Incidental Mutation 'IGL02960:Serpina16'
ID365311
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina16
Ensembl Gene ENSMUSG00000071179
Gene Nameserine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 16
SynonymsGm46, LOC194604
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02960
Quality Score
Status
Chromosome12
Chromosomal Location103668808-103676139 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 103675379 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 29 (T29I)
Ref Sequence ENSEMBL: ENSMUSP00000126933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095451] [ENSMUST00000164148]
Predicted Effect probably benign
Transcript: ENSMUST00000095451
AA Change: T29I

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093103
Gene: ENSMUSG00000071179
AA Change: T29I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 52 407 6.36e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164148
AA Change: T29I

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126933
Gene: ENSMUSG00000071179
AA Change: T29I

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 52 407 6.36e-68 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,142,808 R14C probably benign Het
Adam29 A T 8: 55,872,666 L251* probably null Het
Atpaf2 T C 11: 60,405,824 E161G probably damaging Het
Brwd1 T C 16: 96,057,466 D381G probably damaging Het
Cept1 T A 3: 106,539,396 R45* probably null Het
Col3a1 A G 1: 45,328,455 E273G unknown Het
Cuzd1 T C 7: 131,320,103 N57D probably benign Het
Cyp2b13 A G 7: 26,061,676 K53E probably benign Het
Fadd T C 7: 144,580,539 E203G probably benign Het
Gm14548 T C 7: 3,897,079 T175A possibly damaging Het
Gm3159 G A 14: 4,400,552 probably null Het
Gpr137c T C 14: 45,246,433 F206L possibly damaging Het
Hephl1 G T 9: 15,084,319 T471N probably damaging Het
Ido1 A T 8: 24,593,329 probably benign Het
Krt40 C T 11: 99,539,867 probably null Het
Lrp2 T A 2: 69,455,453 probably benign Het
Lrrc8a T A 2: 30,257,013 L613H probably damaging Het
Mettl14 A G 3: 123,374,885 Y169H probably damaging Het
Nlrp4a A G 7: 26,449,730 Q254R probably benign Het
Olfr1211 A C 2: 88,929,784 M177R possibly damaging Het
Olfr1356 A T 10: 78,847,537 I126N probably damaging Het
Pkhd1 A T 1: 20,377,446 M2241K possibly damaging Het
Ptprd G A 4: 76,128,868 S387L probably damaging Het
Ryr1 A C 7: 29,060,053 L3264R probably damaging Het
Slc9a7 A G X: 20,186,143 M237T probably benign Het
Tbck A G 3: 132,722,783 T300A probably benign Het
Tcaf1 A C 6: 42,686,459 D162E probably benign Het
Unc80 G A 1: 66,678,058 probably benign Het
Usp17le A C 7: 104,768,740 H398Q probably benign Het
Utp15 G A 13: 98,252,881 T303M probably benign Het
Vmn2r86 A C 10: 130,453,767 D86E possibly damaging Het
Zmym2 T A 14: 56,938,413 C822S probably benign Het
Zp3r T C 1: 130,583,438 D336G possibly damaging Het
Zpr1 A G 9: 46,273,551 H82R probably damaging Het
Other mutations in Serpina16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:Serpina16 APN 12 103675302 missense probably damaging 1.00
R2086:Serpina16 UTSW 12 103675262 missense probably damaging 1.00
R4092:Serpina16 UTSW 12 103672577 missense probably benign 0.01
R5027:Serpina16 UTSW 12 103675003 nonsense probably null
R5054:Serpina16 UTSW 12 103674930 missense probably benign 0.08
R6736:Serpina16 UTSW 12 103668932 missense possibly damaging 0.83
R7016:Serpina16 UTSW 12 103675371 missense probably benign 0.00
R7283:Serpina16 UTSW 12 103672432 critical splice donor site probably null
Z1177:Serpina16 UTSW 12 103675103 missense probably benign 0.03
Posted On2015-12-18