Incidental Mutation 'IGL02561:Zic2'
ID298666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zic2
Ensembl Gene ENSMUSG00000061524
Gene Namezinc finger protein of the cerebellum 2
Synonymsodd-paired homolog, GENA 29, Ku
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.917) question?
Stock #IGL02561
Quality Score
Status
Chromosome14
Chromosomal Location122475435-122479852 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 122478545 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 360 (K360*)
Ref Sequence ENSEMBL: ENSMUSP00000075283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075888]
Predicted Effect probably null
Transcript: ENSMUST00000075888
AA Change: K360*
SMART Domains Protein: ENSMUSP00000075283
Gene: ENSMUSG00000061524
AA Change: K360*

DomainStartEndE-ValueType
low complexity region 18 33 N/A INTRINSIC
low complexity region 81 103 N/A INTRINSIC
low complexity region 131 150 N/A INTRINSIC
low complexity region 215 241 N/A INTRINSIC
ZnF_C2H2 265 290 5.68e1 SMART
ZnF_C2H2 299 326 6.92e0 SMART
ZnF_C2H2 332 356 8.02e-5 SMART
ZnF_C2H2 362 386 1.69e-3 SMART
ZnF_C2H2 392 414 4.54e-4 SMART
low complexity region 416 434 N/A INTRINSIC
low complexity region 455 519 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177306
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 member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]
PHENOTYPE: Defects in neurulation and forebrain development have been identified in both targeted and ENU induced homozygous mutants. Death occurs perinatally in the targeted mouse and during midgestation in the ENU mouse. Mice homozygous for a knock-down allele exhibit cognitive and social behavior defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 104,977,670 Q49L probably benign Het
Aifm2 A G 10: 61,726,007 D44G probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cmya5 T C 13: 93,091,858 T2241A probably benign Het
Cntn4 C T 6: 106,523,509 P316S probably damaging Het
Ctnna2 G T 6: 77,845,580 S13R probably benign Het
Cyb5a G A 18: 84,871,512 G46D probably damaging Het
Daam1 T C 12: 71,946,516 V353A unknown Het
Ddx6 C T 9: 44,634,168 T417I probably damaging Het
Fcgbp C T 7: 28,101,174 probably benign Het
Gdi2 T C 13: 3,548,954 I46T possibly damaging Het
Gm3629 T C 14: 6,590,618 probably benign Het
Grap2 A T 15: 80,647,848 probably benign Het
Gsto2 T C 19: 47,886,190 probably benign Het
Gtf2a1 A T 12: 91,575,753 D57E possibly damaging Het
Hif1a A G 12: 73,942,206 I622M possibly damaging Het
Hmcn1 T C 1: 150,809,726 T328A probably benign Het
Ighv1-54 T C 12: 115,193,769 K86R probably benign Het
Igkv4-55 C T 6: 69,607,376 S84N probably damaging Het
Ilvbl T C 10: 78,577,144 S167P probably benign Het
Kcnn2 A G 18: 45,592,192 I252V possibly damaging Het
Lss T C 10: 76,540,430 probably benign Het
Mlip C A 9: 77,181,351 probably null Het
Ncbp1 C T 4: 46,159,711 T408M possibly damaging Het
Notch4 A G 17: 34,568,160 probably benign Het
Npepps A T 11: 97,229,849 C528* probably null Het
Nxf2 T C X: 134,956,452 T163A probably benign Het
Olfr1224-ps1 T C 2: 89,157,141 I11M possibly damaging Het
Phka1 A T X: 102,598,289 probably benign Het
Ptpn13 T G 5: 103,562,291 L1564R probably damaging Het
Robo3 A G 9: 37,427,091 S343P possibly damaging Het
Smarca2 A G 19: 26,716,182 D1262G possibly damaging Het
Spns1 C T 7: 126,373,769 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ttpal A G 2: 163,607,449 T75A probably damaging Het
Usp34 A G 11: 23,351,652 T359A probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Zic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Zic2 APN 14 122478559 nonsense probably null
IGL01607:Zic2 APN 14 122478882 splice site probably benign
IGL02307:Zic2 APN 14 122476634 missense possibly damaging 0.76
IGL02311:Zic2 APN 14 122476194 missense probably damaging 0.99
IGL02982:Zic2 APN 14 122478567 missense probably damaging 0.98
R0001:Zic2 UTSW 14 122478957 missense probably damaging 0.99
R0027:Zic2 UTSW 14 122476343 missense possibly damaging 0.77
R0136:Zic2 UTSW 14 122476541 missense probably damaging 0.96
R0310:Zic2 UTSW 14 122476364 small deletion probably benign
R0418:Zic2 UTSW 14 122476364 small deletion probably benign
R0420:Zic2 UTSW 14 122476364 small deletion probably benign
R0421:Zic2 UTSW 14 122476364 small deletion probably benign
R0518:Zic2 UTSW 14 122476364 small deletion probably benign
R0520:Zic2 UTSW 14 122476364 small deletion probably benign
R0521:Zic2 UTSW 14 122476364 small deletion probably benign
R0628:Zic2 UTSW 14 122476364 small deletion probably benign
R1733:Zic2 UTSW 14 122478947 missense probably damaging 0.97
R1757:Zic2 UTSW 14 122478619 missense possibly damaging 0.86
R2398:Zic2 UTSW 14 122478917 nonsense probably null
R5323:Zic2 UTSW 14 122476316 missense probably damaging 1.00
R5381:Zic2 UTSW 14 122475815 missense probably damaging 0.97
R6930:Zic2 UTSW 14 122476457 missense probably damaging 0.99
R7223:Zic2 UTSW 14 122476091 missense probably damaging 0.98
Z1088:Zic2 UTSW 14 122478675 missense probably damaging 0.98
Posted On2015-04-16