Incidental Mutation 'R1586:Serpinb9'
ID177527
Institutional Source Beutler Lab
Gene Symbol Serpinb9
Ensembl Gene ENSMUSG00000045827
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 9
Synonymsovalbumin, PI-9, Spi6
MMRRC Submission 039623-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #R1586 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location33003250-33017957 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 33015486 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 255 (M255L)
Ref Sequence ENSEMBL: ENSMUSP00000099002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006391] [ENSMUST00000063191]
Predicted Effect probably benign
Transcript: ENSMUST00000006391
AA Change: M255L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000006391
Gene: ENSMUSG00000045827
AA Change: M255L

DomainStartEndE-ValueType
SERPIN 13 374 6.04e-174 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063191
AA Change: M255L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099002
Gene: ENSMUSG00000045827
AA Change: M255L

DomainStartEndE-ValueType
SERPIN 13 374 6.04e-174 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 93% (65/70)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,971,512 I282V probably benign Het
9030624J02Rik T A 7: 118,809,972 I612N probably damaging Het
Abca2 C T 2: 25,447,216 A2361V probably damaging Het
Alpi A G 1: 87,100,201 I219T probably damaging Het
Anapc10 T A 8: 79,775,143 M180K probably benign Het
Ank3 A G 10: 69,877,878 I431V probably damaging Het
Anxa8 T A 14: 34,093,937 D182E probably damaging Het
Atp1a3 T A 7: 24,979,383 I945F probably damaging Het
Atp2a3 T C 11: 72,991,744 S1019P probably damaging Het
Cbs T A 17: 31,622,474 I258F probably damaging Het
Cic T C 7: 25,285,961 S277P probably damaging Het
Cidea T A 18: 67,360,160 V83E probably damaging Het
Cilp G A 9: 65,279,715 G1031S probably damaging Het
Clca3a2 A G 3: 144,810,716 I373T possibly damaging Het
Cpvl T A 6: 53,926,901 D293V probably damaging Het
Cryz A G 3: 154,611,510 N122S probably benign Het
Dmap1 T C 4: 117,676,122 E245G probably damaging Het
Epha2 C T 4: 141,318,605 probably benign Het
Fam222b C T 11: 78,154,521 L303F probably damaging Het
Fastkd1 T C 2: 69,712,148 D105G probably benign Het
Fat4 T A 3: 38,888,860 L634Q probably damaging Het
Fbxo10 A T 4: 45,042,036 I731N possibly damaging Het
Fig4 A G 10: 41,265,427 F279L probably damaging Het
Guk1 A G 11: 59,186,849 S22P probably damaging Het
Kmt2d A G 15: 98,865,053 probably benign Het
Macf1 A T 4: 123,509,846 S727T probably benign Het
Mgea5 T G 19: 45,776,910 T153P possibly damaging Het
Mki67 T A 7: 135,713,972 K54* probably null Het
Ms4a8a T C 19: 11,076,332 T137A possibly damaging Het
Myo5c T C 9: 75,267,031 Y557H probably damaging Het
Nav3 T A 10: 109,853,254 K387N probably damaging Het
Olfr1432 G T 19: 12,228,877 A223E probably damaging Het
Pde4c T A 8: 70,746,859 Y223N probably damaging Het
Psd T G 19: 46,314,798 E715A probably damaging Het
Rpl7 A T 1: 16,102,583 S171T probably benign Het
Rrm1 A G 7: 102,466,905 *66W probably null Het
Scgb1b3 T A 7: 31,375,963 H79Q probably damaging Het
Slc35a4 T C 18: 36,683,005 V296A probably benign Het
Smgc G A 15: 91,838,393 A9T possibly damaging Het
Snx11 C A 11: 96,770,696 W161L probably benign Het
Spag17 A G 3: 100,021,752 K533E possibly damaging Het
Speer4b A G 5: 27,497,013 S250P probably damaging Het
Spta1 A T 1: 174,213,495 H1287L probably benign Het
Surf2 T C 2: 26,919,755 F239S probably damaging Het
Tada1 G A 1: 166,386,750 R106H possibly damaging Het
Tbc1d22a C A 15: 86,351,651 probably null Het
Tbcd A G 11: 121,497,060 Q339R probably benign Het
Tdrd7 A G 4: 45,994,445 H281R probably benign Het
Tomm5 A G 4: 45,107,915 probably null Het
Ttc7 T C 17: 87,361,945 probably null Het
Ulk1 A T 5: 110,789,516 F638Y probably damaging Het
Wdr93 C A 7: 79,768,361 D277E probably damaging Het
Znrf3 T C 11: 5,281,477 R583G probably damaging Het
Zscan29 T A 2: 121,161,160 I716F probably damaging Het
Other mutations in Serpinb9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Serpinb9 APN 13 33006690 missense probably damaging 1.00
IGL03385:Serpinb9 APN 13 33007996 splice site probably benign
R0173:Serpinb9 UTSW 13 33010722 missense probably benign 0.03
R3708:Serpinb9 UTSW 13 33008019 missense possibly damaging 0.89
R3853:Serpinb9 UTSW 13 33015520 missense possibly damaging 0.70
R3903:Serpinb9 UTSW 13 33010810 missense possibly damaging 0.78
R4117:Serpinb9 UTSW 13 33015596 missense probably benign 0.26
R4903:Serpinb9 UTSW 13 33008864 missense probably damaging 1.00
R4964:Serpinb9 UTSW 13 33008864 missense probably damaging 1.00
R4966:Serpinb9 UTSW 13 33008864 missense probably damaging 1.00
R5140:Serpinb9 UTSW 13 33006561 missense probably benign 0.03
R5463:Serpinb9 UTSW 13 33015676 missense probably damaging 0.98
R6165:Serpinb9 UTSW 13 33008824 missense possibly damaging 0.81
R7510:Serpinb9 UTSW 13 33010785 missense probably damaging 0.99
R7511:Serpinb9 UTSW 13 33008071 missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- GCTTGTCAACCATGACCATCAGGG -3'
(R):5'- GCCACAGAACAGGATGCTGTTTGC -3'

Sequencing Primer
(F):5'- CCATGACCATCAGGGAAGAC -3'
(R):5'- CTCTGGTGAACAAACTTGGAC -3'
Posted On2014-04-24