Incidental Mutation 'R4214:Fez1'
ID 319349
Institutional Source Beutler Lab
Gene Symbol Fez1
Ensembl Gene ENSMUSG00000032118
Gene Name fasciculation and elongation protein zeta 1
Synonyms zygin I, UNC76, UNC-76
MMRRC Submission 041041-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4214 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 36733160-36790220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36781784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 20 (N20S)
Ref Sequence ENSEMBL: ENSMUSP00000124185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034630] [ENSMUST00000162235] [ENSMUST00000163816]
AlphaFold Q8K0X8
Predicted Effect possibly damaging
Transcript: ENSMUST00000034630
AA Change: N343S

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034630
Gene: ENSMUSG00000032118
AA Change: N343S

DomainStartEndE-ValueType
Pfam:FEZ 58 300 3.4e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159137
Predicted Effect probably benign
Transcript: ENSMUST00000160041
SMART Domains Protein: ENSMUSP00000124648
Gene: ENSMUSG00000032118

DomainStartEndE-ValueType
Pfam:FEZ 35 87 4.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161978
Predicted Effect probably damaging
Transcript: ENSMUST00000162235
AA Change: N20S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000163816
AA Change: N343S

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126072
Gene: ENSMUSG00000032118
AA Change: N343S

DomainStartEndE-ValueType
Pfam:FEZ 58 297 2.7e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216539
Meta Mutation Damage Score 0.1975 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.5%
Validation Efficiency 98% (64/65)
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. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperactivity and increased sensitivity to methamphetamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik C T 1: 192,515,845 (GRCm39) noncoding transcript Het
Abca12 T A 1: 71,327,856 (GRCm39) D1408V probably damaging Het
Abca13 A T 11: 9,243,877 (GRCm39) L1913F probably damaging Het
Acad9 A G 3: 36,127,752 (GRCm39) E118G probably damaging Het
Adamts5 G A 16: 85,665,531 (GRCm39) A590V probably damaging Het
Ano6 A C 15: 95,863,790 (GRCm39) Y791S probably benign Het
Aox1 T C 1: 58,346,603 (GRCm39) probably null Het
Aox4 T A 1: 58,261,051 (GRCm39) I128N probably damaging Het
Atp2b3 A G X: 72,613,921 (GRCm39) M1142V probably benign Het
AU041133 A G 10: 81,987,223 (GRCm39) H292R probably damaging Het
Bco2 A G 9: 50,456,666 (GRCm39) M158T probably benign Het
Bpnt1 T A 1: 185,077,626 (GRCm39) probably benign Het
Cadm1 A G 9: 47,708,741 (GRCm39) D157G probably damaging Het
Catsperg1 T C 7: 28,895,357 (GRCm39) R499G possibly damaging Het
Ccr7 T C 11: 99,035,872 (GRCm39) E350G probably damaging Het
Ceacam5 T A 7: 17,486,076 (GRCm39) S524R probably benign Het
Cep78 T C 19: 15,936,943 (GRCm39) T588A probably benign Het
Cfap65 T A 1: 74,966,840 (GRCm39) E282D possibly damaging Het
Drd2 A G 9: 49,316,221 (GRCm39) K327R probably benign Het
Erich5 C T 15: 34,471,557 (GRCm39) P262L possibly damaging Het
Ezh2 A C 6: 47,510,748 (GRCm39) D578E probably damaging Het
Folr2 T G 7: 101,492,906 (GRCm39) K39T probably damaging Het
Gm10549 G T 18: 33,597,530 (GRCm39) probably null Het
Gm14393 C T 2: 174,903,640 (GRCm39) C89Y probably benign Het
Gm5329 T G 7: 31,671,828 (GRCm39) noncoding transcript Het
Gm7367 A G 7: 59,805,517 (GRCm39) noncoding transcript Het
Gpr162 A T 6: 124,837,031 (GRCm39) W338R probably damaging Het
Ift80 A T 3: 68,898,141 (GRCm39) F65I possibly damaging Het
Klra6 T G 6: 129,995,885 (GRCm39) I158L probably benign Het
Lpp T A 16: 24,580,804 (GRCm39) Y173* probably null Het
