Incidental Mutation 'IGL02419:Serpina3n'
ID292565
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina3n
Ensembl Gene ENSMUSG00000021091
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 3N
Synonymsantitrypsin, Spi2/eb.4, alpha-1 antiproteinase, Spi2.2, Spi2-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.019) question?
Stock #IGL02419
Quality Score
Status
Chromosome12
Chromosomal Location104406729-104414329 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104413518 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 390 (V390A)
Ref Sequence ENSEMBL: ENSMUSP00000021506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021506]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021506
AA Change: V390A

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021506
Gene: ENSMUSG00000021091
AA Change: V390A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 7.64e-194 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T C 8: 87,586,099 F171L possibly damaging Het
Abca2 A G 2: 25,446,837 N2291D probably benign Het
Adamts9 A G 6: 92,796,997 V1145A probably benign Het
Adcy2 A G 13: 68,982,363 V135A probably benign Het
Akr1c14 A T 13: 4,080,617 probably null Het
Aptx G T 4: 40,691,032 A229E probably benign Het
Ash1l T C 3: 88,985,565 S1584P probably benign Het
Catsper3 A T 13: 55,808,068 T329S possibly damaging Het
Cntrl A G 2: 35,134,043 D27G probably damaging Het
Cobll1 A T 2: 65,151,048 I98K probably damaging Het
Ctdp1 T C 18: 80,420,584 K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 probably null Het
Cyp11b2 A T 15: 74,851,055 F498Y probably damaging Het
Dnpep A G 1: 75,315,688 I162T probably damaging Het
Efcab9 T C 11: 32,522,950 I166V probably benign Het
Ep400 A T 5: 110,697,376 probably null Het
Gata6 G A 18: 11,054,220 G50R probably damaging Het
Gm9631 G A 11: 121,943,652 Het
Grifin T C 5: 140,564,700 T20A probably benign Het
Hnf4a A T 2: 163,566,282 I352F probably damaging Het
Ifi204 T C 1: 173,749,380 T552A possibly damaging Het
Ifi205 C T 1: 174,017,614 A201T probably damaging Het
Kcnk6 A G 7: 29,225,202 V259A probably benign Het
Kif21b A G 1: 136,151,267 N451S probably benign Het
Klhl24 T A 16: 20,107,368 Y215* probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mical1 A G 10: 41,482,277 K429E possibly damaging Het
Misp A G 10: 79,827,871 probably benign Het
Mon2 T C 10: 123,016,447 N1007S probably benign Het
Olfr1420 A T 19: 11,896,822 Y267F probably benign Het
Olfr228 T A 2: 86,482,915 I276F probably damaging Het
Olfr307 C A 7: 86,335,662 V245F probably damaging Het
Olfr624 A T 7: 103,670,475 C185* probably null Het
Pex6 C A 17: 46,724,435 T840N possibly damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rapgef3 G T 15: 97,750,290 N679K probably benign Het
Sirpb1a A G 3: 15,426,338 F23S probably benign Het
Slc44a3 T C 3: 121,490,257 T449A probably benign Het
Smad6 G A 9: 63,953,518 probably benign Het
Sos2 C T 12: 69,616,990 M573I probably benign Het
St8sia1 A T 6: 142,828,935 I306N probably damaging Het
Tnks1bp1 T C 2: 85,071,781 S1674P possibly damaging Het
Trim47 G A 11: 116,106,201 R576W probably damaging Het
Wdr86 A T 5: 24,722,704 I79N probably damaging Het
Wwp2 T A 8: 107,549,815 V473D probably damaging Het
Zc3h12a T C 4: 125,119,788 T428A probably benign Het
Zfp592 A G 7: 81,038,245 E973G probably damaging Het
Other mutations in Serpina3n
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Serpina3n APN 12 104412345 missense probably benign 0.39
IGL01930:Serpina3n APN 12 104408972 missense probably damaging 1.00
IGL01989:Serpina3n APN 12 104413491 missense probably benign
R0098:Serpina3n UTSW 12 104413518 missense probably damaging 1.00
R0098:Serpina3n UTSW 12 104413518 missense probably damaging 1.00
R0149:Serpina3n UTSW 12 104411376 missense probably benign 0.03
R1872:Serpina3n UTSW 12 104408944 missense probably benign 0.33
R1879:Serpina3n UTSW 12 104408954 missense probably benign 0.16
R2018:Serpina3n UTSW 12 104409214 missense probably damaging 0.97
R2315:Serpina3n UTSW 12 104412368 missense possibly damaging 0.77
R2968:Serpina3n UTSW 12 104409074 missense probably benign 0.12
R2969:Serpina3n UTSW 12 104409074 missense probably benign 0.12
R2970:Serpina3n UTSW 12 104409074 missense probably benign 0.12
R3409:Serpina3n UTSW 12 104411277 missense possibly damaging 0.93
R3410:Serpina3n UTSW 12 104411277 missense possibly damaging 0.93
R3411:Serpina3n UTSW 12 104411277 missense possibly damaging 0.93
R4030:Serpina3n UTSW 12 104411401 critical splice donor site probably null
R4388:Serpina3n UTSW 12 104411357 missense probably benign 0.11
R4659:Serpina3n UTSW 12 104413493 missense probably benign 0.03
R4728:Serpina3n UTSW 12 104409163 missense probably benign
R4783:Serpina3n UTSW 12 104409110 missense possibly damaging 0.84
R5001:Serpina3n UTSW 12 104408739 missense probably benign 0.00
R5983:Serpina3n UTSW 12 104409029 missense probably damaging 1.00
R6767:Serpina3n UTSW 12 104409062 missense probably benign 0.01
X0027:Serpina3n UTSW 12 104411187 missense probably benign 0.00
X0067:Serpina3n UTSW 12 104411270 missense probably damaging 1.00
Posted On2015-04-16