Incidental Mutation 'R0370:Serpinb9d'
ID 30441
Institutional Source Beutler Lab
Gene Symbol Serpinb9d
Ensembl Gene ENSMUSG00000054266
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 9d
Synonyms Spi9, AT2, ovalbumin
MMRRC Submission 038576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0370 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 33376942-33387112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33379949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 96 (E96G)
Ref Sequence ENSEMBL: ENSMUSP00000067710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067198]
AlphaFold Q8BMT0
Predicted Effect probably damaging
Transcript: ENSMUST00000067198
AA Change: E96G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: E96G

DomainStartEndE-ValueType
SERPIN 13 377 1.79e-167 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 T C 8: 124,228,293 (GRCm39) S666P probably damaging Het
B3gntl1 A T 11: 121,514,980 (GRCm39) W263R probably damaging Het
Carmil3 A G 14: 55,732,899 (GRCm39) N270S possibly damaging Het
Ctdp1 T C 18: 80,492,569 (GRCm39) E642G probably damaging Het
Cyp2b9 A T 7: 25,909,531 (GRCm39) K433M probably damaging Het
Dcc A G 18: 71,721,056 (GRCm39) V435A possibly damaging Het
Defa26 A T 8: 22,108,875 (GRCm39) M87L probably benign Het
Dnah11 T A 12: 117,958,962 (GRCm39) I2974L probably benign Het
Dnah3 T C 7: 119,685,943 (GRCm39) D131G possibly damaging Het
Dock6 A T 9: 21,725,861 (GRCm39) S1447R probably benign Het
Dtl G T 1: 191,307,462 (GRCm39) N17K probably benign Het
Grid2 A G 6: 64,322,718 (GRCm39) I573V possibly damaging Het
Hoxa9 T C 6: 52,202,684 (GRCm39) E134G possibly damaging Het
Kcnn3 A T 3: 89,574,399 (GRCm39) N637I probably damaging Het
Ktn1 T C 14: 47,901,532 (GRCm39) F97L probably benign Het
Lmbrd2 T C 15: 9,165,939 (GRCm39) I271T probably damaging Het
Lrp6 A C 6: 134,456,729 (GRCm39) I845S probably damaging Het
Med13l T A 5: 118,879,891 (GRCm39) N994K probably benign Het
Mrrf A T 2: 36,067,125 (GRCm39) probably null Het
Mtmr1 G A X: 70,431,837 (GRCm39) V125I probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Or13g1 T A 7: 85,956,057 (GRCm39) N88I probably benign Het
Or51k1 T G 7: 103,661,266 (GRCm39) L214F probably damaging Het
Or8k3 A T 2: 86,059,057 (GRCm39) V86D probably damaging Het
Paxip1 C A 5: 27,965,084 (GRCm39) V659F probably damaging Het
Pclo T C 5: 14,571,104 (GRCm39) V163A probably damaging Het
Pkn3 T A 2: 29,977,184 (GRCm39) H641Q probably damaging Het
Plekhg6 G A 6: 125,347,623 (GRCm39) R444C probably damaging Het
Rfx2 T C 17: 57,106,308 (GRCm39) E175G probably benign Het
Samd9l A C 6: 3,377,264 (GRCm39) probably benign Het
Sec14l5 A T 16: 4,998,570 (GRCm39) T537S probably damaging Het
Setd4 T C 16: 93,388,006 (GRCm39) E160G probably damaging Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Slc16a4 A G 3: 107,208,413 (GRCm39) I308V possibly damaging Het
Slco2b1 T A 7: 99,339,644 (GRCm39) N100Y probably damaging Het
Sptbn1 A T 11: 30,071,545 (GRCm39) S1475R probably benign Het
Tecta T C 9: 42,278,100 (GRCm39) D1136G probably benign Het
Tmem94 G C 11: 115,679,543 (GRCm39) R273S probably damaging Het