Lrp12 A G 15: 39,735,976 (GRCm39) V671A probably benign Het
Lrrc27 C T 7: 138,803,609 (GRCm39) R178C probably damaging Het
Lrrc49 G A 9: 60,573,609 (GRCm39) T225M probably benign Het
Megf8 T A 7: 25,054,793 (GRCm39) S1915T probably benign Het
Mmadhc T C 2: 50,181,344 (GRCm39) T109A probably benign Het
Mon2 T C 10: 122,852,397 (GRCm39) E992G probably benign Het
Msl3 A G X: 167,450,059 (GRCm39) I267T probably damaging Het
Msl3 A T X: 167,445,430 (GRCm39) N430K probably damaging Het
Nab2 G T 10: 127,500,917 (GRCm39) Y25* probably null Het
Notch3 T C 17: 32,351,181 (GRCm39) E1938G possibly damaging Het
Or5ae2 C T 7: 84,506,497 (GRCm39) H307Y probably benign Het
Osgepl1 A G 1: 53,354,167 (GRCm39) T44A probably damaging Het
Pdpr A G 8: 111,856,212 (GRCm39) probably benign Het
Pfkp A G 13: 6,669,261 (GRCm39) S241P probably damaging Het
Phgdh A T 3: 98,235,377 (GRCm39) S166T possibly damaging Het
Plcl1 C T 1: 55,790,494 (GRCm39) Q1055* probably null Het
Plscr2 A G 9: 92,169,790 (GRCm39) N80S probably benign Het
Polr3k A T 2: 181,510,035 (GRCm39) M80L probably benign Het
Prex2 A G 1: 11,171,383 (GRCm39) D304G probably damaging Het
Prex2 A G 1: 11,355,285 (GRCm39) T1529A probably damaging Het
Rcvrn A T 11: 67,586,514 (GRCm39) H91L possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Tbx18 T C 9: 87,606,518 (GRCm39) Y209C probably damaging Het
Themis3 T C 17: 66,867,012 (GRCm39) N76S probably benign Het
Trhde A T 10: 114,623,975 (GRCm39) S310T possibly damaging Het
Vmn1r213 G A 13: 23,196,173 (GRCm39) C252Y possibly damaging Het
Zfp523 T C 17: 28,420,003 (GRCm39) V216A probably benign Het
Other mutations in Fez1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02540:Fez1 APN 9 36,761,695 (GRCm39) missense probably damaging 0.97
R1280:Fez1 UTSW 9 36,781,845 (GRCm39) frame shift probably null
R1458:Fez1 UTSW 9 36,781,845 (GRCm39) frame shift probably null
R1741:Fez1 UTSW 9 36,755,029 (GRCm39) missense probably damaging 1.00
R1846:Fez1 UTSW 9 36,779,063 (GRCm39) missense probably damaging 1.00
R2072:Fez1 UTSW 9 36,779,241 (GRCm39) missense probably benign 0.00
R4193:Fez1 UTSW 9 36,755,023 (GRCm39) missense probably damaging 1.00
R4417:Fez1 UTSW 9 36,781,768 (GRCm39) splice site probably benign
R4696:Fez1 UTSW 9 36,781,766 (GRCm39) splice site probably null
R4735:Fez1 UTSW 9 36,772,141 (GRCm39) nonsense probably null
R4947:Fez1 UTSW 9 36,780,171 (GRCm39) missense probably damaging 0.99
R4950:Fez1 UTSW 9 36,779,178 (GRCm39) missense probably damaging 1.00
R5538:Fez1 UTSW 9 36,780,172 (GRCm39) missense probably damaging 1.00
R5618:Fez1 UTSW 9 36,755,228 (GRCm39) missense probably damaging 1.00
R5742:Fez1 UTSW 9 36,761,743 (GRCm39) critical splice donor site probably null
R7089:Fez1 UTSW 9 36,778,999 (GRCm39) missense probably benign 0.00
R7250:Fez1 UTSW 9 36,779,090 (GRCm39) missense probably damaging 1.00
R7387:Fez1 UTSW 9 36,779,108 (GRCm39) missense probably damaging 1.00
R7653:Fez1 UTSW 9 36,772,146 (GRCm39) missense probably benign 0.38
R7662:Fez1 UTSW 9 36,781,796 (GRCm39) missense probably damaging 1.00
R7974:Fez1 UTSW 9 36,755,244 (GRCm39) missense probably damaging 1.00
R8341:Fez1 UTSW 9 36,787,605 (GRCm39) missense possibly damaging 0.94
R9414:Fez1 UTSW 9 36,779,247 (GRCm39) missense probably benign
R9484:Fez1 UTSW 9 36,755,093 (GRCm39) missense probably benign
R9549:Fez1 UTSW 9 36,780,211 (GRCm39) missense possibly damaging 0.91
Z1177:Fez1 UTSW 9 36,779,055 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CCCCATTGATACAGGAAAGCTTAC -3'
(R):5'- TGCAGAAATTCTTGCCCCATG -3'

Sequencing Primer
(F):5'- TGATACAGGAAAGCTTACTTTTGAG -3'
(R):5'- GCCATCCTAAAGAAATCTGGAAACTG -3'
Posted On 2015-06-10