Incidental Mutation 'IGL01895:Fezf2'
ID179365
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fezf2
Ensembl Gene ENSMUSG00000021743
Gene NameFez family zinc finger 2
SynonymsFezl, Zfp312, forebrain embryonic zinc finger, Fez
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.898) question?
Stock #IGL01895
Quality Score
Status
Chromosome14
Chromosomal Location12342094-12348189 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to T at 12342498 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Arginine at position 456 (*456R)
Ref Sequence ENSEMBL: ENSMUSP00000153090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022262] [ENSMUST00000224023] [ENSMUST00000224714]
Predicted Effect probably null
Transcript: ENSMUST00000022262
AA Change: *456R
SMART Domains Protein: ENSMUSP00000022262
Gene: ENSMUSG00000021743
AA Change: *456R

DomainStartEndE-ValueType
low complexity region 41 55 N/A INTRINSIC
low complexity region 101 120 N/A INTRINSIC
ZnF_C2H2 272 294 1.58e-3 SMART
ZnF_C2H2 300 322 3.39e-3 SMART
ZnF_C2H2 328 350 2.79e-4 SMART
ZnF_C2H2 356 378 2.57e-3 SMART
ZnF_C2H2 384 406 1.45e-2 SMART
ZnF_C2H2 412 435 1.92e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224023
Predicted Effect probably null
Transcript: ENSMUST00000224714
AA Change: *456R
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a null allele show hyperactivity, altered feeding behavior leading to delayed growth and premature death, and impaired formation of subplate neurons and thalamocortical projections. Homozygotes for another allele lack a corpus callosum and show severe subcortical projection defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,229,107 V2279E possibly damaging Het
Abcc6 A T 7: 46,029,058 I56N possibly damaging Het
Akr1c13 A T 13: 4,205,373 E321V possibly damaging Het
Atp8b3 A T 10: 80,521,828 V1119D possibly damaging Het
Cacna1e G T 1: 154,443,900 F1351L probably damaging Het
Cadps2 A G 6: 23,427,275 W585R probably damaging Het
Ccdc113 C T 8: 95,536,458 probably benign Het
Ccer1 A T 10: 97,694,050 I192F unknown Het
Chd8 T C 14: 52,199,094 N90S probably benign Het
Clca3a1 A T 3: 144,747,572 C463* probably null Het
Cyp2c65 T A 19: 39,072,232 C179S possibly damaging Het
Dennd4b A G 3: 90,275,567 Q35R probably benign Het
Enpep T C 3: 129,270,334 E928G possibly damaging Het
Fem1c T C 18: 46,505,562 T458A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14085 A C 2: 122,525,091 Y588S possibly damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Iqcm T G 8: 75,888,560 L423R probably damaging Het
Kcnc4 C A 3: 107,448,218 V305L probably benign Het
Kif1a G A 1: 93,025,733 T1337I possibly damaging Het
Lpxn A G 19: 12,833,086 D298G probably damaging Het
Lypd8 A G 11: 58,390,220 T203A possibly damaging Het
Mrps28 C T 3: 8,900,059 V107M probably damaging Het
Myo15b A G 11: 115,883,498 E586G possibly damaging Het
Pdzk1 C T 3: 96,869,101 A459V possibly damaging Het
Rbpj A G 5: 53,651,386 D285G probably damaging Het
Rimbp3 T C 16: 17,211,436 L908P probably damaging Het
Samd4b T C 7: 28,401,909 probably null Het
Stau2 C T 1: 16,345,937 G401S probably damaging Het
Trpa1 A T 1: 14,887,643 I697K possibly damaging Het
Ttc17 A C 2: 94,375,146 V285G possibly damaging Het
Unc5b A G 10: 60,767,085 F845S probably damaging Het
Vmn1r19 A T 6: 57,405,260 Q266L probably benign Het
Vmn2r106 T C 17: 20,278,965 N228S probably benign Het
Vps13d A G 4: 145,156,266 F919S possibly damaging Het
Zbtb38 C T 9: 96,688,408 V208I probably benign Het
Zfp990 A T 4: 145,536,857 T142S probably damaging Het
Zfp990 C A 4: 145,536,858 T142N probably damaging Het
Other mutations in Fezf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Fezf2 APN 14 12343705 missense probably benign 0.01
IGL02238:Fezf2 APN 14 12344494 missense probably damaging 0.98
IGL02428:Fezf2 APN 14 12344494 missense probably damaging 0.98
IGL02588:Fezf2 APN 14 12343687 missense probably damaging 1.00
K3955:Fezf2 UTSW 14 12345097 missense probably damaging 1.00
R0266:Fezf2 UTSW 14 12342607 missense probably damaging 1.00
R0281:Fezf2 UTSW 14 12343977 missense probably damaging 1.00
R0849:Fezf2 UTSW 14 12342607 missense probably damaging 1.00
R1061:Fezf2 UTSW 14 12342713 missense probably damaging 1.00
R1107:Fezf2 UTSW 14 12342624 missense probably damaging 1.00
R1326:Fezf2 UTSW 14 12342644 missense probably benign 0.12
R1914:Fezf2 UTSW 14 12343988 missense probably damaging 1.00
R1955:Fezf2 UTSW 14 12342644 missense probably benign 0.12
R1980:Fezf2 UTSW 14 12344405 missense probably benign 0.04
R1981:Fezf2 UTSW 14 12344405 missense probably benign 0.04
R1982:Fezf2 UTSW 14 12344405 missense probably benign 0.04
R1988:Fezf2 UTSW 14 12344350 missense probably damaging 0.98
R4023:Fezf2 UTSW 14 12343986 missense probably damaging 1.00
R4025:Fezf2 UTSW 14 12343986 missense probably damaging 1.00
R4026:Fezf2 UTSW 14 12343986 missense probably damaging 1.00
R5373:Fezf2 UTSW 14 12344803 missense possibly damaging 0.67
R6982:Fezf2 UTSW 14 12343645 missense probably damaging 1.00
R7650:Fezf2 UTSW 14 12342653 missense probably damaging 0.97
R7677:Fezf2 UTSW 14 12344941 missense probably benign 0.38
R7898:Fezf2 UTSW 14 12342701 missense possibly damaging 0.82
R8842:Fezf2 UTSW 14 12345079 missense probably damaging 1.00
Z1177:Fezf2 UTSW 14 12344765 missense probably benign 0.19
Posted On2014-05-07