Incidental Mutation 'IGL01480:Serpina11'
ID 88564
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina11
Ensembl Gene ENSMUSG00000063232
Gene Name serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11
Synonyms LOC380780
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL01480
Quality Score
Status
Chromosome 12
Chromosomal Location 103946502-103956216 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 103949110 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 88,423,635 (GRCm39) C379* probably null Het
Ankrd10 A G 8: 11,685,592 (GRCm39) V9A probably benign Het
Ankrd13a A T 5: 114,938,879 (GRCm39) probably benign Het
Bbs1 T C 19: 4,944,421 (GRCm39) K403E probably damaging Het
Ccn3 A G 15: 54,615,687 (GRCm39) Y284C probably damaging Het
Cd200r2 A G 16: 44,729,629 (GRCm39) I95V probably null Het
Cyba T C 8: 123,151,684 (GRCm39) E171G probably benign Het
Dnah2 T A 11: 69,349,197 (GRCm39) M2480L possibly damaging Het
Fxyd7 A T 7: 30,746,799 (GRCm39) Y20* probably null Het
Il22ra1 T C 4: 135,472,112 (GRCm39) V216A probably benign Het
Mapk10 G A 5: 103,074,018 (GRCm39) probably benign Het
Mgat5b C A 11: 116,869,278 (GRCm39) T607K probably benign Het
Optn G A 2: 5,050,829 (GRCm39) S184L probably benign Het
Or10d5 G A 9: 39,861,284 (GRCm39) A261V probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or1p1c A T 11: 74,160,427 (GRCm39) I71L possibly damaging Het
Or7a42 T C 10: 78,791,978 (GRCm39) probably benign Het
Plxna1 A G 6: 89,321,078 (GRCm39) L462P possibly damaging Het
Prkca C T 11: 108,083,027 (GRCm39) V73M probably damaging Het
Prkca A G 11: 107,877,115 (GRCm39) F339L possibly damaging Het
Ptch2 T C 4: 116,971,279 (GRCm39) V1062A probably damaging Het
Sf1 T C 19: 6,422,052 (GRCm39) probably benign Het
Stam2 A G 2: 52,606,451 (GRCm39) S112P probably benign Het
Tlr5 G A 1: 182,801,064 (GRCm39) E123K probably benign Het
Tpp1 T C 7: 105,398,260 (GRCm39) E301G probably damaging Het
Vmn2r58 T A 7: 41,514,116 (GRCm39) I176F probably benign Het
Other mutations in Serpina11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Serpina11 APN 12 103,952,329 (GRCm39) missense probably damaging 1.00
IGL03082:Serpina11 APN 12 103,952,560 (GRCm39) missense probably benign 0.40
R0195:Serpina11 UTSW 12 103,952,131 (GRCm39) missense probably damaging 1.00
R0233:Serpina11 UTSW 12 103,946,729 (GRCm39) missense probably benign 0.00
R0233:Serpina11 UTSW 12 103,946,729 (GRCm39) missense probably benign 0.00
R1318:Serpina11 UTSW 12 103,952,777 (GRCm39) splice site probably benign
R1796:Serpina11 UTSW 12 103,950,954 (GRCm39) missense probably damaging 1.00
R2102:Serpina11 UTSW 12 103,949,104 (GRCm39) missense probably benign 0.01
R2202:Serpina11 UTSW 12 103,952,233 (GRCm39) missense probably damaging 0.99
R2340:Serpina11 UTSW 12 103,951,002 (GRCm39) missense probably benign 0.02
R4528:Serpina11 UTSW 12 103,952,592 (GRCm39) missense probably benign 0.13
R4550:Serpina11 UTSW 12 103,949,154 (GRCm39) missense probably damaging 1.00
R4946:Serpina11 UTSW 12 103,950,923 (GRCm39) missense probably damaging 1.00
R5148:Serpina11 UTSW 12 103,952,503 (GRCm39) missense probably damaging 1.00
R5311:Serpina11 UTSW 12 103,952,221 (GRCm39) missense probably damaging 1.00
R6579:Serpina11 UTSW 12 103,951,007 (GRCm39) missense probably damaging 1.00
R7289:Serpina11 UTSW 12 103,952,761 (GRCm39) missense unknown
R7825:Serpina11 UTSW 12 103,950,836 (GRCm39) missense probably benign 0.02
R8773:Serpina11 UTSW 12 103,952,722 (GRCm39) missense unknown
X0028:Serpina11 UTSW 12 103,952,158 (GRCm39) missense probably benign 0.06
Z1177:Serpina11 UTSW 12 103,946,762 (GRCm39) missense probably benign 0.21
Posted On 2013-11-18