Incidental Mutation 'IGL02882:Serpina3f'
ID362827
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina3f
Ensembl Gene ENSMUSG00000066363
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 3F
Synonyms2A1, alpha-1 antiproteinasin, antitrypsin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02882
Quality Score
Status
Chromosome12
Chromosomal Location104214544-104221129 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104217004 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 42 (T42S)
Ref Sequence ENSEMBL: ENSMUSP00000126520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101080] [ENSMUST00000121337] [ENSMUST00000167049]
Predicted Effect probably damaging
Transcript: ENSMUST00000101080
AA Change: T42S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: T42S

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121337
AA Change: T42S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: T42S

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167049
AA Change: T42S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: T42S

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A T 9: 44,277,489 L469* probably null Het
Calr3 T A 8: 72,434,821 Y46F probably damaging Het
Clcn4 A G 7: 7,290,465 C491R probably damaging Het
Col6a5 G T 9: 105,934,321 D666E unknown Het
D130052B06Rik G A 11: 33,623,780 V126M probably damaging Het
Ddx27 A G 2: 167,027,913 I389M possibly damaging Het
Dgka T C 10: 128,733,384 I160V possibly damaging Het
E430018J23Rik A G 7: 127,392,252 Y188H probably damaging Het
Enpp6 T C 8: 47,030,532 S120P probably damaging Het
Ezh1 A G 11: 101,203,289 I459T probably benign Het
Fam91a1 A G 15: 58,453,061 probably benign Het
Foxn2 T C 17: 88,462,947 L74P probably damaging Het
Fscn2 T C 11: 120,362,499 V264A probably benign Het
Gmeb2 G A 2: 181,265,883 T54I probably damaging Het
Hmcn2 A T 2: 31,413,367 K3007* probably null Het
Ice1 A T 13: 70,624,474 probably benign Het
Lgi1 A G 19: 38,284,005 D84G probably benign Het
Mier2 T C 10: 79,547,721 I196V probably damaging Het
Nipal2 T C 15: 34,600,077 Y198C probably damaging Het
Npas2 A C 1: 39,312,996 S176R probably benign Het
Olfr914 A T 9: 38,606,938 I158F probably benign Het
Pam A C 1: 97,840,367 C713G probably damaging Het
Pcdh17 C A 14: 84,446,661 D189E probably damaging Het
Pcdhb8 T A 18: 37,356,223 I318N possibly damaging Het
Pcyt2 A G 11: 120,611,407 S300P possibly damaging Het
Pkdrej A G 15: 85,817,296 S1480P probably damaging Het
Plekhd1 G A 12: 80,719,007 probably null Het
Plxna2 A T 1: 194,762,570 S757C probably damaging Het
Prkdc A T 16: 15,651,519 K163* probably null Het
Sesn2 T C 4: 132,493,793 N456D probably benign Het
Tas2r105 A T 6: 131,687,180 L95Q possibly damaging Het
Tln1 A G 4: 43,539,522 V1600A probably benign Het
Zfp808 A G 13: 62,173,180 K741R probably benign Het
Other mutations in Serpina3f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Serpina3f APN 12 104217340 missense probably benign 0.44
IGL01375:Serpina3f APN 12 104220476 missense unknown
IGL01575:Serpina3f APN 12 104218440 missense probably damaging 1.00
IGL01712:Serpina3f APN 12 104218398 missense probably damaging 1.00
IGL02001:Serpina3f APN 12 104219466 missense probably damaging 1.00
IGL03145:Serpina3f APN 12 104217457 missense probably benign 0.06
R0158:Serpina3f UTSW 12 104217008 missense probably damaging 1.00
R0739:Serpina3f UTSW 12 104218353 missense probably damaging 1.00
R1667:Serpina3f UTSW 12 104217440 missense probably damaging 1.00
R1800:Serpina3f UTSW 12 104217406 missense probably damaging 1.00
R2010:Serpina3f UTSW 12 104217323 missense probably damaging 1.00
R2356:Serpina3f UTSW 12 104217367 nonsense probably null
R3926:Serpina3f UTSW 12 104219481 missense possibly damaging 0.58
R3959:Serpina3f UTSW 12 104217140 missense probably damaging 1.00
R4619:Serpina3f UTSW 12 104217290 missense possibly damaging 0.93
R4765:Serpina3f UTSW 12 104219431 missense probably benign 0.03
R4977:Serpina3f UTSW 12 104217055 missense probably benign 0.00
R4994:Serpina3f UTSW 12 104220356 missense probably benign 0.04
R5432:Serpina3f UTSW 12 104220318 missense possibly damaging 0.79
R5733:Serpina3f UTSW 12 104216923 missense possibly damaging 0.63
R7670:Serpina3f UTSW 12 104217266 missense probably damaging 1.00
R7727:Serpina3f UTSW 12 104218218 missense probably benign 0.37
R7754:Serpina3f UTSW 12 104217306 missense possibly damaging 0.69
X0028:Serpina3f UTSW 12 104217271 missense probably benign 0.03
Posted On2015-12-18