]
[ENSMUST00000163061]
|
AlphaFold |
Q7TSY8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027202
|
SMART Domains |
Protein: ENSMUSP00000027202 Gene: ENSMUSG00000026039
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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Acap2 |
A |
T |
16: 30,926,989 (GRCm39) |
Y509N |
probably damaging |
Het |
Adcy9 |
T |
A |
16: 4,129,395 (GRCm39) |
E497V |
probably damaging |
Het |
Bcat2 |
T |
G |
7: 45,225,410 (GRCm39) |
L56R |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,498,370 (GRCm39) |
M952V |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Cfap46 |
C |
T |
7: 139,181,181 (GRCm39) |
V2607I |
probably benign |
Het |
Clec18a |
T |
C |
8: 111,808,270 (GRCm39) |
I54V |
possibly damaging |
Het |
Coil |
A |
G |
11: 88,873,125 (GRCm39) |
E455G |
possibly damaging |
Het |
Copg1 |
A |
T |
6: 87,866,989 (GRCm39) |
K75* |
probably null |
Het |
Cyp2j12 |
G |
A |
4: 96,003,903 (GRCm39) |
Q238* |
probably null |
Het |
Eif3i |
T |
C |
4: 129,487,178 (GRCm39) |
E229G |
probably damaging |
Het |
Exoc2 |
T |
A |
13: 31,070,259 (GRCm39) |
N411Y |
probably benign |
Het |
Eya2 |
T |
A |
2: 165,596,404 (GRCm39) |
M305K |
probably damaging |
Het |
Faim |
C |
T |
9: 98,874,687 (GRCm39) |
T78M |
probably damaging |
Het |
Fgg |
T |
A |
3: 82,920,287 (GRCm39) |
D355E |
probably benign |
Het |
Foxn1 |
A |
G |
11: 78,249,611 (GRCm39) |
L638P |
probably damaging |
Het |
Grid2ip |
A |
T |
5: 143,371,770 (GRCm39) |
E664D |
possibly damaging |
Het |
Il1rn |
A |
G |
2: 24,235,582 (GRCm39) |
R21G |
probably damaging |
Het |
Ilrun |
C |
T |
17: 28,005,044 (GRCm39) |
|
probably null |
Het |
Inpp4b |
G |
A |
8: 82,617,382 (GRCm39) |
G220R |
probably benign |
Het |
Irx6 |
A |
G |
8: 93,404,881 (GRCm39) |
S250G |
possibly damaging |
Het |
Lyst |
T |
C |
13: 13,809,068 (GRCm39) |
I246T |
probably benign |
Het |
Mcm3 |
G |
A |
1: 20,882,896 (GRCm39) |
Q353* |
probably null |
Het |
Mfhas1 |
A |
G |
8: 36,058,207 (GRCm39) |
Y894C |
probably damaging |
Het |
Mfsd13a |
T |
C |
19: 46,360,492 (GRCm39) |
L348P |
probably damaging |
Het |
Necab1 |
A |
G |
4: 15,111,192 (GRCm39) |
|
probably null |
Het |
Nectin3 |
A |
T |
16: 46,284,205 (GRCm39) |
S160T |
possibly damaging |
Het |
Npc2 |
A |
G |
12: 84,807,658 (GRCm39) |
S67P |
probably damaging |
Het |
Or5e1 |
T |
G |
7: 108,354,114 (GRCm39) |
F17C |
probably damaging |
Het |
Or5m9b |
G |
A |
2: 85,905,164 (GRCm39) |
V27M |
probably benign |
Het |
Pcnx3 |
A |
G |
19: 5,727,210 (GRCm39) |
F1108L |
probably benign |
Het |
Phf21a |
G |
A |
2: 92,189,544 (GRCm39) |
S601N |
probably benign |
Het |
Pold1 |
C |
T |
7: 44,184,475 (GRCm39) |
V842I |
probably benign |
Het |
Rabgap1 |
A |
G |
2: 37,433,246 (GRCm39) |
|
probably null |
Het |
Setd1a |
T |
A |
7: 127,396,596 (GRCm39) |
|
probably benign |
Het |
Sult2a8 |
T |
A |
7: 14,159,350 (GRCm39) |
K90* |
probably null |
Het |
Tlr2 |
T |
C |
3: 83,745,576 (GRCm39) |
D169G |
possibly damaging |
Het |
Tmem95 |
A |
G |
11: 69,767,655 (GRCm39) |
F153S |
probably benign |
Het |
Tube1 |
G |
T |
10: 39,010,204 (GRCm39) |
G10* |
probably null |
Het |
Vmn2r10 |
T |
C |
5: 109,143,890 (GRCm39) |
M687V |
probably benign |
Het |
Zc3h8 |
G |
A |
2: 128,777,289 (GRCm39) |
P117S |
probably benign |
Het |
Zeb1 |
T |
A |
18: 5,705,089 (GRCm39) |
D18E |
probably 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTTCAAAACCTGGGCACGTT -3'
(R):5'- TGCTTATGGTGAGCAACCAAATGATGA -3'
Sequencing Primer
(F):5'- CAAAACCTGGGCACGTTTATTTTC -3'
(R):5'- tgggaggcagaggcagg -3'
|
Posted On |
2014-01-29 |