Incidental Mutation 'IGL02428:Fezf2'
ID292994
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: 0.841) question?
Stock #IGL02428
Quality Score
Status
Chromosome14
Chromosomal Location12342094-12348189 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12344494 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 231 (E231G)
Ref Sequence ENSEMBL: ENSMUSP00000153090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022262] [ENSMUST00000224023] [ENSMUST00000224714]
Predicted Effect probably damaging
Transcript: ENSMUST00000022262
AA Change: E231G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022262
Gene: ENSMUSG00000021743
AA Change: E231G

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 damaging
Transcript: ENSMUST00000224023
AA Change: E231G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000224714
AA Change: E231G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T C 14: 32,388,248 probably benign Het
AB124611 C T 9: 21,528,925 S69L possibly damaging Het
Abca6 G A 11: 110,178,792 A1566V possibly damaging Het
Ahnak A G 19: 9,014,833 I4494V possibly damaging Het
Ascc3 T A 10: 50,845,695 Y2081* probably null Het
Cdc42bpb T C 12: 111,323,127 T423A probably benign Het
Cdh6 T A 15: 13,064,430 I125F possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd2 T C 4: 128,474,816 L1845P possibly damaging Het
Epha4 A G 1: 77,506,748 V208A possibly damaging Het
Fanci A G 7: 79,444,516 probably benign Het
Flnc A G 6: 29,451,485 D1566G probably damaging Het
Gm11565 A G 11: 99,914,985 T68A probably benign Het
Ifng G A 10: 118,445,254 R154H probably damaging Het
Il1r1 G A 1: 40,313,232 E521K possibly damaging Het
Irf3 G T 7: 44,998,739 L9F probably damaging Het
Jade1 T G 3: 41,613,939 I814S probably benign Het
Kcnh1 G A 1: 192,337,543 W365* probably null Het
Kif16b T C 2: 142,672,360 T1209A possibly damaging Het
Mcur1 A T 13: 43,541,727 S324T probably damaging Het
Mgat2 C A 12: 69,184,784 A44E probably benign Het
Mgea5 A T 19: 45,765,501 W645R probably damaging Het
Nox1 A G X: 134,107,834 probably benign Het
Olfr608 A T 7: 103,470,383 I115F probably benign Het
Olfr993 A G 2: 85,414,193 S229P probably benign Het
Pcnt A T 10: 76,429,256 I340N probably damaging Het
Pde11a T C 2: 76,046,845 E760G possibly damaging Het
Per3 C T 4: 151,018,217 probably null Het
Rabep1 G A 11: 70,917,480 A421T probably benign Het
Rint1 C T 5: 23,794,452 Q80* probably null Het
Rnaset2b G A 17: 6,981,169 probably null Het
Sccpdh T C 1: 179,680,505 Y237H probably benign Het
Scn10a T A 9: 119,691,562 T91S probably damaging Het
Spock1 A G 13: 57,444,432 probably benign Het
Stat1 A G 1: 52,142,966 probably benign Het
Svil A G 18: 5,118,203 E2212G probably damaging Het
Taok1 T A 11: 77,549,277 R635W probably benign Het
Vmn1r39 A G 6: 66,804,962 I124T probably benign Het
Vmn2r32 T C 7: 7,474,284 I369M probably benign Het
Other mutations in Fezf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01895:Fezf2 APN 14 12342498 makesense probably null
IGL02008:Fezf2 APN 14 12343705 missense probably benign 0.01
IGL02238: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
R7981:Fezf2 UTSW 14 12342701 missense possibly damaging 0.82
Posted On2015-04-16