Incidental Mutation 'R7713:G2e3'
ID |
594747 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
G2e3
|
Ensembl Gene |
ENSMUSG00000035293 |
Gene Name |
G2/M-phase specific E3 ubiquitin ligase |
Synonyms |
D930034K21Rik, 6030408C04Rik |
MMRRC Submission |
045771-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.689)
|
Stock # |
R7713 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
51395013-51423769 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 51415839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 525
(A525E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113270
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054308]
[ENSMUST00000119211]
[ENSMUST00000121521]
|
AlphaFold |
Q5RJY2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054308
AA Change: A502E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000054474 Gene: ENSMUSG00000035293 AA Change: A502E
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 damaging
Transcript: ENSMUST00000119211
AA Change: A525E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113270 Gene: ENSMUSG00000035293 AA Change: A525E
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 |
unknown
Transcript: ENSMUST00000121521
AA Change: A408E
|
SMART Domains |
Protein: ENSMUSP00000113191 Gene: ENSMUSG00000035293 AA Change: A408E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 87,066,173 (GRCm39) |
S119P |
possibly damaging |
Het |
Agtpbp1 |
T |
A |
13: 59,661,966 (GRCm39) |
I282F |
probably damaging |
Het |
Armh1 |
A |
T |
4: 117,071,425 (GRCm39) |
M355K |
possibly damaging |
Het |
Cep128 |
A |
T |
12: 90,986,096 (GRCm39) |
D1013E |
probably benign |
Het |
Clock |
A |
T |
5: 76,393,267 (GRCm39) |
|
probably null |
Het |
Cspg4b |
T |
G |
13: 113,483,075 (GRCm39) |
V1559G |
|
Het |
D630003M21Rik |
G |
A |
2: 158,058,698 (GRCm39) |
Q401* |
probably null |
Het |
Dnah17 |
C |
A |
11: 117,915,997 (GRCm39) |
V4302L |
probably benign |
Het |
Drc3 |
A |
G |
11: 60,261,386 (GRCm39) |
Y179C |
probably benign |
Het |
Erbb3 |
T |
C |
10: 128,410,318 (GRCm39) |
T647A |
probably benign |
Het |
Esrp2 |
T |
C |
8: 106,860,908 (GRCm39) |
T205A |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,874,872 (GRCm39) |
|
probably null |
Het |
Fmn1 |
C |
T |
2: 113,356,159 (GRCm39) |
P965S |
unknown |
Het |
Fndc7 |
C |
T |
3: 108,777,979 (GRCm39) |
V412M |
possibly damaging |
Het |
Gcfc2 |
C |
T |
6: 81,918,371 (GRCm39) |
R354C |
probably damaging |
Het |
Ggt1 |
T |
A |
10: 75,421,508 (GRCm39) |
N510K |
probably damaging |
Het |
Gnas |
C |
T |
2: 174,140,820 (GRCm39) |
T389I |
unknown |
Het |
Hapln3 |
C |
T |
7: 78,767,121 (GRCm39) |
R306H |
probably benign |
Het |
Hydin |
T |
C |
8: 111,320,444 (GRCm39) |
L4496P |
possibly damaging |
Het |
Iqgap2 |
T |
A |
13: 95,867,952 (GRCm39) |
I219L |
probably benign |
Het |
Kcnj2 |
T |
C |
11: 110,963,309 (GRCm39) |
S234P |
probably benign |
Het |
Lipf |
T |
A |
19: 33,950,465 (GRCm39) |
S286T |
probably damaging |
Het |
Lrrc32 |
G |
T |
7: 98,148,545 (GRCm39) |
G442W |
probably damaging |
Het |
Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
Mtmr4 |
T |
C |
11: 87,488,550 (GRCm39) |
V68A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,055,754 (GRCm39) |
S1146P |
possibly damaging |
Het |
Naa35 |
T |
C |
13: 59,745,919 (GRCm39) |
I75T |
probably benign |
Het |
Nepn |
T |
A |
10: 52,277,274 (GRCm39) |
F337I |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,316,432 (GRCm39) |
M496V |
probably benign |
Het |
Nthl1 |
A |
T |
17: 24,857,631 (GRCm39) |
I277F |
possibly damaging |
Het |
Or10a3 |
A |
C |
7: 108,479,889 (GRCm39) |
I308S |
probably damaging |
Het |
Or4p8 |
T |
C |
2: 88,728,122 (GRCm39) |
|
probably benign |
Het |
Osr1 |
A |
T |
12: 9,629,253 (GRCm39) |
Y42F |
probably damaging |
Het |
Rad54l2 |
G |
A |
9: 106,594,422 (GRCm39) |
R369W |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,465,691 (GRCm39) |
T4828S |
probably benign |
Het |
Slc25a54 |
T |
A |
3: 109,010,133 (GRCm39) |
C211S |
probably damaging |
Het |
Ube4b |
C |
T |
4: 149,483,238 (GRCm39) |
R10Q |
possibly damaging |
Het |
Usp9y |
G |
A |
Y: 1,304,411 (GRCm39) |
Q2440* |
probably null |
Het |
Yars1 |
G |
T |
4: 129,104,291 (GRCm39) |
V312L |
probably benign |
Het |
Zfp26 |
G |
A |
9: 20,352,630 (GRCm39) |
T145I |
probably benign |
Het |
Zic5 |
T |
C |
14: 122,701,525 (GRCm39) |
N402S |
unknown |
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 |
R6625:G2e3
|
UTSW |
12 |
51,400,572 (GRCm39) |
splice site |
probably null |
|
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 |
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'- CTACCCTGTTTTACTAAAGAATTGAGT -3'
(R):5'- GCTTATTCAGGAGAGGTTAACATTTT -3'
Sequencing Primer
(F):5'- ACTGCATCTAGTGAGTCACG -3'
(R):5'- ACCTCTCAAAAGGTGCCT -3'
|
Posted On |
2019-11-12 |