Incidental Mutation 'R0285:Sgo2b'
| ID |
65352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgo2b
|
| Ensembl Gene |
ENSMUSG00000094443 |
| Gene Name |
shugoshin 2B |
| Synonyms |
Gm4975, Sgol2b |
| MMRRC Submission |
038506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R0285 (G1)
|
| Quality Score |
122 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
64377728-64405204 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 64381823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 336
(Y336*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179944]
|
| AlphaFold |
J3QMK1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000179944
AA Change: Y336*
|
| SMART Domains |
Protein: ENSMUSP00000136323
Gene: ENSMUSG00000094443
AA Change: Y336*
| 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: ENSMUST00000210516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210915
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.1%
- 20x: 92.9%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy3 |
A |
G |
19: 4,038,193 (GRCm39) |
E162G |
probably benign |
Het |
| Angptl1 |
T |
C |
1: 156,672,785 (GRCm39) |
S204P |
probably benign |
Het |
| Atf6b |
C |
T |
17: 34,869,370 (GRCm39) |
|
probably benign |
Het |
| Card11 |
G |
A |
5: 140,872,856 (GRCm39) |
S619F |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,666,937 (GRCm39) |
G5S |
probably damaging |
Het |
| Ccl11 |
G |
A |
11: 81,953,084 (GRCm39) |
V81I |
probably damaging |
Het |
| Cds1 |
T |
C |
5: 101,944,904 (GRCm39) |
I126T |
probably damaging |
Het |
| Chd1 |
A |
G |
17: 17,594,942 (GRCm39) |
|
probably benign |
Het |
| Cndp1 |
C |
A |
18: 84,636,363 (GRCm39) |
V384F |
possibly damaging |
Het |
| Cuta |
A |
G |
17: 27,158,423 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
G |
A |
14: 87,352,460 (GRCm39) |
T47I |
possibly damaging |
Het |
| Dop1a |
A |
T |
9: 86,394,692 (GRCm39) |
S598C |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,356,770 (GRCm39) |
M217V |
probably benign |
Het |
| Entrep1 |
G |
A |
19: 23,956,749 (GRCm39) |
|
probably benign |
Het |
| Esyt1 |
T |
A |
10: 128,348,087 (GRCm39) |
I898F |
possibly damaging |
Het |
| Fcsk |
G |
C |
8: 111,620,349 (GRCm39) |
H235Q |
probably benign |
Het |
| Fgd3 |
A |
T |
13: 49,417,424 (GRCm39) |
W680R |
possibly damaging |
Het |
| Folh1 |
A |
G |
7: 86,391,373 (GRCm39) |
|
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,859,806 (GRCm39) |
|
probably benign |
Het |
| Garem1 |
A |
G |
18: 21,262,669 (GRCm39) |
M715T |
probably benign |
Het |
| Gpd2 |
A |
T |
2: 57,228,967 (GRCm39) |
D257V |
probably benign |
Het |
| Hdac7 |
A |
G |
15: 97,696,103 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
G |
17: 79,115,882 (GRCm39) |
M858T |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,761,145 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
G |
T |
3: 88,004,297 (GRCm39) |
C461F |
probably benign |
Het |
| Lamb1 |
C |
A |
12: 31,376,644 (GRCm39) |
C559* |
probably null |
Het |
| Lratd2 |
T |
C |
15: 60,694,816 (GRCm39) |
H310R |
probably benign |
Het |
| Lrrc31 |
T |
C |
3: 30,739,097 (GRCm39) |
N308S |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,148,663 (GRCm39) |
Y1222C |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,373,325 (GRCm39) |
R42L |
probably benign |
Het |
| Meioc |
A |
G |
11: 102,563,017 (GRCm39) |
T72A |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mmp11 |
T |
C |
10: 75,761,502 (GRCm39) |
Y366C |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,963,902 (GRCm39) |
D650E |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,257,621 (GRCm39) |
