Incidental Mutation 'IGL02403:Serpina3b'
ID 291948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina3b
Ensembl Gene ENSMUSG00000066364
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3B
Synonyms antitrypsin, A030003A19Rik, alpha-1 antiproteinase, 6A1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL02403
Quality Score
Status
Chromosome 12
Chromosomal Location 104127996-104139545 bp(+) (GRCm38)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 104130462 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000082127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085052]
AlphaFold Q8BYY9
Predicted Effect probably null
Transcript: ENSMUST00000085052
AA Change: M1V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: M1V

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 56 417 1.1e-153 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A G 4: 35,205,887 probably benign Het
4932438A13Rik T C 3: 37,030,664 S3922P probably benign Het
Abcc8 A G 7: 46,105,803 probably null Het
Alk C A 17: 71,901,393 G944V probably damaging Het
Alox15 T C 11: 70,345,901 D446G probably damaging Het
Apof A G 10: 128,269,484 probably null Het
Arhgap28 T G 17: 67,873,159 D81A possibly damaging Het
Bms1 T C 6: 118,405,224 E451G possibly damaging Het
Capn13 T A 17: 73,351,426 T216S possibly damaging Het
Ccdc28a A T 10: 18,214,183 probably benign Het
Cdip1 T C 16: 4,768,812 T150A probably damaging Het
Chrnb3 T A 8: 27,393,808 L191Q probably damaging Het
Chst2 G A 9: 95,405,232 Q354* probably null Het
Cldn11 T C 3: 31,150,196 V16A probably benign Het
Cyp4f18 A G 8: 71,998,228 M198T probably damaging Het
Dhx30 A G 9: 110,091,519 L280P probably damaging Het
Disc1 A G 8: 125,135,519 probably benign Het
Dnm1l T C 16: 16,336,976 I172V possibly damaging Het
Edem2 T C 2: 155,709,063 D328G possibly damaging Het
Fbxo10 G A 4: 45,062,517 T3M probably benign Het
Fdxacb1 T A 9: 50,771,563 S275R possibly damaging Het
Gm7275 C A 16: 48,073,628 noncoding transcript Het
Helz2 A T 2: 181,231,022 I2468N probably damaging Het
Ift46 C A 9: 44,786,879 P213Q probably damaging Het
Irf2 G T 8: 46,846,172 V334F probably damaging Het
Lrp4 T A 2: 91,508,582 V1786E probably benign Het
Mfsd5 A G 15: 102,280,538 Y115C probably benign Het
Muc5ac A G 7: 141,803,450 R1154G possibly damaging Het
Nek4 G T 14: 30,964,051 E314* probably null Het
Oas2 C T 5: 120,748,750 G117D possibly damaging Het
Olfr1057 A T 2: 86,374,523 D296E probably benign Het
Pikfyve C T 1: 65,244,504 H767Y probably damaging Het
Pkhd1 T C 1: 20,562,418 H591R probably benign Het
Pygl T A 12: 70,194,258 I672F probably benign Het
Rft1 G T 14: 30,660,321 probably benign Het
Ripor3 A C 2: 167,989,330 L517R probably damaging Het
Sgce C T 6: 4,694,059 R263Q probably damaging Het
Stard6 A T 18: 70,496,112 probably null Het
Them4 T C 3: 94,323,671 F117L probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttc26 A G 6: 38,409,438 M365V possibly damaging Het
Vmn2r116 G T 17: 23,387,364 D417Y probably damaging Het
Other mutations in Serpina3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Serpina3b APN 12 104138787 missense probably benign 0.03
IGL00427:Serpina3b APN 12 104132941 missense probably benign 0.06
IGL01637:Serpina3b APN 12 104132957 missense probably benign 0.00
IGL01738:Serpina3b APN 12 104130832 missense probably damaging 1.00
IGL03118:Serpina3b APN 12 104131054 missense probably benign 0.22
R0141:Serpina3b UTSW 12 104130771 missense probably damaging 1.00
R0217:Serpina3b UTSW 12 104130727 missense probably damaging 1.00
R0437:Serpina3b UTSW 12 104130670 missense probably damaging 1.00
R1295:Serpina3b UTSW 12 104130879 missense probably damaging 1.00
R1463:Serpina3b UTSW 12 104138710 missense probably benign 0.02
R1802:Serpina3b UTSW 12 104138637 missense probably damaging 1.00
R2104:Serpina3b UTSW 12 104138810 missense probably benign 0.01
R3871:Serpina3b UTSW 12 104138788 missense probably damaging 1.00
R4720:Serpina3b UTSW 12 104130630 missense possibly damaging 0.80
R5827:Serpina3b UTSW 12 104130777 missense probably benign 0.02
R5970:Serpina3b UTSW 12 104134091 missense possibly damaging 0.82
R6014:Serpina3b UTSW 12 104131097 missense possibly damaging 0.93
R6102:Serpina3b UTSW 12 104134169 missense probably benign 0.00
R6673:Serpina3b UTSW 12 104130669 missense probably damaging 0.96
R6807:Serpina3b UTSW 12 104132992 missense probably benign 0.00
R6836:Serpina3b UTSW 12 104134082 missense probably benign 0.30
R6893:Serpina3b UTSW 12 104133026 missense probably benign 0.04
R7414:Serpina3b UTSW 12 104132886 missense probably benign 0.03
R7539:Serpina3b UTSW 12 104130711 missense possibly damaging 0.75
R7748:Serpina3b UTSW 12 104130463 start codon destroyed probably null 1.00
R7817:Serpina3b UTSW 12 104132964 missense probably benign 0.01
R8040:Serpina3b UTSW 12 104131076 missense probably benign 0.00
R8143:Serpina3b UTSW 12 104130534 missense probably benign 0.06
R8360:Serpina3b UTSW 12 104138703 missense probably benign 0.00
Posted On 2015-04-16