Incidental Mutation 'R6948:Serpinb9d'
ID 540981
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6948 (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 33384706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 228 (S228G)
Ref Sequence ENSEMBL: ENSMUSP00000067710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067198]
AlphaFold Q8BMT0
Predicted Effect possibly damaging
Transcript: ENSMUST00000067198
AA Change: S228G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: S228G

DomainStartEndE-ValueType
SERPIN 13 377 1.79e-167 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 97% (36/37)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap2 A G 2: 91,097,524 (GRCm39) T107A probably benign Het
Calhm3 T A 19: 47,140,344 (GRCm39) M250L probably damaging Het
Catsperb A T 12: 101,447,327 (GRCm39) I276L probably benign Het
Cd70 T C 17: 57,456,594 (GRCm39) E3G probably damaging Het
Cenpj A T 14: 56,790,683 (GRCm39) S455R probably damaging Het
Cgn C G 3: 94,680,531 (GRCm39) E590D probably benign Het
Cpvl T A 6: 53,873,468 (GRCm39) I423F possibly damaging Het
Cyp2c54 T A 19: 40,034,636 (GRCm39) M345L possibly damaging Het
Dner T C 1: 84,383,738 (GRCm39) N549D probably damaging Het
Fat4 T A 3: 39,063,595 (GRCm39) L4517Q probably damaging Het
Fbxw11 A G 11: 32,692,597 (GRCm39) T523A probably damaging Het
Flg A G 3: 93,195,475 (GRCm39) probably benign Het
Gcfc2 A G 6: 81,910,734 (GRCm39) E237G probably benign Het
Ipo5 G T 14: 121,160,527 (GRCm39) M181I probably benign Het
Itprid1 C T 6: 55,955,470 (GRCm39) T1026I probably benign Het
Klhl32 A G 4: 24,629,250 (GRCm39) Y506H probably benign Het
Mast3 G A 8: 71,238,126 (GRCm39) T505I probably damaging Het
Mrgprx2 A T 7: 48,132,464 (GRCm39) V118D possibly damaging Het
Mtor T G 4: 148,621,209 (GRCm39) V1869G probably benign Het
Mycbp2 A T 14: 103,522,703 (GRCm39) M720K possibly damaging Het
Npy4r A G 14: 33,868,731 (GRCm39) Y186H probably benign Het
Obscn A G 11: 58,997,142 (GRCm39) S1520P probably damaging Het
Or10g1b A T 14: 52,627,614 (GRCm39) F205L probably benign Het
Pex1 A G 5: 3,655,994 (GRCm39) N274D probably benign Het
Plxnb1 T C 9: 108,945,702 (GRCm39) Y2078H probably damaging Het
Rasgrp1 T C 2: 117,129,085 (GRCm39) D178G probably damaging Het
Reln A G 5: 22,177,033 (GRCm39) S1878P probably damaging Het
Rims2 T C 15: 39,374,737 (GRCm39) V1033A probably benign Het
Scaf1 G T 7: 44,662,971 (GRCm39) S14* probably null Het
Slc22a14 C A 9: 119,060,482 (GRCm39) A93S probably damaging Het
Sox30 G A 11: 45,908,166 (GRCm39) V778M probably damaging Het
Tecrl T C 5: 83,457,097 (GRCm39) I128V probably benign Het
Trip10 T A 17: 57,569,448 (GRCm39) C491S probably damaging Het
Vmn1r26 A T 6: 57,985,718 (GRCm39) M157K probably damaging Het
Zbtb1 A T 12: 76,432,601 (GRCm39) S196C probably damaging Het
Zfp236 T C 18: 82,662,187 (GRCm39) D582G possibly damaging Het
Zfp384 A G 6: 125,001,873 (GRCm39) T125A probably benign Het
Zpr1 T G 9: 46,184,939 (GRCm39) probably null 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
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'- GCTGATGTGGAAACCATCTGATTTC -3'
(R):5'- TTTGATCCCAAAGCCCTGTG -3'

Sequencing Primer
(F):5'- TGTGGCAGGAAGACAGATT -3'
(R):5'- GCCCACAGCTTGAAGTTCTG -3'
Posted On 2018-11-28