Incidental Mutation 'R4704:Sgo2b'
ID |
356296 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgo2b
|
Ensembl Gene |
ENSMUSG00000094443 |
Gene Name |
shugoshin 2B |
Synonyms |
Gm4975, Sgol2b |
MMRRC Submission |
041952-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R4704 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
64377728-64405204 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64380824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 669
(D669E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179944]
|
AlphaFold |
J3QMK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179944
AA Change: D669E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000136323 Gene: ENSMUSG00000094443 AA Change: D669E
Domain | Start | End | E-Value | Type |
coiled coil region
|
54 |
113 |
N/A |
INTRINSIC |
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
low complexity region
|
163 |
172 |
N/A |
INTRINSIC |
low complexity region
|
400 |
414 |
N/A |
INTRINSIC |
internal_repeat_1
|
528 |
618 |
9.12e-8 |
PROSPERO |
internal_repeat_1
|
713 |
809 |
9.12e-8 |
PROSPERO |
low complexity region
|
1009 |
1024 |
N/A |
INTRINSIC |
low complexity region
|
1059 |
1081 |
N/A |
INTRINSIC |
low complexity region
|
1112 |
1126 |
N/A |
INTRINSIC |
low complexity region
|
1130 |
1148 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210915
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
97% (89/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
A |
T |
7: 130,959,259 (GRCm39) |
M147K |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,226,990 (GRCm39) |
D582G |
possibly damaging |
Het |
Abca2 |
T |
C |
2: 25,333,424 (GRCm39) |
L1683P |
probably damaging |
Het |
Adam39 |
A |
G |
8: 41,278,833 (GRCm39) |
H408R |
probably benign |
Het |
Adcy4 |
A |
G |
14: 56,012,482 (GRCm39) |
S554P |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,990,545 (GRCm39) |
I3943T |
probably damaging |
Het |
Ahnak |
T |
G |
19: 8,989,622 (GRCm39) |
|
probably benign |
Het |
Alkal2 |
T |
A |
12: 30,937,195 (GRCm39) |
S109R |
probably damaging |
Het |
Apobec4 |
A |
G |
1: 152,632,001 (GRCm39) |
T10A |
probably benign |
Het |
Arhgef40 |
A |
G |
14: 52,239,767 (GRCm39) |
N1327S |
probably damaging |
Het |
Arpc3 |
A |
G |
5: 122,538,471 (GRCm39) |
M1V |
probably null |
Het |
Ascc1 |
A |
G |
10: 59,885,624 (GRCm39) |
Y225C |
probably damaging |
Het |
Ascc3 |
A |
G |
10: 50,535,110 (GRCm39) |
I668V |
probably benign |
Het |
Bdnf |
T |
A |
2: 109,554,037 (GRCm39) |
M137K |
possibly damaging |
Het |
Cacna1b |
T |
C |
2: 24,544,475 (GRCm39) |
D1231G |
probably damaging |
Het |
Cds2 |
T |
A |
2: 132,142,522 (GRCm39) |
Y239* |
probably null |
Het |
Cpped1 |
G |
A |
16: 11,703,493 (GRCm39) |
|
probably benign |
Het |
Ctu2 |
G |
A |
8: 123,206,042 (GRCm39) |
R261Q |
probably damaging |
Het |
Cux1 |
A |
G |
5: 136,278,055 (GRCm39) |
V645A |
probably benign |
Het |
Cyp4f13 |
A |
G |
17: 33,144,709 (GRCm39) |
C401R |
probably damaging |
Het |
Dpt |
T |
G |
1: 164,646,518 (GRCm39) |
Y162* |
probably null |
Het |
Ednra |
A |
G |
8: 78,394,592 (GRCm39) |
|
probably benign |
Het |
Eepd1 |
A |
G |
9: 25,394,122 (GRCm39) |
T129A |
probably benign |
Het |
Eif2s1 |
A |
G |
12: 78,923,944 (GRCm39) |
T134A |
probably benign |
Het |
Eloa |
A |
G |
4: 135,738,525 (GRCm39) |
V145A |
probably benign |
Het |
Enam |
T |
A |
5: 88,651,650 (GRCm39) |
L1053* |
probably null |
Het |
Eng |
T |
C |
2: 32,568,924 (GRCm39) |
S484P |
probably benign |
