Incidental Mutation 'R0038:Serpina12'
ID 15512
Institutional Source Beutler Lab
Gene Symbol Serpina12
Ensembl Gene ENSMUSG00000041567
Gene Name serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12
Synonyms vaspin
MMRRC Submission 038332-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0038 (G1)
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 103995028-104010702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104004216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 139 (F139L)
Ref Sequence ENSEMBL: ENSMUSP00000045572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043915]
AlphaFold Q7TMF5
Predicted Effect probably damaging
Transcript: ENSMUST00000043915
AA Change: F139L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045572
Gene: ENSMUSG00000041567
AA Change: F139L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 57 411 1.02e-139 SMART
Meta Mutation Damage Score 0.5555 question?
Coding Region Coverage
  • 1x: 83.6%
  • 3x: 76.1%
  • 10x: 58.6%
  • 20x: 40.4%
Validation Efficiency 91% (67/74)
MGI Phenotype PHENOTYPE: Mice hmomozygous for a knock-out allele exhibit increased body weight, epididymal fat pad weight, liver weight, fat cell size, serum total and small density LDL cholesterol, serum leptin, liver triglyceride and insulin resistance when fed a high fat, high sucrose diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg1 T C 1: 82,863,823 (GRCm39) probably benign Het
Ahnak2 T C 12: 112,740,896 (GRCm39) T253A probably benign Het
Ankrd28 A T 14: 31,429,992 (GRCm39) M892K probably damaging Het
Arhgef25 T C 10: 127,022,734 (GRCm39) probably benign Het
Cldn8 A G 16: 88,359,922 (GRCm39) M1T probably null Het
Clec11a A G 7: 43,955,906 (GRCm39) probably benign Het
Ddx39a T C 8: 84,449,127 (GRCm39) L305P probably damaging Het
Depdc5 A G 5: 33,026,197 (GRCm39) E60G probably benign Het
Etl4 A T 2: 20,748,385 (GRCm39) H39L probably damaging Het
Gramd1b G A 9: 40,228,822 (GRCm39) T252M probably damaging Het
Hcrtr2 A T 9: 76,166,963 (GRCm39) S125T probably benign Het
Htr2a T G 14: 74,943,687 (GRCm39) S422R probably benign Het
Kirrel3 T A 9: 34,823,066 (GRCm39) probably null Het
Krtap9-5 G A 11: 99,839,428 (GRCm39) C43Y possibly damaging Het
Lama2 T C 10: 26,862,793 (GRCm39) D2990G probably benign Het
Ncor1 A G 11: 62,283,377 (GRCm39) F437L probably damaging Het
Nlrp1b A G 11: 71,062,997 (GRCm39) S685P possibly damaging Het
Oog4 T C 4: 143,165,514 (GRCm39) D211G probably benign Het
Pcdh15 A T 10: 74,479,272 (GRCm39) E723V possibly damaging Het
Pgm3 A T 9: 86,446,726 (GRCm39) probably benign Het
Pnpla5 A G 15: 84,006,714 (GRCm39) Y90H probably damaging Het
Polr1b C T 2: 128,957,588 (GRCm39) R548* probably null Het
Rnf168 T C 16: 32,117,813 (GRCm39) V458A probably benign Het
Rnf32 T C 5: 29,410,652 (GRCm39) probably benign Het
Sclt1 T C 3: 41,583,943 (GRCm39) probably benign Het
Stag3 T A 5: 138,299,298 (GRCm39) probably null Het
Stard5 T C 7: 83,285,951 (GRCm39) probably benign Het
Suclg1 A G 6: 73,237,486 (GRCm39) E77G probably benign Het
Ush2a G T 1: 188,358,809 (GRCm39) G2112C probably benign Het
Zfp644 T G 5: 106,782,909 (GRCm39) E1155A probably benign Het
Other mutations in Serpina12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Serpina12 APN 12 103,997,373 (GRCm39) missense probably benign 0.01
IGL00976:Serpina12 APN 12 103,998,787 (GRCm39) missense probably damaging 1.00
IGL01592:Serpina12 APN 12 104,004,381 (GRCm39) missense probably damaging 1.00
IGL02355:Serpina12 APN 12 104,004,140 (GRCm39) missense probably benign 0.00
IGL02362:Serpina12 APN 12 104,004,140 (GRCm39) missense probably benign 0.00
IGL02648:Serpina12 APN 12 104,004,267 (GRCm39) missense probably benign 0.02
IGL03011:Serpina12 APN 12 103,997,397 (GRCm39) missense possibly damaging 0.86
IGL03156:Serpina12 APN 12 104,004,158 (GRCm39) missense probably damaging 1.00
sabina UTSW 12 104,004,179 (GRCm39) missense probably damaging 1.00
PIT4305001:Serpina12 UTSW 12 104,001,976 (GRCm39) missense probably damaging 1.00
R0038:Serpina12 UTSW 12 104,004,216 (GRCm39) missense probably damaging 1.00
R0448:Serpina12 UTSW 12 104,004,354 (GRCm39) missense probably benign 0.20
R0465:Serpina12 UTSW 12 104,004,104 (GRCm39) missense probably benign 0.04
R0480:Serpina12 UTSW 12 104,001,960 (GRCm39) missense probably damaging 1.00
R0498:Serpina12 UTSW 12 104,002,048 (GRCm39) missense probably damaging 1.00
R0503:Serpina12 UTSW 12 103,997,418 (GRCm39) missense probably damaging 0.97
R0581:Serpina12 UTSW 12 103,997,399 (GRCm39) missense probably damaging 0.97
R1393:Serpina12 UTSW 12 104,004,009 (GRCm39) missense possibly damaging 0.73
R1847:Serpina12 UTSW 12 103,998,769 (GRCm39) missense probably damaging 1.00
R1956:Serpina12 UTSW 12 104,002,048 (GRCm39) missense probably damaging 1.00
R3125:Serpina12 UTSW 12 104,004,242 (GRCm39) missense probably benign
R4093:Serpina12 UTSW 12 104,004,183 (GRCm39) missense probably damaging 1.00
R4584:Serpina12 UTSW 12 104,004,611 (GRCm39) missense unknown
R4897:Serpina12 UTSW 12 104,004,056 (GRCm39) missense possibly damaging 0.60
R5117:Serpina12 UTSW 12 104,004,009 (GRCm39) missense possibly damaging 0.73
R5167:Serpina12 UTSW 12 104,004,179 (GRCm39) missense probably damaging 1.00
R5344:Serpina12 UTSW 12 104,001,807 (GRCm39) splice site probably null
R5720:Serpina12 UTSW 12 104,004,563 (GRCm39) missense probably benign 0.05
R6011:Serpina12 UTSW 12 104,001,993 (GRCm39) missense probably damaging 1.00
R6027:Serpina12 UTSW 12 103,997,336 (GRCm39) missense probably benign 0.01
R6170:Serpina12 UTSW 12 104,004,500 (GRCm39) missense probably benign 0.03
R7538:Serpina12 UTSW 12 104,004,587 (GRCm39) missense unknown
R7899:Serpina12 UTSW 12 104,004,524 (GRCm39) missense probably benign 0.01
R9649:Serpina12 UTSW 12 104,004,317 (GRCm39) missense probably benign 0.01
Posted On 2012-12-21