Incidental Mutation 'R6663:Fezf1'
ID 526871
Institutional Source Beutler Lab
Gene Symbol Fezf1
Ensembl Gene ENSMUSG00000029697
Gene Name Fez family zinc finger 1
Synonyms 3110069A13Rik, Zfp312-like, Fez
MMRRC Submission 044783-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6663 (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 23247527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 183 (S183P)
Ref Sequence ENSEMBL: ENSMUSP00000031709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031709]
AlphaFold Q0VDQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000031709
AA Change: S183P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: S183P

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 100% (32/32)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 A G 5: 90,411,923 (GRCm39) S1314P probably damaging Het
Btbd3 T A 2: 138,121,003 (GRCm39) I59K probably benign Het
Clcn2 A G 16: 20,521,995 (GRCm39) *865R probably null Het
Col22a1 T C 15: 71,691,908 (GRCm39) Q749R unknown Het
Cpsf2 T C 12: 101,965,852 (GRCm39) Y606H probably damaging Het
Csn1s1 T C 5: 87,823,599 (GRCm39) V154A probably benign Het
Cux1 T A 5: 136,514,701 (GRCm39) E23V probably damaging Het
Cyp2j9 C A 4: 96,467,679 (GRCm39) W269L probably benign Het
Dbf4 T C 5: 8,453,184 (GRCm39) M273V probably benign Het
Dnhd1 A G 7: 105,334,899 (GRCm39) probably null Het
Irx2 A G 13: 72,777,248 (GRCm39) Y23C probably damaging Het
Itga1 A T 13: 115,110,641 (GRCm39) N983K probably benign Het
Kifc1 A G 17: 34,100,430 (GRCm39) probably benign Het
Lrrc14b T C 13: 74,509,480 (GRCm39) N309S probably damaging Het
Lyst A T 13: 13,838,701 (GRCm39) probably null Het
Map1b T C 13: 99,566,530 (GRCm39) T2064A unknown Het
Mark3 T A 12: 111,541,517 (GRCm39) N11K probably benign Het
Med6 T A 12: 81,628,649 (GRCm39) D80V possibly damaging Het
Mfhas1 A G 8: 36,056,272 (GRCm39) E249G probably damaging Het
Mroh2b A G 15: 4,977,417 (GRCm39) I1256M probably benign Het
Nkx2-9 G T 12: 56,658,723 (GRCm39) R164S probably benign Het
Or4p20 T A 2: 88,253,694 (GRCm39) N225I probably benign Het
Phf10 T C 17: 15,179,774 (GRCm39) D33G probably null Het
Plekha5 A G 6: 140,523,016 (GRCm39) M719V probably damaging Het
Pln A G 10: 53,219,792 (GRCm39) probably benign Het
Prg4 G A 1: 150,330,852 (GRCm39) probably benign Het
Slc35b3 A G 13: 39,138,112 (GRCm39) L99P probably damaging Het
Tbccd1 AT ATGT 16: 22,652,778 (GRCm39) probably null Het
Ube2j1 C T 4: 33,045,198 (GRCm39) S157L probably damaging Het
Zfp462 A G 4: 55,008,933 (GRCm39) T300A possibly damaging Het
Zfp668 G A 7: 127,466,941 (GRCm39) R212C probably damaging Het
Zup1 A G 10: 33,825,431 (GRCm39) M17T possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- GTGAAAACTTTGGGCTTGGC -3'
(R):5'- TGCGCGCTAAGTCTTAAGG -3'

Sequencing Primer
(F):5'- CTGAAATCCGAGGTTTTGAAAGC -3'
(R):5'- CGCTAAGTCTTAAGGGCGAC -3'
Posted On 2018-07-23