Incidental Mutation 'R7822:Sgo2b'
| ID |
601937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgo2b
|
| Ensembl Gene |
ENSMUSG00000094443 |
| Gene Name |
shugoshin 2B |
| Synonyms |
Gm4975, Sgol2b |
| MMRRC Submission |
045876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R7822 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
64377728-64405204 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64380318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 838
(E838G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179944]
|
| AlphaFold |
J3QMK1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179944
AA Change: E838G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136323
Gene: ENSMUSG00000094443
AA Change: E838G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
G |
A |
2: 20,885,524 (GRCm39) |
S551L |
possibly damaging |
Het |
| Ash1l |
T |
C |
3: 88,914,571 (GRCm39) |
S1734P |
probably benign |
Het |
| Btnl2 |
T |
A |
17: 34,582,288 (GRCm39) |
S285T |
possibly damaging |
Het |
| Cadm4 |
A |
G |
7: 24,202,970 (GRCm39) |
D364G |
possibly damaging |
Het |
| Card6 |
T |
A |
15: 5,128,347 (GRCm39) |
K1016N |
possibly damaging |
Het |
| Cdh2 |
G |
T |
18: 16,757,341 (GRCm39) |
N692K |
probably benign |
Het |
| Cep76 |
G |
T |
18: 67,774,219 (GRCm39) |
S9* |
probably null |
Het |
| Cklf |
T |
C |
8: 104,977,729 (GRCm39) |
|
probably null |
Het |
| Ctsa |
T |
C |
2: 164,681,152 (GRCm39) |
*475R |
probably null |
Het |
| Dapk1 |
A |
C |
13: 60,873,715 (GRCm39) |
D406A |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,748,647 (GRCm39) |
V443D |
probably damaging |
Het |
| Dph5 |
C |
T |
3: 115,693,399 (GRCm39) |
Q106* |
probably null |
Het |
| Drg2 |
C |
T |
11: 60,353,026 (GRCm39) |
R220* |
probably null |
Het |
| Efcab8 |
A |
T |
2: 153,652,832 (GRCm39) |
Q509L |
unknown |
Het |
| Efs |
C |
T |
14: 55,154,907 (GRCm39) |
S444N |
probably benign |
Het |
| Evl |
T |
C |
12: 108,614,723 (GRCm39) |
V58A |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,295,730 (GRCm39) |
N34S |
|
Het |
| Gbe1 |
G |
A |
16: 70,230,500 (GRCm39) |
R166H |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,418,785 (GRCm39) |
E516G |
probably damaging |
Het |
| Ghr |
T |
C |
15: 3,487,439 (GRCm39) |
T15A |
probably benign |
Het |
| Gnb4 |
G |
A |
3: 32,650,480 (GRCm39) |
T50M |
probably damaging |
Het |
| Grik3 |
T |
C |
4: 125,550,190 (GRCm39) |
|
probably null |
Het |
| Gstk1 |
T |
C |
6: 42,224,686 (GRCm39) |
Y135H |
probably benign |
Het |
| Gucy2c |
T |
A |
6: 136,685,404 (GRCm39) |
I846F |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,778,835 (GRCm39) |
T321A |
probably benign |
Het |
| Jakmip1 |
A |
T |
5: 37,332,524 (GRCm39) |
N1068I |
probably damaging |
Het |
| Krt36 |
A |
G |
11: 99,994,966 (GRCm39) |
I202T |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,170,070 (GRCm39) |
L741P |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,776,935 (GRCm39) |
N720S |
possibly damaging |
Het |
| Mmp9 |
A |
T |
2: 164,790,956 (GRCm39) |
K115* |
probably null |
Het |
| Mtf2 |
C |
T |
5: 108,228,743 (GRCm39) |
R20* |
probably null |
Het |
| Mycbp2 |
T |
G |
14: 103,376,851 (GRCm39) |
Q3810P |
probably benign |
