Incidental Mutation 'R3853:Serpinb9'
ID 276028
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 040900-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R3853 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 33187233-33201940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33199503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 266 (E266G)
Ref Sequence ENSEMBL: ENSMUSP00000099002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006391] [ENSMUST00000063191]
AlphaFold O08797
Predicted Effect possibly damaging
Transcript: ENSMUST00000006391
AA Change: E266G

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000006391
Gene: ENSMUSG00000045827
AA Change: E266G

DomainStartEndE-ValueType
SERPIN 13 374 6.04e-174 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000063191
AA Change: E266G

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099002
Gene: ENSMUSG00000045827
AA Change: E266G

DomainStartEndE-ValueType
SERPIN 13 374 6.04e-174 SMART
Meta Mutation Damage Score 0.3054 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.4%
Validation Efficiency 96% (47/49)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,055,976 (GRCm39) H316L probably damaging Het
Cadps A G 14: 12,509,090 (GRCm38) probably benign Het
Cluh A G 11: 74,547,279 (GRCm39) D44G probably benign Het
Copb1 A G 7: 113,822,551 (GRCm39) V726A probably damaging Het
Dsg4 T C 18: 20,582,291 (GRCm39) V79A probably benign Het
Exo1 A T 1: 175,720,554 (GRCm39) I291F probably benign Het
Eya4 C T 10: 22,992,574 (GRCm39) A460T probably damaging Het
Gjd3 G T 11: 102,690,952 (GRCm39) D350E probably benign Het
Hcar2 T C 5: 124,002,475 (GRCm39) M343V probably benign Het
Ifna15 T C 4: 88,476,046 (GRCm39) Y146C probably damaging Het
Lce3e C T 3: 92,875,139 (GRCm39) Q32* probably null Het
Llgl1 T C 11: 60,598,075 (GRCm39) L373P probably damaging Het
Mark2 A G 19: 7,254,655 (GRCm39) C642R probably damaging Het
Mbd3l2 A G 9: 18,356,092 (GRCm39) Q139R probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Nynrin T A 14: 56,101,562 (GRCm39) N410K probably benign Het
Or10g7 A T 9: 39,905,450 (GRCm39) T115S probably damaging Het
Or4a71 A T 2: 89,357,917 (GRCm39) M279K possibly damaging Het
Or5b112 A G 19: 13,319,862 (GRCm39) T247A possibly damaging Het
Or7a38 T A 10: 78,752,781 (GRCm39) Y36N probably damaging Het
Or8b1 G T 9: 38,400,247 (GRCm39) R307S probably benign Het
Padi3 T C 4: 140,518,580 (GRCm39) probably benign Het
Prkce A G 17: 86,476,277 (GRCm39) D86G probably damaging Het
Pwwp3b C T X: 138,137,403 (GRCm39) probably null Het
Rad21 T G 15: 51,835,712 (GRCm39) I234L probably benign Het
Scn4a A T 11: 106,210,932 (GRCm39) M1695K possibly damaging Het
Sdccag8 T C 1: 176,681,361 (GRCm39) S325P probably damaging Het
Sebox G A 11: 78,394,975 (GRCm39) G106R probably benign Het
Shoc1 T C 4: 59,047,390 (GRCm39) N1410D possibly damaging Het
Snx14 T C 9: 88,289,372 (GRCm39) probably benign Het
Tmc6 A T 11: 117,663,884 (GRCm39) L474* probably null Het
Tmem132c T C 5: 127,436,933 (GRCm39) Y141H probably benign Het
Trap1 G A 16: 3,872,686 (GRCm39) R328C possibly damaging Het
Trim36 C A 18: 46,305,439 (GRCm39) probably benign Het
Trmt2a A T 16: 18,069,055 (GRCm39) Y299F possibly damaging Het
Trrap A G 5: 144,728,975 (GRCm39) K630E probably damaging Het
Tsnaxip1 A T 8: 106,567,333 (GRCm39) probably benign Het
Ttc6 G T 12: 57,775,335 (GRCm39) C1677F possibly damaging Het
Ugt2a3 A T 5: 87,485,018 (GRCm39) V2D Het
Usp9x A G X: 12,964,822 (GRCm39) D77G probably benign Het
Wfs1 C A 5: 37,125,968 (GRCm39) V308L probably benign Het
Zan A C 5: 137,472,326 (GRCm39) L140R probably damaging Het
Zc3h3 A T 15: 75,709,346 (GRCm39) S508T probably benign Het
Zswim3 A G 2: 164,662,777 (GRCm39) Y419C possibly damaging 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
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
R5463:Serpinb9 UTSW 13 33,199,659 (GRCm39) missense probably damaging 0.98
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
(F):5'- AATAAGCAGTGTGCCTTGAATGG -3'
(R):5'- TTCTATGATGGCAGAGGCTG -3'

Sequencing Primer
(F):5'- GCCTTGAATGGTGTTAGAAGGTAC -3'
(R):5'- TGCTGCAGCCTCTGTGC -3'
Posted On 2015-04-06