Incidental Mutation 'R4736:Serpina1f'
ID 359280
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
MMRRC Submission 041963-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4736 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103654303-103661788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103659805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 159 (D159G)
Ref Sequence ENSEMBL: ENSMUSP00000112533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021490] [ENSMUST00000117053] [ENSMUST00000118101]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021490
AA Change: D159G

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021490
Gene: ENSMUSG00000021081
AA Change: D159G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 409 7.69e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117053
AA Change: D159G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112533
Gene: ENSMUSG00000021081
AA Change: D159G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 354 1.23e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118101
AA Change: D159G

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113736
Gene: ENSMUSG00000021081
AA Change: D159G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 409 7.69e-85 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,246 (GRCm39) I1145T probably damaging Het
Aadat T C 8: 60,993,140 (GRCm39) V360A probably benign Het
Abhd16a A T 17: 35,320,859 (GRCm39) T436S probably benign Het
Acbd5 G T 2: 22,989,596 (GRCm39) L406F probably damaging Het
Agrn G A 4: 156,256,858 (GRCm39) T1142M probably benign Het
Aig1 C A 10: 13,677,674 (GRCm39) W106L probably damaging Het
Akr1d1 T C 6: 37,534,535 (GRCm39) probably null Het
Ap1g1 G A 8: 110,581,714 (GRCm39) D658N possibly damaging Het
Arhgap45 A G 10: 79,862,006 (GRCm39) Y520C probably damaging Het
Arhgap5 A T 12: 52,565,860 (GRCm39) M944L probably benign Het
Asic5 C T 3: 81,907,116 (GRCm39) T47I possibly damaging Het
Cabp5 A G 7: 13,134,664 (GRCm39) probably null Het
Ccr6 A T 17: 8,474,896 (GRCm39) R34* probably null Het
Cdin1 A G 2: 115,412,369 (GRCm39) I2V probably benign Het
Clec4a2 T C 6: 123,117,622 (GRCm39) I180T probably damaging Het
Cmtr1 A G 17: 29,919,216 (GRCm39) E704G possibly damaging Het
Cyth3 G A 5: 143,670,234 (GRCm39) probably null Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dennd6b T C 15: 89,069,795 (GRCm39) H468R probably benign Het
Depdc5 A G 5: 33,132,666 (GRCm39) M1237V probably benign Het
Dpp6 A G 5: 27,917,657 (GRCm39) Y616C probably damaging Het
Dync2h1 A T 9: 7,006,862 (GRCm39) S3710T probably benign Het
Eif4g3 T A 4: 137,925,408 (GRCm39) S1584T probably benign Het
Emc3 G A 6: 113,508,310 (GRCm39) T45I possibly damaging Het
Esf1 T A 2: 139,966,891 (GRCm39) D685V probably damaging Het
Ezr A G 17: 7,008,975 (GRCm39) S366P probably benign Het
Gbe1 C T 16: 70,292,141 (GRCm39) A491V probably damaging Het
Haus6 A G 4: 86,518,986 (GRCm39) probably null Het
Heca G A 10: 17,790,935 (GRCm39) Q12* probably null Het
Hpdl T C 4: 116,678,221 (GRCm39) N80S probably damaging Het
Hydin A T 8: 111,249,840 (GRCm39) Q2261L probably benign Het
