Incidental Mutation 'R4815:Sgo2b'
| ID |
369722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgo2b
|
| Ensembl Gene |
ENSMUSG00000094443 |
| Gene Name |
shugoshin 2B |
| Synonyms |
Gm4975, Sgol2b |
| MMRRC Submission |
042433-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4815 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
64377728-64405204 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64384448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 183
(I183V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179944]
|
| AlphaFold |
J3QMK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179944
AA Change: I183V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136323
Gene: ENSMUSG00000094443
AA Change: I183V
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
96% (76/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
T |
18: 65,483,026 (GRCm39) |
N327K |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,730,410 (GRCm39) |
T675A |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,106,296 (GRCm39) |
T1516A |
probably benign |
Het |
| Asb18 |
A |
T |
1: 89,942,147 (GRCm39) |
N51K |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,088,887 (GRCm39) |
V18A |
probably benign |
Het |
| Caap1 |
A |
G |
4: 94,389,497 (GRCm39) |
V279A |
probably benign |
Het |
| Cacnb2 |
A |
G |
2: 14,879,591 (GRCm39) |
D21G |
probably damaging |
Het |
| Ccdc171 |
T |
C |
4: 83,713,458 (GRCm39) |
S1166P |
probably damaging |
Het |
| Chgb |
A |
T |
2: 132,635,219 (GRCm39) |
H387L |
probably benign |
Het |
| Chp2 |
G |
A |
7: 121,820,123 (GRCm39) |
R91Q |
probably damaging |
Het |
| Chuk |
C |
A |
19: 44,065,686 (GRCm39) |
G703* |
probably null |
Het |
| Clmn |
T |
C |
12: 104,751,825 (GRCm39) |
D210G |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,749,839 (GRCm39) |
V270A |
possibly damaging |
Het |
| Dgcr2 |
A |
G |
16: 17,676,483 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
A |
T |
18: 38,028,256 (GRCm39) |
V411D |
unknown |
Het |
| Dkk2 |
C |
T |
3: 131,879,546 (GRCm39) |
A75V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dnase2a |
T |
C |
8: 85,636,506 (GRCm39) |
V187A |
probably benign |
Het |
| Dusp19 |
A |
G |
2: 80,461,289 (GRCm39) |
M193V |
probably benign |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
T |
16: 36,733,477 (GRCm39) |
Q908L |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,661,660 (GRCm39) |
M119V |
possibly damaging |
Het |
| Ice2 |
C |
T |
9: 69,314,400 (GRCm39) |
R50C |
probably damaging |
Het |
| Ifi208 |
A |
T |
1: 173,510,403 (GRCm39) |
E186V |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,858,517 (GRCm39) |
K166E |
possibly damaging |
Het |
| Jcad |
T |
A |
18: 4,675,223 (GRCm39) |
L995Q |
possibly damaging |
Het |
| Kcnc4 |
A |
T |
3: 107,365,582 (GRCm39) |
C209S |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,732,553 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,980,739 (GRCm39) |
L1465F |
probably benign |
Het |
| Map3k7 |
C |
A |
4: 31,988,592 (GRCm39) |
T247N |
probably damaging |
Het |
| Mctp2 |
T |
G |
7: 71,909,097 (GRCm39) |
Q72P |
possibly damaging |
Het |
| Miga1 |
T |
C |
3: 151,996,443 (GRCm39) |
Y335C |
probably benign |
Het |
| Ms4a14 |
A |
T |
19: 11,291,641 (GRCm39) |
N19K |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,715,295 (GRCm39) |
R541Q |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,659,413 (GRCm39) |
T735A |
probably benign |
Het |
| Nlgn1 |
T |
A |
3: 25,490,194 (GRCm39) |
H511L |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,150,233 (GRCm39) |
E613D |
probably benign |
Het |
| Nuf2 |
A |
G |
1: 169,338,037 (GRCm39) |
S247P |
probably damaging |
Het |
| Ocstamp |
A |
G |
2: 165,240,102 (GRCm39) |
V28A |
probably benign |
Het |
| Odf2 |
A |
C |
2: 29,792,252 (GRCm39) |
E155D |
possibly damaging |
Het |
| Odr4 |
A |
G |
1: 150,250,597 (GRCm39) |
C294R |
probably damaging |
Het |
| Or2ag13 |
G |
A |
7: 106,473,444 (GRCm39) |
P3S |
probably benign |
Het |
| Or8s16 |
T |
C |
15: 98,210,561 (GRCm39) |
N290S |
probably damaging |
Het |
| Otud7a |
T |
C |
7: 63,379,658 (GRCm39) |
|
probably null |
Het |
| Pacsin2 |
A |
T |
15: 83,269,260 (GRCm39) |
D11E |
probably damaging |
Het |
| Pcdhga5 |
G |
A |
18: 37,828,247 (GRCm39) |
V232I |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,940,352 (GRCm39) |
I439T |
possibly damaging |
Het |
| Rag1 |
A |
G |
2: 101,473,861 (GRCm39) |
V427A |
probably damaging |
Het |
| Ranbp10 |
A |
T |
8: 106,552,757 (GRCm39) |
C128* |
probably null |
Het |
| Rbm8a2 |
A |
G |
1: 175,806,024 (GRCm39) |
V151A |
probably damaging |
Het |
| S100pbp |
A |
G |
4: 129,044,726 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Slc25a25 |
A |
T |
2: 32,310,422 (GRCm39) |
D112E |
probably damaging |
Het |
| Slc30a5 |
C |
T |
13: 100,950,218 (GRCm39) |
V103I |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,758,009 (GRCm39) |
I183F |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,613,249 (GRCm39) |
K141N |
unknown |
Het |
| Tbc1d20 |
T |
C |
2: 152,153,909 (GRCm39) |
|
probably benign |
Het |
| Tdpoz6 |
C |
T |
3: 93,599,593 (GRCm39) |
V259M |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,078,759 (GRCm39) |
L1498P |
probably damaging |
Het |
| Tgfbi |
T |
C |
13: 56,779,933 (GRCm39) |
M494T |
probably benign |
Het |
| Tox |
A |
G |
4: 6,823,033 (GRCm39) |
S95P |
probably benign |
Het |
| Tpr |
G |
A |
1: 150,274,359 (GRCm39) |
V163I |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,700,412 (GRCm39) |
S2P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,546,429 (GRCm39) |
M32328T |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,169,040 (GRCm39) |
N289K |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,213,210 (GRCm39) |
A847T |
probably damaging |
Het |
| Xndc1 |
G |
A |
7: 101,722,523 (GRCm39) |
G63R |
probably null |
Het |
| Ythdc2 |
A |
G |
18: 45,018,307 (GRCm39) |
S1330G |
probably benign |
Het |
| Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,677,864 (GRCm39) |
K949N |
probably damaging |
Het |
| Zp3r |
A |
T |
1: 130,526,649 (GRCm39) |
Y185N |
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 |
|
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'- CTGTTTGTACATTGTTGCCCTTAAG -3'
(R):5'- ATAGCTTTCATGCGGAGAGG -3'
Sequencing Primer
(F):5'- CTGAATGACCTGAACCACAT -3'
(R):5'- ACATGCTCATAGCTGCTAGG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation