Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00861:Nxph2'

12817

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nxph2

Ensembl Gene

ENSMUSG00000069132

Gene Name

neurexophilin 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL00861

Quality Score

Status

Chromosome

Chromosomal Location

23321246-23401973 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23399962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 109 (F109I)

Ref Sequence

ENSEMBL: ENSMUSP00000100009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102945]

AlphaFold

Q61199

Predicted Effect

probably damaging
Transcript: ENSMUST00000102945
AA Change: F109I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100009
Gene: ENSMUSG00000069132
AA Change: F109I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Neurexophilin	50	261	7.9e-99	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adm2	G	A	15: 89,323,285		probably benign	Het
Ambra1	T	A	2: 91,770,926	D189E	possibly damaging	Het
Atg16l1	G	A	1: 87,774,838	G274S	probably damaging	Het
Cdh7	C	A	1: 110,060,988		probably benign	Het
Chat	T	C	14: 32,449,023	Y173C	probably damaging	Het
Crygd	C	T	1: 65,062,091	R115Q	probably benign	Het
Ctnnd1	T	C	2: 84,603,752	D874G	probably damaging	Het
Dbt	G	A	3: 116,546,114	G384S	probably benign	Het
Depdc5	T	C	5: 32,967,814		probably null	Het
Eef1b2	G	A	1: 63,178,506	G91R	probably damaging	Het
Fut10	G	T	8: 31,235,705	V163F	probably damaging	Het
Glmn	A	T	5: 107,570,139	M304K	possibly damaging	Het
Klra6	A	G	6: 130,023,700	V47A	possibly damaging	Het
Lgi2	T	C	5: 52,538,121	K491E	probably benign	Het
Lrrc72	T	A	12: 36,221,508	Q138L	probably benign	Het
Oosp3	A	G	19: 11,711,640	D84G	probably benign	Het
Pdzd3	A	G	9: 44,249,636	L211P	possibly damaging	Het
Poc1b	C	T	10: 99,129,652	R106C	probably benign	Het
Ptk2	A	G	15: 73,262,547	S568P	probably damaging	Het
Slc4a5	A	G	6: 83,299,471	I1093V	probably benign	Het
Snx2	G	A	18: 53,210,797		probably null	Het
Washc5	G	T	15: 59,337,276	T1033K	probably damaging	Het

Other mutations in Nxph2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00578:Nxph2	APN	2	23400322	missense	probably damaging	1.00
IGL00655:Nxph2	APN	2	23400141	missense	possibly damaging	0.53
IGL01358:Nxph2	APN	2	23400074	missense	probably damaging	1.00
IGL01733:Nxph2	APN	2	23400125	missense	probably benign	0.00
IGL01983:Nxph2	APN	2	23399934	missense	probably benign	0.32
IGL02739:Nxph2	APN	2	23399900	missense	probably benign	0.06
IGL02983:Nxph2	APN	2	23400362	missense	probably damaging	1.00
IGL03013:Nxph2	APN	2	23399933	missense	probably benign	0.08
R4392:Nxph2	UTSW	2	23400272	missense	probably damaging	0.99
R4796:Nxph2	UTSW	2	23399858	missense	probably benign	0.00
R4877:Nxph2	UTSW	2	23399834	missense	probably benign	0.00
R5038:Nxph2	UTSW	2	23321544	splice site	probably null
R8057:Nxph2	UTSW	2	23400095	missense	possibly damaging	0.89
R8461:Nxph2	UTSW	2	23321517	missense	unknown
R8869:Nxph2	UTSW	2	23400059	missense	probably damaging	1.00
R9100:Nxph2	UTSW	2	23399768	missense	probably benign	0.13
R9704:Nxph2	UTSW	2	23399711	missense	probably benign	0.00
RF004:Nxph2	UTSW	2	23400068	missense	probably damaging	1.00
Z1088:Nxph2	UTSW	2	23400217	missense	probably benign	0.10

Posted On

2012-12-06