Incidental Mutation 'IGL00332:Gzmd'
ID4184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gzmd
Ensembl Gene ENSMUSG00000059256
Gene Namegranzyme D
SynonymsCCP5, Ctla-5, Ctla5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00332
Quality Score
Status
Chromosome14
Chromosomal Location56129556-56132608 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 56130280 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 179 (C179S)
Ref Sequence ENSEMBL: ENSMUSP00000080742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082093]
Predicted Effect probably damaging
Transcript: ENSMUST00000082093
AA Change: C179S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080742
Gene: ENSMUSG00000059256
AA Change: C179S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 20 245 2.68e-75 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,176,421 Y404H possibly damaging Het
Adgrv1 T A 13: 81,472,877 probably benign Het
Akap13 A G 7: 75,728,919 K2107E probably damaging Het
Ankrd42 A G 7: 92,584,454 probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Aplnr A G 2: 85,137,641 S337G probably benign Het
Arhgef40 A G 14: 51,988,960 N154D probably damaging Het
Asb14 A G 14: 26,912,041 K401R probably benign Het
Aspn C A 13: 49,566,492 T328K probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brca2 T A 5: 150,539,898 H1042Q probably benign Het
C3 A G 17: 57,226,004 L167P probably benign Het
Ccdc33 A G 9: 58,069,974 probably benign Het
Cdk10 T A 8: 123,230,324 M222K possibly damaging Het
Cfap45 C T 1: 172,535,345 probably benign Het
Chil3 T A 3: 106,148,701 N352I probably damaging Het
Chn2 G T 6: 54,295,922 probably null Het
Cpt1b T C 15: 89,420,863 E394G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgr2b T A 1: 170,961,230 N273I possibly damaging Het
Fpr-rs7 G A 17: 20,113,218 Q337* probably null Het
Fras1 T A 5: 96,739,358 N2666K possibly damaging Het
Gfra3 C T 18: 34,691,548 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr75 C T 11: 30,891,590 T165I probably damaging Het
Hand1 T G 11: 57,831,749 H13P probably damaging Het
Irak3 C T 10: 120,178,067 probably null Het
Isl2 T A 9: 55,544,969 L275Q possibly damaging Het
Itgb2 T C 10: 77,557,406 V367A probably damaging Het
Katna1 T C 10: 7,762,994 probably benign Het
Myh6 A G 14: 54,946,993 M1627T probably benign Het
Naprt A G 15: 75,893,315 Y187H probably damaging Het
Nedd4 T A 9: 72,735,089 V550E probably damaging Het
Nt5c2 A G 19: 46,896,515 V252A possibly damaging Het
Olfr1089 T C 2: 86,733,235 I126V possibly damaging Het
Olfr1504 C T 19: 13,887,581 V210I probably benign Het
P2ry2 A G 7: 100,998,186 V304A probably damaging Het
Pde4dip T C 3: 97,767,277 N108D probably benign Het
Pdgfrl A G 8: 40,985,623 T199A probably damaging Het
Plaa A G 4: 94,582,607 Y431H probably benign Het
Pls1 A T 9: 95,782,419 I177N possibly damaging Het
Plxna2 T C 1: 194,789,830 F1035L probably damaging Het
Ppp6r3 A T 19: 3,514,729 probably null Het
Prpf4b T C 13: 34,883,907 S240P probably benign Het
Reg2 T A 6: 78,406,221 Y50* probably null Het
Rev3l C T 10: 39,806,969 T361I probably benign Het
Rps4l A G 6: 148,354,885 probably benign Het
Scn11a A T 9: 119,769,916 F1183I probably damaging Het
Sh2b2 T C 5: 136,224,419 E327G probably damaging Het
Shank2 A G 7: 144,411,847 K1057R probably damaging Het
Sim2 T A 16: 94,114,944 Y255* probably null Het
Snx9 A G 17: 5,899,361 N112S probably benign Het
Sphkap T A 1: 83,280,516 I169F probably damaging Het
Spink5 A G 18: 43,967,044 T43A probably benign Het
Stac2 C T 11: 98,041,179 S265N probably benign Het
Tbx20 A G 9: 24,758,748 V91A probably damaging Het
Tgfbr2 C T 9: 116,110,189 R190H probably damaging Het
Ubr2 A G 17: 46,990,990 probably null Het
Wdfy3 C T 5: 101,915,338 probably null Het
Wdr82 T C 9: 106,184,250 V166A probably benign Het
Zfhx4 C T 3: 5,242,341 A209V probably damaging Het
Zfp518b T A 5: 38,673,766 T299S possibly damaging Het
Other mutations in Gzmd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03220:Gzmd APN 14 56130429 missense probably damaging 1.00
R0225:Gzmd UTSW 14 56129704 missense probably damaging 1.00
R0800:Gzmd UTSW 14 56132491 missense unknown
R1538:Gzmd UTSW 14 56130345 missense probably benign 0.01
R1926:Gzmd UTSW 14 56130280 missense probably damaging 1.00
R2159:Gzmd UTSW 14 56130696 missense probably damaging 1.00
R4689:Gzmd UTSW 14 56131226 splice site probably null
R4709:Gzmd UTSW 14 56130241 missense probably null 0.83
R4959:Gzmd UTSW 14 56132498 missense unknown
R5339:Gzmd UTSW 14 56130683 missense possibly damaging 0.79
R5619:Gzmd UTSW 14 56129767 missense probably benign 0.10
R7241:Gzmd UTSW 14 56131342 missense probably damaging 1.00
R7667:Gzmd UTSW 14 56131252 missense probably damaging 1.00
R7770:Gzmd UTSW 14 56131263 missense probably damaging 0.99
R8320:Gzmd UTSW 14 56129733 missense probably benign 0.09
Posted On2012-04-20