Incidental Mutation 'R0628:Zic4'
ID 57708
Institutional Source Beutler Lab
Gene Symbol Zic4
Ensembl Gene ENSMUSG00000036972
Gene Name zinc finger protein of the cerebellum 4
Synonyms
MMRRC Submission 038817-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R0628 (G1)
Quality Score 150
Status Validated
Chromosome 9
Chromosomal Location 91247636-91271404 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 91266170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 264 (Y264*)
Ref Sequence ENSEMBL: ENSMUSP00000133958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066384] [ENSMUST00000172646] [ENSMUST00000173054] [ENSMUST00000173933] [ENSMUST00000174212]
AlphaFold Q61467
Predicted Effect probably null
Transcript: ENSMUST00000066384
AA Change: Y271*
SMART Domains Protein: ENSMUSP00000069568
Gene: ENSMUSG00000036972
AA Change: Y271*

DomainStartEndE-ValueType
ZnF_C2H2 135 169 4.74e1 SMART
ZnF_C2H2 178 205 7.68e0 SMART
ZnF_C2H2 211 235 8.02e-5 SMART
ZnF_C2H2 241 265 7.15e-2 SMART
ZnF_C2H2 271 295 3.21e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000085242
SMART Domains Protein: ENSMUSP00000082339
Gene: ENSMUSG00000036972

DomainStartEndE-ValueType
ZnF_C2H2 24 48 7.15e-2 SMART
ZnF_C2H2 54 78 3.21e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170572
Predicted Effect probably null
Transcript: ENSMUST00000172646
AA Change: Y264*
SMART Domains Protein: ENSMUSP00000134053
Gene: ENSMUSG00000036972
AA Change: Y264*

DomainStartEndE-ValueType
ZnF_C2H2 128 162 4.74e1 SMART
ZnF_C2H2 171 198 7.68e0 SMART
ZnF_C2H2 204 228 8.02e-5 SMART
ZnF_C2H2 234 258 7.15e-2 SMART
ZnF_C2H2 264 288 3.21e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172858
SMART Domains Protein: ENSMUSP00000133795
Gene: ENSMUSG00000036972

DomainStartEndE-ValueType
ZnF_C2H2 135 169 4.74e1 SMART
ZnF_C2H2 178 205 7.68e0 SMART
ZnF_C2H2 211 235 8.02e-5 SMART
ZnF_C2H2 241 265 7.15e-2 SMART
ZnF_C2H2 271 295 3.21e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173054
SMART Domains Protein: ENSMUSP00000134364
Gene: ENSMUSG00000036972

DomainStartEndE-ValueType
PDB:2EJ4|A 122 181 3e-16 PDB
Blast:ZnF_C2H2 128 151 5e-9 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000173933
AA Change: Y264*
SMART Domains Protein: ENSMUSP00000133958
Gene: ENSMUSG00000036972
AA Change: Y264*

DomainStartEndE-ValueType
ZnF_C2H2 128 162 4.74e1 SMART
ZnF_C2H2 171 198 7.68e0 SMART
ZnF_C2H2 204 228 8.02e-5 SMART
ZnF_C2H2 234 258 7.15e-2 SMART
ZnF_C2H2 264 288 3.21e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174611
Predicted Effect probably benign
Transcript: ENSMUST00000174212
SMART Domains Protein: ENSMUSP00000133808
Gene: ENSMUSG00000036972

