Incidental Mutation 'R4922:Sgo2b'
ID |
378698 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgo2b
|
Ensembl Gene |
ENSMUSG00000094443 |
Gene Name |
shugoshin 2B |
Synonyms |
Gm4975, Sgol2b |
MMRRC Submission |
042524-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R4922 (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 64379664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1056
(M1056K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179944]
|
AlphaFold |
J3QMK1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179944
AA Change: M1056K
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000136323 Gene: ENSMUSG00000094443 AA Change: M1056K
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
97% (76/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
G |
T |
4: 129,901,645 (GRCm39) |
C423F |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,750,220 (GRCm39) |
Y722* |
probably null |
Het |
Albfm1 |
A |
G |
5: 90,727,570 (GRCm39) |
H396R |
possibly damaging |
Het |
Anxa3 |
A |
T |
5: 96,968,288 (GRCm39) |
I114F |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,467,934 (GRCm39) |
R1755S |
probably damaging |
Het |
Atf7ip |
A |
T |
6: 136,537,039 (GRCm39) |
T91S |
possibly damaging |
Het |
Bcl2 |
C |
A |
1: 106,640,376 (GRCm39) |
A79S |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,041,314 (GRCm39) |
I2564K |
probably damaging |
Het |
Bmerb1 |
A |
G |
16: 13,804,683 (GRCm39) |
H10R |
possibly damaging |
Het |
Bmp10 |
C |
T |
6: 87,410,557 (GRCm39) |
P117S |
probably benign |
Het |
Bmpr2 |
A |
G |
1: 59,906,583 (GRCm39) |
T559A |
probably benign |
Het |
Cd200r1 |
A |
T |
16: 44,610,039 (GRCm39) |
Y86F |
probably damaging |
Het |
Cemip |
T |
A |
7: 83,596,308 (GRCm39) |
|
probably benign |
Het |
Cfap251 |
T |
C |
5: 123,394,116 (GRCm39) |
V335A |
probably benign |
Het |
Cfap52 |
A |
G |
11: 67,822,548 (GRCm39) |
|
probably null |
Het |
Chml |
T |
C |
1: 175,514,712 (GRCm39) |
H60R |
possibly damaging |
Het |
Cic |
TCCCCC |
TCCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably benign |
Het |
Clec12a |
A |
G |
6: 129,336,441 (GRCm39) |
Y201C |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,258,719 (GRCm39) |
V370A |
probably benign |
Het |
Cpsf3 |
T |
C |
12: 21,351,538 (GRCm39) |
I353T |
probably damaging |
Het |
Csf2rb |
T |
A |
15: 78,230,667 (GRCm39) |
V470E |
probably benign |
Het |
Cyp4a10 |
C |
A |
4: 115,378,291 (GRCm39) |
Q126K |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,013,652 (GRCm39) |
S249P |
probably damaging |
Het |
Dnase2a |
A |
G |
8: 85,635,625 (GRCm39) |
|
probably null |
Het |
Dpp10 |
T |
C |
1: 123,305,882 (GRCm39) |
N490S |
probably benign |
Het |
Drgx |
A |
T |
14: 32,330,363 (GRCm39) |
N160I |
probably damaging |
Het |
Enc1 |
C |
T |
13: 97,382,243 (GRCm39) |
A251V |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,562,434 (GRCm39) |
V1258A |
probably benign |
Het |
Fancm |
G |
A |
12: 65,153,666 (GRCm39) |
|
probably null |
Het |
Fbxo16 |
C |
T |
14: 65,536,657 (GRCm39) |
T177I |
probably benign |
Het |
Gm1965 |
T |
C |
6: 89,123,525 (GRCm39) |
