Incidental Mutation 'R0141:Serpina3b'
ID 22336
Institutional Source Beutler Lab
Gene Symbol Serpina3b
Ensembl Gene ENSMUSG00000066364
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 3B
Synonyms alpha-1 antiproteinase, 6A1, antitrypsin, A030003A19Rik
MMRRC Submission 038426-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0141 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 104094255-104105804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104097030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 104 (N104Y)
Ref Sequence ENSEMBL: ENSMUSP00000082127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085052]
AlphaFold Q8BYY9
Predicted Effect probably damaging
Transcript: ENSMUST00000085052
AA Change: N104Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: N104Y

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 56 417 1.1e-153 SMART
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.9%
Validation Efficiency 88% (50/57)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A C 13: 91,919,947 (GRCm39) D294A probably benign Het
Adamts9 T C 6: 92,920,066 (GRCm39) D24G probably benign Het
Ahnak G A 19: 8,984,044 (GRCm39) G1776D probably damaging Het
Arfgef3 C A 10: 18,473,155 (GRCm39) C1636F probably damaging Het
AW551984 A G 9: 39,501,940 (GRCm39) L722P probably damaging Het
Ccndbp1 T A 2: 120,842,903 (GRCm39) M188K probably damaging Het
Col27a1 A T 4: 63,183,870 (GRCm39) probably null Het
Cpt1c A G 7: 44,616,095 (GRCm39) Y306H probably damaging Het
Cyp3a57 A G 5: 145,298,912 (GRCm39) I71V probably benign Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dmrt2 A T 19: 25,655,655 (GRCm39) Q418L possibly damaging Het
Ebf1 T C 11: 44,798,827 (GRCm39) L284S probably damaging Het
Fam131a G A 16: 20,517,738 (GRCm39) A15T probably benign Het
Fbxo17 A G 7: 28,432,916 (GRCm39) T146A possibly damaging Het
Fer1l6 A G 15: 58,430,251 (GRCm39) E226G probably damaging Het
Galnt18 A T 7: 111,198,238 (GRCm39) I174N probably damaging Het
Gm44501 T C 17: 40,889,744 (GRCm39) I86T probably benign Het
Gtsf1l T C 2: 162,929,246 (GRCm39) Q79R probably benign Het
Hapln4 T C 8: 70,540,930 (GRCm39) L321P probably damaging Het
Herc2 A G 7: 55,771,309 (GRCm39) T1024A probably benign Het
Hps5 A G 7: 46,438,605 (GRCm39) S43P probably damaging Het
Igsf10 A G 3: 59,238,253 (GRCm39) Y643H probably damaging Het
Lama4 G A 10: 38,968,274 (GRCm39) R1472H probably benign Het
Lhx9 A G 1: 138,767,744 (GRCm39) Y73H possibly damaging Het
Loxl1 T A 9: 58,219,415 (GRCm39) Q252L probably damaging Het
Lrrc37 A C 11: 103,504,512 (GRCm39) I2485M probably damaging Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nr3c2 T A 8: 77,635,037 (GRCm39) V46D probably damaging Het
Or11h4 T C 14: 50,973,840 (GRCm39) S260G possibly damaging Het
Or4k77 T A 2: 111,199,835 (GRCm39) I286N probably damaging Het
Or5i1 C G 2: 87,613,049 (GRCm39) P55R possibly damaging Het
Or5p63 A C 7: 107,811,210 (GRCm39) N175K possibly damaging Het
Or5p70 A T 7: 107,994,575 (GRCm39) N83Y probably benign Het
Osbp T C 19: 11,951,223 (GRCm39) V256A possibly damaging Het
Pclo A T 5: 14,841,936 (GRCm39) D4737V unknown Het
Pkdrej A G 15: 85,699,831 (GRCm39) I2035T probably damaging Het
Plek2 A G 12: 78,941,278 (GRCm39) S185P probably damaging Het
Pnpla6 G T 8: 3,582,117 (GRCm39) probably null Het
Pou3f2 T C 4: 22,487,210 (GRCm39) T308A possibly damaging Het
Pramel22 T C 4: 143,381,138 (GRCm39) Y295C probably benign Het
Pxmp4 A G 2: 154,434,215 (GRCm39) V82A probably damaging Het