Het |
Eogt |
A |
T |
6: 97,090,813 (GRCm39) |
V442E |
probably damaging |
Het |
Fam185a |
C |
T |
5: 21,685,471 (GRCm39) |
|
probably benign |
Het |
Gm4922 |
C |
T |
10: 18,660,567 (GRCm39) |
V52I |
probably benign |
Het |
Gnao1 |
A |
G |
8: 94,538,004 (GRCm39) |
E14G |
probably benign |
Het |
Gpr75 |
C |
A |
11: 30,841,110 (GRCm39) |
A5D |
probably benign |
Het |
Hbq1b |
T |
A |
11: 32,237,448 (GRCm39) |
|
probably benign |
Het |
Hdac7 |
G |
A |
15: 97,694,097 (GRCm39) |
T724M |
probably damaging |
Het |
Ifi204 |
C |
A |
1: 173,587,927 (GRCm39) |
|
probably benign |
Het |
Ift88 |
A |
G |
14: 57,718,307 (GRCm39) |
|
probably benign |
Het |
Irak4 |
A |
G |
15: 94,464,781 (GRCm39) |
|
probably null |
Het |
Kalrn |
T |
C |
16: 34,024,327 (GRCm39) |
D610G |
probably damaging |
Het |
Kifc2 |
T |
C |
15: 76,547,177 (GRCm39) |
|
probably null |
Het |
Kmt2c |
G |
A |
5: 25,519,025 (GRCm39) |
Q2362* |
probably null |
Het |
Kntc1 |
G |
A |
5: 123,949,496 (GRCm39) |
E1956K |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,686,280 (GRCm39) |
V2781A |
probably benign |
Het |
Lipt2 |
A |
G |
7: 99,809,534 (GRCm39) |
E207G |
probably damaging |
Het |
Mag |
A |
T |
7: 30,608,598 (GRCm39) |
L172Q |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,566,983 (GRCm39) |
C1913S |
unknown |
Het |
Mical3 |
A |
G |
6: 120,935,649 (GRCm39) |
S1626P |
probably benign |
Het |
Mslnl |
G |
T |
17: 25,957,952 (GRCm39) |
W65L |
possibly damaging |
Het |
Muc20 |
G |
T |
16: 32,599,448 (GRCm39) |
A3332S |
possibly damaging |
Het |
Nadk |
C |
A |
4: 155,669,684 (GRCm39) |
P157T |
probably benign |
Het |
Nkx2-3 |
G |
A |
19: 43,601,123 (GRCm39) |
E62K |
probably damaging |
Het |
Or6c2 |
T |
C |
10: 129,362,171 (GRCm39) |
L25P |
possibly damaging |
Het |
Pclo |
A |
G |
5: 14,726,494 (GRCm39) |
|
probably benign |
Het |
Pcna-ps2 |
T |
A |
19: 9,260,786 (GRCm39) |
V15E |
possibly damaging |
Het |
Plekhg3 |
G |
T |
12: 76,625,012 (GRCm39) |
G1285W |
probably damaging |
Het |
Pramel29 |
A |
T |
4: 143,935,162 (GRCm39) |
I193N |
probably damaging |
Het |
Procr |
A |
G |
2: 155,596,258 (GRCm39) |
S142G |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,270,119 (GRCm39) |
N14K |
possibly damaging |
Het |
Rin1 |
C |
A |
19: 5,105,018 (GRCm39) |
L693I |
probably damaging |
Het |
Ripk4 |
C |
A |
16: 97,547,204 (GRCm39) |
E290* |
probably null |
Het |
Rnf213 |
A |
G |
11: 119,331,175 (GRCm39) |
Y2128C |
probably damaging |
Het |
Saal1 |
T |
C |
7: 46,349,164 (GRCm39) |
|
probably benign |
Het |
Selplg |
T |
C |
5: 113,957,094 (GRCm39) |
D404G |
probably benign |
Het |
Serpinf1 |
C |
A |
11: 75,301,867 (GRCm39) |
A263S |
probably damaging |
Het |
Slc30a9 |
T |
C |
5: 67,499,616 (GRCm39) |
|
probably benign |
Het |
Sri |
A |
T |
5: 8,112,430 (GRCm39) |
|
probably null |
Het |
Sspo |
G |
A |
6: 48,475,638 (GRCm39) |
C4918Y |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,251,026 (GRCm39) |
Y361H |
probably damaging |
Het |
Tbc1d12 |
T |
A |
19: 38,889,781 (GRCm39) |
W404R |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,735,928 (GRCm39) |
E1841G |
possibly damaging |
Het |
Tep1 |
T |
C |
14: 51,074,530 (GRCm39) |
T1832A |
probably benign |
Het |
Tmem132e |
G |
A |
11: 82,334,357 (GRCm39) |
A623T |
probably damaging |
Het |
Tmem201 |
A |
T |
4: 149,811,774 (GRCm39) |
F357Y |
possibly damaging |
Het |
Trappc13 |
T |
G |
13: 104,303,329 (GRCm39) |
|
probably benign |
Het |
Trav6-5 |
C |
T |
14: 53,728,883 (GRCm39) |
