Incidental Mutation 'R6625:G2e3'
ID |
526322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
G2e3
|
Ensembl Gene |
ENSMUSG00000035293 |
Gene Name |
G2/M-phase specific E3 ubiquitin ligase |
Synonyms |
D930034K21Rik, 6030408C04Rik |
MMRRC Submission |
044747-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.689)
|
Stock # |
R6625 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
51395013-51423769 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 51400572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113191
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054308]
[ENSMUST00000119211]
[ENSMUST00000121521]
|
AlphaFold |
Q5RJY2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000054308
|
SMART Domains |
Protein: ENSMUSP00000054474 Gene: ENSMUSG00000035293
Domain | Start | End | E-Value | Type |
SCOP:d1bqk__
|
2 |
74 |
1e-2 |
SMART |
PHD
|
80 |
128 |
5.2e-3 |
SMART |
RING
|
81 |
115 |
5.28e0 |
SMART |
PHD
|
143 |
193 |
3.13e0 |
SMART |
RING
|
144 |
192 |
4.48e-1 |
SMART |
PHD
|
237 |
286 |
1.18e1 |
SMART |
Pfam:HECT
|
402 |
692 |
2.7e-16 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000119211
|
SMART Domains |
Protein: ENSMUSP00000113270 Gene: ENSMUSG00000035293
Domain | Start | End | E-Value | Type |
SCOP:d1bqk__
|
2 |
74 |
9e-3 |
SMART |
PHD
|
80 |
128 |
5.2e-3 |
SMART |
RING
|
81 |
115 |
5.28e0 |
SMART |
PHD
|
143 |
193 |
3.13e0 |
SMART |
RING
|
144 |
192 |
4.48e-1 |
SMART |
PHD
|
237 |
286 |
1.18e1 |
SMART |
Pfam:HECT
|
383 |
717 |
3.1e-13 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121521
|
SMART Domains |
Protein: ENSMUSP00000113191 Gene: ENSMUSG00000035293
Domain | Start | End | E-Value | Type |
SCOP:d1bqk__
|
2 |
74 |
9e-3 |
SMART |
PHD
|
80 |
128 |
5.2e-3 |
SMART |
RING
|
81 |
115 |
5.28e0 |
SMART |
PHD
|
143 |
193 |
3.13e0 |
SMART |
RING
|
144 |
192 |
4.48e-1 |
SMART |
PHD
|
237 |
286 |
1.18e1 |
SMART |
Pfam:HECT
|
298 |
598 |
4e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144767
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
91% (30/33) |
MGI Phenotype |
PHENOTYPE: Embryos homozygous for a gene trap allele that inactivates this gene die prior to implantation due to massive apoptosis which results in involution of the blastocyst. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Apcdd1 |
C |
A |
18: 63,084,929 (GRCm39) |
D375E |
probably damaging |
Het |
Cacna2d1 |
A |
T |
5: 16,567,391 (GRCm39) |
R984W |
probably null |
Het |
Csmd3 |
T |
G |
15: 47,470,471 (GRCm39) |
I3402L |
probably benign |
Het |
Dnah7a |
T |
A |
1: 53,604,916 (GRCm39) |
T1281S |
probably benign |
Het |
Dnmt3b |
T |
C |
2: 153,507,233 (GRCm39) |
I139T |
probably benign |
Het |
Dtnbp1 |
T |
C |
13: 45,145,507 (GRCm39) |
E40G |
possibly damaging |
Het |
Fam162b |
C |
T |
10: 51,466,391 (GRCm39) |
G43R |
probably damaging |
Het |
Kiss1r |
G |
A |
10: 79,755,368 (GRCm39) |
V118I |
possibly damaging |
Het |
Mre11a |
T |
C |
9: 14,716,687 (GRCm39) |
M294T |
possibly damaging |
Het |
Muc16 |
A |
T |
9: 18,571,574 (GRCm39) |
V315D |
unknown |
Het |
Nelfe |
C |
T |
17: 35,073,334 (GRCm39) |
P290S |
probably benign |
Het |
Or2v2 |
T |
A |
11: 49,003,896 (GRCm39) |
Y219F |
probably damaging |
Het |
Or5a3 |
T |
G |
19: 12,400,205 (GRCm39) |
H177Q |
probably damaging |
Het |
Pcolce2 |
T |
A |
9: 95,560,492 (GRCm39) |
C180* |
probably null |
Het |
Piezo2 |
A |
T |
18: 63,154,333 (GRCm39) |
V2482D |
probably damaging |
Het |
Plagl1 |
T |
C |
10: 13,003,806 (GRCm39) |
|
probably benign |
Het |
Pramel31 |
T |
A |
4: 144,090,369 (GRCm39) |
Y470N |
probably damaging |
Het |
Pramel57 |
C |
T |