Itgae G T 11: 73,005,706 (GRCm39) R290L possibly damaging Het
Kcna10 C A 3: 107,102,808 (GRCm39) L480I probably benign Het
Kif27 T C 13: 58,476,785 (GRCm39) T622A probably benign Het
Lama2 T C 10: 27,080,925 (GRCm39) N966S probably damaging Het
Mdfic A G 6: 15,741,019 (GRCm39) K38E possibly damaging Het
Med25 G A 7: 44,541,712 (GRCm39) A26V probably damaging Het
Mrpl19 A T 6: 81,941,329 (GRCm39) S77R probably damaging Het
Mtcl2 T A 2: 156,862,474 (GRCm39) D1485V probably damaging Het
Mybpc2 T C 7: 44,161,971 (GRCm39) D493G probably damaging Het
Myh4 A G 11: 67,131,746 (GRCm39) T69A probably benign Het
Myo16 G T 8: 10,423,527 (GRCm39) G288W probably damaging Het
Myo9b T C 8: 71,809,236 (GRCm39) L1815P probably damaging Het
Myom2 T A 8: 15,131,271 (GRCm39) L323Q probably damaging Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nktr T A 9: 121,578,805 (GRCm39) probably benign Het
Nol10 A G 12: 17,405,288 (GRCm39) K88E probably damaging Het
Nol4 T C 18: 22,852,050 (GRCm39) D505G probably damaging Het
Nynrin T A 14: 56,101,454 (GRCm39) N374K probably damaging Het
Obscn A T 11: 58,954,362 (GRCm39) L3740Q probably damaging Het
Or5g23 T C 2: 85,438,327 (GRCm39) H309R probably benign Het
Otub2 T A 12: 103,359,103 (GRCm39) L64Q probably benign Het
Pgm5 G A 19: 24,812,169 (GRCm39) A121V probably damaging Het
Pi4ka A T 16: 17,195,039 (GRCm39) Y120N probably benign Het
Rpl36al G A 12: 69,229,732 (GRCm39) A60V possibly damaging Het
Rspo4 T C 2: 151,685,054 (GRCm39) Y21H probably benign Het
Scube2 A G 7: 109,430,412 (GRCm39) V455A probably benign Het
Sf1 A G 19: 6,415,694 (GRCm39) D11G probably damaging Het
Siglecg T C 7: 43,067,332 (GRCm39) F633S probably benign Het
Skic2 A G 17: 35,067,173 (GRCm39) S89P possibly damaging Het
Slc22a13 T C 9: 119,022,698 (GRCm39) E501G probably damaging Het
Slc44a3 A G 3: 121,303,855 (GRCm39) S294P probably damaging Het
Smad3 T G 9: 63,664,842 (GRCm39) K40Q probably damaging Het
Stt3a T A 9: 36,661,008 (GRCm39) M268L probably benign Het
Taf4 A T 2: 179,566,287 (GRCm39) V817E probably damaging Het
Tgfbr1 A G 4: 47,383,835 (GRCm39) T58A probably benign Het
Trpc6 T C 9: 8,609,871 (GRCm39) V113A probably damaging Het
Ttll13 T A 7: 79,898,024 (GRCm39) probably null Het
Uba7 T C 9: 107,857,364 (GRCm39) L742P probably benign Het
Ulk2 A G 11: 61,724,261 (GRCm39) L174P probably damaging Het
Unc5c A T 3: 141,522,692 (GRCm39) Y706F probably benign Het
Unc80 A T 1: 66,688,831 (GRCm39) probably null Het
Usp34 T A 11: 23,343,749 (GRCm39) probably null Het
Vmn1r71 A T 7: 10,481,791 (GRCm39) V233D possibly damaging Het
Xpo6 T C 7: 125,739,755 (GRCm39) K439R probably benign Het
Xrn1 G T 9: 95,915,689 (GRCm39) G1271C probably damaging Het
Yes1 A T 5: 32,818,121 (GRCm39) E386V probably damaging Het
Zfp759 C A 13: 67,287,408 (GRCm39) H320N probably damaging Het
Zfp990 A T 4: 145,263,512 (GRCm39) H170L possibly 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
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'- ATAAATCCCCTGGAGCCAGC -3'
(R):5'- GGGATCCAATGGCAACTTAAGC -3'

Sequencing Primer
(F):5'- AGCCAGCTCAGCCAAGTG -3'
(R):5'- TCCTGGAGACTCTAAGGTTCAAC -3'
Posted On 2015-11-11