Incidental Mutation 'R1253:Serpinb9e'
ID 151853
Institutional Source Beutler Lab
Gene Symbol Serpinb9e
Ensembl Gene ENSMUSG00000062342
Gene Name serine (or cysteine) peptidase inhibitor, clade B, member 9e
Synonyms NK26, ovalbumin, Spi14
MMRRC Submission 039320-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R1253 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 33433595-33444833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33439102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 176 (F176S)
Ref Sequence ENSEMBL: ENSMUSP00000071769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071873]
AlphaFold O08806
Predicted Effect possibly damaging
Transcript: ENSMUST00000071873
AA Change: F176S

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000071769
Gene: ENSMUSG00000062342
AA Change: F176S

DomainStartEndE-ValueType
SERPIN 13 377 1.82e-168 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 G A 6: 83,499,869 (GRCm39) T127I probably damaging Het
Aph1b T A 9: 66,697,931 (GRCm39) K102* probably null Het
Caskin1 A G 17: 24,724,047 (GRCm39) K945R probably damaging Het
Ccdc137 C A 11: 120,349,005 (GRCm39) A12E probably benign Het
Cdhr1 A G 14: 36,801,582 (GRCm39) M787T probably benign Het
Cic T A 7: 24,990,373 (GRCm39) V1958E probably damaging Het
Col6a6 T A 9: 105,651,502 (GRCm39) I1170F probably null Het
Cyp2c54 T A 19: 40,034,629 (GRCm39) Y347F probably damaging Het
Kntc1 AGTGT AGT 5: 123,948,925 (GRCm39) probably null Het
Large1 T C 8: 73,775,050 (GRCm39) Y220C probably damaging Het
Macf1 A T 4: 123,351,760 (GRCm39) D1592E probably damaging Het
Mtus2 C T 5: 148,240,380 (GRCm39) Q76* probably null Het
Olfm3 A T 3: 114,916,418 (GRCm39) D450V probably damaging Het
Or1l4b T A 2: 37,036,884 (GRCm39) V220D possibly damaging Het
Or4k6 A G 14: 50,475,581 (GRCm39) C254R probably damaging Het
Or5ae1 T A 7: 84,565,917 (GRCm39) I310K probably benign Het
Ormdl1 G A 1: 53,344,681 (GRCm39) R81K possibly damaging Het
Pcdhb12 G A 18: 37,568,874 (GRCm39) V7I possibly damaging Het
Ptprt A G 2: 162,120,146 (GRCm39) I107T probably damaging Het
Rbm27 A C 18: 42,434,839 (GRCm39) D301A probably damaging Het
Rexo2 A T 9: 48,380,232 (GRCm39) I200N probably damaging Het
Rtn4ip1 A T 10: 43,786,867 (GRCm39) I192L probably benign Het
Sorcs3 C A 19: 48,195,175 (GRCm39) A186E possibly damaging Het
Spata31 A G 13: 65,069,838 (GRCm39) Y662C probably benign Het
Sphkap G A 1: 83,256,619 (GRCm39) P377S possibly damaging Het
Srrt T C 5: 137,298,598 (GRCm39) K222R probably benign Het
Tas2r129 T C 6: 132,928,999 (GRCm39) I312T probably benign Het
Thbs4 G T 13: 92,913,413 (GRCm39) P169Q probably benign Het
Tmtc3 T C 10: 100,287,252 (GRCm39) M515V probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r92 T A 17: 18,387,028 (GRCm39) N122K probably benign Het
Other mutations in Serpinb9e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01619:Serpinb9e APN 13 33,439,108 (GRCm39) missense probably damaging 0.97
IGL02352:Serpinb9e APN 13 33,441,803 (GRCm39) splice site probably benign
IGL02359:Serpinb9e APN 13 33,441,803 (GRCm39) splice site probably benign
IGL02604:Serpinb9e APN 13 33,441,742 (GRCm39) missense probably benign 0.00
IGL02859:Serpinb9e APN 13 33,435,633 (GRCm39) missense possibly damaging 0.83
R0257:Serpinb9e UTSW 13 33,441,664 (GRCm39) missense probably benign 0.24
R0751:Serpinb9e UTSW 13 33,443,757 (GRCm39) missense probably benign 0.00
R1101:Serpinb9e UTSW 13 33,444,071 (GRCm39) missense probably benign 0.10
R1170:Serpinb9e UTSW 13 33,441,735 (GRCm39) nonsense probably null
R1184:Serpinb9e UTSW 13 33,443,757 (GRCm39) missense probably benign 0.00
R1405:Serpinb9e UTSW 13 33,444,009 (GRCm39) missense probably benign
R1405:Serpinb9e UTSW 13 33,444,009 (GRCm39) missense probably benign
R1463:Serpinb9e UTSW 13 33,439,099 (GRCm39) missense probably benign
R1566:Serpinb9e UTSW 13 33,437,477 (GRCm39) missense probably damaging 1.00
R1924:Serpinb9e UTSW 13 33,437,428 (GRCm39) missense probably benign 0.07
R1964:Serpinb9e UTSW 13 33,437,474 (GRCm39) missense probably benign 0.04
R2153:Serpinb9e UTSW 13 33,436,961 (GRCm39) missense probably damaging 1.00
R2405:Serpinb9e UTSW 13 33,444,063 (GRCm39) missense probably benign
R2972:Serpinb9e UTSW 13 33,439,126 (GRCm39) missense probably benign
R2973:Serpinb9e UTSW 13 33,439,126 (GRCm39) missense probably benign
R2974:Serpinb9e UTSW 13 33,439,126 (GRCm39) missense probably benign
R3854:Serpinb9e UTSW 13 33,439,137 (GRCm39) missense probably benign 0.40
R4173:Serpinb9e UTSW 13 33,439,141 (GRCm39) missense probably damaging 0.97
R4937:Serpinb9e UTSW 13 33,436,935 (GRCm39) missense probably benign 0.11
R4949:Serpinb9e UTSW 13 33,435,591 (GRCm39) missense possibly damaging 0.81
R5347:Serpinb9e UTSW 13 33,441,767 (GRCm39) missense probably damaging 1.00
R5976:Serpinb9e UTSW 13 33,439,112 (GRCm39) missense probably benign
R5979:Serpinb9e UTSW 13 33,439,036 (GRCm39) missense probably benign 0.18
R5991:Serpinb9e UTSW 13 33,443,790 (GRCm39) missense probably damaging 1.00
R6059:Serpinb9e UTSW 13 33,441,757 (GRCm39) missense probably benign 0.29
R6884:Serpinb9e UTSW 13 33,435,609 (GRCm39) missense probably benign 0.33
R8007:Serpinb9e UTSW 13 33,435,605 (GRCm39) missense probably benign 0.27
R8504:Serpinb9e UTSW 13 33,439,092 (GRCm39) missense probably benign
R9802:Serpinb9e UTSW 13 33,439,078 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGCCACAGGAGAGTGTTACCG -3'
(R):5'- CAGCACCCTACACAGGAAATGTAGTATC -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- TAGTATCTACCAAGGCTCTGAGGAC -3'
Posted On 2014-01-29