Incidental Mutation 'IGL02604:Serpinb9e'
ID300181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpinb9e
Ensembl Gene ENSMUSG00000062342
Gene Nameserine (or cysteine) peptidase inhibitor, clade B, member 9e
SynonymsSpi14, ovalbumin, NK26
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL02604
Quality Score
Status
Chromosome13
Chromosomal Location33249612-33260850 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 33257759 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 225 (I225L)
Ref Sequence ENSEMBL: ENSMUSP00000071769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071873]
Predicted Effect probably benign
Transcript: ENSMUST00000071873
AA Change: I225L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071769
Gene: ENSMUSG00000062342
AA Change: I225L

DomainStartEndE-ValueType
SERPIN 13 377 1.82e-168 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,567,948 V61A probably benign Het
Arfgef1 G A 1: 10,181,050 probably benign Het
Arhgef4 T A 1: 34,811,723 L594* probably null Het
Cacna2d3 T C 14: 29,293,109 T375A possibly damaging Het
Calb2 A C 8: 110,148,528 Y155D probably damaging Het
Camkmt A G 17: 85,096,625 T92A possibly damaging Het
Chsy3 A G 18: 59,409,115 S442G probably benign Het
Cyp4f13 T C 17: 32,932,421 I173V probably benign Het
Dapk1 A G 13: 60,748,320 T741A probably benign Het
Dennd3 T C 15: 73,556,403 I866T probably damaging Het
Dhrs2 A T 14: 55,237,321 I138F possibly damaging Het
Dscaml1 C T 9: 45,744,328 probably benign Het
Fsbp A G 4: 11,584,147 E282G probably damaging Het
Hpgds A T 6: 65,123,610 L128Q probably damaging Het
Hspa9 A G 18: 34,954,213 V13A unknown Het
Itgb3 A G 11: 104,662,443 E709G probably damaging Het
Jarid2 T C 13: 44,874,401 S148P probably damaging Het
Kcna6 C T 6: 126,739,204 G241R probably benign Het
Kdm5a T A 6: 120,431,980 N1541K probably benign Het
Kel C A 6: 41,687,582 E640D probably damaging Het
Lcp1 A T 14: 75,224,126 I520F probably benign Het
Lgr4 A G 2: 110,011,313 I524V probably damaging Het
Maats1 A G 16: 38,321,559 probably benign Het
Mup20 A C 4: 62,051,904 Y139D probably damaging Het
Notch4 T C 17: 34,565,388 probably null Het
Obox7 A G 7: 14,665,368 E173G probably benign Het
Olfr1502 T A 19: 13,861,806 N4K probably benign Het
Olfr153 A T 2: 87,532,605 T191S probably damaging Het
Olfr447 T A 6: 42,912,058 C178* probably null Het
Olfr517 T A 7: 108,868,650 Y168F probably benign Het
Olfr889 C T 9: 38,115,852 Q19* probably null Het
Patl2 T G 2: 122,125,333 T241P possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plekhg6 T C 6: 125,377,379 probably benign Het
Pon1 C A 6: 5,168,375 G344V probably damaging Het
Ppp1r21 G T 17: 88,572,743 K529N probably benign Het
Prdm15 A G 16: 97,821,942 S203P probably benign Het
Psmc2 T A 5: 21,795,100 probably null Het
Ptn T C 6: 36,715,718 M166V unknown Het
Ptpn13 A G 5: 103,501,903 N391D probably benign Het
Rnf214 A G 9: 45,869,543 S383P probably damaging Het
Rufy4 T A 1: 74,134,189 L438H probably damaging Het
Scarf2 A G 16: 17,803,744 T353A probably damaging Het
Slc25a40 T C 5: 8,453,219 V312A probably benign Het
Tmc3 A G 7: 83,622,619 Y993C possibly damaging Het
Trim56 A C 5: 137,113,076 C529G probably damaging Het
Trim8 T C 19: 46,515,478 S490P probably damaging Het
Trmt6 A T 2: 132,810,437 Y147* probably null Het
Vmn2r109 T A 17: 20,540,701 H798L probably damaging Het
Vps35 A G 8: 85,286,389 L153P probably damaging Het
Wdr82 T C 9: 106,183,681 I131T probably damaging Het
Zfp69 A T 4: 120,931,463 D218E probably benign Het
Other mutations in Serpinb9e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01619:Serpinb9e APN 13 33255125 missense probably damaging 0.97
IGL02352:Serpinb9e APN 13 33257820 splice site probably benign
IGL02359:Serpinb9e APN 13 33257820 splice site probably benign
IGL02859:Serpinb9e APN 13 33251650 missense possibly damaging 0.83
R0257:Serpinb9e UTSW 13 33257681 missense probably benign 0.24
R0751:Serpinb9e UTSW 13 33259774 missense probably benign 0.00
R1101:Serpinb9e UTSW 13 33260088 missense probably benign 0.10
R1170:Serpinb9e UTSW 13 33257752 nonsense probably null
R1184:Serpinb9e UTSW 13 33259774 missense probably benign 0.00
R1253:Serpinb9e UTSW 13 33255119 missense possibly damaging 0.77
R1405:Serpinb9e UTSW 13 33260026 missense probably benign
R1405:Serpinb9e UTSW 13 33260026 missense probably benign
R1463:Serpinb9e UTSW 13 33255116 missense probably benign
R1566:Serpinb9e UTSW 13 33253494 missense probably damaging 1.00
R1924:Serpinb9e UTSW 13 33253445 missense probably benign 0.07
R1964:Serpinb9e UTSW 13 33253491 missense probably benign 0.04
R2153:Serpinb9e UTSW 13 33252978 missense probably damaging 1.00
R2405:Serpinb9e UTSW 13 33260080 missense probably benign
R2972:Serpinb9e UTSW 13 33255143 missense probably benign
R2973:Serpinb9e UTSW 13 33255143 missense probably benign
R2974:Serpinb9e UTSW 13 33255143 missense probably benign
R3854:Serpinb9e UTSW 13 33255154 missense probably benign 0.40
R4173:Serpinb9e UTSW 13 33255158 missense probably damaging 0.97
R4937:Serpinb9e UTSW 13 33252952 missense probably benign 0.11
R4949:Serpinb9e UTSW 13 33251608 missense possibly damaging 0.81
R5347:Serpinb9e UTSW 13 33257784 missense probably damaging 1.00
R5976:Serpinb9e UTSW 13 33255129 missense probably benign
R5979:Serpinb9e UTSW 13 33255053 missense probably benign 0.18
R5991:Serpinb9e UTSW 13 33259807 missense probably damaging 1.00
R6059:Serpinb9e UTSW 13 33257774 missense probably benign 0.29
R6884:Serpinb9e UTSW 13 33251626 missense probably benign 0.33
R8007:Serpinb9e UTSW 13 33251622 missense probably benign 0.27
Posted On2015-04-16