Rnf6 A T 5: 146,148,645 (GRCm39) N135K possibly damaging Het
Rtl1 A G 12: 109,559,382 (GRCm39) V819A probably damaging Het
Scn1a C A 2: 66,119,406 (GRCm39) V1355L probably damaging Het
Scn2a T A 2: 65,542,160 (GRCm39) N754K probably benign Het
Sh3rf2 T C 18: 42,289,122 (GRCm39) S648P probably benign Het
Slc17a6 G A 7: 51,318,815 (GRCm39) V486I probably benign Het
Spata31e2 A T 1: 26,722,863 (GRCm39) N772K probably benign Het
Syne2 T G 12: 75,988,072 (GRCm39) D1743E probably damaging Het
Tex14 T G 11: 87,383,857 (GRCm39) probably null Het
Tfb1m T C 17: 3,605,232 (GRCm39) D87G probably damaging Het
Tll2 C T 19: 41,086,351 (GRCm39) G609S probably damaging Het
Tsc22d2 A T 3: 58,324,577 (GRCm39) probably benign Het
Tsen2 A G 6: 115,545,790 (GRCm39) D360G probably damaging Het
Ugt2b37 G A 5: 87,388,842 (GRCm39) P457L probably damaging Het
Vmn1r68 T C 7: 10,261,252 (GRCm39) N282S possibly damaging Het
Vmn2r58 G A 7: 41,511,309 (GRCm39) S498F probably benign Het
Zfp959 T C 17: 56,205,139 (GRCm39) I392T probably benign Het
Other mutations in Serpina3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Serpina3b APN 12 104,105,046 (GRCm39) missense probably benign 0.03
IGL00427:Serpina3b APN 12 104,099,200 (GRCm39) missense probably benign 0.06
IGL01637:Serpina3b APN 12 104,099,216 (GRCm39) missense probably benign 0.00
IGL01738:Serpina3b APN 12 104,097,091 (GRCm39) missense probably damaging 1.00
IGL02403:Serpina3b APN 12 104,096,721 (GRCm39) start codon destroyed probably null 1.00
IGL03118:Serpina3b APN 12 104,097,313 (GRCm39) missense probably benign 0.22
R0217:Serpina3b UTSW 12 104,096,986 (GRCm39) missense probably damaging 1.00
R0437:Serpina3b UTSW 12 104,096,929 (GRCm39) missense probably damaging 1.00
R1295:Serpina3b UTSW 12 104,097,138 (GRCm39) missense probably damaging 1.00
R1463:Serpina3b UTSW 12 104,104,969 (GRCm39) missense probably benign 0.02
R1802:Serpina3b UTSW 12 104,104,896 (GRCm39) missense probably damaging 1.00
R2104:Serpina3b UTSW 12 104,105,069 (GRCm39) missense probably benign 0.01
R3871:Serpina3b UTSW 12 104,105,047 (GRCm39) missense probably damaging 1.00
R4720:Serpina3b UTSW 12 104,096,889 (GRCm39) missense possibly damaging 0.80
R5827:Serpina3b UTSW 12 104,097,036 (GRCm39) missense probably benign 0.02
R5970:Serpina3b UTSW 12 104,100,350 (GRCm39) missense possibly damaging 0.82
R6014:Serpina3b UTSW 12 104,097,356 (GRCm39) missense possibly damaging 0.93
R6102:Serpina3b UTSW 12 104,100,428 (GRCm39) missense probably benign 0.00
R6673:Serpina3b UTSW 12 104,096,928 (GRCm39) missense probably damaging 0.96
R6807:Serpina3b UTSW 12 104,099,251 (GRCm39) missense probably benign 0.00
R6836:Serpina3b UTSW 12 104,100,341 (GRCm39) missense probably benign 0.30
R6893:Serpina3b UTSW 12 104,099,285 (GRCm39) missense probably benign 0.04
R7414:Serpina3b UTSW 12 104,099,145 (GRCm39) missense probably benign 0.03
R7539:Serpina3b UTSW 12 104,096,970 (GRCm39) missense possibly damaging 0.75
R7748:Serpina3b UTSW 12 104,096,722 (GRCm39) start codon destroyed probably null 1.00
R7817:Serpina3b UTSW 12 104,099,223 (GRCm39) missense probably benign 0.01
R8040:Serpina3b UTSW 12 104,097,335 (GRCm39) missense probably benign 0.00
R8143:Serpina3b UTSW 12 104,096,793 (GRCm39) missense probably benign 0.06
R8360:Serpina3b UTSW 12 104,104,962 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTAGGAATGCACAATGCAGTCCAG -3'
(R):5'- TGAAGACCTCAGTGTGGTACAGAGC -3'

Sequencing Primer
(F):5'- ACTGGACAGTTTAACACTGGC -3'
(R):5'- CAGTGTGGTACAGAGCCCTTG -3'
Posted On 2013-04-16