Het |
| Myom2 |
A |
T |
8: 15,158,454 (GRCm39) |
H802L |
probably benign |
Het |
| Naa25 |
A |
G |
5: 121,545,276 (GRCm39) |
N27D |
probably damaging |
Het |
| Necab2 |
T |
C |
8: 120,181,103 (GRCm39) |
F126L |
probably damaging |
Het |
| Nisch |
C |
G |
14: 30,896,608 (GRCm39) |
|
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,000,938 (GRCm39) |
S152T |
probably damaging |
Het |
| Ntsr1 |
T |
C |
2: 180,180,483 (GRCm39) |
L263P |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 90,995,759 (GRCm39) |
V922A |
possibly damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,994 (GRCm39) |
M299K |
probably benign |
Het |
| Or5b105 |
T |
A |
19: 13,080,417 (GRCm39) |
I84F |
probably benign |
Het |
| Or5d45 |
A |
C |
2: 88,153,425 (GRCm39) |
I208S |
probably benign |
Het |
| Pccb |
C |
A |
9: 100,909,137 (GRCm39) |
C144F |
probably damaging |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Prdm1 |
A |
G |
10: 44,334,478 (GRCm39) |
V16A |
probably benign |
Het |
| Prr5 |
A |
C |
15: 84,649,933 (GRCm39) |
Y219S |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,824,245 (GRCm39) |
D1743G |
probably benign |
Het |
| Rad21l |
G |
T |
2: 151,497,045 (GRCm39) |
D356E |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,710,793 (GRCm39) |
I322T |
probably damaging |
Het |
| Retreg2 |
C |
A |
1: 75,123,185 (GRCm39) |
P319Q |
possibly damaging |
Het |
| Robo2 |
T |
C |
16: 73,770,059 (GRCm39) |
Y559C |
probably damaging |
Het |
| Ror1 |
T |
C |
4: 100,298,564 (GRCm39) |
Y646H |
probably damaging |
Het |
| Rrp15 |
A |
G |
1: 186,481,373 (GRCm39) |
S45P |
probably benign |
Het |
| Sacs |
G |
C |
14: 61,429,652 (GRCm39) |
K570N |
probably benign |
Het |
| Serpinb8 |
C |
T |
1: 107,534,723 (GRCm39) |
Q265* |
probably null |
Het |
| Slc2a12 |
G |
A |
10: 22,540,568 (GRCm39) |
R141K |
probably damaging |
Het |
| Strc |
G |
T |
2: 121,208,219 (GRCm39) |
T384N |
probably benign |
Het |
| Tcaf2 |
T |
C |
6: 42,606,033 (GRCm39) |
S547G |
possibly damaging |
Het |
| Tekt5 |
T |
C |
16: 10,200,792 (GRCm39) |
N243S |
possibly damaging |
Het |
| Tgm3 |
A |
G |
2: 129,883,819 (GRCm39) |
I492M |
probably benign |
Het |
| Tgm7 |
G |
A |
2: 120,934,421 (GRCm39) |
T157I |
probably benign |
Het |
| Trnp1 |
C |
A |
4: 133,225,350 (GRCm39) |
R140L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,609,777 (GRCm39) |
V15797A |
probably damaging |
Het |
| Ugp2 |
A |
T |
11: 21,283,762 (GRCm39) |
S102T |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,172,299 (GRCm39) |
|
probably null |
Het |
| Vmn1r202 |
T |
A |
13: 22,686,241 (GRCm39) |
I59F |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,988,411 (GRCm39) |
E72G |
probably damaging |
Het |
| Zfp109 |
T |
C |
7: 23,928,570 (GRCm39) |
T288A |
probably benign |
Het |
| Zscan12 |
T |
A |
13: 21,553,374 (GRCm39) |
H399Q |
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 |
|
R4704:Sgo2b
|
UTSW |
8 |
64,380,824 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TTAACCGCAGACTACACCTGTTC -3'
(R):5'- TATGCAGCCTGCTTGTCAAG -3'
Sequencing Primer
(F):5'- AACCGCAGACTACACCTGTTCTTATC -3'
(R):5'- CCTGCTTGTCAAGGTGATTCAAAAG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation