Incidental Mutation 'R5742:Fez1'
ID 501480
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 043352-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5742 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 36733160-36790220 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 36761743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034630] [ENSMUST00000161500] [ENSMUST00000162633] [ENSMUST00000163816]
AlphaFold Q8K0X8
Predicted Effect probably null
Transcript: ENSMUST00000034630
SMART Domains Protein: ENSMUSP00000034630
Gene: ENSMUSG00000032118

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

Pfam:FEZ 35 87 4.6e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161500
SMART Domains Protein: ENSMUSP00000123762
Gene: ENSMUSG00000032118

Pfam:FEZ 58 167 5.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162633
SMART Domains Protein: ENSMUSP00000124634
Gene: ENSMUSG00000032118

Pfam:FEZ 58 123 6.3e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000163816
SMART Domains Protein: ENSMUSP00000126072
Gene: ENSMUSG00000032118

Pfam:FEZ 58 297 2.7e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216539
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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. 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,056,379 (GRCm39) A794T possibly damaging Het
Abca9 T G 11: 110,051,243 (GRCm39) E151A probably damaging Het
Abcb5 A G 12: 118,881,992 (GRCm39) V579A probably damaging Het
Apob T A 12: 8,057,191 (GRCm39) L1858Q probably damaging Het
Cerk C T 15: 86,025,773 (GRCm39) E223K probably damaging Het
Cntnap2 T A 6: 45,897,860 (GRCm39) Y179* probably null Het
Ddx60 A T 8: 62,401,955 (GRCm39) Y277F probably benign Het
Dlgap1 T G 17: 71,025,194 (GRCm39) V538G probably benign Het
Duox2 A G 2: 122,115,402 (GRCm39) I1050T probably benign Het
Dusp10 A G 1: 183,769,853 (GRCm39) probably null Het
Dync2h1 T A 9: 7,165,762 (GRCm39) I500F possibly damaging Het
Erich3 T A 3: 154,438,960 (GRCm39) C398S probably damaging Het
Fkbp3 A C 12: 65,116,812 (GRCm39) H41Q probably benign Het
Fras1 C G 5: 96,916,240 (GRCm39) Q3425E possibly damaging Het
Fuca1 T C 4: 135,650,286 (GRCm39) V119A probably damaging Het
Grhl2 A G 15: 37,328,616 (GRCm39) K414R probably damaging Het
Heatr5a A T 12: 52,002,335 (GRCm39) C200* probably null Het
Hmgcs2 A G 3: 98,204,832 (GRCm39) N330S probably benign Het
Hspd1 A G 1: 55,123,766 (GRCm39) V118A probably benign Het
Jmjd1c A G 10: 67,056,112 (GRCm39) T511A probably benign Het
Kat6b T C 14: 21,718,503 (GRCm39) S1061P probably damaging Het
Kcnh6 T C 11: 105,899,968 (GRCm39) V79A probably benign Het
Kel C T 6: 41,675,961 (GRCm39) G243E probably damaging Het
Klc4 C T 17: 46,953,197 (GRCm39) R111Q probably damaging Het
Lrp1 T C 10: 127,384,216 (GRCm39) D3641G probably damaging Het
Map2k1 A T 9: 64,101,053 (GRCm39) D208E probably damaging Het
Masp1 T A 16: 23,273,675 (GRCm39) M588L probably benign Het
Mgl2 T A 11: 70,027,510 (GRCm39) N239K probably benign Het
Mki67 G A 7: 135,306,102 (GRCm39) T625M probably benign Het
Ndufb5 T C 3: 32,801,930 (GRCm39) Y112H probably damaging Het
Npr3 A G 15: 11,883,494 (GRCm39) S312P probably damaging Het
Nuf2 A T 1: 169,344,191 (GRCm39) I125N probably damaging Het
Obox1 G A 7: 15,289,430 (GRCm39) G73D possibly damaging Het
Odad4 G A 11: 100,436,699 (GRCm39) G25R possibly damaging Het
Or51a43 G T 7: 103,717,412 (GRCm39) H275Q probably damaging Het
Or8g19 T A 9: 39,055,974 (GRCm39) F193I probably benign Het
Pcdhb15 T C 18: 37,607,820 (GRCm39) S351P probably damaging Het
Phc2 G T 4: 128,639,661 (GRCm39) R121L probably damaging Het
Pla2g2a A G 4: 138,560,653 (GRCm39) K87E probably benign Het
Plekhh2 T A 17: 84,905,408 (GRCm39) S1101T probably damaging Het
Ppp4r1 T C 17: 66,144,741 (GRCm39) I786T probably damaging Het
Prxl2a T C 14: 40,724,460 (GRCm39) E57G possibly damaging Het
Ros1 A T 10: 52,018,234 (GRCm39) probably null Het
Styxl2 A T 1: 165,927,023 (GRCm39) V863E probably benign Het
Trnt1 T A 6: 106,755,878 (GRCm39) L311* probably null Het
Vmn1r47 T A 6: 89,999,500 (GRCm39) L211M probably damaging Het
Zfp12 A G 5: 143,230,945 (GRCm39) E424G probably damaging Het
Zranb2 T A 3: 157,246,340 (GRCm39) Y17* probably null 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
R4214:Fez1 UTSW 9 36,781,784 (GRCm39) missense probably damaging 0.99
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
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

Sequencing Primer
Posted On 2017-12-01