Incidental Mutation 'IGL02222:G2e3'
| ID |
285194 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
G2e3
|
| Ensembl Gene |
ENSMUSG00000035293 |
| Gene Name |
G2/M-phase specific E3 ubiquitin ligase |
| Synonyms |
D930034K21Rik, 6030408C04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.689)
|
| Stock # |
IGL02222
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
51395013-51423769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51410016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 267
(H267R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054308]
[ENSMUST00000119211]
[ENSMUST00000121521]
|
| AlphaFold |
Q5RJY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054308
AA Change: H267R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054474
Gene: ENSMUSG00000035293
AA Change: H267R
| 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: H267R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113270
Gene: ENSMUSG00000035293
AA Change: H267R
| 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 damaging
Transcript: ENSMUST00000121521
AA Change: H267R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113191
Gene: ENSMUSG00000035293
AA Change: H267R
| 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
|
| Coding Region Coverage |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,322,045 (GRCm39) |
R1682W |
probably benign |
Het |
| Angptl6 |
A |
T |
9: 20,785,203 (GRCm39) |
M450K |
probably damaging |
Het |
| Armc12 |
C |
A |
17: 28,757,694 (GRCm39) |
N275K |
probably damaging |
Het |
| Cd27 |
T |
C |
6: 125,211,495 (GRCm39) |
H144R |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,641 (GRCm39) |
K1880E |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,414,094 (GRCm39) |
I907N |
probably damaging |
Het |
| Dpy19l4 |
A |
C |
4: 11,281,116 (GRCm39) |
F443C |
possibly damaging |
Het |
| Eif3i |
C |
T |
4: 129,485,881 (GRCm39) |
D315N |
possibly damaging |
Het |
| Fam217a |
A |
G |
13: 35,095,102 (GRCm39) |
L128P |
probably damaging |
Het |
| Fetub |
C |
T |
16: 22,751,078 (GRCm39) |
L62F |
probably damaging |
Het |
| Fmn1 |
A |
T |
2: 113,423,454 (GRCm39) |
I1047F |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,338,585 (GRCm39) |
|
probably null |
Het |
| Gm10650 |
T |
C |
3: 127,833,789 (GRCm39) |
|
noncoding transcript |
Het |
| Grip1 |
C |
T |
10: 119,835,714 (GRCm39) |
T470I |
probably damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,682,152 (GRCm39) |
D466A |
probably benign |
Het |
| Lrrc63 |
T |
C |
14: 75,323,580 (GRCm39) |
Y548C |
probably damaging |
Het |
| Naaa |
T |
C |
5: 92,407,409 (GRCm39) |
|
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,975,947 (GRCm39) |
E55D |
possibly damaging |
Het |
| Pnpt1 |
A |
T |
11: 29,109,327 (GRCm39) |
D691V |
possibly damaging |
Het |
| Pnpt1 |
G |
A |
11: 29,080,842 (GRCm39) |
A29T |
probably benign |
Het |
| Pramel11 |
A |
G |
4: 143,622,416 (GRCm39) |
M313T |
possibly damaging |
Het |
| Psg25 |
T |
C |
7: 18,263,652 (GRCm39) |
N57S |
probably damaging |
Het |
| Selenbp2 |
T |
A |
3: 94,607,269 (GRCm39) |
V168E |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,999,617 (GRCm39) |
E2337K |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,087,755 (GRCm39) |
T1269A |
probably benign |
Het |
| Tent5b |
T |
C |
4: 133,213,864 (GRCm39) |
V245A |
probably damaging |
Het |
| Tnfrsf13c |
C |
A |
15: 82,107,364 (GRCm39) |
V144L |
probably damaging |
Het |
| Uspl1 |
G |
T |
5: 149,130,854 (GRCm39) |
V132L |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,449 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,659,539 (GRCm39) |
T1663S |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,975,902 (GRCm39) |
R503H |
possibly 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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation