Incidental Mutation 'R2186:Serpinb9d'
ID 237786
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 040188-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R2186 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 33376942-33387112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33387030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 366 (N366S)
Ref Sequence ENSEMBL: ENSMUSP00000067710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067198]
AlphaFold Q8BMT0
Predicted Effect possibly damaging
Transcript: ENSMUST00000067198
AA Change: N366S

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: N366S

DomainStartEndE-ValueType
SERPIN 13 377 1.79e-167 SMART
Meta Mutation Damage Score 0.2836 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,340 (GRCm39) N29S probably damaging Het
Ap1b1 T C 11: 4,965,737 (GRCm39) V92A possibly damaging Het
Asgr1 G A 11: 69,947,075 (GRCm39) R66Q probably benign Het
Atp8b4 T A 2: 126,200,780 (GRCm39) Q796L probably damaging Het
Camk4 A C 18: 33,315,394 (GRCm39) D307A probably damaging Het
Catsperb T A 12: 101,447,041 (GRCm39) I223K probably benign Het
Ccdc80 A G 16: 44,938,468 (GRCm39) Y725C probably damaging Het
Cep164 T A 9: 45,679,876 (GRCm39) Q1119L probably damaging Het
Cep85l G A 10: 53,224,714 (GRCm39) P292S probably damaging Het
Cfap53 A G 18: 74,462,576 (GRCm39) probably null Het
Cilk1 C T 9: 78,038,769 (GRCm39) T6M probably benign Het
Cts8 C A 13: 61,399,545 (GRCm39) C138F probably damaging Het
Dis3l C A 9: 64,246,894 (GRCm39) E54* probably null Het
Dnaja1 T A 4: 40,732,853 (GRCm39) D367E probably benign Het
Duoxa2 T C 2: 122,129,655 (GRCm39) I45T probably damaging Het
EU599041 C T 7: 42,875,333 (GRCm39) noncoding transcript Het
Exoc5 T C 14: 49,252,936 (GRCm39) M561V probably benign Het
Fam184a T C 10: 53,514,290 (GRCm39) I296V probably damaging Het
Fbxl18 C T 5: 142,864,516 (GRCm39) V686M probably damaging Het
Fryl A G 5: 73,222,318 (GRCm39) S2088P probably damaging Het
Fus G A 7: 127,584,706 (GRCm39) probably benign Het
Gpr183 T A 14: 122,191,727 (GRCm39) I265L probably benign Het
Herc1 T G 9: 66,347,183 (GRCm39) L2013V probably benign Het
Iqca1 T C 1: 90,009,066 (GRCm39) K430R probably benign Het
Iqca1l C T 5: 24,759,524 (GRCm39) G82E probably damaging Het
Itpripl2 A G 7: 118,090,500 (GRCm39) C20R probably damaging Het
Kmt2c C A 5: 25,492,110 (GRCm39) C852F probably damaging Het
Lamb1 A T 12: 31,368,466 (GRCm39) K1199* probably null Het
Lrba A G 3: 86,211,643 (GRCm39) Y421C probably damaging Het
Lrig2 A G 3: 104,375,914 (GRCm39) L96P probably benign Het
Mcc A G 18: 44,945,145 (GRCm39) F29S possibly damaging Het
Mlh1 T C 9: 111,087,634 (GRCm39) probably benign Het
Pals1 T C 12: 78,866,145 (GRCm39) probably benign Het
Rbm33 A G 5: 28,599,228 (GRCm39) T867A unknown Het
Sdk1 T A 5: 142,032,047 (GRCm39) S1041T probably benign Het
Serpinb2 A G 1: 107,451,694 (GRCm39) probably null Het
Sf3b1 A G 1: 55,046,792 (GRCm39) S251P probably benign Het
Slc45a1 T C 4: 150,722,708 (GRCm39) Y392C probably benign Het
Tlr4 T A 4: 66,758,220 (GRCm39) C338S possibly damaging Het
Trio A G 15: 27,824,061 (GRCm39) probably null Het
Vnn1 A T 10: 23,773,299 (GRCm39) I109L probably benign Het
Wnk1 A G 6: 119,925,528 (GRCm39) V1312A probably benign Het
Zbed6 A G 1: 133,585,817 (GRCm39) S507P probably damaging Het
Zfp28 A G 7: 6,397,497 (GRCm39) H644R probably damaging Het
Zfp286 A G 11: 62,671,287 (GRCm39) V262A probably damaging Het
Zfp292 A T 4: 34,807,962 (GRCm39) M1694K 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
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'- AACCTGTGTCTGTCCAACTTTG -3'
(R):5'- TTGTGGCATATCACCAACAGG -3'

Sequencing Primer
(F):5'- GTCCAACTTTGTTCACAAGTGTG -3'
(R):5'- GACTGGGTTACCTCAGGATG -3'
Posted On 2014-10-02