Incidental Mutation 'R4950:Fez1'
ID 381925
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 042547-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4950 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 36733160-36790220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 36779178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 285 (R285Q)
Ref Sequence ENSEMBL: ENSMUSP00000126072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034630] [ENSMUST00000161500] [ENSMUST00000162235] [ENSMUST00000163816]
AlphaFold Q8K0X8
Predicted Effect probably damaging
Transcript: ENSMUST00000034630
AA Change: R285Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034630
Gene: ENSMUSG00000032118
AA Change: R285Q

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

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

Pfam:FEZ 58 167 5.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161978
Predicted Effect probably benign
Transcript: ENSMUST00000162235
Predicted Effect probably damaging
Transcript: ENSMUST00000163816
AA Change: R285Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126072
Gene: ENSMUSG00000032118
AA Change: R285Q

Pfam:FEZ 58 297 2.7e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216539
Meta Mutation Damage Score 0.3754 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 100% (58/58)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bpifb9b A T 2: 154,153,579 (GRCm39) D215V probably damaging Het
Cacna1i A G 15: 80,252,872 (GRCm39) E625G probably damaging Het
Cage1 C T 13: 38,207,302 (GRCm39) S181N possibly damaging Het
Ccdc73 A C 2: 104,822,711 (GRCm39) I887L probably benign Het
Cfap65 T A 1: 74,945,495 (GRCm39) K1408* probably null Het
Cngb1 C A 8: 95,975,135 (GRCm39) G654W probably damaging Het
Cxcl15 A T 5: 90,943,104 (GRCm39) E35D possibly damaging Het
Ddi1 A G 9: 6,266,073 (GRCm39) S99P probably benign Het
Disp3 A T 4: 148,342,583 (GRCm39) D622E possibly damaging Het
Dnajc22 G A 15: 98,999,615 (GRCm39) V267I probably benign Het
Dph5 G A 3: 115,722,292 (GRCm39) G257S probably benign Het
Elmo2 A T 2: 165,156,733 (GRCm39) probably null Het
Fam186a T C 15: 99,839,534 (GRCm39) R2237G unknown Het
Fsip2 A T 2: 82,777,276 (GRCm39) H101L probably damaging Het
Fsip2 G A 2: 82,807,758 (GRCm39) C1359Y probably benign Het
Fxyd7 G A 7: 30,746,815 (GRCm39) T15I probably benign Het
Gpr155 A T 2: 73,212,529 (GRCm39) D31E probably benign Het
Iho1 A C 9: 108,298,709 (GRCm39) S36R probably damaging Het
Irx6 A T 8: 93,405,428 (GRCm39) Y432F probably damaging Het
Itih5 A C 2: 10,239,892 (GRCm39) I340L probably damaging Het
Lao1 T C 4: 118,822,572 (GRCm39) L164S probably damaging Het
Mcoln3 T C 3: 145,845,274 (GRCm39) I490T probably damaging Het
Mef2b T C 8: 70,619,846 (GRCm39) Y311H probably damaging Het
Mras A T 9: 99,276,537 (GRCm39) L111Q probably damaging Het
Mrc1 A G 2: 14,276,091 (GRCm39) D475G probably damaging Het
Nrcam T C 12: 44,645,273 (GRCm39) I1155T probably damaging Het
Ntrk1 A G 3: 87,696,918 (GRCm39) probably null Het
Or7e165 G A 9: 19,695,027 (GRCm39) M199I probably benign Het
Or8b38 T C 9: 37,973,297 (GRCm39) I227T probably damaging Het
Parp9 A T 16: 35,768,377 (GRCm39) I186F probably damaging Het
Pcdhac2 T A 18: 37,278,283 (GRCm39) V421E probably benign Het
Pck1 T A 2: 172,996,620 (GRCm39) I178K probably benign Het
Pde6b A G 5: 108,578,569 (GRCm39) K836E probably benign Het
Ptprd T A 4: 76,058,752 (GRCm39) probably null Het
Pwp2 A G 10: 78,018,840 (GRCm39) Y56H probably benign Het
Rarb G A 14: 16,432,085 (GRCm38) probably benign Het
Rpain C G 11: 70,861,747 (GRCm39) H50Q probably benign Het
Rps9 CTGTTTG CTG 7: 3,707,758 (GRCm39) probably null Het
Rubcn A T 16: 32,663,563 (GRCm39) S358T probably damaging Het
Ryr2 G A 13: 11,756,897 (GRCm39) R1586C probably damaging Het
Slfn9 T C 11: 82,872,730 (GRCm39) I669V probably benign Het
Slx1b T C 7: 126,290,939 (GRCm39) probably benign Het
Spsb3 T A 17: 25,106,485 (GRCm39) probably benign Het
Tbx15 A G 3: 99,233,700 (GRCm39) I288V possibly damaging Het
Tlr2 C A 3: 83,744,639 (GRCm39) E481D probably damaging Het
Trim17 A T 11: 58,861,254 (GRCm39) D253V probably damaging Het
Trim69 A G 2: 122,009,227 (GRCm39) D429G probably damaging Het
Vstm5 A G 9: 15,169,090 (GRCm39) probably null Het
Vwa3b A G 1: 37,124,413 (GRCm39) Q337R probably benign Het
Zfp113 T C 5: 138,143,734 (GRCm39) N172S probably benign Het
Zfp607a T A 7: 27,578,176 (GRCm39) H415Q probably damaging Het
Zfp87 G A 13: 67,666,018 (GRCm39) T148I 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
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
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

Sequencing Primer
Posted On 2016-04-27