Incidental Mutation 'R7145:Sgo2b'
ID |
553714 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgo2b
|
Ensembl Gene |
ENSMUSG00000094443 |
Gene Name |
shugoshin 2B |
Synonyms |
Gm4975, Sgol2b |
MMRRC Submission |
045223-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R7145 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
64377728-64405204 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 64381218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 538
(P538L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179944]
|
AlphaFold |
J3QMK1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179944
AA Change: P538L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000136323 Gene: ENSMUSG00000094443 AA Change: P538L
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: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,775,820 (GRCm39) |
Y1670H |
probably damaging |
Het |
Abca12 |
T |
C |
1: 71,346,212 (GRCm39) |
K886R |
possibly damaging |
Het |
Adcy3 |
G |
A |
12: 4,250,992 (GRCm39) |
E584K |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,693,205 (GRCm39) |
V131D |
probably benign |
Het |
Arhgdig |
C |
T |
17: 26,418,337 (GRCm39) |
W215* |
probably null |
Het |
Cad |
G |
T |
5: 31,224,956 (GRCm39) |
W953L |
possibly damaging |
Het |
Calhm2 |
T |
C |
19: 47,124,080 (GRCm39) |
Y88C |
probably benign |
Het |
Cdk5rap2 |
A |
T |
4: 70,156,468 (GRCm39) |
D1681E |
probably benign |
Het |
Cenpl |
T |
A |
1: 160,910,482 (GRCm39) |
L143H |
possibly damaging |
Het |
Cherp |
T |
C |
8: 73,222,230 (GRCm39) |
K270E |
|
Het |
Cmss1 |
A |
G |
16: 57,131,718 (GRCm39) |
I136T |
probably benign |
Het |
Col23a1 |
T |
C |
11: 51,456,050 (GRCm39) |
|
probably null |
Het |
Crnn |
C |
A |
3: 93,055,689 (GRCm39) |
D158E |
probably damaging |
Het |
Dnmt3a |
A |
T |
12: 3,922,844 (GRCm39) |
Q149L |
probably benign |
Het |
Dst |
T |
A |
1: 34,228,963 (GRCm39) |
N2185K |
probably benign |
Het |
Eif1ad18 |
G |
T |
12: 88,050,597 (GRCm39) |
C44F |
probably benign |
Het |
Elp2 |
T |
A |
18: 24,737,126 (GRCm39) |
N25K |
probably benign |
Het |
Ephb4 |
A |
T |
5: 137,370,308 (GRCm39) |
D845V |
probably damaging |
Het |
Esyt3 |
T |
C |
9: 99,201,627 (GRCm39) |
T561A |
probably damaging |
Het |
F3 |
G |
T |
3: 121,525,235 (GRCm39) |
V159L |
probably damaging |
Het |
Fam81a |
A |
T |
9: 70,017,560 (GRCm39) |
D128E |
probably damaging |
Het |
Flot1 |
T |
G |
17: 36,135,835 (GRCm39) |
H155Q |
probably benign |
Het |
Fut9 |
T |
A |
4: 25,620,507 (GRCm39) |
K102N |
probably damaging |
Het |
Gm6309 |
T |
C |
5: 146,107,100 (GRCm39) |
Q82R |
possibly damaging |
Het |
H13 |
A |
G |
2: 152,522,992 (GRCm39) |
N102D |
probably damaging |
Het |
Lamc2 |
C |
G |
1: 153,006,518 (GRCm39) |
A878P |
possibly damaging |
Het |
Lepr |
C |
T |
4: 101,609,394 (GRCm39) |
T327I |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,285,152 (GRCm39) |
|
probably null |
Het |
Ly86 |
A |
G |
13: 37,560,986 (GRCm39) |
K116E |
probably damaging |
Het |
Mapk8ip2 |
T |
A |
15: 89,343,201 (GRCm39) |
F648I |
possibly damaging |
Het |
Muc16 |
G |
A |
9: 18,566,876 (GRCm39) |
T1881I |
unknown |
Het |
Myh13 |
T |
G |
11: 67,245,566 (GRCm39) |
