Incidental Mutation 'R8989:Serpinb6e'
ID 684307
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 068821-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R8989 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 34016328-34027391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34022967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 139 (H139N)
Ref Sequence ENSEMBL: ENSMUSP00000105904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110275] [ENSMUST00000145221]
AlphaFold I7HJI3
Predicted Effect possibly damaging
Transcript: ENSMUST00000110275
AA Change: H139N

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105904
Gene: ENSMUSG00000069248
AA Change: H139N

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 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,760,724 (GRCm39) I1260M probably benign Het
A1cf T A 19: 31,904,556 (GRCm39) F273Y possibly damaging Het
A3galt2 T C 4: 128,655,231 (GRCm39) W45R probably damaging Het
Adam23 A G 1: 63,588,948 (GRCm39) E460G probably damaging Het
Ago1 T A 4: 126,357,583 (GRCm39) T31S probably benign Het
Ago3 T A 4: 126,298,191 (GRCm39) T110S probably damaging Het
Akap6 T C 12: 52,927,654 (GRCm39) F188S probably damaging Het
Asic2 G A 11: 81,043,180 (GRCm39) P38S probably benign Het
Astn2 A T 4: 65,499,890 (GRCm39) C1000S possibly damaging Het
Atp10b T A 11: 43,136,269 (GRCm39) C1132* probably null Het
Atp7b A T 8: 22,510,911 (GRCm39) S527T probably benign Het
Bod1l G A 5: 41,979,025 (GRCm39) T763I probably benign Het
Capn11 A G 17: 45,954,783 (GRCm39) L118P probably damaging Het
Col13a1 T C 10: 61,696,250 (GRCm39) E589G unknown Het
Col6a2 T C 10: 76,440,015 (GRCm39) D630G probably damaging Het
Ctnnd2 G A 15: 30,669,660 (GRCm39) R423H probably damaging Het
Dld G A 12: 31,383,458 (GRCm39) T447I probably damaging Het
Eif4g3 T C 4: 137,912,059 (GRCm39) L1227S probably damaging Het
Elac1 C A 18: 73,880,310 (GRCm39) E29* probably null Het
Entrep1 T A 19: 23,962,196 (GRCm39) Q269L probably damaging Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Fancc G T 13: 63,548,090 (GRCm39) L70M possibly damaging Het
Fgd6 T A 10: 93,959,425 (GRCm39) M1041K probably damaging Het
Fn1 A G 1: 71,663,446 (GRCm39) V1014A possibly damaging Het
Galnt1 C T 18: 24,402,567 (GRCm39) T308I possibly damaging Het
Garre1 T C 7: 33,956,869 (GRCm39) Q332R probably damaging Het
Gpr63 T A 4: 25,007,357 (GRCm39) V27D possibly damaging Het
Hcfc2 T C 10: 82,536,822 (GRCm39) V78A probably damaging Het
Hexd T A 11: 121,109,136 (GRCm39) probably benign Het
Hipk1 T C 3: 103,668,960 (GRCm39) T479A possibly damaging Het
Hkdc1 T C 10: 62,229,544 (GRCm39) D711G probably damaging Het
Ifna16 A T 4: 88,594,912 (GRCm39) F61Y probably damaging Het
Insrr T A 3: 87,722,664 (GRCm39) N1295K probably damaging Het
Kif5b T A 18: 6,209,021 (GRCm39) R914W probably damaging Het
Lpo T C 11: 87,708,660 (GRCm39) T113A probably benign Het
Mmp21 T C 7: 133,276,746 (GRCm39) D419G probably damaging Het
Naf1 A G 8: 67,313,628 (GRCm39) T204A possibly damaging Het
Nsmce4a T C 7: 130,141,587 (GRCm39) T201A probably benign Het
Nup160 T A 2: 90,548,208 (GRCm39) N980K probably damaging Het
Odad2 T C 18: 7,268,464 (GRCm39) K352E probably benign Het
Or13c7d T C 4: 43,770,346 (GRCm39) I222V possibly damaging Het
Or14j2 A T 17: 37,885,542 (GRCm39) F257L probably benign Het
Or2d3c T A 7: 106,526,366 (GRCm39) Q100L probably damaging Het
Pcdhb19 A G 18: 37,631,476 (GRCm39) T424A probably benign Het
Pclo C T 5: 14,719,325 (GRCm39) A1154V unknown Het
Pramel28 C A 4: 143,691,770 (GRCm39) A318S probably benign Het
Psma8 T A 18: 14,890,404 (GRCm39) D181E probably benign Het
Rhpn2 C A 7: 35,053,446 (GRCm39) probably benign Het
Slc26a7 T A 4: 14,533,642 (GRCm39) I394F probably damaging Het
Spmip5 T C 19: 58,776,153 (GRCm39) E100G probably damaging Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Taok3 T C 5: 117,379,227 (GRCm39) S421P probably benign Het
Tas2r143 T G 6: 42,377,828 (GRCm39) D219E probably damaging Het
Tcaf1 G A 6: 42,663,707 (GRCm39) R58C probably damaging Het
Tenm3 A T 8: 48,688,383 (GRCm39) Y2401* probably null Het
Tut1 T C 19: 8,937,116 (GRCm39) V200A possibly damaging Het
Unc5c T A 3: 141,509,467 (GRCm39) probably benign Het
Vmn2r28 T G 7: 5,493,473 (GRCm39) I158L probably benign Het
Vmn2r72 T A 7: 85,404,134 (GRCm39) H19L probably benign Het
Xpo4 A G 14: 57,828,475 (GRCm39) M795T probably benign Het
Zc3h12a C A 4: 125,014,743 (GRCm39) R247L probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging 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
R0018:Serpinb6e UTSW 13 34,021,828 (GRCm39) missense probably damaging 1.00
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
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'- ACAGCTCATCTCGTGGCTAC -3'
(R):5'- TTCAATTGCAACTAGGTGGGTC -3'

Sequencing Primer
(F):5'- CGTGGCTACATGCTAAATTCC -3'
(R):5'- CAATTGCAACTAGGTGGGTCTTTGAG -3'
Posted On 2021-10-11