Incidental Mutation 'R2974:Serpinb9e'
ID 255327
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 040527-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R2974 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 33433595-33444833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33439126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 184 (V184E)
Ref Sequence ENSEMBL: ENSMUSP00000071769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071873]
AlphaFold O08806
Predicted Effect probably benign
Transcript: ENSMUST00000071873
AA Change: V184E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071769
Gene: ENSMUSG00000062342
AA Change: V184E

DomainStartEndE-ValueType
SERPIN 13 377 1.82e-168 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,844,801 (GRCm39) F1508V probably damaging Het
Aoc1l1 A G 6: 48,953,358 (GRCm39) T428A probably benign Het
BC048507 T C 13: 68,011,749 (GRCm39) I42T probably benign Het
Cop1 A G 1: 159,152,499 (GRCm39) H583R possibly damaging Het
Crnkl1 A G 2: 145,774,181 (GRCm39) L94P probably benign Het
Cstdc2 T C 2: 148,692,706 (GRCm39) D32G probably benign Het
Ctu1 A G 7: 43,325,074 (GRCm39) probably benign Het
D930007J09Rik C T 13: 32,986,742 (GRCm39) probably benign Het
Depdc5 T C 5: 33,091,361 (GRCm39) probably null Het
Dnah14 A T 1: 181,582,806 (GRCm39) probably null Het
Dpp10 A G 1: 123,339,434 (GRCm39) probably benign Het
Gsdme A G 6: 50,206,304 (GRCm39) C180R probably damaging Het
Gse1 C A 8: 121,297,636 (GRCm39) probably benign Het
Med15 T C 16: 17,470,575 (GRCm39) Y744C probably damaging Het
Nlrp4d A G 7: 10,112,367 (GRCm39) probably benign Het
Nyap2 C T 1: 81,169,485 (GRCm39) R81* probably null Het
Or4p21 A T 2: 88,276,918 (GRCm39) C121* probably null Het
Or8g30 T C 9: 39,230,292 (GRCm39) N206S probably damaging Het
Phax T A 18: 56,706,134 (GRCm39) M8K probably benign Het
Plec C G 15: 76,072,961 (GRCm39) G631R probably damaging Het
Rgs3 A T 4: 62,558,957 (GRCm39) T476S probably damaging Het
Rogdi G T 16: 4,829,526 (GRCm39) Q90K probably damaging Het
Rxrg G A 1: 167,466,715 (GRCm39) R422H probably damaging Het
Simc1 A G 13: 54,698,274 (GRCm39) D397G probably damaging Het
Slc25a27 T C 17: 43,964,262 (GRCm39) N203D probably damaging Het
Slit1 G A 19: 41,599,455 (GRCm39) P1032L probably benign Het
Sptlc3 A G 2: 139,431,581 (GRCm39) T368A probably damaging Het
Tnip1 C T 11: 54,824,809 (GRCm39) probably benign Het
Tpgs1 A G 10: 79,505,449 (GRCm39) E69G probably damaging Het
Trpv5 T C 6: 41,630,165 (GRCm39) S642G possibly damaging Het
Ube2d2a T A 18: 35,933,225 (GRCm39) D87E possibly damaging Het
Vmn2r117 A G 17: 23,678,830 (GRCm39) V798A probably damaging Het
Vmn2r77 T C 7: 86,452,893 (GRCm39) Y537H 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
R1253:Serpinb9e UTSW 13 33,439,102 (GRCm39) missense possibly damaging 0.77
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
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'- CACACATTATGCATATGGTACCTG -3'
(R):5'- CTTTTAGAAAGACAAATCTCAGCGG -3'

Sequencing Primer
(F):5'- GCATATGGTACCTGAATGACGTC -3'
(R):5'- GTGCTTTCCTTCCTTCCTTTCG -3'
Posted On 2014-12-29