Incidental Mutation 'IGL02021:Hic2'
ID 183951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hic2
Ensembl Gene ENSMUSG00000050240
Gene Name hypermethylated in cancer 2
Synonyms HRG22
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # IGL02021
Quality Score
Status
Chromosome 16
Chromosomal Location 17051451-17081294 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17076617 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JLZ6
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: 3,457,890 (GRCm39) probably benign Het
Adam10 C T 9: 70,651,191 (GRCm39) T72I possibly damaging Het
Adam26b T A 8: 43,972,909 (GRCm39) M698L probably benign Het
Ankrd27 A T 7: 35,313,881 (GRCm39) H404L probably damaging Het
Atp1a1 T C 3: 101,501,524 (GRCm39) S60G probably benign Het
Bcat1 T C 6: 144,993,015 (GRCm39) probably benign Het
Cd177 G A 7: 24,444,631 (GRCm39) A650V probably benign Het
Cmya5 T C 13: 93,231,057 (GRCm39) N1344D probably benign Het
Ctsd G T 7: 141,939,213 (GRCm39) L71I probably damaging Het
Dctn2 T C 10: 127,110,926 (GRCm39) probably null Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dennd2b T C 7: 109,156,579 (GRCm39) Y57C probably damaging Het
Duoxa1 A G 2: 122,135,127 (GRCm39) F251S probably benign Het
Fcho1 A C 8: 72,173,919 (GRCm39) S2A probably benign Het
Gm4861 T C 3: 137,257,871 (GRCm39) probably null Het
Gm4922 C A 10: 18,660,225 (GRCm39) G166W probably damaging Het
Hoxa5 C T 6: 52,179,637 (GRCm39) R246K probably damaging Het
Ipo11 A T 13: 106,993,745 (GRCm39) F721I probably damaging Het
Lama1 A T 17: 68,128,621 (GRCm39) S2993C probably damaging Het
Lonp2 T A 8: 87,435,599 (GRCm39) S612T probably benign Het
Lpar5 T G 6: 125,058,955 (GRCm39) Y225* probably null Het
Map4k3 A G 17: 80,917,255 (GRCm39) Y574H probably damaging Het
Msantd4 A G 9: 4,385,163 (GRCm39) E296G probably damaging Het
Ncs1 A G 2: 31,174,177 (GRCm39) D109G probably damaging Het
Nnt T C 13: 119,472,783 (GRCm39) probably benign Het
Nr1h5 T C 3: 102,855,058 (GRCm39) probably benign Het
Or2ag20 A T 7: 106,464,696 (GRCm39) K170* probably null Het
Or4g7 A G 2: 111,309,825 (GRCm39) D232G probably benign Het
Plk4 A G 3: 40,765,143 (GRCm39) D595G probably damaging Het
Rbm17 C A 2: 11,600,249 (GRCm39) probably benign Het
Slc24a3 T A 2: 145,360,836 (GRCm39) I193N probably damaging Het
Stat5a G T 11: 100,774,715 (GRCm39) V759F probably damaging Het
Tgfbi T A 13: 56,779,166 (GRCm39) L463Q probably damaging Het
Tigar G T 6: 127,066,253 (GRCm39) A95E probably damaging Het
Tph1 A G 7: 46,306,421 (GRCm39) I180T possibly damaging Het
Usp22 T A 11: 61,045,325 (GRCm39) Y517F probably damaging Het
Vmn2r105 A C 17: 20,448,157 (GRCm39) I222M possibly damaging Het
Wapl A G 14: 34,444,293 (GRCm39) I582V probably benign Het
Zfp217 A G 2: 169,957,069 (GRCm39) V643A probably benign Het
Other mutations in Hic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01821:Hic2 APN 16 17,075,695 (GRCm39) missense probably benign 0.00
IGL02310:Hic2 APN 16 17,075,621 (GRCm39) missense probably damaging 1.00
IGL03049:Hic2 APN 16 17,075,800 (GRCm39) missense probably benign 0.00
R0256:Hic2 UTSW 16 17,075,377 (GRCm39) missense probably benign 0.00
R1433:Hic2 UTSW 16 17,076,686 (GRCm39) missense probably benign
R1771:Hic2 UTSW 16 17,076,578 (GRCm39) missense probably benign 0.43
R1774:Hic2 UTSW 16 17,076,511 (GRCm39) missense probably damaging 1.00
R1954:Hic2 UTSW 16 17,076,857 (GRCm39) missense probably damaging 1.00
R2207:Hic2 UTSW 16 17,075,324 (GRCm39) missense possibly damaging 0.69
R5027:Hic2 UTSW 16 17,076,611 (GRCm39) missense possibly damaging 0.90
R5344:Hic2 UTSW 16 17,075,712 (GRCm39) missense probably benign 0.21
R7154:Hic2 UTSW 16 17,076,806 (GRCm39) missense possibly damaging 0.88
R7423:Hic2 UTSW 16 17,075,993 (GRCm39) missense probably damaging 1.00
R7593:Hic2 UTSW 16 17,076,979 (GRCm39) missense probably damaging 0.98
R8082:Hic2 UTSW 16 17,076,563 (GRCm39) missense probably damaging 0.98
R8154:Hic2 UTSW 16 17,076,344 (GRCm39) missense probably benign 0.05
R8241:Hic2 UTSW 16 17,076,950 (GRCm39) missense probably damaging 1.00
R8511:Hic2 UTSW 16 17,075,874 (GRCm39) missense possibly damaging 0.84
R9514:Hic2 UTSW 16 17,076,293 (GRCm39) missense possibly damaging 0.69
Posted On 2014-05-07