Incidental Mutation 'R5167:Serpina12'
ID 397361
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 042747-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5167 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 103995028-104010702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104004179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 151 (L151Q)
Ref Sequence ENSEMBL: ENSMUSP00000045572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043915]
AlphaFold Q7TMF5
Predicted Effect probably damaging
Transcript: ENSMUST00000043915
AA Change: L151Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045572
Gene: ENSMUSG00000041567
AA Change: L151Q

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 57 411 1.02e-139 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (38/39)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,862,656 (GRCm39) Y113N probably damaging Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Calm3 T C 7: 16,651,626 (GRCm39) D21G probably damaging Het
Cldn23 C T 8: 36,293,474 (GRCm39) V5M possibly damaging Het
D630003M21Rik A G 2: 158,047,665 (GRCm39) S735P probably damaging Het
Dscaml1 T C 9: 45,628,730 (GRCm39) Y1095H probably damaging Het
Esr2 T C 12: 76,170,048 (GRCm39) T427A probably benign Het
Fbxo28 T C 1: 182,145,558 (GRCm39) I177V possibly damaging Het
Fubp1 T C 3: 151,926,989 (GRCm39) L372P possibly damaging Het
Glis1 G A 4: 107,491,891 (GRCm39) G585E probably damaging Het
Gm7258 T C 7: 128,197,791 (GRCm39) noncoding transcript Het
Hecw1 C T 13: 14,460,242 (GRCm39) R613Q probably damaging Het
Kif13b T C 14: 65,010,384 (GRCm39) S1228P probably damaging Het
Knl1 A G 2: 118,900,512 (GRCm39) I738V probably damaging Het
Lig1 T A 7: 13,044,983 (GRCm39) V892D probably damaging Het
Lvrn T A 18: 47,013,814 (GRCm39) Y499N probably damaging Het
Ly9 C A 1: 171,432,773 (GRCm39) W80L probably damaging Het
Lypd5 T C 7: 24,051,889 (GRCm39) V68A possibly damaging Het
Ngdn C T 14: 55,259,656 (GRCm39) Q236* probably null Het
Nudt7 C A 8: 114,878,567 (GRCm39) C154* probably null Het
Obi1 A G 14: 104,716,223 (GRCm39) S717P probably damaging Het
Or14j10 C A 17: 37,934,642 (GRCm39) E295* probably null Het
Or4f14b A T 2: 111,775,447 (GRCm39) M118K probably damaging Het
Or5b117 T A 19: 13,431,741 (GRCm39) I47F probably damaging Het
Paxbp1 A G 16: 90,819,555 (GRCm39) probably null Het
Pcnt G T 10: 76,256,258 (GRCm39) Q661K probably damaging Het
Plekha1 G A 7: 130,487,179 (GRCm39) probably null Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Rac3 A G 11: 120,613,421 (GRCm39) D58G probably null Het
Rgl2 C T 17: 34,154,948 (GRCm39) R203* probably null Het
Ryr1 T C 7: 28,767,118 (GRCm39) D2948G probably damaging Het
Sf3a1 T C 11: 4,127,456 (GRCm39) V594A possibly damaging Het
Spdl1 G T 11: 34,704,187 (GRCm39) H549N possibly damaging Het
Srp68 C A 11: 116,156,300 (GRCm39) E147D probably damaging Het
Zfp352 A G 4: 90,112,453 (GRCm39) T198A possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CCCTAGCCTTACCTCGAAAG -3'
(R):5'- GCTTCAAGCTACTGCAGAGG -3'

Sequencing Primer
(F):5'- AATCATCACGGTGCCTG -3'
(R):5'- AAGCTACTGCAGAGGCTGGC -3'
Posted On 2016-07-06