Incidental Mutation 'IGL02633:Gzmg'
ID301386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gzmg
Ensembl Gene ENSMUSG00000040284
Gene Namegranzyme G
SynonymsCtla-7, Ctla7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02633
Quality Score
Status
Chromosome14
Chromosomal Location56156582-56159579 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56156703 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 245 (M245V)
Ref Sequence ENSEMBL: ENSMUSP00000015578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015578]
Predicted Effect probably damaging
Transcript: ENSMUST00000015578
AA Change: M245V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000015578
Gene: ENSMUSG00000040284
AA Change: M245V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 241 6.39e-82 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 T C 11: 53,409,371 probably benign Het
Ap1g2 T C 14: 55,100,647 probably null Het
Aspn A T 13: 49,551,887 Y75F possibly damaging Het
Atm G A 9: 53,448,153 T2783I probably damaging Het
Cacnb1 A T 11: 98,022,373 I18N probably damaging Het
Casr T C 16: 36,515,655 I97M probably damaging Het
Cnga2 T A X: 72,005,049 probably benign Het
Coasy T A 11: 101,085,321 L425Q probably damaging Het
Cps1 A G 1: 67,123,237 T25A probably benign Het
Dnah1 T C 14: 31,284,815 Y2181C probably benign Het
Efna3 A C 3: 89,315,442 S230A probably damaging Het
Eng A G 2: 32,673,274 I281V probably damaging Het
Erlec1 T A 11: 30,948,430 R14* probably null Het
Fam206a T C 4: 56,806,131 V181A possibly damaging Het
Gbp9 C T 5: 105,083,565 probably benign Het
Kdm5a A G 6: 120,364,719 I36V probably damaging Het
Krt83 A G 15: 101,491,214 V79A probably damaging Het
Limd1 A T 9: 123,479,922 probably benign Het
Lmo4 T C 3: 144,193,922 S155G probably benign Het
Mrpl44 G A 1: 79,776,145 V5I probably benign Het
Mrpl49 T C 19: 6,054,901 T146A possibly damaging Het
Mrpl58 T C 11: 115,410,631 probably benign Het
Nab1 C T 1: 52,490,133 V202M probably damaging Het
Nav3 T A 10: 109,692,136 M2229L probably benign Het
Notch2 C T 3: 98,116,697 probably benign Het
Nub1 A G 5: 24,692,933 I106V probably benign Het
Prom1 A T 5: 44,014,775 S595T probably benign Het
Rbfox1 T A 16: 7,292,214 S165R probably damaging Het
Sipa1l2 G A 8: 125,447,768 T1257I probably damaging Het
Smarcc2 T C 10: 128,469,687 S327P probably damaging Het
Tdpoz1 T C 3: 93,670,749 M243V probably benign Het
Ttn G T 2: 76,718,945 T23469K probably damaging Het
Ube2u T C 4: 100,482,774 probably benign Het
Umodl1 T C 17: 30,989,488 Y836H probably damaging Het
Vmn2r45 A G 7: 8,485,729 Y101H probably benign Het
Vps13a T A 19: 16,720,408 Q781L possibly damaging Het
Vwce G A 19: 10,648,494 V457M probably damaging Het
Other mutations in Gzmg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Gzmg APN 14 56157341 missense probably benign 0.00
IGL02323:Gzmg APN 14 56157272 missense probably benign 0.01
R0456:Gzmg UTSW 14 56158322 missense probably damaging 1.00
R1368:Gzmg UTSW 14 56157806 missense probably benign 0.41
R1663:Gzmg UTSW 14 56156808 missense probably damaging 1.00
R2511:Gzmg UTSW 14 56158375 missense probably benign 0.00
R3691:Gzmg UTSW 14 56157677 splice site probably benign
R4509:Gzmg UTSW 14 56156753 missense probably damaging 1.00
R6776:Gzmg UTSW 14 56156831 missense probably damaging 1.00
R7175:Gzmg UTSW 14 56159522 start codon destroyed probably null
R7502:Gzmg UTSW 14 56156827 missense not run
R8022:Gzmg UTSW 14 56157446 missense probably benign 0.15
R8255:Gzmg UTSW 14 56158296 missense probably damaging 1.00
Posted On2015-04-16