Incidental Mutation 'R0018:Serpinb6e'
ID 177886
Institutional Source Beutler Lab
Gene Symbol Serpinb6e
Ensembl Gene ENSMUSG00000069248
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 6e
Synonyms Gm11396, ovalbumin, SPI3B
MMRRC Submission 038313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R0018 (G1)
Quality Score 20
Status Validated
Chromosome 13
Chromosomal Location 34016328-34027391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34021828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 167 (Y167N)
Ref Sequence ENSEMBL: ENSMUSP00000105904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110275] [ENSMUST00000145221]
AlphaFold I7HJI3
Predicted Effect probably damaging
Transcript: ENSMUST00000110275
AA Change: Y167N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105904
Gene: ENSMUSG00000069248
AA Change: Y167N

DomainStartEndE-ValueType
SERPIN 65 429 4.43e-149 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145221
SMART Domains Protein: ENSMUSP00000117577
Gene: ENSMUSG00000069248

DomainStartEndE-ValueType
Pfam:Serpin 58 101 1.9e-9 PFAM
Meta Mutation Damage Score 0.9704 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,532,162 (GRCm39) probably null Het
Afp A C 5: 90,654,600 (GRCm39) Q546P probably damaging Het
Api5 A T 2: 94,251,329 (GRCm39) probably null Het
Atp2b4 T A 1: 133,645,609 (GRCm39) I982F probably damaging Het
BC024139 G A 15: 76,005,087 (GRCm39) Q592* probably null Het
Capn7 T A 14: 31,076,069 (GRCm39) C290* probably null Het
Ccn1 A G 3: 145,355,186 (GRCm39) L23P probably damaging Het
Celsr1 T A 15: 85,915,243 (GRCm39) D910V possibly damaging Het
Chga T C 12: 102,524,764 (GRCm39) S45P probably damaging Het
Cpne2 T A 8: 95,282,681 (GRCm39) C59S possibly damaging Het
Cyp2b13 G A 7: 25,785,375 (GRCm39) R248H probably benign Het
Dennd1a T A 2: 37,748,472 (GRCm39) T336S possibly damaging Het
Drc7 A G 8: 95,800,862 (GRCm39) Y628C probably damaging Het
Dse A G 10: 34,029,464 (GRCm39) V542A probably benign Het
Dspp A T 5: 104,326,096 (GRCm39) S820C unknown Het
Efcab3 G A 11: 104,612,378 (GRCm39) probably null Het
Eif5b T C 1: 38,057,970 (GRCm39) S91P unknown Het
Epop A G 11: 97,519,017 (GRCm39) V364A probably benign Het
Ext2 G A 2: 93,626,037 (GRCm39) P341L probably damaging Het
Galns T C 8: 123,311,724 (GRCm39) T429A probably benign Het
Gsx2 A G 5: 75,237,828 (GRCm39) K260R probably damaging Het
H2-M10.6 A C 17: 37,124,941 (GRCm39) H286P probably damaging Het
Hectd4 A G 5: 121,392,242 (GRCm39) N169D possibly damaging Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Hmcn1 T C 1: 150,528,302 (GRCm39) D3282G probably benign Het
Hnmt T A 2: 23,893,640 (GRCm39) N285Y possibly damaging Het
Hr A G 14: 70,795,717 (GRCm39) R450G probably benign Het
Kat6a A G 8: 23,419,289 (GRCm39) D684G possibly damaging Het
Kif27 T G 13: 58,435,867 (GRCm39) I1309L probably benign Het
Mab21l4 T A 1: 93,082,327 (GRCm39) D264V probably benign Het
Man2b1 T A 8: 85,824,118 (GRCm39) V1005E probably damaging Het
Me2 A T 18: 73,924,923 (GRCm39) F265I possibly damaging Het
Myo9a A T 9: 59,779,007 (GRCm39) T1588S probably benign Het
Neu4 T A 1: 93,953,060 (GRCm39) D476E probably benign Het
Nlrp9c T A 7: 26,071,423 (GRCm39) Q895L possibly damaging Het
Or1e35 T C 11: 73,797,452 (GRCm39) I289V probably damaging Het
Or1p1c A C 11: 74,160,934 (GRCm39) T240P probably benign Het
Pdzd8 C T 19: 59,289,105 (GRCm39) R765H probably damaging Het
Plk1 T C 7: 121,768,208 (GRCm39) probably null Het
Ppfia2 A G 10: 106,678,647 (GRCm39) probably benign Het
Prkdc T C 16: 15,544,406 (GRCm39) Y1799H probably benign Het
Psmc1 T C 12: 100,082,951 (GRCm39) probably benign Het
