Incidental Mutation 'R4021:Zic4'
ID313245
Institutional Source Beutler Lab
Gene Symbol Zic4
Ensembl Gene ENSMUSG00000036972
Gene Namezinc finger protein of the cerebellum 4
Synonyms
MMRRC Submission 040955-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.209) question?
Stock #R4021 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location91362413-91389348 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 91379036 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 108 (T108A)
Ref Sequence ENSEMBL: ENSMUSP00000134364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066384] [ENSMUST00000172646] [ENSMUST00000173054] [ENSMUST00000173342] [ENSMUST00000173933] [ENSMUST00000174212]
Predicted Effect probably benign
Transcript: ENSMUST00000066384
AA Change: T115A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069568
Gene: ENSMUSG00000036972
AA Change: T115A

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 benign
Transcript: ENSMUST00000172646
AA Change: T108A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134053
Gene: ENSMUSG00000036972
AA Change: T108A

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
AA Change: T108A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134364
Gene: ENSMUSG00000036972
AA Change: T108A

DomainStartEndE-ValueType
PDB:2EJ4|A 122 181 3e-16 PDB
Blast:ZnF_C2H2 128 151 5e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173342
Predicted Effect probably benign
Transcript: ENSMUST00000173933
AA Change: T108A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133958
Gene: ENSMUSG00000036972
AA Change: T108A

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 probably benign
Transcript: ENSMUST00000174212
AA Change: T108A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133808
Gene: ENSMUSG00000036972
AA Change: T108A

DomainStartEndE-ValueType
PDB:2EJ4|A 122 158 3e-9 PDB
Blast:ZnF_C2H2 128 158 3e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174611
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195215
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.2%
Validation Efficiency 100% (65/65)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008P02Rik A G 3: 6,620,088 L102P probably benign Het
Adcy4 C T 14: 55,775,178 probably null Het
Adgrf5 A T 17: 43,430,714 probably benign Het
Atp11a A G 8: 12,842,938 K643R probably benign Het
Cacna2d2 C T 9: 107,514,058 T428M probably damaging Het
Cdh22 T C 2: 165,143,673 D331G possibly damaging Het
Chmp3 T C 6: 71,574,238 probably null Het
Csnk2a1 C T 2: 152,258,689 T127M probably damaging Het
Cyp2c55 T A 19: 39,035,434 probably null Het
Ddias G T 7: 92,861,478 D105E possibly damaging Het
Dnajb11 A G 16: 22,869,446 D238G probably damaging Het
Dock7 T C 4: 99,003,920 probably null Het
Dock9 T C 14: 121,626,912 K761E possibly damaging Het
Entpd7 G A 19: 43,691,158 R50Q probably benign Het
Fam107b G A 2: 3,778,474 R238Q probably damaging Het
Fam186a G C 15: 99,941,799 T2188S possibly damaging Het
Farsa A G 8: 84,868,870 T465A probably damaging Het
Fibp T C 19: 5,460,734 probably null Het
Flywch2 G A 17: 23,777,039 T128I possibly damaging Het
Foxi2 A T 7: 135,410,530 D49V probably damaging Het
Fstl5 A G 3: 76,628,975 T31A probably benign Het
Gabbr2 G A 4: 46,846,435 T158I probably damaging Het
Gbp4 T A 5: 105,120,923 R455W probably damaging Het
Gm11492 A G 11: 87,567,280 E160G probably damaging Het
Got2 T G 8: 95,877,753 D69A probably damaging Het
Gpr63 T C 4: 25,008,470 F398S possibly damaging Het
Gtf2h4 T C 17: 35,670,664 M186V probably benign Het
Haus2 A T 2: 120,615,930 Q111L probably damaging Het
Hexdc T C 11: 121,218,161 probably null Het
Igf2r T A 17: 12,748,751 N27I probably damaging Het
Itgax T A 7: 128,133,139 probably null Het
Krit1 T A 5: 3,832,132 I596K probably benign Het
Lair1 A G 7: 4,055,916 probably null Het
Lilra6 G T 7: 3,911,418 T276K probably benign Het
Mast4 G A 13: 102,739,321 R1112* probably null Het
Mrgprb1 A T 7: 48,447,123 I347N possibly damaging Het
Mroh2b T A 15: 4,925,100 C682S possibly damaging Het
Mtif3 T A 5: 146,955,678 R249S possibly damaging Het
Mycbp2 C T 14: 103,152,157 E3406K probably damaging Het
Myo15b A G 11: 115,873,505 H1315R probably benign Het
Nlrp2 A G 7: 5,325,012 F681L probably benign Het
Olfr1157 T A 2: 87,962,722 T57S possibly damaging Het
Olfr703 T A 7: 106,845,019 M136K probably damaging Het
Pear1 T C 3: 87,756,222 N390D possibly damaging Het
Ranbp17 G A 11: 33,479,189 A352V probably benign Het
Rnf17 C T 14: 56,460,001 H451Y probably damaging Het
Sag A T 1: 87,821,305 probably null Het
Slc22a2 T C 17: 12,584,489 L70P probably damaging Het
Slc32a1 C T 2: 158,611,232 probably benign Het
Spag17 A T 3: 100,049,230 I881F probably benign Het
Taar7a G T 10: 23,993,386 N32K probably benign Het
Tbck C A 3: 132,727,134 T435K probably damaging Het
Tril T G 6: 53,819,019 D406A probably damaging Het
Tshz2 G A 2: 169,885,862 D324N probably damaging Het
Vps13d A G 4: 145,075,061 V2349A possibly damaging Het
Wdr6 A G 9: 108,575,206 W493R probably damaging Het
Wdr72 G A 9: 74,151,593 V323I probably benign Het
Zfp488 T A 14: 33,971,153 M18L probably benign Het
Znrf3 T C 11: 5,281,278 D745G possibly damaging Het
Other mutations in Zic4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02423:Zic4 APN 9 91384175 missense probably damaging 1.00
PIT4418001:Zic4 UTSW 9 91379394 missense possibly damaging 0.91
R0628:Zic4 UTSW 9 91384117 nonsense probably null
R0628:Zic4 UTSW 9 91384119 missense probably benign 0.09
R1747:Zic4 UTSW 9 91384146 missense probably damaging 1.00
R2242:Zic4 UTSW 9 91378653 intron probably benign
R3917:Zic4 UTSW 9 91384341 splice site probably benign
R4457:Zic4 UTSW 9 91379262 missense probably damaging 0.97
R4722:Zic4 UTSW 9 91379204 missense probably damaging 1.00
R5135:Zic4 UTSW 9 91384152 missense probably damaging 1.00
R5441:Zic4 UTSW 9 91384200 missense probably damaging 1.00
R5629:Zic4 UTSW 9 91378752 missense probably benign 0.36
R7179:Zic4 UTSW 9 91379121 missense possibly damaging 0.89
R7238:Zic4 UTSW 9 91379397 missense probably benign 0.38
R7801:Zic4 UTSW 9 91384244 missense probably benign 0.03
R7914:Zic4 UTSW 9 91384128 missense probably damaging 1.00
X0018:Zic4 UTSW 9 91378803 missense probably damaging 1.00
Z1177:Zic4 UTSW 9 91378856 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TAGCAGCTGTGGACACCATG -3'
(R):5'- CAAATGTGGTTAGCCTGCTC -3'

Sequencing Primer
(F):5'- TTCACGAGCAGCCTCCTCAG -3'
(R):5'- TGCTCTGGGCCACCGAC -3'
Posted On2015-04-30