Tns3 A G 11: 8,395,730 (GRCm39) S1225P possibly damaging Het
Ugt2b36 A G 5: 87,239,834 (GRCm39) Y184H probably benign Het
Vmn2r59 A T 7: 41,662,150 (GRCm39) M555K probably benign Het
Other mutations in Serpinb9d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01516:Serpinb9d APN 13 33,386,654 (GRCm39) splice site probably null
IGL01610:Serpinb9d APN 13 33,381,985 (GRCm39) missense probably benign 0.12
IGL01702:Serpinb9d APN 13 33,387,006 (GRCm39) missense probably damaging 1.00
IGL01833:Serpinb9d APN 13 33,384,688 (GRCm39) missense probably damaging 1.00
IGL02029:Serpinb9d APN 13 33,380,512 (GRCm39) missense possibly damaging 0.74
IGL03013:Serpinb9d APN 13 33,380,521 (GRCm39) missense probably damaging 1.00
IGL03027:Serpinb9d APN 13 33,386,698 (GRCm39) nonsense probably null
IGL03056:Serpinb9d APN 13 33,386,736 (GRCm39) missense probably damaging 1.00
IGL03189:Serpinb9d APN 13 33,386,895 (GRCm39) missense probably damaging 1.00
IGL03206:Serpinb9d APN 13 33,382,014 (GRCm39) missense possibly damaging 0.61
R0217:Serpinb9d UTSW 13 33,382,005 (GRCm39) missense possibly damaging 0.79
R1174:Serpinb9d UTSW 13 33,384,608 (GRCm39) missense probably benign 0.23
R1175:Serpinb9d UTSW 13 33,384,608 (GRCm39) missense probably benign 0.23
R1711:Serpinb9d UTSW 13 33,384,731 (GRCm39) missense probably benign 0.03
R1716:Serpinb9d UTSW 13 33,380,500 (GRCm39) missense probably damaging 1.00
R1874:Serpinb9d UTSW 13 33,381,946 (GRCm39) splice site probably null
R2186:Serpinb9d UTSW 13 33,387,030 (GRCm39) missense possibly damaging 0.82
R2497:Serpinb9d UTSW 13 33,380,500 (GRCm39) missense probably damaging 1.00
R4198:Serpinb9d UTSW 13 33,386,948 (GRCm39) missense probably benign 0.01
R4198:Serpinb9d UTSW 13 33,386,657 (GRCm39) splice site probably null
R4199:Serpinb9d UTSW 13 33,386,657 (GRCm39) splice site probably null
R4584:Serpinb9d UTSW 13 33,384,599 (GRCm39) missense probably damaging 1.00
R4650:Serpinb9d UTSW 13 33,386,836 (GRCm39) missense probably benign 0.00
R5573:Serpinb9d UTSW 13 33,380,423 (GRCm39) critical splice acceptor site probably null
R5627:Serpinb9d UTSW 13 33,386,676 (GRCm39) missense probably damaging 1.00
R6336:Serpinb9d UTSW 13 33,378,677 (GRCm39) missense probably damaging 1.00
R6706:Serpinb9d UTSW 13 33,380,541 (GRCm39) missense probably benign
R6948:Serpinb9d UTSW 13 33,384,706 (GRCm39) missense possibly damaging 0.95
R7271:Serpinb9d UTSW 13 33,378,617 (GRCm39) missense probably benign 0.43
R7336:Serpinb9d UTSW 13 33,384,702 (GRCm39) missense probably benign 0.00
R7436:Serpinb9d UTSW 13 33,379,916 (GRCm39) missense probably benign 0.35
R7675:Serpinb9d UTSW 13 33,386,759 (GRCm39) nonsense probably null
R7874:Serpinb9d UTSW 13 33,386,654 (GRCm39) splice site probably null
R9188:Serpinb9d UTSW 13 33,386,843 (GRCm39) missense probably damaging 0.99
R9775:Serpinb9d UTSW 13 33,382,007 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGAACCCCAGTTACTTGGCAGC -3'
(R):5'- TCCTTTCCCAGCCTTTGAAATGCAG -3'

Sequencing Primer
(F):5'- CAGCCTGAGTGATCTTGAAAATTCC -3'
(R):5'- CAGTTTCTATAGGGTCCTTTCCC -3'
Posted On 2013-04-24