Incidental Mutation 'R6335:Serpinb6e'
ID 512928
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 044489-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R6335 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 34016328-34027391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34021805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 174 (L174F)
Ref Sequence ENSEMBL: ENSMUSP00000105904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110275] [ENSMUST00000145221]
AlphaFold I7HJI3
Predicted Effect probably benign
Transcript: ENSMUST00000110275
AA Change: L174F

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105904
Gene: ENSMUSG00000069248
AA Change: L174F

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11a T C 8: 12,909,481 (GRCm39) probably null Het
Best3 G T 10: 116,838,556 (GRCm39) V205F probably benign Het
C1qtnf1 A G 11: 118,338,960 (GRCm39) H210R probably damaging Het
Camkv T C 9: 107,823,894 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,849 (GRCm39) D1200E possibly damaging Het
Cep192 T A 18: 67,967,784 (GRCm39) I756N probably damaging Het
Crocc2 A T 1: 93,130,560 (GRCm39) Q947L probably benign Het
Dcaf1 A G 9: 106,715,845 (GRCm39) T321A possibly damaging Het
Dgkz T C 2: 91,774,724 (GRCm39) M87V probably benign Het
Dmrt2 T A 19: 25,650,935 (GRCm39) S40R possibly damaging Het
Dpep1 T G 8: 123,927,391 (GRCm39) L315R probably damaging Het
Fam221b G T 4: 43,665,942 (GRCm39) T223N possibly damaging Het
Fasn A T 11: 120,706,185 (GRCm39) V1053E probably damaging Het
Galc T C 12: 98,208,973 (GRCm39) D227G probably damaging Het
Grik1 A G 16: 87,744,794 (GRCm39) L486P probably damaging Het
Grik5 A G 7: 24,713,019 (GRCm39) S836P probably benign Het
Grpel2 T C 18: 61,852,792 (GRCm39) K70R possibly damaging Het
Ipo7 A G 7: 109,617,675 (GRCm39) D15G possibly damaging Het
Iqgap1 A G 7: 80,377,772 (GRCm39) Y1284H probably damaging Het
Lmo7 T C 14: 102,138,072 (GRCm39) S692P probably damaging Het
Mecom A G 3: 30,034,905 (GRCm39) L447P probably damaging Het
Mtor A G 4: 148,550,384 (GRCm39) D680G probably damaging Het
Muc16 T A 9: 18,572,004 (GRCm39) I172F unknown Het
Musk A G 4: 58,366,811 (GRCm39) I476M probably benign Het
Myef2 T C 2: 124,951,632 (GRCm39) T268A probably damaging Het
Naip1 A G 13: 100,563,060 (GRCm39) S702P probably damaging Het
Napa G T 7: 15,849,562 (GRCm39) S258I probably benign Het
Nfasc T A 1: 132,504,132 (GRCm39) I1039F probably damaging Het
Nlrc5 A G 8: 95,228,902 (GRCm39) S1238G probably benign Het
Or10q12 T C 19: 13,746,144 (GRCm39) V146A probably benign Het
Or1j12 A G 2: 36,342,734 (GRCm39) I46V probably benign Het
Or5w8 T A 2: 87,687,811 (GRCm39) C97* probably null Het
Pacs1 G T 19: 5,210,005 (GRCm39) N215K probably damaging Het
Parp10 A G 15: 76,126,388 (GRCm39) S267P probably benign Het
Pbrm1 G T 14: 30,806,052 (GRCm39) C995F probably damaging Het
Pcdh7 A T 5: 58,099,607 (GRCm39) probably null Het
Ppef2 T C 5: 92,383,613 (GRCm39) Y499C probably damaging Het
Pramel16 G T 4: 143,675,602 (GRCm39) T408K probably benign Het
Prex2 A C 1: 11,180,544 (GRCm39) I370L probably benign Het
Ptprd A G 4: 75,872,420 (GRCm39) Y1350H probably damaging Het
Rasgrp1 T C 2: 117,124,351 (GRCm39) K284E probably damaging Het
Rexo1 A T 10: 80,379,915 (GRCm39) Y23N probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sash3 C T X: 47,248,398 (GRCm39) L307F probably damaging Homo
Scn9a T A 2: 66,398,608 (GRCm39) M1L possibly damaging Het
Siae C T 9: 37,544,277 (GRCm39) T275I probably benign Het
Sptbn5 C A 2: 119,884,900 (GRCm39) probably benign Het
Ss18l2 C T 9: 121,541,672 (GRCm39) T55I probably damaging Het
Taf1c A G 8: 120,328,518 (GRCm39) C163R probably damaging Het
Tanc2 C T 11: 105,748,382 (GRCm39) R505W probably damaging Het
Tango6 C A 8: 107,419,308 (GRCm39) P285Q possibly damaging Het
Tdrd9 G T 12: 112,008,186 (GRCm39) probably null Het
Tead3 A T 17: 28,552,299 (GRCm39) L307H probably damaging Het
Ticrr A C 7: 79,344,031 (GRCm39) probably null Het
Trpc4 T C 3: 54,224,995 (GRCm39) probably null Het
Upb1 A T 10: 75,264,135 (GRCm39) T194S probably benign Het
Vav3 A G 3: 109,470,512 (GRCm39) N566S probably benign Het
Vmn1r196 T A 13: 22,477,887 (GRCm39) S175R probably benign Het
Zscan29 T C 2: 120,991,917 (GRCm39) N589D possibly 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
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'- ATGGGGTAAATATAACTCAGTGGC -3'
(R):5'- AAGAACTCAGCTGTTCATCATGG -3'

Sequencing Primer
(F):5'- CTCAGTGGCAAAGGAGATCC -3'
(R):5'- GGTTTTTAGCGATTCTCATACCAAC -3'
Posted On 2018-04-27