Incidental Mutation 'IGL01375:Serpina3f'
ID78685
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: 0.060) question?
Stock #IGL01375
Quality Score
Status
Chromosome12
Chromosomal Location104214544-104221129 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 104220476 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 434 (V434I)
Ref Sequence ENSEMBL: ENSMUSP00000126520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101080] [ENSMUST00000121337] [ENSMUST00000167049]
Predicted Effect unknown
Transcript: ENSMUST00000101080
AA Change: V434I
SMART Domains Protein: ENSMUSP00000098641
Gene: ENSMUSG00000066363
AA Change: V434I

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Predicted Effect unknown
Transcript: ENSMUST00000121337
AA Change: V434I
SMART Domains Protein: ENSMUSP00000113945
Gene: ENSMUSG00000066363
AA Change: V434I

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Predicted Effect unknown
Transcript: ENSMUST00000167049
AA Change: V434I
SMART Domains Protein: ENSMUSP00000126520
Gene: ENSMUSG00000066363
AA Change: V434I

DomainStartEndE-ValueType
SERPIN 46 408 1.58e-186 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik A G 13: 98,984,142 probably benign Het
Anxa2 C T 9: 69,483,019 R68* probably null Het
Apc C T 18: 34,313,654 S1167L probably damaging Het
Aqp2 A G 15: 99,582,102 T149A possibly damaging Het
Asb8 T C 15: 98,141,309 E70G probably damaging Het
Carmil1 T C 13: 24,094,471 I172V possibly damaging Het
Cd38 A G 5: 43,903,597 M172V probably benign Het
Dyrk2 A G 10: 118,860,687 V222A probably damaging Het
Ephb6 T A 6: 41,615,911 probably benign Het
Fam208a A G 14: 27,440,163 R159G probably damaging Het
Fbxo15 T C 18: 84,958,279 S48P possibly damaging Het
Gsdma3 T C 11: 98,629,941 probably null Het
Htr1d A G 4: 136,443,173 T238A probably benign Het
Kcnh3 G A 15: 99,226,993 W108* probably null Het
Kdsr A T 1: 106,727,694 Y272N probably benign Het
Lrp2 A G 2: 69,478,566 probably benign Het
Nup210l G A 3: 90,159,893 V747M probably damaging Het
Olfr1200 A G 2: 88,767,466 V283A probably benign Het
Olfr1512 A G 14: 52,372,408 I215T probably damaging Het
Pfn3 T A 13: 55,414,828 R113S possibly damaging Het
Pik3r4 T C 9: 105,644,604 I123T possibly damaging Het
Plec A T 15: 76,176,440 I3121N probably damaging Het
Prepl C T 17: 85,071,991 G336D possibly damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prps1l1 A G 12: 34,985,632 T249A possibly damaging Het
Rptor T A 11: 119,896,436 F1276I possibly damaging Het
Slc25a12 T C 2: 71,308,050 probably benign Het
Slc4a4 T C 5: 89,179,734 C642R probably damaging Het
Slit2 C T 5: 48,281,714 probably benign Het
Tgfbr3 A G 5: 107,136,971 V604A probably benign Het
Tnfrsf1b T C 4: 145,225,416 Y126C probably damaging Het
Traf4 T C 11: 78,160,082 N416S probably benign Het
Trappc10 A G 10: 78,188,899 I1132T possibly damaging Het
Vps8 T A 16: 21,559,372 Y642* probably null Het
Wdr60 G T 12: 116,229,676 A552E possibly damaging Het
Other mutations in Serpina3f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Serpina3f APN 12 104217340 missense probably benign 0.44
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
IGL02882:Serpina3f APN 12 104217004 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 On2013-11-05