Incidental Mutation 'IGL01480:Serpina11'
ID88564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina11
Ensembl Gene ENSMUSG00000063232
Gene Nameserine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11
SynonymsLOC380780
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01480
Quality Score
Status
Chromosome12
Chromosomal Location103980243-103989957 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 103982851 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 354 (K354*)
Ref Sequence ENSEMBL: ENSMUSP00000112420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074693] [ENSMUST00000120251] [ENSMUST00000151709] [ENSMUST00000176246]
Predicted Effect probably null
Transcript: ENSMUST00000074693
AA Change: K356*
SMART Domains Protein: ENSMUSP00000074258
Gene: ENSMUSG00000063232
AA Change: K356*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SERPIN 64 424 3.55e-139 SMART
Predicted Effect probably null
Transcript: ENSMUST00000120251
AA Change: K354*
SMART Domains Protein: ENSMUSP00000112420
Gene: ENSMUSG00000063232
AA Change: K354*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 62 422 3.55e-139 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139777
Predicted Effect probably benign
Transcript: ENSMUST00000151709
SMART Domains Protein: ENSMUSP00000115400
Gene: ENSMUSG00000063232

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
SERPIN 69 237 5.23e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176106
Predicted Effect probably benign
Transcript: ENSMUST00000176246
SMART Domains Protein: ENSMUSP00000135138
Gene: ENSMUSG00000063232

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 62 258 3.22e-9 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T A 12: 88,456,865 C379* probably null Het
Ankrd10 A G 8: 11,635,592 V9A probably benign Het
Ankrd13a A T 5: 114,800,818 probably benign Het
Bbs1 T C 19: 4,894,393 K403E probably damaging Het
Cd200r2 A G 16: 44,909,266 I95V probably null Het
Cyba T C 8: 122,424,945 E171G probably benign Het
Dnah2 T A 11: 69,458,371 M2480L possibly damaging Het
Fxyd7 A T 7: 31,047,374 Y20* probably null Het
Il22ra1 T C 4: 135,744,801 V216A probably benign Het
Mapk10 G A 5: 102,926,152 probably benign Het
Mgat5b C A 11: 116,978,452 T607K probably benign Het
Nov A G 15: 54,752,291 Y284C probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr406 A T 11: 74,269,601 I71L possibly damaging Het
Olfr8 T C 10: 78,956,144 probably benign Het
Olfr975 G A 9: 39,949,988 A261V probably benign Het
Optn G A 2: 5,046,018 S184L probably benign Het
Plxna1 A G 6: 89,344,096 L462P possibly damaging Het
Prkca A G 11: 107,986,289 F339L possibly damaging Het
Prkca C T 11: 108,192,201 V73M probably damaging Het
Ptch2 T C 4: 117,114,082 V1062A probably damaging Het
Sf1 T C 19: 6,372,022 probably benign Het
Stam2 A G 2: 52,716,439 S112P probably benign Het
Tlr5 G A 1: 182,973,499 E123K probably benign Het
Tpp1 T C 7: 105,749,053 E301G probably damaging Het
Vmn2r58 T A 7: 41,864,692 I176F probably benign Het
Other mutations in Serpina11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Serpina11 APN 12 103986070 missense probably damaging 1.00
IGL03082:Serpina11 APN 12 103986301 missense probably benign 0.40
R0195:Serpina11 UTSW 12 103985872 missense probably damaging 1.00
R0233:Serpina11 UTSW 12 103980470 missense probably benign 0.00
R0233:Serpina11 UTSW 12 103980470 missense probably benign 0.00
R1318:Serpina11 UTSW 12 103986518 splice site probably benign
R1796:Serpina11 UTSW 12 103984695 missense probably damaging 1.00
R2102:Serpina11 UTSW 12 103982845 missense probably benign 0.01
R2202:Serpina11 UTSW 12 103985974 missense probably damaging 0.99
R2340:Serpina11 UTSW 12 103984743 missense probably benign 0.02
R4528:Serpina11 UTSW 12 103986333 missense probably benign 0.13
R4550:Serpina11 UTSW 12 103982895 missense probably damaging 1.00
R4946:Serpina11 UTSW 12 103984664 missense probably damaging 1.00
R5148:Serpina11 UTSW 12 103986244 missense probably damaging 1.00
R5311:Serpina11 UTSW 12 103985962 missense probably damaging 1.00
R6579:Serpina11 UTSW 12 103984748 missense probably damaging 1.00
R7289:Serpina11 UTSW 12 103986502 missense unknown
X0028:Serpina11 UTSW 12 103985899 missense probably benign 0.06
Posted On2013-11-18