Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01161:Bex3'

54108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bex3

Ensembl Gene

ENSMUSG00000046432

Gene Name

brain expressed X-linked 3

Synonyms

Ngfrap1, Gcap27, p75NTR-associated Cell Death Executor, DXWsu67e, Nade

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL01161

Quality Score

Status

Chromosome

Chromosomal Location

136270253-136271978 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136271469 bp

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]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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 On

2013-06-28