Incidental Mutation 'R8176:Sgo2a'
| ID |
634321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgo2a
|
| Ensembl Gene |
ENSMUSG00000026039 |
| Gene Name |
shugoshin 2A |
| Synonyms |
Tripin, 5730576N04Rik, D1Ertd8e, Sgol2, Sgol2a, 1110007N04Rik |
| MMRRC Submission |
067601-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8176 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58035130-58065058 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58056252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 812
(D812G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027202]
[ENSMUST00000163061]
|
| AlphaFold |
Q7TSY8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027202
AA Change: D812G
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027202
Gene: ENSMUSG00000026039
AA Change: D812G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030469F06Rik |
T |
A |
12: 31,235,135 (GRCm39) |
F172I |
noncoding transcript |
Het |
| Aatk |
A |
G |
11: 119,907,241 (GRCm39) |
V154A |
probably damaging |
Het |
| Abca6 |
A |
C |
11: 110,135,020 (GRCm39) |
V255G |
probably benign |
Het |
| Adam8 |
T |
C |
7: 139,568,786 (GRCm39) |
K211E |
probably benign |
Het |
| Alg12 |
A |
G |
15: 88,690,084 (GRCm39) |
V470A |
possibly damaging |
Het |
| Anks1b |
C |
A |
10: 89,905,353 (GRCm39) |
H231Q |
probably damaging |
Het |
| Bcl2 |
T |
C |
1: 106,640,528 (GRCm39) |
Y28C |
probably damaging |
Het |
| Bms1 |
G |
T |
6: 118,395,411 (GRCm39) |
F45L |
probably damaging |
Het |
| Btd |
T |
A |
14: 31,384,073 (GRCm39) |
F20I |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,470,844 (GRCm39) |
S51P |
probably benign |
Het |
| Capn7 |
C |
A |
14: 31,069,729 (GRCm39) |
F184L |
probably benign |
Het |
| Cd300lg |
A |
T |
11: 101,932,390 (GRCm39) |
|
probably benign |
Het |
| Cdc34 |
T |
C |
10: 79,518,362 (GRCm39) |
Y39H |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,935,851 (GRCm39) |
K429E |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,784,114 (GRCm39) |
N473S |
probably benign |
Het |
| Cntln |
C |
T |
4: 84,806,926 (GRCm39) |
T136I |
probably damaging |
Het |
| Cyfip1 |
A |
T |
7: 55,574,175 (GRCm39) |
L1032F |
probably benign |
Het |
| Dach1 |
C |
T |
14: 98,153,916 (GRCm39) |
V392I |
probably benign |
Het |
| Dnah14 |
C |
T |
1: 181,484,598 (GRCm39) |
S1590L |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,376,786 (GRCm39) |
Y1524H |
possibly damaging |
Het |
| Dusp13b |
T |
C |
14: 21,797,549 (GRCm39) |
I103V |
possibly damaging |
Het |
| Eeig1 |
A |
G |
2: 32,453,624 (GRCm39) |
T158A |
probably benign |
Het |
| Efhb |
T |
C |
17: 53,707,874 (GRCm39) |
Y763C |
probably damaging |
Het |
| Fam117a |
G |
T |
11: 95,227,965 (GRCm39) |
R25L |
unknown |
Het |
| Fcgbp |
T |
C |
7: 27,791,174 (GRCm39) |
S812P |
possibly damaging |
Het |
| Fgd5 |
T |
A |
6: 91,964,965 (GRCm39) |
N399K |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,934,017 (GRCm39) |
I168N |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,562,761 (GRCm39) |
I582K |
possibly damaging |
Het |
| Gm21915 |
T |
A |
9: 40,582,266 (GRCm39) |
S120T |
probably benign |
Het |
| Gtf3c5 |
A |
G |
2: 28,460,429 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
A |
T |
13: 14,422,286 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
A |
10: 57,381,290 (GRCm39) |
Y293* |
probably null |
Het |
| Ints10 |
T |
A |
8: 69,255,603 (GRCm39) |
Y198N |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,001,957 (GRCm39) |
E399G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,645,597 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
T |
C |
17: 53,285,122 (GRCm39) |
S1031P |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,597,387 (GRCm39) |
T279A |
probably benign |
Het |
| Ly6a |
C |
T |
15: 74,868,300 (GRCm39) |
|
probably null |
Het |
| Marchf4 |
T |
C |
1: 72,573,998 (GRCm39) |
E100G |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,084,456 (GRCm39) |
E84G |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,467,886 (GRCm39) |
Y808C |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,317,858 (GRCm39) |
V1158A |
possibly damaging |
Het |
| Npepps |
A |
G |
11: 97,126,977 (GRCm39) |
S428P |
probably damaging |
Het |
| Onecut2 |
A |
T |
18: 64,473,931 (GRCm39) |
T161S |
possibly damaging |
Het |
| Or10j27 |
C |
T |
1: 172,958,383 (GRCm39) |
V134I |
probably benign |
Het |
| Or52e19b |
G |
A |
7: 103,033,071 (GRCm39) |
T46I |
probably benign |
Het |
| Or6c5 |
T |
G |
10: 129,074,747 (GRCm39) |
M243R |
probably benign |
Het |
| Pdp2 |
A |
G |
8: 105,321,687 (GRCm39) |
D512G |
probably damaging |
Het |
| Pex11b |
G |
T |
3: 96,551,027 (GRCm39) |
V171L |
probably benign |
Het |
| Potefam2 |
T |
C |
7: 62,432,783 (GRCm39) |
|
probably null |
Het |
| Ppil3 |
A |
T |
1: 58,480,078 (GRCm39) |
C32* |
probably null |
Het |
| Prune2 |
T |
C |
19: 17,095,656 (GRCm39) |
Y387H |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,605 (GRCm39) |
H518N |
possibly damaging |
Het |
| Rhot2 |
T |
C |
17: 26,063,068 (GRCm39) |
Y58C |
probably damaging |
Het |
| Sec16b |
C |
A |
1: 157,362,981 (GRCm39) |
H271N |
probably damaging |
Het |
| Skap2 |
T |
C |
6: 51,884,878 (GRCm39) |
E261G |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,865,117 (GRCm39) |
N755S |
probably benign |
Het |
| Stat5a |
T |
A |
11: 100,767,689 (GRCm39) |
M419K |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,270,465 (GRCm39) |
C1281Y |
probably damaging |
Het |
| Tm9sf2 |
T |
G |
14: 122,374,913 (GRCm39) |
S196R |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,292,837 (GRCm39) |
H946L |
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 |
|
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 |
|
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'- AGTGAGTTTGATACGCCTGC -3'
(R):5'- GTGTGCAAGGATCTTGAATTGGATC -3'
Sequencing Primer
(F):5'- ACGCCTGCTTTTTGTAACAAAG -3'
(R):5'- GATTTCCCCAAAGTCACAAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation