Incidental Mutation 'IGL01868:Serpina1f'
ID 178595
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01868
Quality Score
Status
Chromosome 12
Chromosomal Location 103654303-103661788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103659704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 193 (N193Y)
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: N193Y

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000021490
Gene: ENSMUSG00000021081
AA Change: N193Y

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 409 7.69e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117053
AA Change: N193Y

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112533
Gene: ENSMUSG00000021081
AA Change: N193Y

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 354 1.23e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118101
AA Change: N193Y

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113736
Gene: ENSMUSG00000021081
AA Change: N193Y

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SERPIN 53 409 7.69e-85 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,547,218 (GRCm39) T569M possibly damaging Het
Aldh1l1 A T 6: 90,560,212 (GRCm39) K620* probably null Het
Amdhd2 G T 17: 24,376,504 (GRCm39) T346K probably damaging Het
Arhgap44 T C 11: 64,902,904 (GRCm39) D521G probably damaging Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Ccdc187 C A 2: 26,170,960 (GRCm39) R506L probably benign Het
Cd37 T C 7: 44,885,603 (GRCm39) Q128R probably benign Het
Cdh22 T A 2: 164,999,278 (GRCm39) M185L probably damaging Het
Cib2 A T 9: 54,455,759 (GRCm39) N68K probably damaging Het
Ddx46 C T 13: 55,787,683 (GRCm39) R96* probably null Het
Dnajc13 A T 9: 104,039,944 (GRCm39) H2050Q possibly damaging Het
Drgx C A 14: 32,330,334 (GRCm39) F150L probably damaging Het
Duox1 A G 2: 122,168,888 (GRCm39) H1172R probably benign Het
Eftud2 C T 11: 102,759,953 (GRCm39) V132I probably benign Het
Fcrl5 G A 3: 87,351,014 (GRCm39) D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Kat6a T C 8: 23,416,471 (GRCm39) F660L probably damaging Het
Lipo2 T C 19: 33,708,238 (GRCm39) M259V probably benign Het
Lrrcc1 T A 3: 14,619,417 (GRCm39) L90* probably null Het
Lsm1 G A 8: 26,283,821 (GRCm39) probably null Het
Luzp1 T C 4: 136,270,048 (GRCm39) I757T probably damaging Het
Micall1 A G 15: 78,999,260 (GRCm39) I76V probably benign Het
Mmp21 A T 7: 133,277,643 (GRCm39) D394E probably damaging Het
Mtfr1l T C 4: 134,258,018 (GRCm39) D68G probably null Het
Necab2 A G 8: 120,189,315 (GRCm39) S162G probably benign Het
Or11a4 A T 17: 37,536,043 (GRCm39) Q9L probably benign Het
Or4c100 T C 2: 88,356,059 (GRCm39) V44A possibly damaging Het
Or51b17 G A 7: 103,542,583 (GRCm39) R120* probably null Het
Or6n1 C T 1: 173,916,936 (GRCm39) T110I possibly damaging Het
Pde7b A T 10: 20,282,911 (GRCm39) C376* probably null Het
Pira12 G A 7: 3,900,174 (GRCm39) Q143* probably null Het
Plcb2 A G 2: 118,540,071 (GRCm39) L1074P probably damaging Het
Plcb2 G T 2: 118,541,868 (GRCm39) T914N probably benign Het
Prph C A 15: 98,954,224 (GRCm39) D207E probably damaging Het
Rbp4 C A 19: 38,112,968 (GRCm39) R37L probably damaging Het
Ryr3 T C 2: 112,633,503 (GRCm39) probably benign Het
Sardh T G 2: 27,117,159 (GRCm39) Q496P probably benign Het
Slc10a7 G A 8: 79,423,965 (GRCm39) probably null Het
Spg7 T C 8: 123,816,975 (GRCm39) probably null Het
Sphkap T C 1: 83,258,120 (GRCm39) probably null Het
Tas2r121 T A 6: 132,677,235 (GRCm39) I246L probably benign Het
Tbc1d9b T C 11: 50,052,460 (GRCm39) F889S probably damaging Het
Tcp10a T C 17: 7,597,263 (GRCm39) M140T possibly damaging Het
Tctn2 G A 5: 124,754,591 (GRCm39) noncoding transcript Het
Tfap2b G T 1: 19,284,506 (GRCm39) R138L probably damaging Het
Tnrc18 T C 5: 142,757,567 (GRCm39) T985A unknown Het
Treml1 G A 17: 48,673,035 (GRCm39) V211I probably benign Het
Ubr4 C T 4: 139,139,989 (GRCm39) Q1191* probably null Het
Vim G A 2: 13,583,249 (GRCm39) R217H possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r77 A G 7: 86,452,224 (GRCm39) D468G probably benign Het
Vmn2r98 G T 17: 19,286,548 (GRCm39) V349F probably benign Het
Vwa7 A T 17: 35,240,235 (GRCm39) E401V probably null Het
Zfp119b C A 17: 56,246,866 (GRCm39) V75L possibly damaging Het
Zfp287 C T 11: 62,606,083 (GRCm39) E275K probably benign 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
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 12 103,659,890 (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
Posted On 2014-05-07