Incidental Mutation 'R9249:Sgo2b'
| ID |
701434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgo2b
|
| Ensembl Gene |
ENSMUSG00000094443 |
| Gene Name |
shugoshin 2B |
| Synonyms |
Gm4975, Sgol2b |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R9249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
64377728-64405204 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 64391407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 153
(Y153*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179944]
|
| AlphaFold |
J3QMK1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000179944
AA Change: Y153*
|
| SMART Domains |
Protein: ENSMUSP00000136323
Gene: ENSMUSG00000094443
AA Change: Y153*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,220,165 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,733,690 (GRCm39) |
F1650S |
probably damaging |
Het |
| Bscl2 |
A |
T |
19: 8,820,378 (GRCm39) |
D133V |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,590,288 (GRCm39) |
Y1564C |
|
Het |
| Ccdc182 |
T |
C |
11: 88,185,178 (GRCm39) |
V86A |
probably benign |
Het |
| Cd44 |
T |
G |
2: 102,661,747 (GRCm39) |
T616P |
possibly damaging |
Het |
| Cep152 |
C |
T |
2: 125,405,904 (GRCm39) |
E1543K |
probably benign |
Het |
| Chpf2 |
C |
A |
5: 24,794,235 (GRCm39) |
T135K |
probably damaging |
Het |
| Cntn4 |
C |
T |
6: 106,466,722 (GRCm39) |
P208L |
possibly damaging |
Het |
| Col6a3 |
T |
A |
1: 90,707,020 (GRCm39) |
Y2638F |
unknown |
Het |
| Csmd2 |
C |
A |
4: 128,313,323 (GRCm39) |
Y1333* |
probably null |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
| Dbndd2 |
T |
C |
2: 164,328,077 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,869,427 (GRCm39) |
K280R |
probably damaging |
Het |
| Egfl8 |
C |
A |
17: 34,833,491 (GRCm39) |
A133S |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,703,915 (GRCm39) |
H1475R |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,107,989 (GRCm39) |
L522P |
probably damaging |
Het |
| Gzmd |
T |
G |
14: 56,368,790 (GRCm39) |
M35L |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,762,890 (GRCm39) |
L873Q |
probably damaging |
Het |
| Hsd3b6 |
T |
C |
3: 98,713,679 (GRCm39) |
K207E |
probably benign |
Het |
| Ikbkb |
T |
A |
8: 23,171,735 (GRCm39) |
K171* |
probably null |
Het |
| Il21 |
T |
A |
3: 37,279,677 (GRCm39) |
|
probably null |
Het |
| Itga1 |
T |
C |
13: 115,185,834 (GRCm39) |
N56S |
probably damaging |
Het |
| Map1lc3b |
T |
C |
8: 122,322,833 (GRCm39) |
|
probably null |
Het |
| Mapk13 |
A |
G |
17: 28,988,490 (GRCm39) |
Y36C |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,975,855 (GRCm39) |
P296S |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
| Myot |
T |
C |
18: 44,479,265 (GRCm39) |
V334A |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,186,988 (GRCm39) |
E12G |
unknown |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nphs2 |
G |
A |
1: 156,144,416 (GRCm39) |
R140Q |
probably damaging |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Nvl |
A |
G |
1: 180,962,593 (GRCm39) |
Y126H |
probably damaging |
Het |
| Or1j14 |
T |
C |
2: 36,417,559 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5w1 |
A |
T |
2: 87,486,660 (GRCm39) |
F202I |
probably benign |
Het |
| Or8g29-ps1 |
T |
A |
9: 39,200,602 (GRCm39) |
N195Y |
unknown |
Het |
| Or8g36 |
A |
T |
9: 39,422,149 (GRCm39) |
I289N |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,122,012 (GRCm39) |
D651E |
probably benign |
Het |
| Papola |
T |
A |
12: 105,799,403 (GRCm39) |
H677Q |
probably benign |
Het |
| Pcbp3 |
T |
C |
10: 76,635,377 (GRCm39) |
S59G |
probably benign |
Het |
| Pkd1l2 |
T |
A |
8: 117,746,159 (GRCm39) |
I1944F |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Polb |
A |
T |
8: 23,143,084 (GRCm39) |
N37K |
probably benign |
Het |
| Ppfia2 |
T |
C |
10: 106,749,429 (GRCm39) |
V1105A |
probably damaging |
Het |
| Ric3 |
C |
T |
7: 108,647,212 (GRCm39) |
D204N |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,914,456 (GRCm39) |
D1154G |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,129,550 (GRCm39) |
N1590K |
probably damaging |
Het |
| Sec31a |
C |
A |
5: 100,533,083 (GRCm39) |
R163L |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Serpina3i |
C |
T |
12: 104,231,728 (GRCm39) |
Q122* |
probably null |
Het |
| Sgsm1 |
T |
A |
5: 113,428,201 (GRCm39) |
H329L |
possibly damaging |
Het |
| Sh3tc2 |
A |
C |
18: 62,107,598 (GRCm39) |
N203T |
possibly damaging |
Het |
| Skint8 |
C |
A |
4: 111,794,159 (GRCm39) |
T183K |
probably damaging |
Het |
| Slc6a20a |
T |
C |
9: 123,507,941 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,891,156 (GRCm39) |
F732S |
probably damaging |
Het |
| Spata16 |
T |
C |
3: 26,787,030 (GRCm39) |
V236A |
possibly damaging |
Het |
| Stard5 |
A |
G |
7: 83,281,253 (GRCm39) |
D2G |
probably damaging |
Het |
| Stk25 |
T |
C |
1: 93,552,806 (GRCm39) |
S328G |
probably benign |
Het |
| Tmem39b |
A |
T |
4: 129,572,468 (GRCm39) |
M378K |
probably damaging |
Het |
| Tspan10 |
T |
C |
11: 120,337,051 (GRCm39) |
F274L |
probably benign |
Het |
| Tssk1 |
A |
T |
16: 17,712,724 (GRCm39) |
I170L |
probably benign |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,760 (GRCm39) |
R141G |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 101,996,359 (GRCm39) |
S3168P |
possibly damaging |
Het |
| Zfp458 |
T |
A |
13: 67,405,218 (GRCm39) |
H407L |
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 |
|
|
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 |
|
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'- AGTGTCAATCTAGCCCAGGTAAC -3'
(R):5'- ATGGGGCCCTGAGTTATTCTTC -3'
Sequencing Primer
(F):5'- CCAGGTAACTAAAGGTGTACT -3'
(R):5'- GGCCCTGAGTTATTCTTCAGAAATAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation