Incidental Mutation 'R0217:Serpina3b'
ID 33632
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 038466-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0217 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 12
Chromosomal Location 104094255-104105804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104096986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 89 (A89V)
Ref Sequence ENSEMBL: ENSMUSP00000082127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085052]
AlphaFold Q8BYY9
Predicted Effect probably damaging
Transcript: ENSMUST00000085052
AA Change: A89V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082127
Gene: ENSMUSG00000066364
AA Change: A89V

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
SERPIN 56 417 1.1e-153 SMART
Meta Mutation Damage Score 0.8304 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 T C 7: 143,447,956 (GRCm39) probably benign Het
Actr3 A G 1: 125,335,150 (GRCm39) probably benign Het
Adamts13 A G 2: 26,886,933 (GRCm39) probably benign Het
Afap1l1 A G 18: 61,879,940 (GRCm39) V310A probably damaging Het
Alms1 T A 6: 85,599,912 (GRCm39) S2048R probably damaging Het
Aspm T A 1: 139,385,618 (GRCm39) S421T possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccdc150 T G 1: 54,339,589 (GRCm39) S478A possibly damaging Het
Ccnyl1 T A 1: 64,752,257 (GRCm39) probably benign Het
Cdc23 T C 18: 34,784,718 (GRCm39) T15A unknown Het
Cdk19 C T 10: 40,352,254 (GRCm39) probably benign Het
Comp A C 8: 70,831,558 (GRCm39) D420A probably damaging Het
Ctnnal1 T C 4: 56,813,230 (GRCm39) H667R probably benign Het
Cyp20a1 C A 1: 60,382,625 (GRCm39) probably benign Het
Eci3 A C 13: 35,132,072 (GRCm39) S259A probably benign Het
Fcnb T C 2: 27,969,689 (GRCm39) D126G probably benign Het
Foxk1 T C 5: 142,387,649 (GRCm39) M124T possibly damaging Het
Gm12790 T C 4: 101,825,231 (GRCm39) Y61C probably damaging Het
Hmgcr A C 13: 96,788,488 (GRCm39) I777S probably damaging Het
Hsdl2 A G 4: 59,597,311 (GRCm39) E100G probably damaging Het
Itgb2 G T 10: 77,384,370 (GRCm39) probably benign Het
Jak2 T A 19: 29,274,050 (GRCm39) probably null Het
Lrba T C 3: 86,550,029 (GRCm39) S2333P probably damaging Het
Man1a2 A G 3: 100,524,353 (GRCm39) L365P possibly damaging Het
Map2k5 A T 9: 63,164,257 (GRCm39) probably null Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Megf8 T A 7: 25,063,504 (GRCm39) L2620Q probably damaging Het
Nf1 A T 11: 79,319,400 (GRCm39) probably benign Het
Or11h7 A G 14: 50,891,552 (GRCm39) N286S probably damaging Het
Or1e30 T A 11: 73,678,214 (GRCm39) V150E possibly damaging Het
Or5p1 C A 7: 107,916,505 (GRCm39) H135N probably benign Het
Pank3 T A 11: 35,668,555 (GRCm39) D181E probably benign Het
Pip5k1a A G 3: 94,981,302 (GRCm39) probably null Het
Plag1 A C 4: 3,904,379 (GRCm39) S271A probably benign Het
Plxna2 T A 1: 194,326,906 (GRCm39) I280N probably damaging Het
Polr1a T C 6: 71,940,687 (GRCm39) V1007A probably benign Het
Ppm1h T A 10: 122,756,640 (GRCm39) D428E probably damaging Het
Prelid2 A T 18: 42,068,317 (GRCm39) probably benign Het
Ptk2b T C 14: 66,393,830 (GRCm39) Y881C probably damaging Het
Rptor T C 11: 119,785,738 (GRCm39) probably benign Het
Sbno1 T C 5: 124,542,387 (GRCm39) probably null Het
Scaf4 T C 16: 90,039,570 (GRCm39) D843G probably damaging Het
Serpinb9d C A 13: 33,382,005 (GRCm39) T158N possibly damaging Het
Slc39a10 C T 1: 46,874,700 (GRCm39) V201I probably benign Het
Slc6a13 T A 6: 121,301,279 (GRCm39) N189K probably damaging Het
Smco1 G T 16: 32,092,599 (GRCm39) R90L possibly damaging Het
Stim1 T A 7: 102,085,007 (GRCm39) M653K probably benign Het
Stxbp1 T C 2: 32,691,882 (GRCm39) S437G possibly damaging Het
Stxbp3-ps T G 19: 9,536,496 (GRCm39) noncoding transcript Het
Tgtp1 A C 11: 48,878,146 (GRCm39) S186R probably benign Het
Trpc7 C T 13: 56,937,581 (GRCm39) W570* probably null Het
Trpv4 C A 5: 114,772,722 (GRCm39) R289L possibly damaging Het
Vmn2r82 A G 10: 79,214,634 (GRCm39) M206V possibly damaging Het
Wdr47 T A 3: 108,544,336 (GRCm39) V653E probably damaging Het
Zfp113 T C 5: 138,148,953 (GRCm39) R64G probably benign Het
Zfp661 C T 2: 127,419,211 (GRCm39) E310K probably damaging Het
Zfp735 T A 11: 73,602,112 (GRCm39) I352N possibly damaging Het
Zswim4 A G 8: 84,939,293 (GRCm39) L863P probably damaging Het
Zzef1 T A 11: 72,779,894 (GRCm39) I1889N probably damaging 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
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'- TGCAGTCCAGAAAGGCCAG -3'
(R):5'- TGAACTCTGCCAGGATCTGC -3'
Posted On 2013-05-09