Incidental Mutation 'IGL02310:Hic2'
ID287770
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: 0.783) question?
Stock #IGL02310
Quality Score
Status
Chromosome16
Chromosomal Location17233572-17263430 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 17257757 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 150 (R150Q)
Ref Sequence ENSEMBL: ENSMUSP00000156293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090190] [ENSMUST00000115698] [ENSMUST00000232082]
Predicted Effect probably damaging
Transcript: ENSMUST00000090190
AA Change: R150Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087656
Gene: ENSMUSG00000050240
AA Change: R150Q

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 damaging
Transcript: ENSMUST00000115698
AA Change: R150Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111362
Gene: ENSMUSG00000050240
AA Change: R150Q

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 damaging
Transcript: ENSMUST00000232082
AA Change: R150Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A G 9: 22,424,428 Y114C probably benign Het
Ano4 T A 10: 89,023,878 K382* probably null Het
Bcl9l A G 9: 44,509,305 Y1299C probably damaging Het
Best1 T A 19: 9,989,152 H357L probably benign Het
Cdc26 T C 4: 62,395,029 probably benign Het
Esyt2 C T 12: 116,365,921 L700F probably benign Het
Fkbp15 T C 4: 62,340,316 Y138C probably damaging Het
Gbp6 T C 5: 105,290,975 N16D probably benign Het
Gm44805 A G 7: 19,671,763 *98Q probably null Het
Hecw2 T C 1: 53,923,916 D812G probably null Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Klhl36 T A 8: 119,869,617 probably null Het
Mug2 C T 6: 122,059,123 probably benign Het
Olfr1410 T C 1: 92,608,065 V76A possibly damaging Het
Pdcl2 A T 5: 76,317,881 I116N probably damaging Het
Pkn2 A G 3: 142,811,580 I482T probably damaging Het
Prss53 T G 7: 127,886,614 D518A probably benign Het
Psme4 A G 11: 30,837,484 D1093G probably benign Het
Tmcc2 A T 1: 132,358,907 I602N probably damaging Het
Tmem55b T C 14: 50,929,210 T187A possibly damaging Het
Ttn C T 2: 76,788,691 V16115I possibly damaging Het
Zbtb21 G T 16: 97,951,790 T459K possibly damaging Het
Other mutations in Hic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01821:Hic2 APN 16 17257831 missense probably benign 0.00
IGL02021:Hic2 APN 16 17258753 missense probably benign 0.01
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 On2015-04-16