Ptchd3 A C 11: 121,733,170 (GRCm39) I687L probably benign Het
Ptprh A G 7: 4,604,845 (GRCm39) probably null Het
Pus3 A G 9: 35,477,920 (GRCm39) D384G probably benign Het
Rab44 C T 17: 29,358,354 (GRCm39) P181S probably benign Het
Rasa2 A G 9: 96,454,016 (GRCm39) S307P probably damaging Het
Rbpms2 A G 9: 65,558,360 (GRCm39) D142G probably damaging Het
Reln A T 5: 22,130,369 (GRCm39) D2647E probably benign Het
Ryr2 G A 13: 11,610,109 (GRCm39) T4239I possibly damaging Het
Sctr C A 1: 119,971,286 (GRCm39) probably benign Het
Slc13a5 T C 11: 72,157,301 (GRCm39) I31V probably benign Het
Slc15a4 A T 5: 127,679,074 (GRCm39) I422N probably damaging Het
Stk24 G A 14: 121,545,419 (GRCm39) probably benign Het
Vmn1r213 T A 13: 23,196,311 (GRCm39) V298D probably damaging Het
Xdh C T 17: 74,232,020 (GRCm39) R230H probably benign Het
Zfp418 A T 7: 7,185,449 (GRCm39) S471C probably benign Het
Other mutations in Serpinb6e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02501:Serpinb6e APN 13 34,016,785 (GRCm39) missense possibly damaging 0.46
IGL03174:Serpinb6e APN 13 34,020,463 (GRCm39) missense probably damaging 0.99
R0145:Serpinb6e UTSW 13 34,025,043 (GRCm39) missense probably benign 0.30
R0592:Serpinb6e UTSW 13 34,025,057 (GRCm39) missense probably damaging 1.00
R0733:Serpinb6e UTSW 13 34,025,201 (GRCm39) missense probably benign
R1347:Serpinb6e UTSW 13 34,025,180 (GRCm39) missense possibly damaging 0.96
R1347:Serpinb6e UTSW 13 34,025,180 (GRCm39) missense possibly damaging 0.96
R1651:Serpinb6e UTSW 13 34,020,406 (GRCm39) missense probably benign 0.00
R1822:Serpinb6e UTSW 13 34,017,217 (GRCm39) missense probably damaging 0.96
R2031:Serpinb6e UTSW 13 34,021,733 (GRCm39) unclassified probably benign
R3740:Serpinb6e UTSW 13 34,022,943 (GRCm39) missense probably benign 0.09
R4549:Serpinb6e UTSW 13 34,017,214 (GRCm39) missense possibly damaging 0.92
R4658:Serpinb6e UTSW 13 34,025,299 (GRCm39) start gained probably benign
R5149:Serpinb6e UTSW 13 34,016,468 (GRCm39) missense probably damaging 0.99
R5736:Serpinb6e UTSW 13 34,016,753 (GRCm39) missense probably damaging 0.96
R6060:Serpinb6e UTSW 13 34,025,256 (GRCm39) missense possibly damaging 0.96
R6212:Serpinb6e UTSW 13 34,025,220 (GRCm39) missense probably damaging 0.99
R6335:Serpinb6e UTSW 13 34,021,805 (GRCm39) missense probably benign 0.44
R6818:Serpinb6e UTSW 13 34,016,337 (GRCm39) splice site probably null
R7089:Serpinb6e UTSW 13 34,016,698 (GRCm39) missense probably damaging 0.99
R7151:Serpinb6e UTSW 13 34,021,818 (GRCm39) missense probably damaging 1.00
R7263:Serpinb6e UTSW 13 34,022,923 (GRCm39) missense probably benign 0.03
R7528:Serpinb6e UTSW 13 34,016,474 (GRCm39) missense possibly damaging 0.57
R7944:Serpinb6e UTSW 13 34,016,588 (GRCm39) missense probably damaging 0.99
R8789:Serpinb6e UTSW 13 34,017,213 (GRCm39) missense probably damaging 1.00
R8792:Serpinb6e UTSW 13 34,022,942 (GRCm39) missense possibly damaging 0.59
R8794:Serpinb6e UTSW 13 34,024,977 (GRCm39) missense possibly damaging 0.54
R8944:Serpinb6e UTSW 13 34,017,261 (GRCm39) missense probably damaging 1.00
R8967:Serpinb6e UTSW 13 34,020,419 (GRCm39) missense possibly damaging 0.90
R8989:Serpinb6e UTSW 13 34,022,967 (GRCm39) missense possibly damaging 0.59
R9167:Serpinb6e UTSW 13 34,023,009 (GRCm39) missense possibly damaging 0.47
R9310:Serpinb6e UTSW 13 34,017,204 (GRCm39) missense probably benign
Z1177:Serpinb6e UTSW 13 34,025,221 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- ATCCTGCTCAGAATGCTTAGTGCC -3'
(R):5'- GCCTCTTAGAGCGACAGCAGTATG -3'

Sequencing Primer
(F):5'- GTGCCCTGTAGTCAAATTTCAG -3'
(R):5'- TGAGCTTCAGCTACTGCCTAAAG -3'
Posted On 2014-04-30