Incidental Mutation 'IGL02488:Gzme'
ID 295510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gzme
Ensembl Gene ENSMUSG00000022156
Gene Name granzyme E
Synonyms Ctla-6, CCP3, Ctla6, MCSP-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02488
Quality Score
Status
Chromosome 14
Chromosomal Location 56355083-56358082 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56355849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 154 (N154K)
Ref Sequence ENSEMBL: ENSMUSP00000086978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089549]
AlphaFold P08884
Predicted Effect probably benign
Transcript: ENSMUST00000089549
AA Change: N154K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000086978
Gene: ENSMUSG00000022156
AA Change: N154K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 241 9.48e-76 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Akr1d1 A T 6: 37,544,095 (GRCm39) E324D probably benign Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
C8b A G 4: 104,661,278 (GRCm39) H498R probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Enpp7 C A 11: 118,879,640 (GRCm39) T98N probably damaging Het
Fcna A T 2: 25,515,223 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,451 (GRCm39) Y31H probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Incenp A T 19: 9,870,771 (GRCm39) I286N unknown Het
Matn1 G T 4: 130,671,804 (GRCm39) V24F probably benign Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Mpdu1 T C 11: 69,549,435 (GRCm39) T87A probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Scyl1 G T 19: 5,820,341 (GRCm39) Y164* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Tap2 A G 17: 34,433,616 (GRCm39) probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Zfp385a A G 15: 103,228,733 (GRCm39) I42T probably damaging Het
Other mutations in Gzme
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01501:Gzme APN 14 56,356,858 (GRCm39) missense probably damaging 1.00
IGL02282:Gzme APN 14 56,355,826 (GRCm39) missense probably damaging 1.00
IGL02995:Gzme APN 14 56,356,166 (GRCm39) missense probably damaging 1.00
R0711:Gzme UTSW 14 56,355,196 (GRCm39) missense probably damaging 0.97
R1483:Gzme UTSW 14 56,356,169 (GRCm39) missense probably damaging 1.00
R1765:Gzme UTSW 14 56,355,871 (GRCm39) missense probably damaging 1.00
R4827:Gzme UTSW 14 56,356,755 (GRCm39) missense probably null 0.92
R5327:Gzme UTSW 14 56,355,224 (GRCm39) missense probably benign 0.01
R5328:Gzme UTSW 14 56,355,224 (GRCm39) missense probably benign 0.01
R5440:Gzme UTSW 14 56,355,910 (GRCm39) missense possibly damaging 0.52
R6081:Gzme UTSW 14 56,355,764 (GRCm39) missense possibly damaging 0.46
R6573:Gzme UTSW 14 56,356,283 (GRCm39) missense probably benign 0.03
R7525:Gzme UTSW 14 56,356,790 (GRCm39) missense probably benign 0.00
R9246:Gzme UTSW 14 56,356,198 (GRCm39) missense probably benign 0.01
R9399:Gzme UTSW 14 56,355,796 (GRCm39) missense probably damaging 0.99
R9452:Gzme UTSW 14 56,355,854 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16