Incidental Mutation 'IGL03344:Serpina3c'
ID417366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina3c
Ensembl Gene ENSMUSG00000066361
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 3C
SynonymsKlkbp, Kalbp, 1A1, alpha-1 antiproteinase
Accession Numbers

Genbank: NM_008458; MGI: 102848

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03344
Quality Score
Status
Chromosome12
Chromosomal Location104146382-104153870 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104147264 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 408 (I408V)
Ref Sequence ENSEMBL: ENSMUSP00000082125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085050]
Predicted Effect probably benign
Transcript: ENSMUST00000085050
AA Change: I408V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000082125
Gene: ENSMUSG00000066361
AA Change: I408V

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 414 1.26e-194 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,248,376 I26N probably damaging Het
2410089E03Rik C A 15: 8,187,458 P720Q possibly damaging Het
AI314180 A C 4: 58,828,538 V965G probably damaging Het
Armc4 C A 18: 7,129,434 G915* probably null Het
Atxn7l1 A G 12: 33,326,066 N47D probably damaging Het
BC003331 T C 1: 150,363,544 E386G probably damaging Het
Cer1 A T 4: 82,884,825 W87R probably damaging Het
Chrna2 A G 14: 66,150,966 K477E probably damaging Het
Chtf8 G A 8: 106,886,272 P12S probably damaging Het
Deaf1 A T 7: 141,297,548 H555Q probably benign Het
Dopey1 T G 9: 86,536,144 I1975M probably damaging Het
Fsd2 C A 7: 81,559,909 V62L probably benign Het
Fxyd6 T G 9: 45,392,250 L81R probably benign Het
Htt T A 5: 34,879,828 S2086T probably benign Het
Htt T A 5: 34,907,466 S3008T probably benign Het
Mybbp1a G T 11: 72,445,202 R447L probably damaging Het
Nup210 A G 6: 91,021,429 V792A possibly damaging Het
Olfr342 T C 2: 36,528,128 S239P probably damaging Het
Olfr392 T A 11: 73,814,177 I302L probably benign Het
Prokr1 T C 6: 87,588,500 D121G possibly damaging Het
Puf60 A G 15: 76,070,380 V548A possibly damaging Het
Ska2 A G 11: 87,109,313 probably benign Het
Slc4a9 T A 18: 36,535,601 Y745N probably damaging Het
Speer4f1 A G 5: 17,480,334 E209G possibly damaging Het
Spg20 T C 3: 55,121,685 M299T probably benign Het
Tmem202 T C 9: 59,519,068 T272A possibly damaging Het
Vegfc T A 8: 54,157,151 I114N possibly damaging Het
Vmn1r61 T A 7: 5,610,494 T274S possibly damaging Het
Zfpm2 A G 15: 41,102,774 N753S probably benign Het
Zmym6 A G 4: 127,120,521 T624A probably damaging Het
Other mutations in Serpina3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00690:Serpina3c APN 12 104151939 missense possibly damaging 0.81
N/A:Serpina3c UTSW 12 104149605 missense probably benign 0.04
R0792:Serpina3c UTSW 12 104151546 missense probably damaging 1.00
R1522:Serpina3c UTSW 12 104151546 missense probably damaging 1.00
R1875:Serpina3c UTSW 12 104151886 missense probably damaging 1.00
R2168:Serpina3c UTSW 12 104149369 splice site probably null
R2207:Serpina3c UTSW 12 104151498 missense probably benign 0.00
R2887:Serpina3c UTSW 12 104147290 missense probably benign 0.03
R5115:Serpina3c UTSW 12 104147392 missense probably damaging 1.00
R5159:Serpina3c UTSW 12 104149512 missense possibly damaging 0.71
R5275:Serpina3c UTSW 12 104148378 missense probably damaging 1.00
R5295:Serpina3c UTSW 12 104148378 missense probably damaging 1.00
R5389:Serpina3c UTSW 12 104149440 missense possibly damaging 0.85
R5908:Serpina3c UTSW 12 104151711 missense probably benign 0.29
R6151:Serpina3c UTSW 12 104152068 missense possibly damaging 0.90
R6182:Serpina3c UTSW 12 104149431 missense probably benign 0.04
R6608:Serpina3c UTSW 12 104149624 missense probably benign 0.07
R6615:Serpina3c UTSW 12 104151721 missense possibly damaging 0.71
R6751:Serpina3c UTSW 12 104151500 missense probably damaging 1.00
R6777:Serpina3c UTSW 12 104151810 missense probably benign 0.26
R7232:Serpina3c UTSW 12 104149512 missense possibly damaging 0.71
R8129:Serpina3c UTSW 12 104151797 missense probably damaging 0.97
Posted On2016-08-02