Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02043:Fez2'

184816

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fez2

Ensembl Gene

ENSMUSG00000056121

Gene Name

fasciculation and elongation protein zeta 2 (zygin II)

Synonyms

zygin 2, D17Ertd315e

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.220) question?

Stock #

IGL02043

Quality Score

Status

Chromosome

Chromosomal Location

78377885-78418131 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78381622 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 366 (D366G)

Ref Sequence

ENSEMBL: ENSMUSP00000108106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070039] [ENSMUST00000112487]

Predicted Effect

probably damaging
Transcript: ENSMUST00000070039
AA Change: D339G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068987
Gene: ENSMUSG00000056121
AA Change: D339G

Domain	Start	End	E-Value	Type
Pfam:FEZ	42	284	7.2e-106	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112487
AA Change: D366G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108106
Gene: ENSMUSG00000056121
AA Change: D366G

Domain	Start	End	E-Value	Type
Pfam:FEZ	42	281	2.2e-96	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	G	4: 107,894,868		probably benign	Het
Atp1b2	T	C	11: 69,605,276	T33A	probably benign	Het
Brd2	A	T	17: 34,112,616		probably benign	Het
Carmil1	T	C	13: 24,024,316		probably benign	Het
Cdh9	A	T	15: 16,856,232	D786V	probably damaging	Het
Cep128	A	C	12: 91,266,730		probably benign	Het
Cep85	T	C	4: 134,155,727	T284A	probably benign	Het
Chrna1	C	T	2: 73,568,106	E330K	probably benign	Het
Clec2l	T	C	6: 38,676,850	Y104H	probably damaging	Het
Clybl	G	T	14: 122,379,252	K226N	probably damaging	Het
Cmip	T	A	8: 117,445,328	D467E	probably benign	Het
Cpne3	A	T	4: 19,543,340		probably null	Het
Crisp4	A	G	1: 18,134,100	V46A	probably damaging	Het
Csnk2a1	T	C	2: 152,274,150	Y261H	probably damaging	Het
Cul5	C	A	9: 53,658,673	G86V	probably benign	Het
Depdc7	T	C	2: 104,730,281	T123A	probably benign	Het
Edem2	T	C	2: 155,705,741	T384A	probably damaging	Het
F8	C	T	X: 75,332,641	M377I	probably benign	Het
Fan1	T	A	7: 64,371,619		probably null	Het
Gm4841	A	C	18: 60,270,965	S19A	probably benign	Het
Gm4862	T	A	3: 139,128,635		noncoding transcript	Het
Hk3	T	A	13: 55,015,095	Q44L	probably damaging	Het
Irgm1	C	A	11: 48,866,815	L56F	probably damaging	Het
Ldlr	A	G	9: 21,733,499	T108A	probably benign	Het
Lgr4	T	A	2: 110,011,290	M516K	probably damaging	Het
Lrp1b	T	C	2: 40,697,525	N3906S	probably null	Het
Lrrtm4	A	G	6: 80,021,862	N86D	possibly damaging	Het
Map3k2	A	G	18: 32,207,534	D198G	probably damaging	Het
Mapkapk3	C	T	9: 107,262,422		probably null	Het
Mvp	A	T	7: 126,993,618	Y374N	probably damaging	Het
Myo3a	T	C	2: 22,399,965	S711P	probably benign	Het
Myom3	A	G	4: 135,770,675	K189E	probably damaging	Het
Naip1	T	A	13: 100,426,796	K620N	probably benign	Het
Nlrp10	T	C	7: 108,925,502	E257G	probably damaging	Het
Nptn	T	G	9: 58,640,729	M139R	possibly damaging	Het
Nrk	T	G	X: 138,988,795	M1105R	possibly damaging	Het
Olfr357	T	A	2: 36,997,465	Y218*	probably null	Het
Olfr519	A	T	7: 108,893,839	C189*	probably null	Het
Olfr963	T	G	9: 39,669,078	V7G	probably damaging	Het
Pcdhb16	A	G	18: 37,479,195	T403A	probably benign	Het
Pcyt1b	A	G	X: 93,702,116	E50G	possibly damaging	Het
Pigg	C	T	5: 108,344,324	T892I	probably damaging	Het
Ppig	T	G	2: 69,735,983		probably null	Het
Prr12	A	G	7: 45,050,005		probably benign	Het
Slc5a5	G	T	8: 70,892,429	A78E	possibly damaging	Het
Slc7a2	T	G	8: 40,911,058	M436R	probably benign	Het
Sp7	T	A	15: 102,359,255	M39L	probably benign	Het
Spag8	T	A	4: 43,653,134		probably benign	Het
Svep1	A	G	4: 58,068,556	S3077P	probably benign	Het
Tmem30a	A	T	9: 79,774,089		probably benign	Het
Tmem63a	C	T	1: 180,972,788	T714I	probably benign	Het
Trank1	T	C	9: 111,363,960	L535P	probably damaging	Het
Tuba8	A	C	6: 121,220,511	N44T	probably benign	Het
Wnk1	A	G	6: 119,949,078		probably benign	Het
Zfp654	A	T	16: 64,785,028	I396K	probably benign	Het

Other mutations in Fez2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Fez2	APN	17	78381600	splice site	probably benign
IGL01633:Fez2	APN	17	78404718	splice site	probably benign
IGL02898:Fez2	APN	17	78384755	missense	probably benign	0.03
R0433:Fez2	UTSW	17	78418047	missense	probably damaging	1.00
R0472:Fez2	UTSW	17	78384832	splice site	probably benign
R0753:Fez2	UTSW	17	78400686	small deletion	probably benign
R4629:Fez2	UTSW	17	78402754	missense	probably benign	0.00
R4646:Fez2	UTSW	17	78412928	missense	probably damaging	1.00
R5955:Fez2	UTSW	17	78387043	missense	probably damaging	1.00

Posted On

2014-05-07