Incidental Mutation 'IGL02488:Gzme'
ID295510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gzme
Ensembl Gene ENSMUSG00000022156
Gene Namegranzyme E
SynonymsCtla6, MCSP-2, Ctla-6, CCP3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL02488
Quality Score
Status
Chromosome14
Chromosomal Location56117626-56120625 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 56118392 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 154 (N154K)
Ref Sequence ENSEMBL: ENSMUSP00000086978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089549]
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: 24,792,006 D417N probably damaging Het
Akr1d1 A T 6: 37,567,160 E324D probably benign Het
Ankrd34a A G 3: 96,598,913 I478V probably benign Het
C8b A G 4: 104,804,081 H498R probably benign Het
Cct6a T G 5: 129,789,821 probably benign Het
Enpp7 C A 11: 118,988,814 T98N probably damaging Het
Fcna A T 2: 25,625,211 probably null Het
Gtdc1 A G 2: 44,825,439 Y31H probably benign Het
Hectd4 T C 5: 121,292,087 V849A probably benign Het
Hps1 C T 19: 42,757,788 probably benign Het
Incenp A T 19: 9,893,407 I286N unknown Het
Matn1 G T 4: 130,944,493 V24F probably benign Het
Mcm3ap A G 10: 76,499,649 T1302A probably damaging Het
Megf10 A G 18: 57,292,632 Y1030C probably damaging Het
Mpdu1 T C 11: 69,658,609 T87A probably damaging Het
Olfr347 T A 2: 36,734,350 S10T probably benign Het
Olfr648 T A 7: 104,180,271 I46F possibly damaging Het
Pde6h A G 6: 136,963,266 probably null Het
Pkhd1l1 A G 15: 44,558,597 I3088V probably benign Het
Plec G T 15: 76,179,159 T2259K possibly damaging Het
Ptch2 C T 4: 117,110,396 R754C probably damaging Het
Ptpn12 T C 5: 21,022,062 T81A possibly damaging Het
Sars2 C T 7: 28,742,160 R49* probably null Het
Scyl1 G T 19: 5,770,313 Y164* probably null Het
Smarcd1 T C 15: 99,711,201 C419R possibly damaging Het
Syne2 C A 12: 75,965,738 R2568S probably benign Het
Tap2 A G 17: 34,214,642 probably benign Het
Thrb T A 14: 18,033,455 I406K probably damaging Het
Tnn T A 1: 160,140,593 I410F probably benign Het
Tns2 T C 15: 102,112,743 S940P probably benign Het
Trav6-2 A G 14: 52,667,786 K88R probably benign Het
Ttbk2 T C 2: 120,755,871 M386V probably benign Het
Vldlr A G 19: 27,238,275 E224G probably damaging Het
Vmn1r46 T A 6: 89,976,981 C271S probably benign Het
Zfhx2 T C 14: 55,065,103 E1808G possibly damaging Het
Zfp385a A G 15: 103,320,306 I42T probably damaging Het
Other mutations in Gzme
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01501:Gzme APN 14 56119401 missense probably damaging 1.00
IGL02282:Gzme APN 14 56118369 missense probably damaging 1.00
IGL02995:Gzme APN 14 56118709 missense probably damaging 1.00
R0711:Gzme UTSW 14 56117739 missense probably damaging 0.97
R1483:Gzme UTSW 14 56118712 missense probably damaging 1.00
R1765:Gzme UTSW 14 56118414 missense probably damaging 1.00
R4827:Gzme UTSW 14 56119298 missense probably null 0.92
R5327:Gzme UTSW 14 56117767 missense probably benign 0.01
R5328:Gzme UTSW 14 56117767 missense probably benign 0.01
R5440:Gzme UTSW 14 56118453 missense possibly damaging 0.52
R6081:Gzme UTSW 14 56118307 missense possibly damaging 0.46
R6573:Gzme UTSW 14 56118826 missense probably benign 0.03
R7525:Gzme UTSW 14 56119333 missense probably benign 0.00
Posted On2015-04-16