Incidental Mutation 'IGL00793:G2e3'
ID12626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol G2e3
Ensembl Gene ENSMUSG00000035293
Gene NameG2/M-phase specific E3 ubiquitin ligase
Synonyms6030408C04Rik, D930034K21Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.734) question?
Stock #IGL00793
Quality Score
Status
Chromosome12
Chromosomal Location51348061-51376986 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 51367762 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 340 (S340T)
Ref Sequence ENSEMBL: ENSMUSP00000113191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054308] [ENSMUST00000119211] [ENSMUST00000121521]
Predicted Effect probably benign
Transcript: ENSMUST00000054308
SMART Domains Protein: ENSMUSP00000054474
Gene: ENSMUSG00000035293

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000119211
SMART Domains Protein: ENSMUSP00000113270
Gene: ENSMUSG00000035293

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000121521
AA Change: S340T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113191
Gene: ENSMUSG00000035293
AA Change: S340T

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152236
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,397,406 D236G probably damaging Het
5031410I06Rik T C 5: 26,104,155 R50G probably damaging Het
Adam32 A T 8: 24,837,830 probably benign Het
Adm A G 7: 110,628,581 Y52C probably damaging Het
Aff4 A G 11: 53,411,990 T1097A probably damaging Het
Ccne1 A C 7: 38,106,301 V50G probably benign Het
Copb2 A G 9: 98,585,004 T636A probably benign Het
Cxadr C A 16: 78,334,227 Y210* probably null Het
Dnajc17 T C 2: 119,180,960 E163G probably benign Het
Dnmt3b T A 2: 153,672,502 M405K possibly damaging Het
Enpp7 A T 11: 118,990,545 N172I probably damaging Het
Kat2b A G 17: 53,665,824 N722S probably benign Het
Kcnh5 C A 12: 75,114,346 V263F probably damaging Het
Ldlrad1 A G 4: 107,217,889 D211G probably damaging Het
Lrp1 A G 10: 127,542,205 V4082A possibly damaging Het
Mycbp2 A T 14: 103,126,753 V4370D possibly damaging Het
Npsr1 G T 9: 24,254,693 R125L probably damaging Het
Osbpl9 T C 4: 109,087,431 I116V probably damaging Het
Parp4 G T 14: 56,602,877 A580S possibly damaging Het
Pfkm T C 15: 98,125,594 V391A probably benign Het
Psen1 T A 12: 83,723,018 S170T probably damaging Het
Rsbn1l C T 5: 20,896,155 V796I probably benign Het
Slc39a8 A G 3: 135,884,733 I396V probably benign Het
Spag16 T C 1: 70,299,650 C436R probably damaging Het
Stpg1 A G 4: 135,506,407 probably benign Het
Tmem57 A G 4: 134,828,206 S319P probably damaging Het
Tmem86b A G 7: 4,628,757 probably benign Het
Trf A G 9: 103,226,143 probably benign Het
Trim61 A T 8: 65,014,091 Y173N possibly damaging Het
Wrap73 T C 4: 154,152,639 S228P probably damaging Het
Zfc3h1 T C 10: 115,416,874 V1364A probably benign Het
Other mutations in G2e3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:G2e3 APN 12 51353798 critical splice acceptor site probably null
IGL02222:G2e3 APN 12 51363233 missense probably damaging 1.00
IGL02335:G2e3 APN 12 51369158 missense probably benign 0.19
IGL03134:G2e3 APN 12 51364030 intron probably benign
Amadeus UTSW 12 51353789 splice site probably null
R1868:G2e3 UTSW 12 51353629 missense probably benign 0.44
R2060:G2e3 UTSW 12 51372606 missense probably damaging 1.00
R3814:G2e3 UTSW 12 51353661 missense probably benign 0.28
R4355:G2e3 UTSW 12 51365337 missense probably benign 0.00
R4360:G2e3 UTSW 12 51363414 splice site probably benign
R4903:G2e3 UTSW 12 51371630 missense probably benign 0.23
R4966:G2e3 UTSW 12 51371630 missense probably benign 0.23
R4974:G2e3 UTSW 12 51369139 missense probably benign 0.00
R5399:G2e3 UTSW 12 51357194 critical splice donor site probably null
R5406:G2e3 UTSW 12 51372666 missense probably damaging 0.97
R5739:G2e3 UTSW 12 51372504 missense possibly damaging 0.94
R6225:G2e3 UTSW 12 51369136 missense possibly damaging 0.77
R6625:G2e3 UTSW 12 51353789 splice site probably null
R7458:G2e3 UTSW 12 51365507 missense possibly damaging 0.67
R7529:G2e3 UTSW 12 51371604 missense probably damaging 1.00
R7713:G2e3 UTSW 12 51369056 missense probably damaging 0.99
R7748:G2e3 UTSW 12 51371667 missense probably benign 0.00
R7998:G2e3 UTSW 12 51353841 missense probably benign 0.04
Posted On2012-12-06