Incidental Mutation 'IGL01607:Zic2'
ID92308
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 #IGL01607
Quality Score
Status
Chromosome14
Chromosomal Location122475435-122479852 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to G at 122478882 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075888]
Predicted Effect probably benign
Transcript: ENSMUST00000075888
SMART Domains Protein: ENSMUSP00000075283
Gene: ENSMUSG00000061524

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: 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,352,997 K556E possibly damaging Het
Adgre4 A C 17: 55,794,748 probably benign Het
Ajap1 C T 4: 153,432,279 G202S probably damaging Het
Catsperb G T 12: 101,480,726 probably benign Het
Ccdc178 T A 18: 22,067,721 D393V probably benign Het
Cfap74 A G 4: 155,418,986 T95A possibly damaging Het
Dis3l2 A G 1: 86,745,487 T67A probably benign Het
Dnaja3 T C 16: 4,693,395 F205L probably damaging Het
Dsc1 C T 18: 20,089,663 C584Y probably damaging Het
Duox2 C A 2: 122,292,319 V545L probably benign Het
Etaa1 A G 11: 17,953,637 L53P probably benign Het
Gm14184 C T 11: 99,699,664 C4Y unknown Het
Inpp4b C T 8: 82,010,663 A563V probably benign Het
Kcnc3 A G 7: 44,591,304 D140G probably damaging Het
Ly6a A T 15: 74,995,413 M85K probably benign Het
Map4k2 C T 19: 6,345,593 probably null Het
Mttp T C 3: 138,104,698 Y652C probably damaging Het
Neu1 A T 17: 34,934,716 N372I probably benign Het
Nuak2 G A 1: 132,328,140 V184I probably damaging Het
Phf11a T C 14: 59,287,501 I85V probably damaging Het
Polr2e C A 10: 80,039,633 D3Y probably damaging Het
Ralb A G 1: 119,483,549 V20A probably damaging Het
Rln1 A T 19: 29,331,860 V173D probably benign Het
Stk38l T A 6: 146,771,654 C304S probably damaging Het
Stk38l T C 6: 146,772,227 probably benign Het
Tjp1 G T 7: 65,336,178 D288E possibly damaging Het
Trpm3 A G 19: 22,987,127 I1319V probably benign Het
Other mutations in Zic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Zic2 APN 14 122478559 nonsense probably null
IGL02307:Zic2 APN 14 122476634 missense possibly damaging 0.76
IGL02311:Zic2 APN 14 122476194 missense probably damaging 0.99
IGL02561:Zic2 APN 14 122478545 nonsense probably null
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 On2013-12-09