Incidental Mutation 'R6893:Serpina3b'
ID 538173
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 044987-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6893 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 104094255-104105804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104099285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 267 (K267E)
Ref Sequence ENSEMBL: ENSMUSP00000082127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085052]
AlphaFold Q8BYY9
Predicted Effect probably benign
Transcript: ENSMUST00000085052
AA Change: K267E

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: K267E

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 56 417 1.1e-153 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.7%
  • 20x: 95.2%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 T A 8: 25,368,770 (GRCm39) D538V probably damaging Het
Akap9 T C 5: 4,011,709 (GRCm39) I804T probably benign Het
Amy1 T C 3: 113,357,281 (GRCm39) E186G probably benign Het
Best1 A G 19: 9,974,446 (GRCm39) Y33H probably damaging Het
Cacna1s C A 1: 136,005,431 (GRCm39) N405K probably benign Het
Casp7 T C 19: 56,421,741 (GRCm39) Y60H probably damaging Het
Ccdc61 T C 7: 18,626,488 (GRCm39) N367S possibly damaging Het
Cnksr3 A T 10: 7,085,129 (GRCm39) probably null Het
Col14a1 A C 15: 55,308,044 (GRCm39) probably benign Het
Cyp3a57 A T 5: 145,323,784 (GRCm39) K424* probably null Het
Dnai3 T C 3: 145,786,184 (GRCm39) E366G probably damaging Het
Dpep3 T C 8: 106,700,474 (GRCm39) K411E probably benign Het
Ebf2 T A 14: 67,475,008 (GRCm39) V81E probably benign Het
Ehbp1 G T 11: 21,964,945 (GRCm39) T1084K probably damaging Het
Fastkd2 C T 1: 63,770,953 (GRCm39) A103V possibly damaging Het
Gtf3c2 T C 5: 31,323,722 (GRCm39) K525E probably benign Het
Hdac2 A G 10: 36,873,003 (GRCm39) E287G probably damaging Het
Ifi207 T A 1: 173,555,208 (GRCm39) T832S possibly damaging Het
Igf1 G C 10: 87,700,722 (GRCm39) V49L probably damaging Het
Lef1 A G 3: 130,909,149 (GRCm39) D55G possibly damaging Het
Lipo2 G T 19: 33,698,407 (GRCm39) Y323* probably null Het
Mettl24 C T 10: 40,613,794 (GRCm39) R178C probably damaging Het
Naa80 A G 9: 107,460,225 (GRCm39) E40G probably damaging Het
Ndrg4 C A 8: 96,433,229 (GRCm39) C66* probably null Het
Nemf A G 12: 69,399,110 (GRCm39) V140A probably benign Het
Nid2 T A 14: 19,839,855 (GRCm39) F815I probably benign Het
Or4c108 A G 2: 88,804,143 (GRCm39) F31L probably benign Het
Or5b106 A C 19: 13,123,106 (GRCm39) S306A probably benign Het
Or8b12c A C 9: 37,716,141 (GRCm39) *311C probably null Het
Or8b3b A T 9: 38,584,355 (GRCm39) N141K possibly damaging Het
Or8k30 A G 2: 86,339,136 (GRCm39) E111G probably damaging Het
Pcdhga3 T C 18: 37,809,598 (GRCm39) S684P probably benign Het
Plch1 A T 3: 63,660,562 (GRCm39) C352* probably null Het
Plscr2 G A 9: 92,172,757 (GRCm39) V139I probably benign Het
Ppa1 T A 10: 61,508,182 (GRCm39) C270S probably benign Het
Ryr2 T A 13: 11,844,540 (GRCm39) M399L possibly damaging Het
Scn3a A G 2: 65,356,098 (GRCm39) V212A possibly damaging Het
Shroom3 A G 5: 93,090,063 (GRCm39) T938A probably damaging Het
Specc1 A C 11: 62,023,279 (GRCm39) S115R probably benign Het
Stim2 C T 5: 54,210,787 (GRCm39) T74I probably benign Het
Sult6b2 T A 6: 142,750,025 (GRCm39) D31V possibly damaging Het
Tbc1d24 A T 17: 24,401,492 (GRCm39) W406R probably damaging Het
Tmprss11b A G 5: 86,811,245 (GRCm39) probably null Het
Trappc9 A G 15: 72,797,499 (GRCm39) Y575H possibly damaging Het
Trim63 C T 4: 134,050,412 (GRCm39) T232M probably damaging Het
Ttn A T 2: 76,598,180 (GRCm39) S19578T probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Xpo4 T A 14: 57,819,767 (GRCm39) E1139D 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
R0141:Serpina3b UTSW 12 104,097,030 (GRCm39) missense probably damaging 1.00
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
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'- GCCTCATCTTTAGCGGAATGG -3'
(R):5'- TCTGATGACACTTTAACCACTACAC -3'

Sequencing Primer
(F):5'- GATGGTGCCTTTTAACTCTGATGAC -3'
(R):5'- TAACCACTACACTAGACATAAGTGAG -3'
Posted On 2018-11-06