Incidental Mutation 'IGL02043:Fez2'
ID184816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fez2
Ensembl Gene ENSMUSG00000056121
Gene Namefasciculation and elongation protein zeta 2 (zygin II)
Synonymszygin 2, D17Ertd315e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.220) question?
Stock #IGL02043
Quality Score
Status
Chromosome17
Chromosomal Location78377885-78418131 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78381622 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2014-05-07