Incidental Mutation 'R3974:Serpina1f'
ID 312546
Institutional Source Beutler Lab
Gene Symbol Serpina1f
Ensembl Gene ENSMUSG00000021081
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 1F
Synonyms 0610012A11Rik, epserin, Serpina2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3974 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103654303-103661788 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 103659830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 151 (G151*)
Ref Sequence ENSEMBL: ENSMUSP00000113736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021490] [ENSMUST00000117053] [ENSMUST00000118101]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000021490
AA Change: G151*
SMART Domains Protein: ENSMUSP00000021490
Gene: ENSMUSG00000021081
AA Change: G151*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 409 7.69e-85 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117053
AA Change: G151*
SMART Domains Protein: ENSMUSP00000112533
Gene: ENSMUSG00000021081
AA Change: G151*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 354 1.23e-51 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118101
AA Change: G151*
SMART Domains Protein: ENSMUSP00000113736
Gene: ENSMUSG00000021081
AA Change: G151*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 409 7.69e-85 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,029,488 (GRCm39) I486T probably damaging Het
Abca8a A T 11: 109,974,328 (GRCm39) M202K probably damaging Het
Abhd4 T A 14: 54,500,417 (GRCm39) I117N probably damaging Het
Adam23 T A 1: 63,586,888 (GRCm39) Y416* probably null Het
Cenpe A G 3: 134,940,986 (GRCm39) probably null Het
Cenph A G 13: 100,900,075 (GRCm39) V151A probably damaging Het
Cfap54 A G 10: 92,675,333 (GRCm39) S2863P possibly damaging Het
Clca3a1 A T 3: 144,738,400 (GRCm39) V36D probably damaging Het
Cnbd1 G A 4: 18,887,693 (GRCm39) R274C probably benign Het
Crot T C 5: 9,027,541 (GRCm39) T264A probably benign Het
Dll4 A G 2: 119,164,573 (GRCm39) D664G probably damaging Het
Ehbp1 C T 11: 22,087,867 (GRCm39) A406T probably benign Het
Far2 T A 6: 148,052,252 (GRCm39) I177N probably damaging Het
Flt4 T G 11: 49,527,567 (GRCm39) V910G probably damaging Het
Fmod A G 1: 133,968,496 (GRCm39) R179G probably benign Het
Gdf2 T A 14: 33,666,791 (GRCm39) V171D probably damaging Het
Gpx6 C A 13: 21,501,828 (GRCm39) S150Y probably damaging Het
Grik2 A T 10: 49,298,750 (GRCm39) Y37N probably damaging Het
Grn T C 11: 102,327,165 (GRCm39) V559A probably damaging Het
Lrrc37 A T 11: 103,509,927 (GRCm39) probably benign Het
Muc2 T A 7: 141,300,541 (GRCm39) probably benign Het
Myo5b T C 18: 74,767,552 (GRCm39) Y287H probably damaging Het
Nbeal2 T C 9: 110,462,914 (GRCm39) T1350A probably damaging Het
Nfkbiz T C 16: 55,638,799 (GRCm39) I220M probably benign Het
Nt5dc2 T C 14: 30,860,832 (GRCm39) S439P probably damaging Het
Omg T A 11: 79,393,224 (GRCm39) E211D probably benign Het
Or52ab7 T G 7: 102,978,285 (GRCm39) D197E probably damaging Het
Or8k18 A T 2: 86,085,935 (GRCm39) I34N possibly damaging Het
Pcdhb4 A G 18: 37,441,901 (GRCm39) T404A possibly damaging Het
Plcl1 T A 1: 55,737,374 (GRCm39) M905K probably benign Het
Plod2 G T 9: 92,480,672 (GRCm39) G422* probably null Het
Ppp1r12a T C 10: 108,089,341 (GRCm39) V660A probably benign Het
Prdm6 T C 18: 53,673,278 (GRCm39) I186T possibly damaging Het
Ptprq T G 10: 107,547,923 (GRCm39) K158N possibly damaging Het
Rimbp2 A G 5: 128,874,862 (GRCm39) V243A probably damaging Het
Rp1l1 T A 14: 64,267,758 (GRCm39) Y1115N probably damaging Het
Rtn4 C T 11: 29,657,505 (GRCm39) T553I probably damaging Het