Q47* |
probably null |
Het |
Ubxn1 |
T |
A |
19: 8,849,399 (GRCm39) |
D47E |
probably benign |
Het |
Vmn2r45 |
G |
T |
7: 8,486,535 (GRCm39) |
S251* |
probably null |
Het |
Wnk1 |
A |
G |
6: 119,942,705 (GRCm39) |
L774S |
possibly damaging |
Het |
Zfp189 |
T |
C |
4: 49,530,081 (GRCm39) |
S395P |
probably damaging |
Het |
|
Other mutations in Sgo2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01017:Sgo2b
|
APN |
8 |
64,379,557 (GRCm39) |
missense |
probably benign |
|
IGL01343:Sgo2b
|
APN |
8 |
64,380,349 (GRCm39) |
nonsense |
probably null |
|
IGL02027:Sgo2b
|
APN |
8 |
64,379,863 (GRCm39) |
missense |
probably benign |
|
IGL02090:Sgo2b
|
APN |
8 |
64,380,123 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02121:Sgo2b
|
APN |
8 |
64,384,316 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02206:Sgo2b
|
APN |
8 |
64,394,118 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02554:Sgo2b
|
APN |
8 |
64,379,571 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02663:Sgo2b
|
APN |
8 |
64,396,148 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03149:Sgo2b
|
APN |
8 |
64,379,617 (GRCm39) |
missense |
probably benign |
0.14 |
floater
|
UTSW |
8 |
64,391,451 (GRCm39) |
nonsense |
probably null |
|
R0164:Sgo2b
|
UTSW |
8 |
64,391,417 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0164:Sgo2b
|
UTSW |
8 |
64,391,417 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0201:Sgo2b
|
UTSW |
8 |
64,379,670 (GRCm39) |
missense |
probably benign |
|
R0285:Sgo2b
|
UTSW |
8 |
64,381,823 (GRCm39) |
nonsense |
probably null |
|
R0325:Sgo2b
|
UTSW |
8 |
64,381,410 (GRCm39) |
missense |
probably benign |
0.20 |
R0727:Sgo2b
|
UTSW |
8 |
64,380,816 (GRCm39) |
missense |
probably damaging |
0.98 |
R0943:Sgo2b
|
UTSW |
8 |
64,384,369 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1148:Sgo2b
|
UTSW |
8 |
64,379,889 (GRCm39) |
missense |
probably damaging |
0.99 |
R1266:Sgo2b
|
UTSW |
8 |
64,381,455 (GRCm39) |
missense |
probably benign |
0.00 |
R1484:Sgo2b
|
UTSW |
8 |
64,384,507 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1493:Sgo2b
|
UTSW |
8 |
64,379,889 (GRCm39) |
missense |
probably damaging |
0.99 |
R1537:Sgo2b
|
UTSW |
8 |
64,379,536 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1630:Sgo2b
|
UTSW |
8 |
64,380,831 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1803:Sgo2b
|
UTSW |
8 |
64,380,426 (GRCm39) |
missense |
probably benign |
0.01 |
R1912:Sgo2b
|
UTSW |
8 |
64,384,503 (GRCm39) |
missense |
probably damaging |
0.98 |
R1993:Sgo2b
|
UTSW |
8 |
64,379,867 (GRCm39) |
missense |
probably benign |
0.36 |
R2042:Sgo2b
|
UTSW |
8 |
64,381,561 (GRCm39) |
missense |
probably benign |
|
R2130:Sgo2b
|
UTSW |
8 |
64,380,181 (GRCm39) |
missense |
probably benign |
0.09 |
R2146:Sgo2b
|
UTSW |
8 |
64,381,057 (GRCm39) |
missense |
probably benign |
0.00 |
R2881:Sgo2b
|
UTSW |
8 |
64,380,570 (GRCm39) |
missense |
probably damaging |
0.99 |
R3686:Sgo2b
|
UTSW |
8 |
64,384,361 (GRCm39) |
missense |
probably benign |
0.20 |
R3706:Sgo2b
|
UTSW |
8 |
64,381,179 (GRCm39) |
missense |
probably damaging |
0.98 |
R3889:Sgo2b
|
UTSW |
8 |
64,380,777 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3894:Sgo2b
|
UTSW |
8 |
64,381,767 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3895:Sgo2b
|
UTSW |
8 |
64,381,767 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4058:Sgo2b
|
UTSW |
8 |
64,379,981 (GRCm39) |
missense |
probably damaging |
0.98 |
R4259:Sgo2b
|
UTSW |
8 |
