Incidental Mutation 'R5887:Serpina1f'
ID 456181
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 # R5887 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103654303-103661788 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 103659890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 131 (Q131*)
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: Q131*
SMART Domains Protein: ENSMUSP00000021490
Gene: ENSMUSG00000021081
AA Change: Q131*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 409 7.69e-85 SMART
Predicted Effect probably null
Transcript: ENSMUST00000117053
AA Change: Q131*
SMART Domains Protein: ENSMUSP00000112533
Gene: ENSMUSG00000021081
AA Change: Q131*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 354 1.23e-51 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118101
AA Change: Q131*
SMART Domains Protein: ENSMUSP00000113736
Gene: ENSMUSG00000021081
AA Change: Q131*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 409 7.69e-85 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,892,124 (GRCm39) Q129* probably null Het
Acad8 A T 9: 26,890,620 (GRCm39) probably null Het
AK157302 T C 13: 21,679,579 (GRCm39) I35T possibly damaging Het
Arfgef3 G T 10: 18,483,413 (GRCm39) S1437* probably null Het
Calcrl A T 2: 84,200,841 (GRCm39) W68R probably damaging Het
Cd200l1 T A 16: 45,238,279 (GRCm39) L178F probably damaging Het
Cd59a A G 2: 103,934,546 (GRCm39) R5G probably damaging Het
Chl1 C T 6: 103,694,565 (GRCm39) A1091V probably benign Het
Copg1 T C 6: 87,879,279 (GRCm39) F442L probably damaging Het
Creld1 T C 6: 113,469,860 (GRCm39) *421Q probably null Het
Crocc2 T A 1: 93,121,838 (GRCm39) H662Q possibly damaging Het
Csf2ra G A 19: 61,215,766 (GRCm39) A13V possibly damaging Het
Cul3 T C 1: 80,254,139 (GRCm39) T546A possibly damaging Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Dock6 T A 9: 21,731,690 (GRCm39) H1173L probably damaging Het
Dpysl4 T C 7: 138,676,192 (GRCm39) I328T possibly damaging Het
Dspp G A 5: 104,323,321 (GRCm39) G155R probably damaging Het
Fbxo33 A T 12: 59,251,545 (GRCm39) C57* probably null Het
Frrs1 T A 3: 116,690,399 (GRCm39) V14D probably benign Het
Gm13199 C T 2: 5,867,113 (GRCm39) G96S unknown Het
Gpr155 A T 2: 73,174,062 (GRCm39) C754* probably null Het
Gpr62 A T 9: 106,342,814 (GRCm39) V38E probably damaging Het
Kcnt2 C A 1: 140,353,104 (GRCm39) P271H probably damaging Het
Kpna3 C T 14: 61,640,461 (GRCm39) V34I probably benign Het
Lamb1 C T 12: 31,316,863 (GRCm39) Q71* probably null Het
Lipk T C 19: 34,016,507 (GRCm39) I245T possibly damaging Het
Lrp1b T G 2: 40,711,719 (GRCm39) N3281T possibly damaging Het
Lrp5 A C 19: 3,654,094 (GRCm39) I1111S probably benign Het
Mmrn1 T C 6: 60,964,058 (GRCm39) V1020A probably benign Het
Or4c107 G A 2: 88,789,098 (GRCm39) C96Y possibly damaging Het
Or8b48 G A 9: 38,493,080 (GRCm39) C169Y probably damaging Het
Or8g34 T C 9: 39,372,787 (GRCm39) L17P probably damaging Het
Pcdha7 A T 18: 37,108,960 (GRCm39) T662S probably damaging Het
Pcdhga6 A G 18: 37,841,612 (GRCm39) D444G probably damaging Het
Pkd2 T G 5: 104,646,405 (GRCm39) D737E probably damaging Het
Plcd4 C T 1: 74,590,249 (GRCm39) R161W probably damaging Het
Prpf8 A G 11: 75,391,734 (GRCm39) Y1494C possibly damaging Het
Rad17 A C 13: 100,770,369 (GRCm39) probably null Het
Rbm17 A T 2: 11,590,485 (GRCm39) F390Y probably damaging Het
Rhod A T 19: 4,489,315 (GRCm39) L22Q probably damaging Het
Spocd1 A T 4: 129,842,752 (GRCm39) S56C probably damaging Het
St7l G A 3: 104,782,244 (GRCm39) R207H probably benign Het
Tasor T A 14: 27,188,254 (GRCm39) L900* probably null Het
Tbx18 T C 9: 87,595,566 (GRCm39) D336G possibly damaging Het
Tfg A T 16: 56,514,779 (GRCm39) Y135* probably null Het
Tjp2 A G 19: 24,073,963 (GRCm39) L1108P probably benign Het
Tmem150c C A 5: 100,243,524 (GRCm39) V8L probably benign Het
Ttn A T 2: 76,746,789 (GRCm39) H4753Q probably benign Het
Tyw1 T A 5: 130,354,540 (GRCm39) I589N probably damaging Het
Usp40 C T 1: 87,927,592 (GRCm39) R139Q probably damaging Het
Zgrf1 A G 3: 127,378,414 (GRCm39) Y174C probably damaging 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
R3974:Serpina1f UTSW 12 103,659,830 (GRCm39) nonsense probably null
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 12 103,656,046 (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'- AGTTCACCACAGCCAGGAATG -3'
(R):5'- CCCGATTAGAGTCATTGCTGCC -3'

Sequencing Primer
(F):5'- AGGAATGTATCACTCTCCAGGTTC -3'
(R):5'- AGAGTCATTGCTGCCATTTCAATGC -3'
Posted On 2017-02-15