Incidental Mutation 'R7184:Fezf1'
ID 559174
Institutional Source Beutler Lab
Gene Symbol Fezf1
Ensembl Gene ENSMUSG00000029697
Gene Name Fez family zinc finger 1
Synonyms 3110069A13Rik, Zfp312-like, Fez
MMRRC Submission 045236-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 23245043-23248361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23247835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 80 (V80A)
Ref Sequence ENSEMBL: ENSMUSP00000031709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031709]
AlphaFold Q0VDQ9
Predicted Effect probably benign
Transcript: ENSMUST00000031709
AA Change: V80A

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: V80A

DomainStartEndE-ValueType
low complexity region 102 114 N/A INTRINSIC
ZnF_C2H2 260 282 1.58e-3 SMART
ZnF_C2H2 288 310 3.39e-3 SMART
ZnF_C2H2 316 338 1.38e-3 SMART
ZnF_C2H2 344 366 2.57e-3 SMART
ZnF_C2H2 372 394 2.53e-2 SMART
ZnF_C2H2 400 423 1.38e-3 SMART
low complexity region 441 467 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a null mutation of this gene display neonatal lethality, impaired olfactory bulb development and impaired olfactory bulb interneuron migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) probably null Het
Other mutations in Fezf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Fezf1 APN 6 23,247,842 (GRCm39) missense possibly damaging 0.76
IGL02538:Fezf1 APN 6 23,246,557 (GRCm39) missense probably damaging 1.00
IGL02983:Fezf1 APN 6 23,247,871 (GRCm39) missense probably damaging 0.99
IGL03372:Fezf1 APN 6 23,246,909 (GRCm39) missense probably damaging 1.00
R0494:Fezf1 UTSW 6 23,246,054 (GRCm39) missense probably damaging 1.00
R0612:Fezf1 UTSW 6 23,247,028 (GRCm39) missense probably damaging 1.00
R0836:Fezf1 UTSW 6 23,246,998 (GRCm39) missense probably benign 0.01
R1930:Fezf1 UTSW 6 23,246,906 (GRCm39) missense probably damaging 1.00
R1931:Fezf1 UTSW 6 23,246,906 (GRCm39) missense probably damaging 1.00
R2103:Fezf1 UTSW 6 23,247,331 (GRCm39) missense possibly damaging 0.55
R2104:Fezf1 UTSW 6 23,247,331 (GRCm39) missense possibly damaging 0.55
R2233:Fezf1 UTSW 6 23,246,002 (GRCm39) missense probably damaging 1.00
R3404:Fezf1 UTSW 6 23,247,283 (GRCm39) missense probably benign 0.13
R3950:Fezf1 UTSW 6 23,247,419 (GRCm39) nonsense probably null
R4209:Fezf1 UTSW 6 23,246,616 (GRCm39) missense probably damaging 0.99
R4400:Fezf1 UTSW 6 23,247,709 (GRCm39) missense probably benign 0.22
R4614:Fezf1 UTSW 6 23,247,857 (GRCm39) missense possibly damaging 0.71
R5287:Fezf1 UTSW 6 23,248,010 (GRCm39) missense probably benign
R5878:Fezf1 UTSW 6 23,247,580 (GRCm39) missense possibly damaging 0.71
R5943:Fezf1 UTSW 6 23,246,948 (GRCm39) nonsense probably null
R5952:Fezf1 UTSW 6 23,247,427 (GRCm39) missense probably benign 0.08
R6663:Fezf1 UTSW 6 23,247,527 (GRCm39) missense probably damaging 1.00
R7158:Fezf1 UTSW 6 23,245,789 (GRCm39) missense probably benign
R8679:Fezf1 UTSW 6 23,247,769 (GRCm39) missense probably benign
R9137:Fezf1 UTSW 6 23,246,511 (GRCm39) splice site probably benign
R9294:Fezf1 UTSW 6 23,245,797 (GRCm39) missense possibly damaging 0.96
R9510:Fezf1 UTSW 6 23,247,845 (GRCm39) missense probably benign 0.01
R9668:Fezf1 UTSW 6 23,247,574 (GRCm39) missense probably benign 0.00
X0025:Fezf1 UTSW 6 23,247,908 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCCATGGCGTGAAACGAAG -3'
(R):5'- TGAGCACATCTAAACCCTTGGC -3'

Sequencing Primer
(F):5'- ACTGCTGTAGTGGCAATGC -3'
(R):5'- GGCTTTCTCCATCGAACGAATCATG -3'
Posted On 2019-06-26