S1069A |
probably benign |
Het |
Myh4 |
T |
A |
11: 67,151,054 (GRCm39) |
I1903N |
possibly damaging |
Het |
Myo18b |
A |
T |
5: 112,965,545 (GRCm39) |
L1341* |
probably null |
Het |
Naa25 |
G |
T |
5: 121,555,552 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Ncapg |
C |
T |
5: 45,827,372 (GRCm39) |
A3V |
possibly damaging |
Het |
Ncln |
T |
C |
10: 81,324,086 (GRCm39) |
H481R |
probably benign |
Het |
Nek4 |
C |
A |
14: 30,704,305 (GRCm39) |
Q607K |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,796,462 (GRCm39) |
Y1182C |
probably damaging |
Het |
Npnt |
T |
C |
3: 132,615,692 (GRCm39) |
N165S |
probably benign |
Het |
Or2l5 |
C |
G |
16: 19,333,649 (GRCm39) |
V246L |
probably damaging |
Het |
Or4p22 |
C |
T |
2: 88,317,721 (GRCm39) |
S215L |
probably damaging |
Het |
Or8b8 |
A |
G |
9: 37,808,859 (GRCm39) |
H53R |
probably benign |
Het |
Or8k30 |
T |
C |
2: 86,338,872 (GRCm39) |
L23P |
probably damaging |
Het |
Otulin |
T |
C |
15: 27,608,856 (GRCm39) |
Y229C |
probably damaging |
Het |
Palld |
A |
T |
8: 61,985,051 (GRCm39) |
D1071E |
unknown |
Het |
Pcdhb20 |
T |
C |
18: 37,638,142 (GRCm39) |
S223P |
probably damaging |
Het |
Pcdhga6 |
T |
A |
18: 37,840,781 (GRCm39) |
I167N |
probably damaging |
Het |
Pcdhgb4 |
A |
G |
18: 37,854,843 (GRCm39) |
N413D |
probably benign |
Het |
Pcdhgb8 |
T |
A |
18: 37,896,050 (GRCm39) |
Y373* |
probably null |
Het |
Plxna2 |
G |
T |
1: 194,331,830 (GRCm39) |
V419L |
probably benign |
Het |
Rpgrip1l |
A |
T |
8: 91,959,434 (GRCm39) |
|
probably null |
Het |
Rsrc2 |
A |
G |
5: 123,877,630 (GRCm39) |
|
probably benign |
Het |
Scaper |
C |
T |
9: 55,819,395 (GRCm39) |
D107N |
unknown |
Het |
Scgb2b3 |
T |
A |
7: 31,059,573 (GRCm39) |
Y67F |
probably benign |
Het |
Scn5a |
G |
A |
9: 119,315,437 (GRCm39) |
T1757I |
probably damaging |
Het |
Slc9a3 |
A |
G |
13: 74,298,797 (GRCm39) |
K72R |
probably damaging |
Het |
Smchd1 |
T |
A |
17: 71,685,202 (GRCm39) |
T1409S |
probably benign |
Het |
Stab1 |
A |
T |
14: 30,867,030 (GRCm39) |
|
probably null |
Het |
Sult2b1 |
T |
C |
7: 45,383,056 (GRCm39) |
E242G |
probably damaging |
Het |
Tcaf1 |
A |
T |
6: 42,663,687 (GRCm39) |
H64Q |
probably damaging |
Het |
Tle6 |
T |
C |
10: 81,435,910 (GRCm39) |
T2A |
possibly damaging |
Het |
Tmem115 |
T |
C |
9: 107,412,285 (GRCm39) |
V203A |
probably benign |
Het |
Tmem45b |
G |
A |
9: 31,340,337 (GRCm39) |
T108I |
probably damaging |
Het |
Tmf1 |
A |
T |
6: 97,153,079 (GRCm39) |
D331E |
probably damaging |
Het |
Txndc9 |
T |
C |
1: 38,029,377 (GRCm39) |
Y157C |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r27 |
C |
A |
6: 124,168,711 (GRCm39) |
R806S |
probably benign |
Het |
Vmn2r59 |
G |
A |
7: 41,695,188 (GRCm39) |
A408V |
probably damaging |
Het |
Ythdc1 |
T |
C |
5: 86,964,467 (GRCm39) |
V92A |
probably benign |
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 |
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'- GTTTGGAAGGGAAAGTTGCC -3'
(R):5'- CAGCTCAGATCAGGAGAACATTC -3'
Sequencing Primer
(F):5'- GCCTTTTTCTAGGAAGTGCATATC -3'
(R):5'- AAGAGGAGGCGAACATATATGCTAG -3'
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Posted On |
2019-05-15 |