5: 95,669,342 (GRCm39) |
H124Y |
possibly damaging |
Het |
Prss48 |
G |
T |
3: 85,905,373 (GRCm39) |
Q167K |
probably benign |
Het |
Saxo4 |
G |
A |
19: 10,459,100 (GRCm39) |
P65L |
probably damaging |
Het |
Scyl1 |
C |
A |
19: 5,810,854 (GRCm39) |
V488F |
probably damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,372,594 (GRCm39) |
L587Q |
possibly damaging |
Het |
Sim1 |
A |
G |
10: 50,860,082 (GRCm39) |
D648G |
probably benign |
Het |
Snupn |
G |
A |
9: 56,890,054 (GRCm39) |
V292I |
probably benign |
Het |
St6galnac1 |
T |
C |
11: 116,656,717 (GRCm39) |
H474R |
probably damaging |
Het |
Thap12 |
G |
A |
7: 98,365,277 (GRCm39) |
V482I |
probably benign |
Het |
Usp13 |
T |
A |
3: 32,949,025 (GRCm39) |
V454D |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,894,935 (GRCm39) |
I862V |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,693,177 (GRCm39) |
F474L |
probably benign |
Het |
Zbtb38 |
T |
C |
9: 96,569,366 (GRCm39) |
R573G |
probably damaging |
Het |
Zfp493 |
C |
T |
13: 67,934,514 (GRCm39) |
Q156* |
probably null |
Het |
Zfp873 |
C |
A |
10: 81,896,138 (GRCm39) |
P290T |
probably damaging |
Het |
|
Other mutations in G2e3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00500:G2e3
|
APN |
12 |
51,400,581 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL00793:G2e3
|
APN |
12 |
51,414,545 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02222:G2e3
|
APN |
12 |
51,410,016 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02335:G2e3
|
APN |
12 |
51,415,941 (GRCm39) |
missense |
probably benign |
0.19 |
IGL03134:G2e3
|
APN |
12 |
51,410,813 (GRCm39) |
intron |
probably benign |
|
Amadeus
|
UTSW |
12 |
51,400,572 (GRCm39) |
splice site |
probably null |
|
theophilus
|
UTSW |
12 |
51,403,928 (GRCm39) |
nonsense |
probably null |
|
R1868:G2e3
|
UTSW |
12 |
51,400,412 (GRCm39) |
missense |
probably benign |
0.44 |
R2060:G2e3
|
UTSW |
12 |
51,419,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R3814:G2e3
|
UTSW |
12 |
51,400,444 (GRCm39) |
missense |
probably benign |
0.28 |
R4355:G2e3
|
UTSW |
12 |
51,412,120 (GRCm39) |
missense |
probably benign |
0.00 |
R4360:G2e3
|
UTSW |
12 |
51,410,197 (GRCm39) |
splice site |
probably benign |
|
R4903:G2e3
|
UTSW |
12 |
51,418,413 (GRCm39) |
missense |
probably benign |
0.23 |
R4966:G2e3
|
UTSW |
12 |
51,418,413 (GRCm39) |
missense |
probably benign |
0.23 |
R4974:G2e3
|
UTSW |
12 |
51,415,922 (GRCm39) |
missense |
probably benign |
0.00 |
R5399:G2e3
|
UTSW |
12 |
51,403,977 (GRCm39) |
critical splice donor site |
probably null |
|
R5406:G2e3
|
UTSW |
12 |
51,419,449 (GRCm39) |
missense |
probably damaging |
0.97 |
R5739:G2e3
|
UTSW |
12 |
51,419,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6225:G2e3
|
UTSW |
12 |
51,415,919 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7458:G2e3
|
UTSW |
12 |
51,412,290 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7529:G2e3
|
UTSW |
12 |
51,418,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R7713:G2e3
|
UTSW |
12 |
51,415,839 (GRCm39) |
missense |
probably damaging |
0.99 |
R7748:G2e3
|
UTSW |
12 |
51,418,450 (GRCm39) |
missense |
probably benign |
0.00 |
R7998:G2e3
|
UTSW |
12 |
51,400,624 (GRCm39) |
missense |
probably benign |
0.04 |
R8972:G2e3
|
UTSW |
12 |
51,410,277 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9330:G2e3
|
UTSW |
12 |
51,403,928 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCACATACACTTAGGAGAAGC -3'
(R):5'- GACTGACTGAAGAACCCTCC -3'
Sequencing Primer
(F):5'- ACTTAGGAGAAGCACTAATCCTATAC -3'
(R):5'- TGACTGAAGAACCCTCCCAAGG -3'
|
Posted On |
2018-06-22 |