Incidental Mutation 'R9188:Serpinb9d'
ID 697545
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 068980-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R9188 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 33376942-33387112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33386843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 304 (M304V)
Ref Sequence ENSEMBL: ENSMUSP00000067710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067198]
AlphaFold Q8BMT0
Predicted Effect probably damaging
Transcript: ENSMUST00000067198
AA Change: M304V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: M304V

DomainStartEndE-ValueType
SERPIN 13 377 1.79e-167 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik G T 6: 83,139,230 (GRCm39) R385L probably benign Het
Abca8b A T 11: 109,872,561 (GRCm39) C13* probably null Het
Actc1 T C 2: 113,880,979 (GRCm39) D82G probably damaging Het
Adamts1 G A 16: 85,599,571 (GRCm39) R10C probably damaging Het
Ankle2 G A 5: 110,400,610 (GRCm39) V649M possibly damaging Het
Arhgap23 A G 11: 97,390,983 (GRCm39) I4V possibly damaging Het
Asic2 A G 11: 81,042,738 (GRCm39) F185S probably benign Het
Asmt G A X: 169,111,583 (GRCm39) E322K probably damaging Het
Caprin2 T C 6: 148,767,422 (GRCm39) D512G probably benign Het
Cltc A C 11: 86,627,992 (GRCm39) I52S probably damaging Het
Cntn2 A G 1: 132,443,276 (GRCm39) L1040P probably damaging Het
Col12a1 T C 9: 79,509,614 (GRCm39) T3019A probably benign Het
Crisp4 A T 1: 18,192,990 (GRCm39) C242* probably null Het
Crocc G T 4: 140,747,151 (GRCm39) N1716K probably benign Het
Cstf3 A G 2: 104,439,223 (GRCm39) E12G possibly damaging Het
Dnai4 T C 4: 102,939,332 (GRCm39) T77A Het
Drc3 G T 11: 60,249,615 (GRCm39) V45F probably damaging Het
Etv4 A G 11: 101,666,202 (GRCm39) S108P probably damaging Het
Exosc10 T A 4: 148,643,017 (GRCm39) D31E probably damaging Het
F11 A T 8: 45,698,736 (GRCm39) D469E probably benign Het
Fzd7 A G 1: 59,523,797 (GRCm39) H560R probably benign Het
Gabrp A G 11: 33,517,252 (GRCm39) I140T possibly damaging Het
Get1 A G 16: 95,955,363 (GRCm39) D140G probably benign Het
Gna15 T C 10: 81,343,798 (GRCm39) T288A probably benign Het
Gucy2c T C 6: 136,700,756 (GRCm39) D586G probably benign Het
H2-D1 T C 17: 35,484,778 (GRCm39) V213A probably damaging Het
Hsd3b1 A T 3: 98,760,216 (GRCm39) D258E probably damaging Het
Ier3 G T 17: 36,132,779 (GRCm39) G57W probably damaging Het
Ifnlr1 T A 4: 135,426,171 (GRCm39) C85S probably damaging Het
Ivd G T 2: 118,710,942 (GRCm39) G384C probably damaging Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Jak2 A C 19: 29,288,353 (GRCm39) D1068A probably damaging Het
Klk4 T C 7: 43,534,797 (GRCm39) I252T probably damaging Het
Klra17 A T 6: 129,808,523 (GRCm39) C237S probably damaging Het
Krtap1-3 T C 11: 99,481,887 (GRCm39) T87A unknown Het
Lbhd1 A T 19: 8,864,397 (GRCm39) probably null Het
Lrig3 A G 10: 125,838,935 (GRCm39) R481G possibly damaging Het
Lrrc1 T C 9: 77,362,487 (GRCm39) Y247C probably benign Het
Marchf1 T A 8: 66,908,803 (GRCm39) Y174* probably null Het
Mlxip A T 5: 123,583,642 (GRCm39) T402S probably benign Het
Mmd2 T C 5: 142,560,957 (GRCm39) K93E probably damaging Het
Mmp27 A G 9: 7,579,792 (GRCm39) D422G possibly damaging Het
Mroh7 T C 4: 106,566,789 (GRCm39) I487V probably benign Het
Nectin2 A G 7: 19,453,119 (GRCm39) probably null Het
Nfkbia A T 12: 55,537,258 (GRCm39) L277H probably damaging Het
Or4n5 T C 14: 50,132,366 (GRCm39) M298V probably benign Het
Or52r1 T A 7: 102,536,596 (GRCm39) I255F possibly damaging Het
Otof C T 5: 30,534,095 (GRCm39) V1410M probably damaging Het
Pcdhb11 A G 18: 37,556,188 (GRCm39) N506S probably damaging Het
Pik3c2g A C 6: 139,599,401 (GRCm39) E172D possibly damaging Het
Plch1 T C 3: 63,639,075 (GRCm39) D466G probably null Het
Plekha6 C T 1: 133,220,171 (GRCm39) R955W probably damaging Het
Ppm1d T A 11: 85,236,747 (GRCm39) S509T possibly damaging Het
Prmt7 A G 8: 106,961,486 (GRCm39) D133G probably damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Rfx6 A G 10: 51,594,263 (GRCm39) I394M probably benign Het
Rgl1 G T 1: 152,394,922 (GRCm39) N715K probably damaging Het
Rnf212 G T 5: 108,922,811 (GRCm39) S13* probably null Het
Rpgrip1l T C 8: 92,031,638 (GRCm39) T80A probably damaging Het
Rsl1 G T 13: 67,330,185 (GRCm39) S211I probably benign Het
Sh3rf1 G T 8: 61,814,807 (GRCm39) probably null Het
Snx16 C A 3: 10,485,835 (GRCm39) K261N possibly damaging Het
Srebf2 G A 15: 82,066,357 (GRCm39) R635Q probably benign Het
Styxl1 T C 5: 135,794,672 (GRCm39) probably null Het
Tarbp2 A G 15: 102,430,946 (GRCm39) D233G probably benign Het
Tenm4 A T 7: 96,421,234 (GRCm39) N633Y probably damaging Het
Tgs1 T C 4: 3,585,693 (GRCm39) L190P probably benign Het
Tmem87a C T 2: 120,233,244 (GRCm39) G55D probably benign Het
Ttn A T 2: 76,733,468 (GRCm39) Y4602* probably null Het
Unc5b A T 10: 60,609,550 (GRCm39) L582Q probably damaging Het
Wdpcp A G 11: 21,610,025 (GRCm39) D31G probably damaging Het
Zbtb32 C T 7: 30,291,320 (GRCm39) probably benign Het
Zfp936 C T 7: 42,839,768 (GRCm39) L412F 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
R0370:Serpinb9d UTSW 13 33,379,949 (GRCm39) missense probably damaging 1.00
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
R9775:Serpinb9d UTSW 13 33,382,007 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTGGGTAAAACCTCATCTGTG -3'
(R):5'- TGCCACAGAACAGGATGCTG -3'

Sequencing Primer
(F):5'- ACCTCATCTGTGAATCTAAATGCTTC -3'
(R):5'- CCACAGAACAGGATGCTGTTAGTTG -3'
Posted On 2022-02-07