Incidental Mutation 'R0164:Sgo2b'
ID |
24342 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgo2b
|
Ensembl Gene |
ENSMUSG00000094443 |
Gene Name |
shugoshin 2B |
Synonyms |
Gm4975, Sgol2b |
MMRRC Submission |
038440-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R0164 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
8 |
Chromosomal Location |
64377728-64405204 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64391417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 150
(H150R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179944]
|
AlphaFold |
J3QMK1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179944
AA Change: H150R
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000136323 Gene: ENSMUSG00000094443 AA Change: H150R
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
69% (18/26) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
4930522L14Rik |
T |
C |
5: 109,884,713 (GRCm39) |
K382E |
probably damaging |
Het |
Adck1 |
A |
G |
12: 88,422,280 (GRCm39) |
E297G |
probably damaging |
Het |
Aldh3a2 |
C |
T |
11: 61,139,714 (GRCm39) |
V473I |
probably benign |
Het |
Arfgef3 |
A |
T |
10: 18,523,663 (GRCm39) |
I369K |
possibly damaging |
Het |
Atp1b3 |
T |
C |
9: 96,220,762 (GRCm39) |
I178V |
possibly damaging |
Het |
Axdnd1 |
T |
C |
1: 156,205,956 (GRCm39) |
E520G |
possibly damaging |
Het |
BB019430 |
A |
T |
10: 58,540,093 (GRCm39) |
|
noncoding transcript |
Het |
Btbd1 |
T |
A |
7: 81,450,751 (GRCm39) |
Q343L |
probably benign |
Het |
Catsper1 |
A |
G |
19: 5,389,503 (GRCm39) |
T473A |
possibly damaging |
Het |
Ccn4 |
T |
C |
15: 66,791,059 (GRCm39) |
L287P |
probably damaging |
Het |
Chmp6 |
G |
A |
11: 119,806,349 (GRCm39) |
|
probably null |
Het |
Cstdc7 |
T |
A |
18: 42,306,608 (GRCm39) |
D58E |
probably damaging |
Het |
D130040H23Rik |
T |
C |
8: 69,755,195 (GRCm39) |
V200A |
possibly damaging |
Het |
D830013O20Rik |
C |
T |
12: 73,411,105 (GRCm39) |
|
noncoding transcript |
Het |
Dcaf1 |
T |
A |
9: 106,721,344 (GRCm39) |
S379T |
possibly damaging |
Het |
Dhx58 |
T |
C |
11: 100,586,150 (GRCm39) |
I624V |
probably benign |
Het |
Disp3 |
T |
C |
4: 148,338,708 (GRCm39) |
E821G |
probably damaging |
Het |
Dlc1 |
T |
A |
8: 37,066,594 (GRCm39) |
E464V |
probably damaging |
Het |
Dnah10 |
G |
A |
5: 124,860,898 (GRCm39) |
V2151I |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,639 (GRCm39) |
G2617D |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,809,630 (GRCm39) |
E872* |
probably null |
Het |
Dock9 |
T |
C |
14: 121,835,077 (GRCm39) |
Y99C |
probably damaging |
Het |
Dpy19l3 |
T |
A |
7: 35,416,071 (GRCm39) |
I310F |
probably damaging |
Het |
Fggy |
A |
T |
4: 95,725,891 (GRCm39) |
I137F |
probably damaging |
Het |
Gm14012 |
C |
T |
2: 128,079,936 (GRCm39) |
|
noncoding transcript |
Het |
Gm14421 |
A |
T |
2: 176,748,515 (GRCm39) |
|
noncoding transcript |
Het |
Grin2a |
A |
G |
16: 9,812,685 (GRCm39) |
|
probably null |
Het |
Incenp |
A |
G |
19: 9,872,243 (GRCm39) |
S72P |
probably benign |
Het |
Klc3 |
T |
A |
7: 19,128,851 (GRCm39) |