64,381,330 (GRCm39) |
missense |
probably benign |
0.06 |
R4260:Sgo2b
|
UTSW |
8 |
64,381,330 (GRCm39) |
missense |
probably benign |
0.06 |
R4815:Sgo2b
|
UTSW |
8 |
64,384,448 (GRCm39) |
missense |
probably benign |
|
R4922:Sgo2b
|
UTSW |
8 |
64,379,664 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5232:Sgo2b
|
UTSW |
8 |
64,381,636 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5262:Sgo2b
|
UTSW |
8 |
64,396,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R5444:Sgo2b
|
UTSW |
8 |
64,379,590 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5677:Sgo2b
|
UTSW |
8 |
64,380,008 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5959:Sgo2b
|
UTSW |
8 |
64,380,322 (GRCm39) |
missense |
probably benign |
0.01 |
R6004:Sgo2b
|
UTSW |
8 |
64,379,707 (GRCm39) |
nonsense |
probably null |
|
R6267:Sgo2b
|
UTSW |
8 |
64,380,827 (GRCm39) |
missense |
probably benign |
|
R6296:Sgo2b
|
UTSW |
8 |
64,380,827 (GRCm39) |
missense |
probably benign |
|
R6328:Sgo2b
|
UTSW |
8 |
64,381,345 (GRCm39) |
nonsense |
probably null |
|
R6517:Sgo2b
|
UTSW |
8 |
64,384,528 (GRCm39) |
missense |
probably damaging |
0.99 |
R6523:Sgo2b
|
UTSW |
8 |
64,380,538 (GRCm39) |
missense |
probably benign |
0.11 |
R6726:Sgo2b
|
UTSW |
8 |
64,380,769 (GRCm39) |
nonsense |
probably null |
|
R6957:Sgo2b
|
UTSW |
8 |
64,384,489 (GRCm39) |
small deletion |
probably benign |
|
R7031:Sgo2b
|
UTSW |
8 |
64,393,078 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7034:Sgo2b
|
UTSW |
8 |
64,379,868 (GRCm39) |
missense |
probably benign |
0.36 |
R7145:Sgo2b
|
UTSW |
8 |
64,381,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R7289:Sgo2b
|
UTSW |
8 |
64,394,192 (GRCm39) |
missense |
probably damaging |
0.97 |
R7366:Sgo2b
|
UTSW |
8 |
64,391,451 (GRCm39) |
nonsense |
probably null |
|
R7660:Sgo2b
|
UTSW |
8 |
64,393,108 (GRCm39) |
missense |
probably benign |
0.27 |
R7761:Sgo2b
|
UTSW |
8 |
64,379,946 (GRCm39) |
missense |
probably benign |
|
R7762:Sgo2b
|
UTSW |
8 |
64,379,531 (GRCm39) |
missense |
probably benign |
0.03 |
R7822:Sgo2b
|
UTSW |
8 |
64,380,318 (GRCm39) |
missense |
probably damaging |
0.98 |
R8111:Sgo2b
|
UTSW |
8 |
64,396,138 (GRCm39) |
missense |
probably damaging |
0.98 |
R8129:Sgo2b
|
UTSW |
8 |
64,381,834 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8273:Sgo2b
|
UTSW |
8 |
64,377,735 (GRCm39) |
missense |
unknown |
|
R8856:Sgo2b
|
UTSW |
8 |
64,393,091 (GRCm39) |
missense |
probably null |
0.99 |
R9249:Sgo2b
|
UTSW |
8 |
64,391,407 (GRCm39) |
nonsense |
probably null |
|
R9428:Sgo2b
|
UTSW |
8 |
64,393,067 (GRCm39) |
missense |
probably damaging |
0.99 |
R9616:Sgo2b
|
UTSW |
8 |
64,380,274 (GRCm39) |
missense |
probably benign |
|
R9621:Sgo2b
|
UTSW |
8 |
64,380,651 (GRCm39) |
missense |
probably damaging |
0.99 |
RF014:Sgo2b
|
UTSW |
8 |
64,384,439 (GRCm39) |
missense |
possibly damaging |
0.94 |
RF055:Sgo2b
|
UTSW |
8 |
64,396,203 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Sgo2b
|
UTSW |
8 |
64,381,456 (GRCm39) |
missense |
possibly damaging |
0.61 |
Z1088:Sgo2b
|
UTSW |
8 |
64,380,039 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Sgo2b
|
UTSW |
8 |
64,381,419 (GRCm39) |
missense |
possibly damaging |
0.82 |
Z1177:Sgo2b
|
UTSW |
8 |
64,380,473 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCAGGCATATCAGACTCAC -3'
(R):5'- TTGAGAAAGTCTGTCAATGCTCAAC -3'
Sequencing Primer
(F):5'- GAGCAGGCATATCAGACTCACTTAAG -3'
(R):5'- AGTCTGTCAATGCTCAACAAAATC -3'
|
Posted On |
2015-10-21 |