Incidental Mutation 'IGL01989:Serpina3n'
ID182802
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? Non essential (E-score: 0.000) question?
Stock #IGL01989
Quality Score
Status
Chromosome12
Chromosomal Location104406729-104414329 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 104413491 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 381 (M381K)
Ref Sequence ENSEMBL: ENSMUSP00000021506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021506]
Predicted Effect probably benign
Transcript: ENSMUST00000021506
AA Change: M381K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021506
Gene: ENSMUSG00000021091
AA Change: M381K

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,986,270 V8D probably damaging Het
Asb15 A G 6: 24,565,944 T299A probably damaging Het
Asph A T 4: 9,602,462 probably benign Het
Cadm3 G A 1: 173,338,011 probably benign Het
Cep164 G A 9: 45,793,015 probably benign Het
Ces2c C A 8: 104,849,743 N129K probably damaging Het
Chdh C A 14: 30,031,731 P199Q possibly damaging Het
Dnah7b T C 1: 46,289,534 V3142A probably damaging Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Dock2 G T 11: 34,268,053 N1172K probably benign Het
Dppa5a T A 9: 78,367,821 E66D probably benign Het
F5 A G 1: 164,176,307 S224G probably benign Het
Fign T C 2: 63,980,450 T159A probably benign Het
Fsip2 A T 2: 82,993,867 D6648V probably damaging Het
Gbp2b A T 3: 142,611,440 E519V probably benign Het
Hdac10 A G 15: 89,125,343 L462P probably damaging Het
Hecw2 A G 1: 53,840,792 L1286S probably damaging Het
Hnrnpll A G 17: 80,038,740 V364A probably benign Het
Hnrnpul2 A G 19: 8,823,628 T282A probably damaging Het
Il12a T A 3: 68,691,576 probably benign Het
Insl5 C A 4: 103,026,641 V28L probably benign Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Lrfn2 A G 17: 49,071,085 D398G probably damaging Het
Lrp1 C T 10: 127,578,129 D1137N probably damaging Het
Mettl18 C A 1: 163,996,303 D64E probably benign Het
Mrpl3 A G 9: 105,071,479 T245A probably benign Het
Mrps18c C A 5: 100,801,909 P52Q probably damaging Het
Myh3 A T 11: 67,086,655 D377V probably damaging Het
N4bp1 C A 8: 86,848,487 V727L probably damaging Het
Npffr2 A G 5: 89,582,972 T254A probably benign Het
Nsfl1c C A 2: 151,500,729 T73K probably damaging Het
Olfr160 C T 9: 37,711,836 V148I probably damaging Het
Plxna1 C T 6: 89,329,414 W1442* probably null Het
Shank3 C T 15: 89,503,299 probably benign Het
Smtnl1 T C 2: 84,818,470 N147D probably benign Het
Sprr2j-ps T C 3: 92,419,105 S96P unknown Het
Ssh2 A G 11: 77,453,685 E832G possibly damaging Het
Stxbp1 T C 2: 32,812,064 D207G probably benign Het
Sult1c1 A T 17: 53,974,027 M16K probably benign Het
Tmem247 A G 17: 86,918,291 E53G probably damaging Het
Tmem86a A T 7: 47,053,439 I105F probably benign Het
Tph2 A G 10: 115,146,016 S304P probably benign Het
Ttn T C 2: 76,778,539 D17711G probably damaging Het
Urb1 A T 16: 90,769,586 probably benign Het
Vcan T A 13: 89,689,359 I1729L possibly damaging Het
Vmn2r90 T A 17: 17,713,232 Y351* probably null Het
Wfdc5 C T 2: 164,178,731 probably null Het
Wnt3 G A 11: 103,812,407 D239N probably benign Het
Zbtb8b T A 4: 129,432,388 E295V probably damaging Het
Zfp458 T C 13: 67,259,627 T52A 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
IGL02419:Serpina3n APN 12 104413518 missense possibly damaging 0.95
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
R7001:Serpina3n UTSW 12 104408925 missense probably benign 0.00
R7468:Serpina3n UTSW 12 104411397 missense probably benign 0.16
X0027:Serpina3n UTSW 12 104411187 missense probably benign 0.00
X0067:Serpina3n UTSW 12 104411270 missense probably damaging 1.00
Posted On2014-05-07