Incidental Mutation 'R1537:Sgo2b'
| ID |
169602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgo2b
|
| Ensembl Gene |
ENSMUSG00000094443 |
| Gene Name |
shugoshin 2B |
| Synonyms |
Gm4975, Sgol2b |
| MMRRC Submission |
039576-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R1537 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
64377728-64405204 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64379536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1099
(T1099S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179944]
|
| AlphaFold |
J3QMK1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179944
AA Change: T1099S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136323
Gene: ENSMUSG00000094443
AA Change: T1099S
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,372,124 (GRCm39) |
H86L |
possibly damaging |
Het |
| 4930519G04Rik |
A |
G |
5: 115,008,278 (GRCm39) |
T31A |
probably benign |
Het |
| Ahcyl1 |
A |
G |
3: 107,603,505 (GRCm39) |
F30S |
probably benign |
Het |
| Alox5ap |
G |
A |
5: 149,201,993 (GRCm39) |
|
probably null |
Het |
| Amtn |
A |
G |
5: 88,526,729 (GRCm39) |
S53G |
probably null |
Het |
| Arap3 |
A |
T |
18: 38,122,737 (GRCm39) |
|
probably null |
Het |
| Ash1l |
T |
A |
3: 88,979,783 (GRCm39) |
V2769E |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| Bhlha9 |
C |
T |
11: 76,563,457 (GRCm39) |
S28L |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,180,169 (GRCm39) |
Y2150N |
probably damaging |
Het |
| Bmpr2 |
A |
G |
1: 59,907,285 (GRCm39) |
T793A |
probably benign |
Het |
| Ccdc80 |
G |
A |
16: 44,916,299 (GRCm39) |
A352T |
probably benign |
Het |
| Chst2 |
A |
T |
9: 95,288,194 (GRCm39) |
F51I |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,244,163 (GRCm39) |
N412S |
unknown |
Het |
| Dclk2 |
T |
C |
3: 86,713,491 (GRCm39) |
I451V |
probably damaging |
Het |
| Ddb2 |
A |
G |
2: 91,065,234 (GRCm39) |
S64P |
probably benign |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,748,504 (GRCm39) |
E870G |
probably damaging |
Het |
| Dusp4 |
G |
T |
8: 35,285,570 (GRCm39) |
R277L |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,301,931 (GRCm39) |
|
probably null |
Het |
| Gnpat |
A |
G |
8: 125,597,555 (GRCm39) |
E39G |
probably damaging |
Het |
| Golgb1 |
A |
T |
16: 36,719,150 (GRCm39) |
Q352L |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,345,096 (GRCm39) |
D803G |
probably benign |
Het |
| Hps1 |
A |
G |
19: 42,748,143 (GRCm39) |
|
probably null |
Het |
| Ilvbl |
G |
A |
10: 78,415,565 (GRCm39) |
R327H |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,333,121 (GRCm39) |
D1911G |
possibly damaging |
Het |
| Lmo7 |
T |
A |
14: 102,166,700 (GRCm39) |
|
probably benign |
Het |
| Mcm10 |
G |
A |
2: 5,003,591 (GRCm39) |
T542I |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,051,772 (GRCm39) |
V497A |
probably damaging |
Het |
| Mn1 |
G |
A |
5: 111,602,646 (GRCm39) |
A1295T |
probably damaging |
Het |
| Myh7b |
A |
C |
2: 155,473,707 (GRCm39) |
D1580A |
probably damaging |
Het |
| Naa20 |
A |
G |
2: 145,754,438 (GRCm39) |
I101V |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,702,846 (GRCm39) |
Y229C |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,891,575 (GRCm39) |
R6986G |
unknown |
Het |
| Or51h7 |
G |
A |
7: 102,591,547 (GRCm39) |
T79I |
probably damaging |
Het |
| Or8b4 |
A |
G |
9: 37,830,570 (GRCm39) |
I211V |
probably benign |
Het |
| P2rx3 |
A |
G |
2: 84,853,825 (GRCm39) |
|
probably null |
Het |
| Pcdhac2 |
G |
A |
18: 37,279,539 (GRCm39) |
G840R |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,762,489 (GRCm39) |
N3654S |
unknown |
Het |
| Pcnx2 |
T |
A |
8: 126,604,188 (GRCm39) |
E689D |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,804,464 (GRCm39) |
S532P |
probably benign |
Het |
| Phf1 |
G |
A |
17: 27,154,372 (GRCm39) |
|
probably null |
Het |
| Pkp4 |
G |
A |
2: 59,045,147 (GRCm39) |
V41M |
probably damaging |
Het |
| Prlr |
T |
G |
15: 10,328,364 (GRCm39) |
|
probably null |
Het |
| Prr12 |
G |
T |
7: 44,678,366 (GRCm39) |
A1954D |
unknown |
Het |
| Prtg |
A |
G |
9: 72,717,039 (GRCm39) |
T127A |
probably benign |
Het |
| Ptprh |
A |
G |
7: 4,552,698 (GRCm39) |
L884P |
probably damaging |
Het |
| Rnf170 |
T |
A |
8: 26,629,076 (GRCm39) |
D183E |
probably benign |
Het |
| Rrp12 |
A |
T |
19: 41,875,242 (GRCm39) |
H339Q |
probably damaging |
Het |
| Rubcnl |
T |
G |
14: 75,278,267 (GRCm39) |
S350R |
possibly damaging |
Het |
| Ska2 |
T |
C |
11: 87,006,945 (GRCm39) |
S17P |
probably damaging |
Het |
| Slc38a2 |
A |
G |
15: 96,591,034 (GRCm39) |
I243T |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,916,034 (GRCm39) |
D2007E |
possibly damaging |
Het |
| Taar5 |
T |
A |
10: 23,846,620 (GRCm39) |
L6H |
probably benign |
Het |
| Tbata |
G |
T |
10: 61,019,270 (GRCm39) |
|
probably null |
Het |
| Tent2 |
C |
T |
13: 93,312,076 (GRCm39) |
G208D |
probably damaging |
Het |
| Tmem107 |
T |
C |
11: 68,963,284 (GRCm39) |
S98P |
probably damaging |
Het |
| Tpst2 |
A |
G |
5: 112,456,286 (GRCm39) |
D275G |
possibly damaging |
Het |
| Ttc28 |
G |
T |
5: 111,433,184 (GRCm39) |
G2073W |
probably damaging |
Het |
| Ttc7 |
T |
C |
17: 87,629,891 (GRCm39) |
V291A |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,792,327 (GRCm39) |
N2198K |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,887,039 (GRCm39) |
D249E |
probably benign |
Het |
| Xirp2 |
G |
T |
2: 67,340,357 (GRCm39) |
C866F |
probably damaging |
Het |
| Zfp990 |
A |
G |
4: 145,263,566 (GRCm39) |
E188G |
possibly damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,099,064 (GRCm39) |
S43P |
possibly damaging |
Het |
| Zscan5b |
A |
G |
7: 6,236,850 (GRCm39) |
R200G |
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 |
|
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'- ATATAAGCTGCTGGACTGAGCCCC -3'
(R):5'- GTTGACTCCCAACAGACTGAGAAGG -3'
Sequencing Primer
(F):5'- TGAGCCCCACTCTTATAAAACTTG -3'
(R):5'- AGCCAGACTTCTGTATGAAGGTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation