Incidental Mutation 'IGL01067:Fezf1'
ID 51245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fezf1
Ensembl Gene ENSMUSG00000029697
Gene Name Fez family zinc finger 1
Synonyms 3110069A13Rik, Zfp312-like, Fez
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01067
Quality Score
Status
Chromosome 6
Chromosomal Location 23245043-23248361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23247842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 78 (V78I)
Ref Sequence ENSEMBL: ENSMUSP00000031709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031709]
AlphaFold Q0VDQ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000031709
AA Change: V78I

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: V78I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202489
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 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
A330008L17Rik T C 8: 100,148,586 (GRCm39) noncoding transcript Het
Acp4 C T 7: 43,902,876 (GRCm39) V331I probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Alg6 T C 4: 99,629,807 (GRCm39) V128A probably benign Het
Ank3 A G 10: 69,686,026 (GRCm39) K280E probably damaging Het
Bfar T C 16: 13,503,105 (GRCm39) C36R probably damaging Het
Car14 A G 3: 95,806,128 (GRCm39) I311T probably damaging Het
Cd300c T C 11: 114,851,253 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,096 (GRCm39) E513V probably damaging Het
Clip1 C A 5: 123,768,867 (GRCm39) K612N probably damaging Het
Depdc5 A G 5: 33,056,411 (GRCm39) probably null Het
Dock3 A T 9: 106,959,572 (GRCm39) probably null Het
Dph6 A T 2: 114,478,290 (GRCm39) M17K probably damaging Het
Enkur T C 2: 21,194,042 (GRCm39) Q177R probably benign Het
Faap100 T C 11: 120,262,958 (GRCm39) H800R probably damaging Het
Fastkd2 T G 1: 63,776,930 (GRCm39) probably benign Het
Fcgr2b A T 1: 170,795,622 (GRCm39) N102K possibly damaging Het
Fmn2 A T 1: 174,330,885 (GRCm39) D425V unknown Het
Fnta G A 8: 26,497,229 (GRCm39) Q207* probably null Het
Fpr3 T A 17: 18,190,828 (GRCm39) V33D probably benign Het
Fshr C T 17: 89,292,821 (GRCm39) C619Y possibly damaging Het
Gbp3 T C 3: 142,272,358 (GRCm39) probably null Het
Gjb2 A G 14: 57,337,629 (GRCm39) V193A possibly damaging Het
Il4ra A G 7: 125,174,333 (GRCm39) T292A probably benign Het
Lama5 A G 2: 179,818,336 (GRCm39) probably benign Het
Marveld3 G T 8: 110,688,596 (GRCm39) D48E possibly damaging Het
Meox1 A T 11: 101,784,599 (GRCm39) I78N probably benign Het
Ncor1 A T 11: 62,283,354 (GRCm39) H444Q probably damaging Het
Ndst3 T C 3: 123,340,466 (GRCm39) Q784R probably damaging Het
Or10ag2 A G 2: 87,248,714 (GRCm39) I107M probably benign Het
Or4k44 T A 2: 111,368,359 (GRCm39) I92F probably damaging Het
Pld5 A T 1: 176,102,445 (GRCm39) probably benign Het
Plk1 G A 7: 121,768,148 (GRCm39) R456H probably damaging Het
Polr2a T A 11: 69,638,840 (GRCm39) I65F possibly damaging Het
Ptprd T A 4: 75,977,922 (GRCm39) I196F probably damaging Het
Qsox2 T C 2: 26,118,408 (GRCm39) N121S probably damaging Het
Reln A G 5: 22,184,664 (GRCm39) L1617S probably damaging Het
Rragc T C 4: 123,823,761 (GRCm39) F345L probably benign Het
Sass6 A T 3: 116,407,605 (GRCm39) E240D possibly damaging Het
Shcbp1l A C 1: 153,311,770 (GRCm39) S308R possibly damaging Het
Slc1a5 T A 7: 16,520,804 (GRCm39) C224* probably null Het
Slc27a5 T C 7: 12,722,999 (GRCm39) E567G probably damaging Het
Synj2 T A 17: 6,088,201 (GRCm39) N1417K possibly damaging Het
Tbc1d9 A G 8: 83,960,791 (GRCm39) T214A probably damaging Het
Tjp3 C A 10: 81,109,699 (GRCm39) V835L probably benign Het
Trpc4 C A 3: 54,129,983 (GRCm39) Q250K probably benign Het
Ttn A T 2: 76,575,506 (GRCm39) I25129N probably damaging Het
Ube4a T A 9: 44,856,163 (GRCm39) Y523F probably damaging Het
Zfp971 G A 2: 177,665,175 (GRCm39) probably null Het
Other mutations in Fezf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7184:Fezf1 UTSW 6 23,247,835 (GRCm39) missense probably benign 0.31
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
Posted On 2013-06-21