Scrn3 T C 2: 73,166,121 (GRCm39) S385P possibly damaging Het
Sis T C 3: 72,850,968 (GRCm39) T577A probably damaging Het
Slco1a1 A T 6: 141,854,819 (GRCm39) S611T probably benign Het
Smad4 G T 18: 73,810,807 (GRCm39) T59K possibly damaging Het
Syne1 T C 10: 4,993,630 (GRCm39) D8370G probably benign Het
Tigd4 G A 3: 84,502,585 (GRCm39) A501T possibly damaging Het
Tjp1 A T 7: 64,947,387 (GRCm39) C1724* probably null Het
Tmem107 G T 11: 68,962,301 (GRCm39) probably null Het
Tsc22d1 T C 14: 76,656,049 (GRCm39) S761P probably damaging Het
Tyw5 A T 1: 57,430,687 (GRCm39) D165E probably damaging Het
U2af2 T A 7: 5,072,438 (GRCm39) probably null Het
Ube3b T A 5: 114,550,491 (GRCm39) D839E probably benign Het
Ush2a A G 1: 188,113,698 (GRCm39) D639G probably benign Het
Veph1 A T 3: 66,065,648 (GRCm39) M473K probably benign Het
Vmn2r72 A T 7: 85,399,017 (GRCm39) N445K probably damaging Het
Vps37d T C 5: 135,105,393 (GRCm39) M77V probably null Het
Other mutations in Serpina1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Serpina1f APN 12 103,658,128 (GRCm39) missense probably benign 0.02
IGL00757:Serpina1f APN 12 103,659,721 (GRCm39) missense probably damaging 1.00
IGL01123:Serpina1f APN 12 103,660,265 (GRCm39) missense possibly damaging 0.47
IGL01695:Serpina1f APN 12 103,659,943 (GRCm39) missense probably damaging 1.00
IGL01791:Serpina1f APN 12 103,659,761 (GRCm39) missense probably damaging 1.00
IGL01868:Serpina1f APN 12 103,659,704 (GRCm39) missense probably benign 0.24
IGL02135:Serpina1f APN 12 103,659,974 (GRCm39) missense possibly damaging 0.90
IGL03025:Serpina1f APN 12 103,659,805 (GRCm39) missense probably damaging 0.99
IGL03331:Serpina1f APN 12 103,657,150 (GRCm39) missense probably benign 0.04
R0084:Serpina1f UTSW 12 103,659,847 (GRCm39) missense possibly damaging 0.82
R0492:Serpina1f UTSW 12 103,659,826 (GRCm39) missense possibly damaging 0.72
R0893:Serpina1f UTSW 12 103,660,094 (GRCm39) missense probably damaging 0.97
R2202:Serpina1f UTSW 12 103,659,655 (GRCm39) missense possibly damaging 0.75
R4179:Serpina1f UTSW 12 103,658,179 (GRCm39) missense probably benign 0.08
R4736:Serpina1f UTSW 12 103,659,805 (GRCm39) missense probably damaging 0.97
R4948:Serpina1f UTSW 12 103,656,010 (GRCm39) missense probably damaging 1.00
R5092:Serpina1f UTSW 12 103,659,809 (GRCm39) missense probably damaging 1.00
R5416:Serpina1f UTSW 12 103,660,203 (GRCm39) missense possibly damaging 0.68
R5887:Serpina1f UTSW 12 103,659,890 (GRCm39) nonsense probably null
R5887:Serpina1f UTSW 12 103,656,046 (GRCm39) missense possibly damaging 0.85
R6413:Serpina1f UTSW 12 103,659,953 (GRCm39) missense probably damaging 1.00
R6566:Serpina1f UTSW 12 103,659,794 (GRCm39) missense probably damaging 1.00
R7371:Serpina1f UTSW 12 103,656,086 (GRCm39) missense probably damaging 0.96
R7419:Serpina1f UTSW 12 103,656,101 (GRCm39) missense probably damaging 1.00
R7527:Serpina1f UTSW 12 103,658,167 (GRCm39) missense probably benign 0.16
R7943:Serpina1f UTSW 12 103,659,949 (GRCm39) missense probably damaging 0.98
R8249:Serpina1f UTSW 12 103,660,027 (GRCm39) missense probably damaging 1.00
R8270:Serpina1f UTSW 12 103,659,757 (GRCm39) missense probably damaging 1.00
R8810:Serpina1f UTSW 12 103,660,240 (GRCm39) missense probably benign 0.00
R8962:Serpina1f UTSW 12 103,656,131 (GRCm39) missense probably benign 0.01
R9657:Serpina1f UTSW 12 103,656,050 (GRCm39) nonsense probably null
Z1176:Serpina1f UTSW 12 103,658,125 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- TGGATAAATCCCCTGGAGCC -3'
(R):5'- AAACACATCCTGGAGACTCTAAGG -3'

Sequencing Primer
(F):5'- ACCCTTACCATTCCAGATAATGTAG -3'
(R):5'- TCCTGGAGACTCTAAGGTTCAAC -3'
Posted On 2015-04-30