|
noncoding transcript |
Het |
Hal |
A |
T |
10: 93,339,401 (GRCm39) |
M497L |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,497,378 (GRCm39) |
L3936S |
possibly damaging |
Het |
Hs3st4 |
G |
T |
7: 123,996,410 (GRCm39) |
G359W |
probably damaging |
Het |
Il6st |
C |
T |
13: 112,639,399 (GRCm39) |
P608L |
probably damaging |
Het |
Kctd18 |
A |
C |
1: 58,004,707 (GRCm39) |
|
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,940,309 (GRCm39) |
S1636T |
probably damaging |
Het |
Lrrn1 |
A |
T |
6: 107,545,311 (GRCm39) |
S370C |
probably damaging |
Het |
Mtcl1 |
A |
C |
17: 66,655,474 (GRCm39) |
C968G |
probably benign |
Het |
Mylip |
G |
A |
13: 45,562,238 (GRCm39) |
A347T |
probably damaging |
Het |
Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
Ncoa4-ps |
A |
G |
12: 119,226,252 (GRCm39) |
|
noncoding transcript |
Het |
Neu4 |
T |
A |
1: 93,950,200 (GRCm39) |
V53E |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,680,687 (GRCm39) |
I302V |
probably benign |
Het |
Or11i1 |
A |
T |
3: 106,729,576 (GRCm39) |
C100S |
probably damaging |
Het |
Or4c15b |
A |
T |
2: 89,112,811 (GRCm39) |
L243Q |
possibly damaging |
Het |
Otos |
T |
C |
1: 92,572,090 (GRCm39) |
T79A |
probably damaging |
Het |
Pde4a |
T |
C |
9: 21,122,009 (GRCm39) |
I578T |
probably damaging |
Het |
Pramel17 |
T |
A |
4: 101,692,729 (GRCm39) |
M424L |
probably benign |
Het |
Prex2 |
C |
T |
1: 11,240,164 (GRCm39) |
P927S |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,100,116 (GRCm39) |
K1873N |
probably benign |
Het |
Ptk7 |
C |
A |
17: 46,887,417 (GRCm39) |
|
probably null |
Het |
Reln |
T |
A |
5: 22,200,585 (GRCm39) |
|
probably null |
Het |
Rgl2 |
A |
G |
17: 34,151,749 (GRCm39) |
|
probably benign |
Het |
Rnf145 |
T |
A |
11: 44,448,063 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,724,849 (GRCm39) |
E2488G |
probably damaging |
Het |
Snapc4 |
A |
G |
2: 26,259,245 (GRCm39) |
V635A |
probably benign |
Het |
Snx19 |
T |
A |
9: 30,348,763 (GRCm39) |
Y101N |
probably benign |
Het |
Sorl1 |
C |
A |
9: 41,925,746 (GRCm39) |
|
probably null |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Speer4a2 |
A |
T |
5: 26,289,791 (GRCm39) |
I212N |
probably damaging |
Het |
Tmem30b |
G |
A |
12: 73,592,488 (GRCm39) |
P209L |
probably damaging |
Het |
Trbv12-2 |
G |
T |
6: 41,096,081 (GRCm39) |
C52F |
probably damaging |
Het |
Tsc2 |
T |
A |
17: 24,819,343 (GRCm39) |
D1304V |
probably benign |
Het |
Ugt2b36 |
T |
C |
5: 87,214,183 (GRCm39) |
Y487C |
probably damaging |
Het |
Vmn1r10 |
T |
A |
6: 57,090,811 (GRCm39) |
N134K |
probably damaging |
Het |
Wdr27 |
C |
A |
17: 15,141,016 (GRCm39) |
|
probably null |
Het |
Wdr75 |
T |
C |
1: 45,855,638 (GRCm39) |
F430L |
probably damaging |
Het |
Zfp629 |
A |
G |
7: 127,211,299 (GRCm39) |
I170T |
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 |
|
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'- AAACTCTGGCCTACCTGGTCTAG -3'
(R):5'- TTGTTCTCCTGAAACCCATGGAC -3'
Sequencing Primer
(F):5'- GGCCTACCTGGTCTAGACTTTTG -3'
(R):5'- CTGAAACCCATGGACCAGTGG -3'
|
Posted On |
2016-04-15 |