Incidental Mutation 'R7660:Sgo2b'
| ID |
591516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgo2b
|
| Ensembl Gene |
ENSMUSG00000094443 |
| Gene Name |
shugoshin 2B |
| Synonyms |
Gm4975, Sgol2b |
| MMRRC Submission |
045735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R7660 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
64377728-64405204 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64393108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 110
(H110Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179944]
|
| AlphaFold |
J3QMK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179944
AA Change: H110Y
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136323
Gene: ENSMUSG00000094443
AA Change: H110Y
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,512 (GRCm39) |
H142L |
possibly damaging |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,772,689 (GRCm39) |
I64M |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,240,678 (GRCm39) |
E847G |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,006,278 (GRCm39) |
T1276S |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,117,938 (GRCm39) |
|
probably null |
Het |
| Alpk1 |
G |
C |
3: 127,474,616 (GRCm39) |
H462Q |
probably damaging |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atm |
C |
T |
9: 53,356,807 (GRCm39) |
V2815M |
probably benign |
Het |
| Braf |
T |
C |
6: 39,600,575 (GRCm39) |
I681V |
possibly damaging |
Het |
| Casc3 |
C |
G |
11: 98,700,699 (GRCm39) |
R4G |
unknown |
Het |
| Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,874,831 (GRCm39) |
D759G |
probably damaging |
Het |
| Csrp2 |
A |
G |
10: 110,773,624 (GRCm39) |
N103S |
probably benign |
Het |
| Faf1 |
A |
T |
4: 109,719,034 (GRCm39) |
H380L |
probably damaging |
Het |
| Farp1 |
G |
A |
14: 121,514,334 (GRCm39) |
A888T |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,035,309 (GRCm39) |
Q2987L |
probably benign |
Het |
| Fkbp15 |
T |
A |
4: 62,232,578 (GRCm39) |
T665S |
probably benign |
Het |
| Gigyf1 |
T |
C |
5: 137,519,231 (GRCm39) |
S343P |
probably benign |
Het |
| Glrx3 |
A |
G |
7: 137,060,954 (GRCm39) |
Y196C |
probably damaging |
Het |
| Gm3278 |
T |
G |
14: 16,080,387 (GRCm39) |
L66R |
probably damaging |
Het |
| Ifi205 |
A |
G |
1: 173,855,814 (GRCm39) |
V72A |
probably benign |
Het |
| Ift140 |
T |
G |
17: 25,270,798 (GRCm39) |
L708R |
probably damaging |
Het |
| Ints13 |
A |
T |
6: 146,458,836 (GRCm39) |
L328M |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,401,709 (GRCm39) |
I23T |
probably damaging |
Het |
| Ldha |
C |
T |
7: 46,499,681 (GRCm39) |
P100S |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,085,158 (GRCm39) |
L210H |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,829,816 (GRCm39) |
I600L |
probably benign |
Het |
| Map2 |
C |
A |
1: 66,453,536 (GRCm39) |
P809T |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,423,874 (GRCm39) |
C577* |
probably null |
Het |
| Matn2 |
A |
G |
15: 34,403,092 (GRCm39) |
K439R |
probably benign |
Het |
| Mep1a |
C |
T |
17: 43,789,868 (GRCm39) |
G494S |
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,495,406 (GRCm39) |
F488L |
probably damaging |
Het |
| Mtus1 |
G |
T |
8: 41,469,248 (GRCm39) |
T8K |
probably benign |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,384,716 (GRCm39) |
T523A |
possibly damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,911,241 (GRCm39) |
P1334S |
probably benign |
Het |
| Neb |
T |
G |
2: 52,139,451 (GRCm39) |
M119L |
|
Het |
| Nox4 |
T |
C |
7: 87,019,230 (GRCm39) |
Y408H |
probably damaging |
Het |
| Nxpe3 |
C |
T |
16: 55,664,690 (GRCm39) |
R510Q |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,787 (GRCm39) |
T177A |
probably benign |
Het |
| Or4f52 |
C |
T |
2: 111,061,960 (GRCm39) |
M59I |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,041 (GRCm39) |
V143A |
probably benign |
Het |
| Or6c214 |
C |
A |
10: 129,590,432 (GRCm39) |
E296* |
probably null |
Het |
| Or7g23 |
T |
C |
9: 19,086,804 (GRCm39) |
H56R |
probably benign |
Het |
| Or8k31-ps1 |
A |
T |
2: 86,356,174 (GRCm39) |
S116T |
possibly damaging |
Het |
| Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
| Pax8 |
T |
C |
2: 24,326,573 (GRCm39) |
Y263C |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,138,904 (GRCm39) |
Y178N |
probably benign |
Het |
| Pcdhga11 |
C |
T |
18: 37,890,183 (GRCm39) |
T397M |
possibly damaging |
Het |
| Pdlim5 |
G |
T |
3: 141,964,946 (GRCm39) |
H428N |
probably damaging |
Het |
| Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
| Rgs3 |
A |
G |
4: 62,619,349 (GRCm39) |
D478G |
possibly damaging |
Het |
| Scgb2b11 |
C |
T |
7: 31,909,883 (GRCm39) |
E68K |
probably damaging |
Het |
| Sema4b |
C |
A |
7: 79,869,995 (GRCm39) |
Q428K |
probably benign |
Het |
| Semp2l2a |
A |
T |
8: 13,887,995 (GRCm39) |
I32K |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,780,622 (GRCm39) |
T276A |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,954,208 (GRCm39) |
L833S |
probably benign |
Het |
| Slc6a15 |
T |
A |
10: 103,229,241 (GRCm39) |
|
probably null |
Het |
| Srfbp1 |
G |
A |
18: 52,608,671 (GRCm39) |
V24I |
probably damaging |
Het |
| Stpg2 |
A |
T |
3: 139,407,458 (GRCm39) |
N537Y |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,087,782 (GRCm39) |
S1766T |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,532,880 (GRCm39) |
M1K |
probably null |
Het |
| Tmem245 |
A |
T |
4: 56,899,170 (GRCm39) |
I661K |
possibly damaging |
Het |
| Trim5 |
T |
C |
7: 103,928,569 (GRCm39) |
H124R |
probably damaging |
Het |
| Trim67 |
T |
A |
8: 125,547,024 (GRCm39) |
L478Q |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,646,357 (GRCm39) |
D282G |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,905,793 (GRCm39) |
Y579C |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,824,629 (GRCm39) |
D551E |
probably damaging |
Het |
| Vmn1r194 |
T |
C |
13: 22,428,767 (GRCm39) |
V128A |
not run |
Het |
| Vmn2r130 |
T |
A |
17: 23,296,006 (GRCm39) |
D725E |
probably damaging |
Het |
| Vmn2r70 |
T |
G |
7: 85,218,130 (GRCm39) |
N56T |
probably damaging |
Het |
| Wdr95 |
T |
C |
5: 149,517,945 (GRCm39) |
V501A |
possibly damaging |
Het |
| Zc3h8 |
T |
C |
2: 128,772,742 (GRCm39) |
T249A |
probably damaging |
Het |
| Zfp54 |
T |
C |
17: 21,654,501 (GRCm39) |
C332R |
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 |
|
|
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 |
|
|
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'- GGGTGGGTCATGTTCCAAAGAG -3'
(R):5'- TCTCAGTTGAAAACAGTCACCAG -3'
Sequencing Primer
(F):5'- ATCTTACACCCTGATGCT -3'
(R):5'- TTCTAGACCACCTGGGGTTACAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation