Incidental Mutation 'R5406:G2e3'
| ID |
426293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
G2e3
|
| Ensembl Gene |
ENSMUSG00000035293 |
| Gene Name |
G2/M-phase specific E3 ubiquitin ligase |
| Synonyms |
D930034K21Rik, 6030408C04Rik |
| MMRRC Submission |
042976-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.541)
|
| Stock # |
R5406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
51395013-51423769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51419449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 699
(S699P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021335]
[ENSMUST00000054308]
[ENSMUST00000119211]
[ENSMUST00000121521]
[ENSMUST00000219434]
|
| AlphaFold |
Q5RJY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021335
|
| SMART Domains |
Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
41 |
632 |
1.6e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054308
AA Change: S699P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000054474
Gene: ENSMUSG00000035293
AA Change: S699P
| 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 |
possibly damaging
Transcript: ENSMUST00000119211
AA Change: S722P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113270
Gene: ENSMUSG00000035293
AA Change: S722P
| 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: S605P
|
| SMART Domains |
Protein: ENSMUSP00000113191
Gene: ENSMUSG00000035293
AA Change: S605P
| 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: ENSMUST00000152236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218131
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219799
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219434
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
T |
9: 4,309,387 (GRCm39) |
V17D |
probably damaging |
Het |
| Abcb1a |
C |
A |
5: 8,752,946 (GRCm39) |
Q566K |
probably damaging |
Het |
| Adam26a |
A |
T |
8: 44,022,141 (GRCm39) |
C450S |
probably damaging |
Het |
| Adar |
C |
T |
3: 89,643,418 (GRCm39) |
P433L |
probably damaging |
Het |
| Aldh1a2 |
G |
T |
9: 71,162,403 (GRCm39) |
A151S |
possibly damaging |
Het |
| Arsk |
T |
A |
13: 76,242,066 (GRCm39) |
H69L |
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,872,771 (GRCm39) |
Y600* |
probably null |
Het |
| Blk |
C |
A |
14: 63,618,180 (GRCm39) |
G242V |
probably damaging |
Het |
| Bmt2 |
A |
T |
6: 13,677,831 (GRCm39) |
M1K |
probably null |
Het |
| Catsperg1 |
G |
A |
7: 28,884,948 (GRCm39) |
T891M |
probably damaging |
Het |
| Ccdc32 |
A |
C |
2: 118,852,560 (GRCm39) |
S131A |
possibly damaging |
Het |
| Cdh8 |
A |
G |
8: 99,923,002 (GRCm39) |
V298A |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,837,720 (GRCm39) |
Q1060L |
probably benign |
Het |
| Cfap58 |
G |
A |
19: 48,017,541 (GRCm39) |
M800I |
possibly damaging |
Het |
| Cntn5 |
A |
T |
9: 9,833,465 (GRCm39) |
V362D |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gbp4 |
G |
T |
5: 105,267,387 (GRCm39) |
Q511K |
possibly damaging |
Het |
| Gdap2 |
T |
A |
3: 100,098,991 (GRCm39) |
I361N |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,245,819 (GRCm39) |
H92L |
probably benign |
Het |
| Lipo4 |
A |
G |
19: 33,480,618 (GRCm39) |
V250A |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,604,010 (GRCm39) |
R1055W |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,138 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
A |
G |
9: 7,467,294 (GRCm39) |
E290G |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 171,899,731 (GRCm39) |
V317A |
probably benign |
Het |
| Nfxl1 |
G |
A |
5: 72,713,541 (GRCm39) |
T134I |
possibly damaging |
Het |
| Nup155 |
A |
T |
15: 8,183,122 (GRCm39) |
|
probably null |
Het |
| Nup214 |
C |
A |
2: 31,892,619 (GRCm39) |
P680T |
probably damaging |
Het |
| Or6c212 |
G |
A |
10: 129,558,799 (GRCm39) |
L205F |
probably damaging |
Het |
| Or7h8 |
A |
G |
9: 20,124,454 (GRCm39) |
K270E |
probably benign |
Het |
| Or8b12 |
A |
G |
9: 37,657,943 (GRCm39) |
N171S |
probably benign |
Het |
| Or8b9 |
G |
A |
9: 37,766,515 (GRCm39) |
V134I |
probably benign |
Het |
| Pkd2 |
T |
C |
5: 104,628,198 (GRCm39) |
F424S |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,499,259 (GRCm39) |
D1074G |
probably damaging |
Het |
| Ppm1l |
T |
C |
3: 69,224,927 (GRCm39) |
S10P |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,331,634 (GRCm39) |
H2281R |
probably damaging |
Het |
| Rpa2 |
G |
T |
4: 132,503,559 (GRCm39) |
A3S |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,101,096 (GRCm39) |
V698A |
possibly damaging |
Het |
| Saxo2 |
A |
T |
7: 82,284,586 (GRCm39) |
C91S |
probably benign |
Het |
| Slc3a2 |
T |
C |
19: 8,685,406 (GRCm39) |
D198G |
probably damaging |
Het |
| Spata31d1d |
T |
A |
13: 59,876,592 (GRCm39) |
E314D |
probably benign |
Het |
| Sptlc3 |
T |
C |
2: 139,388,398 (GRCm39) |
V130A |
probably benign |
Het |
| Stpg3 |
C |
A |
2: 25,103,580 (GRCm39) |
E115* |
probably null |
Het |
| Tbcd |
T |
A |
11: 121,342,927 (GRCm39) |
D19E |
probably benign |
Het |
| Xrcc3 |
T |
C |
12: 111,778,545 (GRCm39) |
D2G |
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 |
|
|
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 |
|
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'- CTGCAACAACGATGGAAGATATTC -3'
(R):5'- AGTGGTTCGGAAGCCAAACC -3'
Sequencing Primer
(F):5'- GTAGTTCTGTCCCACCAACTGG -3'
(R):5'- GGAAGCCAAACCATCCCTTTATGAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation