Incidental Mutation 'R3154:Zic3'
ID263440
Institutional Source Beutler Lab
Gene Symbol Zic3
Ensembl Gene ENSMUSG00000067860
Gene Namezinc finger protein of the cerebellum 3
SynonymsKa
MMRRC Submission 040605-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R3154 (G1)
Quality Score129
Status Not validated
ChromosomeX
Chromosomal Location58022700-58041736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 58031478 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 100 (V100M)
Ref Sequence ENSEMBL: ENSMUSP00000086001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088627] [ENSMUST00000088629] [ENSMUST00000088631] [ENSMUST00000137687]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088627
AA Change: V100M

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085999
Gene: ENSMUSG00000067860
AA Change: V100M

DomainStartEndE-ValueType
low complexity region 123 134 N/A INTRINSIC
ZnF_C2H2 260 285 6.82e1 SMART
ZnF_C2H2 294 321 6.24e0 SMART
ZnF_C2H2 327 351 2.12e-4 SMART
ZnF_C2H2 357 381 1.58e-3 SMART
ZnF_C2H2 387 409 4.94e-5 SMART
low complexity region 410 427 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000088629
AA Change: V100M

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086001
Gene: ENSMUSG00000067860
AA Change: V100M

DomainStartEndE-ValueType
low complexity region 123 134 N/A INTRINSIC
ZnF_C2H2 260 285 6.82e1 SMART
ZnF_C2H2 294 321 6.24e0 SMART
ZnF_C2H2 327 351 2.12e-4 SMART
ZnF_C2H2 357 381 1.58e-3 SMART
ZnF_C2H2 387 407 1.41e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088631
SMART Domains Protein: ENSMUSP00000086003
Gene: ENSMUSG00000067860

DomainStartEndE-ValueType
ZnF_C2H2 40 65 6.82e1 SMART
ZnF_C2H2 74 101 6.24e0 SMART
ZnF_C2H2 107 131 2.12e-4 SMART
ZnF_C2H2 137 161 1.58e-3 SMART
ZnF_C2H2 167 189 4.94e-5 SMART
low complexity region 190 207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137687
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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 nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants show incomplete penetrance varying by genetic background and allele. Phenotypes range from bent tail/skeletal abnormalities to severe defects in embryo turning, cardiac development and neural tube closure resulting in death at embryonic day 18.5 [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A C 2: 152,440,824 N200H probably damaging Het
Abca17 T A 17: 24,328,746 D218V probably damaging Het
Ap1b1 T C 11: 5,023,135 V326A possibly damaging Het
Bdp1 A T 13: 100,049,814 V1710E probably damaging Het
Chrna3 C T 9: 55,016,050 C158Y probably damaging Het
Cnnm3 T A 1: 36,521,222 S608T probably damaging Het
Cnot1 T C 8: 95,744,278 E1314G possibly damaging Het
Cobll1 A T 2: 65,107,050 M406K probably benign Het
Cyp2d34 T C 15: 82,617,566 K248E probably benign Het
Dcdc2a A C 13: 25,102,357 I125L probably benign Het
Dgat1 G A 15: 76,502,521 L439F probably benign Het
Disc1 T A 8: 125,135,304 S472T probably damaging Het
Dnajb3 C A 1: 88,205,051 V210F probably benign Het
Fancd2 A G 6: 113,593,269 S1394G possibly damaging Het
Fasn A T 11: 120,807,939 L2475Q probably damaging Het
Fn1 A T 1: 71,593,083 C2335S probably damaging Het
Gpld1 T C 13: 24,943,620 S2P unknown Het
Gpld1 G T 13: 24,956,163 probably null Het
Gsc2 G A 16: 17,914,500 R137W probably damaging Het
Gsdme T C 6: 50,251,363 R42G probably damaging Het
Gtf3c5 T C 2: 28,579,536 T119A probably damaging Het
Hs6st3 T C 14: 119,868,977 S266P probably damaging Het
Htr2a T C 14: 74,705,822 F281L probably benign Het
Hus1b T C 13: 30,947,253 K141R probably benign Het
Ireb2 T C 9: 54,885,946 probably null Het
Klhdc7a T A 4: 139,965,713 Y641F probably benign Het
Kri1 T C 9: 21,281,894 E57G possibly damaging Het
Map4 A G 9: 109,999,792 T82A probably benign Het
Mthfr T G 4: 148,051,604 M353R probably benign Het
Mtus2 A G 5: 148,303,273 probably benign Het
Muc5ac T A 7: 141,792,736 probably null Het
Myo15 T A 11: 60,479,360 probably null Het
Nynrin A T 14: 55,863,587 Q278L possibly damaging Het
Pced1b T G 15: 97,384,542 probably null Het
Penk T C 4: 4,134,152 D165G probably damaging Het
Pfkm T A 15: 98,118,209 V90D probably damaging Het
Pgk2 T A 17: 40,208,243 D98V probably damaging Het
Psg28 C A 7: 18,426,423 A283S possibly damaging Het
Rgl3 A G 9: 21,980,774 L338P probably damaging Het
Rnf126 A T 10: 79,761,631 I149N probably damaging Het
Ros1 T C 10: 52,050,981 H2181R probably benign Het
Slc38a11 C T 2: 65,330,335 C305Y probably damaging Het
Speg T A 1: 75,401,542 V798E probably damaging Het
Spesp1 G A 9: 62,282,094 probably benign Het
Styk1 A T 6: 131,310,012 Y84* probably null Het
Syt2 T C 1: 134,741,861 L80P possibly damaging Het
Tra2a C T 6: 49,245,512 probably benign Het
Trim10 T A 17: 36,871,688 C149S probably damaging Het
Vmn2r38 T C 7: 9,094,690 T135A probably benign Het
Wipf1 A G 2: 73,437,490 V188A possibly damaging Het
Yipf2 G A 9: 21,589,901 A67V probably benign Het
Zfp759 A G 13: 67,138,655 E96G probably benign Het
Other mutations in Zic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Zic3 APN X 58034419 missense probably damaging 1.00
IGL01685:Zic3 APN X 58031728 missense probably benign 0.35
IGL02151:Zic3 APN X 58031539 intron probably null
Predicted Primers PCR Primer
(F):5'- CTGCAGGCATGGGATTGAATC -3'
(R):5'- ATGGACCTGGTTGTTGTCCAC -3'

Sequencing Primer
(F):5'- TCACGATCTGTCTTCGGG -3'
(R):5'- GTTGTCCACGTGCCCTGTG -3'
Posted On2015-02-05