Incidental Mutation 'IGL01161:Bex3'
ID54108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bex3
Ensembl Gene ENSMUSG00000046432
Gene Namebrain expressed X-linked 3
SynonymsNgfrap1, Gcap27, p75NTR-associated Cell Death Executor, DXWsu67e, Nade
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01161
Quality Score
Status
ChromosomeX
Chromosomal Location136270253-136271978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 136271469 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 60 (F60S)
Ref Sequence ENSEMBL: ENSMUSP00000136952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053540] [ENSMUST00000113112] [ENSMUST00000113113] [ENSMUST00000178632]
Predicted Effect probably damaging
Transcript: ENSMUST00000053540
AA Change: F60S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063039
Gene: ENSMUSG00000046432
AA Change: F60S

DomainStartEndE-ValueType
Pfam:BEX 1 123 3.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113112
AA Change: F50S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108737
Gene: ENSMUSG00000046432
AA Change: F50S

DomainStartEndE-ValueType
Pfam:BEX 1 113 2.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113113
AA Change: F60S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108738
Gene: ENSMUSG00000046432
AA Change: F60S

DomainStartEndE-ValueType
Pfam:BEX 1 120 1.1e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178632
AA Change: F60S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136952
Gene: ENSMUSG00000046432
AA Change: F60S

DomainStartEndE-ValueType
Pfam:BEX 1 123 3.9e-23 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T A 2: 103,705,118 D543E probably benign Het
Acad9 A C 3: 36,090,125 N583T possibly damaging Het
Arhgap5 G A 12: 52,516,860 V205M probably damaging Het
Arid1b G A 17: 5,342,399 R2068Q probably damaging Het
Casd1 C T 6: 4,619,833 P193S possibly damaging Het
Ceacam11 A T 7: 17,978,510 I295F possibly damaging Het
Ceacam3 T A 7: 17,151,857 N128K probably benign Het
Cyp1a2 C T 9: 57,679,893 E372K probably damaging Het
Ddb1 T G 19: 10,605,707 M1R probably null Het
Ecel1 T C 1: 87,153,193 D329G possibly damaging Het
Fat2 T C 11: 55,284,191 N1899D probably benign Het
Gli3 A G 13: 15,548,398 probably null Het
Gm20507 A T 17: 33,644,753 probably benign Het
Gml T G 15: 74,813,839 Y99S probably damaging Het
Gpr119 G T X: 48,673,248 probably benign Het
Hcn1 T C 13: 117,656,922 Y237H unknown Het
Hook2 G A 8: 84,994,931 V273I probably benign Het
Il12rb2 T C 6: 67,361,865 probably benign Het
Kdm2a A G 19: 4,319,251 F1112S probably benign Het
Lpl A T 8: 68,892,625 K94* probably null Het
Lrrc8a T A 2: 30,255,810 L212Q probably damaging Het
Me2 A T 18: 73,770,816 probably benign Het
Mmp11 A T 10: 75,926,821 M266K probably benign Het
Mprip T A 11: 59,731,573 V162E possibly damaging Het
Nsf C T 11: 103,861,885 probably benign Het
Olfr661 T C 7: 104,688,381 V122A probably benign Het
Pcif1 T A 2: 164,885,788 L167H probably damaging Het
Reps1 T C 10: 18,093,895 S249P probably damaging Het
Sdf4 T A 4: 156,009,306 M299K probably benign Het
Slc30a7 A G 3: 115,954,110 V344A possibly damaging Het
Svep1 G A 4: 58,146,569 P358S probably damaging Het
Syt9 G T 7: 107,425,149 R83L probably damaging Het
Tbc1d15 T C 10: 115,202,530 I593V probably benign Het
Trio T A 15: 27,749,781 N1134I probably damaging Het
Trpv3 A G 11: 73,296,718 probably benign Het
Ugp2 T A 11: 21,323,273 I449L possibly damaging Het
Usp24 C A 4: 106,436,844 H2595N probably benign Het
Vat1l A G 8: 114,369,889 N370S possibly damaging Het
Wwc1 C A 11: 35,867,276 D748Y probably damaging Het
Zfyve9 G A 4: 108,681,064 H1002Y probably damaging Het
Posted On2013-06-28