Incidental Mutation 'IGL01161:Bex3'
ID 54108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bex3
Ensembl Gene ENSMUSG00000046432
Gene Name brain expressed X-linked 3
Synonyms Gcap27, Ngfrap1, Nade, p75NTR-associated Cell Death Executor, DXWsu67e
Accession Numbers
Essential gene? Not available question?
Stock # IGL01161
Quality Score
Status
Chromosome X
Chromosomal Location 135171002-135172727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135172218 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9WTZ9
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: 103,535,463 (GRCm39) D543E probably benign Het
Acad9 A C 3: 36,144,274 (GRCm39) N583T possibly damaging Het
Arhgap5 G A 12: 52,563,643 (GRCm39) V205M probably damaging Het
Arid1b G A 17: 5,392,674 (GRCm39) R2068Q probably damaging Het
Casd1 C T 6: 4,619,833 (GRCm39) P193S possibly damaging Het
Ceacam11 A T 7: 17,712,435 (GRCm39) I295F possibly damaging Het
Ceacam3 T A 7: 16,885,782 (GRCm39) N128K probably benign Het
Cyp1a2 C T 9: 57,587,176 (GRCm39) E372K probably damaging Het
Ddb1 T G 19: 10,583,071 (GRCm39) M1R probably null Het
Ecel1 T C 1: 87,080,915 (GRCm39) D329G possibly damaging Het
Fat2 T C 11: 55,175,017 (GRCm39) N1899D probably benign Het
Gli3 A G 13: 15,722,983 (GRCm39) probably null Het
Gm20507 A T 17: 33,863,727 (GRCm39) probably benign Het
Gml T G 15: 74,685,688 (GRCm39) Y99S probably damaging Het
Gpr119 G T X: 47,762,125 (GRCm39) probably benign Het
Hcn1 T C 13: 117,793,458 (GRCm39) Y237H unknown Het
Hook2 G A 8: 85,721,560 (GRCm39) V273I probably benign Het
Il12rb2 T C 6: 67,338,849 (GRCm39) probably benign Het
Kdm2a A G 19: 4,369,279 (GRCm39) F1112S probably benign Het
Lpl A T 8: 69,345,277 (GRCm39) K94* probably null Het
Lrrc8a T A 2: 30,145,822 (GRCm39) L212Q probably damaging Het
Me2 A T 18: 73,903,887 (GRCm39) probably benign Het
Mmp11 A T 10: 75,762,655 (GRCm39) M266K probably benign Het
Mprip T A 11: 59,622,399 (GRCm39) V162E possibly damaging Het
Nsf C T 11: 103,752,711 (GRCm39) probably benign Het
Or56b2 T C 7: 104,337,588 (GRCm39) V122A probably benign Het
Pcif1 T A 2: 164,727,708 (GRCm39) L167H probably damaging Het
Reps1 T C 10: 17,969,643 (GRCm39) S249P probably damaging Het
Sdf4 T A 4: 156,093,763 (GRCm39) M299K probably benign Het
Slc30a7 A G 3: 115,747,759 (GRCm39) V344A possibly damaging Het
Svep1 G A 4: 58,146,569 (GRCm39) P358S probably damaging Het
Syt9 G T 7: 107,024,356 (GRCm39) R83L probably damaging Het
Tbc1d15 T C 10: 115,038,435 (GRCm39) I593V probably benign Het
Trio T A 15: 27,749,867 (GRCm39) N1134I probably damaging Het
Trpv3 A G 11: 73,187,544 (GRCm39) probably benign Het
Ugp2 T A 11: 21,273,273 (GRCm39) I449L possibly damaging Het
Usp24 C A 4: 106,294,041 (GRCm39) H2595N probably benign Het
Vat1l A G 8: 115,096,629 (GRCm39) N370S possibly damaging Het
Wwc1 C A 11: 35,758,103 (GRCm39) D748Y probably damaging Het
Zfyve9 G A 4: 108,538,261 (GRCm39) H1002Y probably damaging Het
Posted On 2013-06-28