Incidental Mutation 'IGL02021:Hic2'
ID183951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hic2
Ensembl Gene ENSMUSG00000050240
Gene Namehypermethylated in cancer 2
SynonymsHRG22
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.833) question?
Stock #IGL02021
Quality Score
Status
Chromosome16
Chromosomal Location17233572-17263430 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17258753 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 482 (E482G)
Ref Sequence ENSEMBL: ENSMUSP00000156293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090190] [ENSMUST00000115698] [ENSMUST00000232082]
Predicted Effect probably benign
Transcript: ENSMUST00000090190
AA Change: E482G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000087656
Gene: ENSMUSG00000050240
AA Change: E482G

DomainStartEndE-ValueType
BTB 46 143 6.83e-23 SMART
low complexity region 213 240 N/A INTRINSIC
low complexity region 244 266 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
low complexity region 406 423 N/A INTRINSIC
ZnF_C2H2 446 468 2.49e-1 SMART
low complexity region 477 493 N/A INTRINSIC
ZnF_C2H2 509 531 8.47e-4 SMART
ZnF_C2H2 537 559 2.3e-5 SMART
ZnF_C2H2 565 587 1.13e-4 SMART
ZnF_C2H2 593 615 1.69e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115698
AA Change: E482G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000111362
Gene: ENSMUSG00000050240
AA Change: E482G

DomainStartEndE-ValueType
BTB 46 143 6.83e-23 SMART
low complexity region 213 240 N/A INTRINSIC
low complexity region 244 266 N/A INTRINSIC
low complexity region 380 391 N/A INTRINSIC
low complexity region 406 423 N/A INTRINSIC
ZnF_C2H2 446 468 2.49e-1 SMART
low complexity region 477 493 N/A INTRINSIC
ZnF_C2H2 509 531 8.47e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181077
Predicted Effect probably benign
Transcript: ENSMUST00000232082
AA Change: E482G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232426
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene results in embryonic lethality. A subset of mice heterozygous for a knock-out allele exhibit prenatal lethality and cardiac defects including a ventricular septal defect with overriding aortic valve, and thin myocardial and trabecular layers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik G A 12: 3,407,890 probably benign Het
Adam10 C T 9: 70,743,909 T72I possibly damaging Het
Adam26b T A 8: 43,519,872 M698L probably benign Het
Ankrd27 A T 7: 35,614,456 H404L probably damaging Het
Atp1a1 T C 3: 101,594,208 S60G probably benign Het
Bcat1 T C 6: 145,047,289 probably benign Het
Cd177 G A 7: 24,745,206 A650V probably benign Het
Cmya5 T C 13: 93,094,549 N1344D probably benign Het
Ctsd G T 7: 142,385,476 L71I probably damaging Het
Dctn2 T C 10: 127,275,057 probably null Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Duoxa1 A G 2: 122,304,646 F251S probably benign Het
Fcho1 A C 8: 71,721,275 S2A probably benign Het
Gm4861 T C 3: 137,552,110 probably null Het
Gm4922 C A 10: 18,784,477 G166W probably damaging Het
Hoxa5 C T 6: 52,202,657 R246K probably damaging Het
Ipo11 A T 13: 106,857,237 F721I probably damaging Het
Lama1 A T 17: 67,821,626 S2993C probably damaging Het
Lonp2 T A 8: 86,708,971 S612T probably benign Het
Lpar5 T G 6: 125,081,992 Y225* probably null Het
Map4k3 A G 17: 80,609,826 Y574H probably damaging Het
Msantd4 A G 9: 4,385,163 E296G probably damaging Het
Ncs1 A G 2: 31,284,165 D109G probably damaging Het
Nnt T C 13: 119,336,247 probably benign Het
Nr1h5 T C 3: 102,947,742 probably benign Het
Olfr1288 A G 2: 111,479,480 D232G probably benign Het
Olfr704 A T 7: 106,865,489 K170* probably null Het
Plk4 A G 3: 40,810,708 D595G probably damaging Het
Rbm17 C A 2: 11,595,438 probably benign Het
Slc24a3 T A 2: 145,518,916 I193N probably damaging Het
St5 T C 7: 109,557,372 Y57C probably damaging Het
Stat5a G T 11: 100,883,889 V759F probably damaging Het
Tgfbi T A 13: 56,631,353 L463Q probably damaging Het
Tigar G T 6: 127,089,290 A95E probably damaging Het
Tph1 A G 7: 46,656,997 I180T possibly damaging Het
Usp22 T A 11: 61,154,499 Y517F probably damaging Het
Vmn2r105 A C 17: 20,227,895 I222M possibly damaging Het
Wapl A G 14: 34,722,336 I582V probably benign Het
Zfp217 A G 2: 170,115,149 V643A probably benign Het
Other mutations in Hic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01821:Hic2 APN 16 17257831 missense probably benign 0.00
IGL02310:Hic2 APN 16 17257757 missense probably damaging 1.00
IGL03049:Hic2 APN 16 17257936 missense probably benign 0.00
R0256:Hic2 UTSW 16 17257513 missense probably benign 0.00
R1433:Hic2 UTSW 16 17258822 missense probably benign
R1771:Hic2 UTSW 16 17258714 missense probably benign 0.43
R1774:Hic2 UTSW 16 17258647 missense probably damaging 1.00
R1954:Hic2 UTSW 16 17258993 missense probably damaging 1.00
R2207:Hic2 UTSW 16 17257460 missense possibly damaging 0.69
R5027:Hic2 UTSW 16 17258747 missense possibly damaging 0.90
R5344:Hic2 UTSW 16 17257848 missense probably benign 0.21
R7154:Hic2 UTSW 16 17258942 missense possibly damaging 0.88
R7423:Hic2 UTSW 16 17258129 missense probably damaging 1.00
R7593:Hic2 UTSW 16 17259115 missense probably damaging 0.98
Posted On2014-05-07