DomainStartEndE-ValueType
PDB:2EJ4|A 122 158 3e-9 PDB
Blast:ZnF_C2H2 128 158 3e-15 BLAST
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 98% (58/59)
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. Members of this family are important during development, and have been associated with X-linked visceral heterotaxy and holoprosencephaly type 5. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 1, a related family member on chromosome 3. Heterozygous deletion of these linked genes is involved in Dandy-Walker malformation, which is a congenital cerebellar malformation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice heterozygous for a knock-out allele exhibit posterior cerebellar hypoplasia and a mild defect in anterior cerebellar foliation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A C 18: 65,440,367 (GRCm39) V809G possibly damaging Het
Bank1 T A 3: 135,772,151 (GRCm39) D493V probably damaging Het
Camk2d T C 3: 126,604,273 (GRCm39) probably benign Het
Ccdc17 T A 4: 116,455,745 (GRCm39) L292H probably damaging Het
Ccdc7b A G 8: 129,837,498 (GRCm39) probably benign Het
Cd34 C A 1: 194,641,525 (GRCm39) T317K probably damaging Het
Col6a5 C G 9: 105,789,649 (GRCm39) probably null Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Copa T C 1: 171,918,592 (GRCm39) probably benign Het
Coq7 T C 7: 118,128,867 (GRCm39) D56G probably damaging Het
Dlg4 C T 11: 69,922,610 (GRCm39) T201I probably damaging Het
Dnah7a T A 1: 53,536,264 (GRCm39) D2593V probably benign Het
Ect2l T A 10: 18,018,788 (GRCm39) E536V probably damaging Het
Emilin3 A G 2: 160,752,799 (GRCm39) probably benign Het
Eml2 T C 7: 18,935,479 (GRCm39) probably benign Het
Fam135b C T 15: 71,320,505 (GRCm39) probably benign Het
Fhip2b T C 14: 70,825,161 (GRCm39) T392A possibly damaging Het
Gart C T 16: 91,430,790 (GRCm39) R424H probably benign Het
Gramd1a A G 7: 30,842,049 (GRCm39) L80P probably damaging Het
Herc1 A G 9: 66,358,163 (GRCm39) K2415E probably benign Het
Ica1 C T 6: 8,644,256 (GRCm39) probably benign Het
Idi2l T A 13: 8,990,958 (GRCm39) probably benign Het
Iyd A T 10: 3,497,127 (GRCm39) M161L probably damaging Het
Kdm5a T C 6: 120,392,200 (GRCm39) L974S probably damaging Het
Kif1a T C 1: 92,947,605 (GRCm39) D1619G probably damaging Het
Lypd8 C T 11: 58,275,499 (GRCm39) T78M probably damaging Het
Marchf10 T A 11: 105,280,986 (GRCm39) H433L probably benign Het
Mbp A G 18: 82,572,742 (GRCm39) Y13C probably damaging Het
Mertk A T 2: 128,580,233 (GRCm39) N229I probably damaging Het
Msrb2 T A 2: 19,398,091 (GRCm39) D116E probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Otoa G A 7: 120,744,873 (GRCm39) probably benign Het
Pclo A G 5: 14,719,552 (GRCm39) T1230A unknown Het
Polrmt T C 10: 79,574,979 (GRCm39) T851A possibly damaging Het
Prpf6 C T 2: 181,277,841 (GRCm39) P401L probably damaging Het
Rasgrp4 A G 7: 28,839,635 (GRCm39) probably benign Het
Rc3h2 A T 2: 37,272,064 (GRCm39) probably benign Het
Reps1 A G 10: 17,996,841 (GRCm39) T588A probably damaging Het
Rtel1 A C 2: 180,993,674 (GRCm39) S782R probably benign Het
Sacm1l A G 9: 123,378,060 (GRCm39) probably benign Het
Skic3 G C 13: 76,298,848 (GRCm39) V1185L possibly damaging Het
Skint5 A T 4: 113,588,266 (GRCm39) L728* probably null Het
Slc9b2 T A 3: 135,029,536 (GRCm39) probably benign Het
Snapc3 A T 4: 83,368,397 (GRCm39) H298L probably benign Het
Tex9 A T 9: 72,399,233 (GRCm39) M1K probably null Het
Trappc13 C T 13: 104,291,424 (GRCm39) probably benign Het
Usp3 C T 9: 66,425,726 (GRCm39) R467H probably benign Het
Vmn2r11 T A 5: 109,195,597 (GRCm39) L576F possibly damaging Het
Wnk4 T C 11: 101,165,849 (GRCm39) F792S probably benign Het
Zfp1007 T C 5: 109,826,442 (GRCm39) probably null Het
Zfp280d T C 9: 72,269,230 (GRCm39) V764A probably benign Het
Zfp69 G A 4: 120,806,622 (GRCm39) Q4* probably null Het
Zfp692 T G 11: 58,200,449 (GRCm39) L206R probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Zscan4b A T 7: 10,635,390 (GRCm39) N284K probably damaging Het
Other mutations in Zic4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02423:Zic4 APN 9 91,266,228 (GRCm39) missense probably damaging 1.00
PIT4418001:Zic4 UTSW 9 91,261,447 (GRCm39) missense possibly damaging 0.91
R0628:Zic4 UTSW 9 91,266,172 (GRCm39) missense probably benign 0.09
R1747:Zic4 UTSW 9 91,266,199 (GRCm39) missense probably damaging 1.00
R2242:Zic4 UTSW 9 91,260,706 (GRCm39) intron probably benign
R3917:Zic4 UTSW 9 91,266,394 (GRCm39) splice site probably benign
R4021:Zic4 UTSW 9 91,261,089 (GRCm39) missense probably benign 0.00
R4457:Zic4 UTSW 9 91,261,315 (GRCm39) missense probably damaging 0.97
R4722:Zic4 UTSW 9 91,261,257 (GRCm39) missense probably damaging 1.00
R5135:Zic4 UTSW 9 91,266,205 (GRCm39) missense probably damaging 1.00
R5441:Zic4 UTSW 9 91,266,253 (GRCm39) missense probably damaging 1.00
R5629:Zic4 UTSW 9 91,260,805 (GRCm39) missense probably benign 0.36
R7179:Zic4 UTSW 9 91,261,174 (GRCm39) missense possibly damaging 0.89
R7238:Zic4 UTSW 9 91,261,450 (GRCm39) missense probably benign 0.38
R7801:Zic4 UTSW 9 91,266,297 (GRCm39) missense probably benign 0.03
R7914:Zic4 UTSW 9 91,266,181 (GRCm39) missense probably damaging 1.00
R9178:Zic4 UTSW 9 91,260,913 (GRCm39) missense possibly damaging 0.87
X0018:Zic4 UTSW 9 91,260,856 (GRCm39) missense probably damaging 1.00
Z1177:Zic4 UTSW 9 91,260,909 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TACTGAGATTGGGACACAGCCCAC -3'
(R):5'- AAAGCAGCAGCCCTGATACTGGAG -3'

Sequencing Primer
(F):5'- ACATCCTACTAACATCTCTGCG -3'
(R):5'- GTCTGTGCCACGCACAAC -3'
Posted On 2013-07-11