N469Y |
possibly damaging |
Het |
Lrrc42 |
A |
G |
4: 107,104,702 (GRCm39) |
S88P |
probably benign |
Het |
Lrrc49 |
G |
A |
9: 60,587,883 (GRCm39) |
T93I |
probably benign |
Het |
Mlycd |
A |
T |
8: 120,134,380 (GRCm39) |
Q294L |
probably damaging |
Het |
Mrpl22 |
T |
A |
11: 58,062,647 (GRCm39) |
I19N |
probably benign |
Het |
Msh3 |
T |
A |
13: 92,485,717 (GRCm39) |
K202N |
probably damaging |
Het |
Mucl2 |
C |
T |
15: 103,929,445 (GRCm39) |
|
probably null |
Het |
Ncam1 |
C |
T |
9: 49,479,709 (GRCm39) |
D90N |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,952,144 (GRCm39) |
D1405E |
possibly damaging |
Het |
Ncoa2 |
A |
G |
1: 13,256,955 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
A |
T |
11: 71,054,925 (GRCm39) |
W844R |
probably damaging |
Het |
Nmnat1 |
G |
T |
4: 149,553,607 (GRCm39) |
N168K |
possibly damaging |
Het |
Or5b96 |
A |
G |
19: 12,867,809 (GRCm39) |
L44P |
probably damaging |
Het |
Ost4 |
T |
C |
5: 31,064,803 (GRCm39) |
H26R |
probably damaging |
Het |
Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,710,391 (GRCm39) |
I566N |
probably damaging |
Het |
Pcyt1a |
T |
C |
16: 32,289,004 (GRCm39) |
S282P |
probably damaging |
Het |
Prkcg |
G |
A |
7: 3,377,635 (GRCm39) |
E581K |
probably damaging |
Het |
Ralgps2 |
A |
G |
1: 156,714,659 (GRCm39) |
|
probably null |
Het |
Scmh1 |
T |
C |
4: 120,387,062 (GRCm39) |
|
probably benign |
Het |
Sh2b3 |
T |
G |
5: 121,967,100 (GRCm39) |
T5P |
probably damaging |
Het |
Tdp2 |
A |
G |
13: 25,022,222 (GRCm39) |
M214V |
probably damaging |
Het |
Tmem204 |
A |
G |
17: 25,277,324 (GRCm39) |
I187T |
probably damaging |
Het |
Tmem208 |
T |
G |
8: 106,061,326 (GRCm39) |
D117E |
probably benign |
Het |
Tnks1bp1 |
C |
T |
2: 84,889,565 (GRCm39) |
P631S |
possibly damaging |
Het |
Tomm70a |
T |
C |
16: 56,968,184 (GRCm39) |
V517A |
probably damaging |
Het |
Ttc7 |
T |
C |
17: 87,687,323 (GRCm39) |
V801A |
probably damaging |
Het |
Txndc5 |
A |
T |
13: 38,691,929 (GRCm39) |
C146S |
probably damaging |
Het |
Ube4b |
G |
T |
4: 149,444,781 (GRCm39) |
T493K |
probably damaging |
Het |
Ufl1 |
A |
T |
4: 25,256,008 (GRCm39) |
Y504N |
probably benign |
Het |
Ulk3 |
T |
A |
9: 57,497,969 (GRCm39) |
I90N |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,602,174 (GRCm39) |
I1357M |
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vmn2r91 |
A |
C |
17: 18,326,399 (GRCm39) |
N228T |
probably benign |
Het |
Zbtb6 |
G |
T |
2: 37,319,600 (GRCm39) |
Y109* |
probably null |
Het |
Zfp640 |
G |
T |
13: 66,819,062 (GRCm39) |
|
noncoding transcript |
Het |
Zfp640 |
C |
A |
13: 66,819,038 (GRCm39) |
|
noncoding transcript |
Het |
Zfp980 |
A |
G |
4: 145,428,567 (GRCm39) |
D432G |
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 |
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 |
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'- TTCCACCATAGCAGCACAGCTAGG -3'
(R):5'- GCCCAAAGTAAAGGCTGGGTAGTTC -3'
Sequencing Primer
(F):5'- TGAGCCAGTGTCAATCTAGC -3'
(R):5'- GGCCCTGAGTTATTCTTCAGAAATAC -3'
|
Posted On |
2013-04-16 |