Incidental Mutation 'R5463:Serpinb9'
ID 433116
Institutional Source Beutler Lab
Gene Symbol Serpinb9
Ensembl Gene ENSMUSG00000045827
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 9
Synonyms ovalbumin, PI-9, Spi6
MMRRC Submission 043025-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R5463 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 33187233-33201940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33199659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 318 (S318N)
Ref Sequence ENSEMBL: ENSMUSP00000099002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006391] [ENSMUST00000063191]
AlphaFold O08797
Predicted Effect probably damaging
Transcript: ENSMUST00000006391
AA Change: S318N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006391
Gene: ENSMUSG00000045827
AA Change: S318N

SERPIN 13 374 6.04e-174 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000063191
AA Change: S318N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099002
Gene: ENSMUSG00000045827
AA Change: S318N

SERPIN 13 374 6.04e-174 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous null mice show defective CTL immunity and clearance of LCMV. Following infection with LCMV or L. monocytogenes, mutant CTLs display a breakdown of cytotoxic granule integrity, increased cytoplasmic granzyme B, and reduced survival due to increased granzyme B-mediated apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A C 10: 115,406,104 (GRCm39) probably benign Het
Arhgap29 T A 3: 121,782,200 (GRCm39) S71T possibly damaging Het
BC048507 T C 13: 68,011,817 (GRCm39) Y65H probably damaging Het
C3 T C 17: 57,518,720 (GRCm39) E1221G probably benign Het
Calb1 G T 4: 15,885,656 (GRCm39) V76L probably benign Het
Crybg1 T A 10: 43,879,689 (GRCm39) K500* probably null Het
Csmd1 G A 8: 16,034,860 (GRCm39) T2437I probably benign Het
Cyp27b1 G A 10: 126,887,966 (GRCm39) V493I possibly damaging Het
Cyp3a44 T A 5: 145,740,554 (GRCm39) T29S probably benign Het
Dclk3 T C 9: 111,298,328 (GRCm39) V624A probably benign Het
Dnah6 T C 6: 73,069,140 (GRCm39) I2464V probably benign Het
Dock6 A T 9: 21,721,254 (GRCm39) probably null Het
Erap1 C T 13: 74,794,533 (GRCm39) T64I probably damaging Het
Erbb3 A T 10: 128,405,948 (GRCm39) Y1156* probably null Het
Fam168a G A 7: 100,484,602 (GRCm39) A231T probably benign Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fbxo30 T C 10: 11,166,813 (GRCm39) Y512H probably damaging Het
Gcnt2 A T 13: 41,071,650 (GRCm39) I98F possibly damaging Het
Got1 G A 19: 43,493,036 (GRCm39) T295I probably benign Het
Herc2 A G 7: 55,844,010 (GRCm39) E3538G probably damaging Het
Kcnmb4 A T 10: 116,309,410 (GRCm39) V6E probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Letmd1 C T 15: 100,367,009 (GRCm39) A2V probably damaging Het
Lynx1 G T 15: 74,623,462 (GRCm39) Y28* probably null Het
Mast1 T C 8: 85,652,136 (GRCm39) E304G probably damaging Het
Nipa1 G A 7: 55,629,205 (GRCm39) Q303* probably null Het
Nomo1 G A 7: 45,712,426 (GRCm39) R657H possibly damaging Het
Or51b4 C T 7: 103,530,541 (GRCm39) R303H probably benign Het
Pcdha7 T A 18: 37,108,628 (GRCm39) L551Q probably damaging Het
Pik3r4 T C 9: 105,525,930 (GRCm39) Y267H probably damaging Het
Pnliprp1 A G 19: 58,723,168 (GRCm39) D223G probably damaging Het
Prph G A 15: 98,953,281 (GRCm39) G65D probably benign Het
Pskh1 T C 8: 106,639,464 (GRCm39) L48P probably benign Het
Ptdss1 C A 13: 67,093,365 (GRCm39) N68K probably damaging Het
Rexo5 G A 7: 119,433,526 (GRCm39) G495R probably damaging Het
Ryr1 C A 7: 28,723,448 (GRCm39) A4204S possibly damaging Het
Slc22a8 G A 19: 8,586,638 (GRCm39) R383H probably benign Het
Trim26 A G 17: 37,162,016 (GRCm39) H145R probably damaging Het
Trps1 A T 15: 50,695,286 (GRCm39) Y286* probably null Het
Vmn1r181 A G 7: 23,683,787 (GRCm39) N84S probably benign Het
Wdfy4 G T 14: 32,873,689 (GRCm39) Q207K probably benign Het
Whrn G A 4: 63,351,053 (GRCm39) T427I probably benign Het
Other mutations in Serpinb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Serpinb9 APN 13 33,190,673 (GRCm39) missense probably damaging 1.00
IGL03385:Serpinb9 APN 13 33,191,979 (GRCm39) splice site probably benign
R0173:Serpinb9 UTSW 13 33,194,705 (GRCm39) missense probably benign 0.03
R1586:Serpinb9 UTSW 13 33,199,469 (GRCm39) missense probably benign 0.00
R3708:Serpinb9 UTSW 13 33,192,002 (GRCm39) missense possibly damaging 0.89
R3853:Serpinb9 UTSW 13 33,199,503 (GRCm39) missense possibly damaging 0.70
R3903:Serpinb9 UTSW 13 33,194,793 (GRCm39) missense possibly damaging 0.78
R4117:Serpinb9 UTSW 13 33,199,579 (GRCm39) missense probably benign 0.26
R4903:Serpinb9 UTSW 13 33,192,847 (GRCm39) missense probably damaging 1.00
R4964:Serpinb9 UTSW 13 33,192,847 (GRCm39) missense probably damaging 1.00
R4966:Serpinb9 UTSW 13 33,192,847 (GRCm39) missense probably damaging 1.00
R5140:Serpinb9 UTSW 13 33,190,544 (GRCm39) missense probably benign 0.03
R6165:Serpinb9 UTSW 13 33,192,807 (GRCm39) missense possibly damaging 0.81
R7510:Serpinb9 UTSW 13 33,194,768 (GRCm39) missense probably damaging 0.99
R7511:Serpinb9 UTSW 13 33,192,054 (GRCm39) missense probably benign 0.12
R9069:Serpinb9 UTSW 13 33,199,579 (GRCm39) missense probably benign 0.26
R9128:Serpinb9 UTSW 13 33,190,686 (GRCm39) missense possibly damaging 0.81
R9238:Serpinb9 UTSW 13 33,199,479 (GRCm39) missense probably benign 0.01
R9409:Serpinb9 UTSW 13 33,192,797 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-06