M641V |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nol4l |
G |
A |
2: 153,325,773 (GRCm39) |
|
probably benign |
Het |
| Notch1 |
T |
G |
2: 26,350,873 (GRCm39) |
D2089A |
possibly damaging |
Het |
| Or10q3 |
A |
G |
19: 11,848,502 (GRCm39) |
L26P |
probably damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,398 (GRCm39) |
V30M |
possibly damaging |
Het |
| Or52h2 |
A |
T |
7: 103,838,531 (GRCm39) |
Y294* |
probably null |
Het |
| Or5b24 |
A |
T |
19: 12,912,536 (GRCm39) |
M145L |
probably benign |
Het |
| Or5l13 |
A |
G |
2: 87,780,475 (GRCm39) |
I34T |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,945,706 (GRCm39) |
S161P |
probably benign |
Het |
| Or8d23 |
T |
A |
9: 38,842,070 (GRCm39) |
I201N |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,536,877 (GRCm39) |
|
probably null |
Het |
| Paox |
T |
C |
7: 139,709,053 (GRCm39) |
F324L |
probably damaging |
Het |
| Pycr1 |
A |
T |
11: 120,531,142 (GRCm39) |
I277N |
probably benign |
Het |
| R3hcc1l |
A |
T |
19: 42,564,568 (GRCm39) |
H627L |
probably damaging |
Het |
| Rab21 |
G |
A |
10: 115,126,768 (GRCm39) |
S193L |
probably benign |
Het |
| Ralgds |
T |
G |
2: 28,440,581 (GRCm39) |
|
probably null |
Het |
| Rbm42 |
A |
G |
7: 30,345,265 (GRCm39) |
S169P |
possibly damaging |
Het |
| Rfpl4 |
A |
G |
7: 5,113,377 (GRCm39) |
V262A |
probably benign |
Het |
| Rhobtb3 |
A |
G |
13: 76,025,628 (GRCm39) |
I496T |
possibly damaging |
Het |
| Rnf31 |
G |
A |
14: 55,838,846 (GRCm39) |
A901T |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,731,863 (GRCm39) |
D2359G |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,500 (GRCm39) |
I62L |
probably benign |
Het |
| Slc22a21 |
A |
T |
11: 53,850,022 (GRCm39) |
|
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 56,904,810 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,898,117 (GRCm39) |
I532M |
probably damaging |
Het |
| Spata31f1a |
G |
A |
4: 42,850,236 (GRCm39) |
T640M |
probably benign |
Het |
| Srrm4 |
C |
A |
5: 116,605,848 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
C |
A |
2: 32,713,554 (GRCm39) |
E27D |
probably benign |
Het |
| Sult2a5 |
T |
A |
7: 13,362,685 (GRCm39) |
Y131N |
probably damaging |
Het |
| Svopl |
T |
C |
6: 37,961,457 (GRCm39) |
Q492R |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,224,905 (GRCm39) |
S119P |
probably benign |
Het |
| Tmprss11c |
A |
G |
5: 86,419,289 (GRCm39) |
L90P |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,337,068 (GRCm39) |
D346V |
probably damaging |
Het |
| Ubr4 |
A |
C |
4: 139,168,112 (GRCm39) |
S2820R |
probably damaging |
Het |
| Usp4 |
T |
C |
9: 108,255,763 (GRCm39) |
V607A |
probably benign |
Het |
| Usp45 |
A |
G |
4: 21,798,603 (GRCm39) |
|
probably null |
Het |
| Vill |
C |
T |
9: 118,899,895 (GRCm39) |
|
probably benign |
Het |
| Vmn1r13 |
C |
A |
6: 57,186,979 (GRCm39) |
T46N |
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,873 (GRCm39) |
T63A |
probably benign |
Het |
| Vmn2r82 |
T |
A |
10: 79,232,391 (GRCm39) |
W797R |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,198,800 (GRCm39) |
D287E |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,475,046 (GRCm39) |
L660F |
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 |
|
|
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 |
|
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'- AATACAGTTTGGCTCTTCTGAATCCCC -3'
(R):5'- CTCCGAGTGAGATGAAAACTGGTCC -3'
Sequencing Primer
(F):5'- ATCAGAGCTTGCACCTTTCAC -3'
(R):5'- GGAAGAAGTGTGTGTCTTCAAC -3'
|
| Posted On |
2013-08-08 |
Incidental Mutation