Incidental Mutation 'R0331:Hic1'
ID 26075
Institutional Source Beutler Lab
Gene Symbol Hic1
Ensembl Gene ENSMUSG00000043099
Gene Name hypermethylated in cancer 1
Synonyms HIC-1
MMRRC Submission 038540-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.368) question?
Stock # R0331 (G1)
Quality Score 165
Status Validated
Chromosome 11
Chromosomal Location 75055391-75060345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75056316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 858 (T858S)
Ref Sequence ENSEMBL: ENSMUSP00000053483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045281] [ENSMUST00000055619]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000045281
SMART Domains Protein: ENSMUSP00000043555
Gene: ENSMUSG00000038290

DomainStartEndE-ValueType
internal_repeat_1 42 99 7.68e-6 PROSPERO
internal_repeat_1 135 188 7.68e-6 PROSPERO
low complexity region 212 227 N/A INTRINSIC
low complexity region 257 271 N/A INTRINSIC
low complexity region 376 390 N/A INTRINSIC
low complexity region 417 426 N/A INTRINSIC
low complexity region 436 453 N/A INTRINSIC
low complexity region 538 549 N/A INTRINSIC
coiled coil region 574 600 N/A INTRINSIC
Pfam:EST1 637 742 1.8e-18 PFAM
Pfam:EST1_DNA_bind 750 1106 1.6e-78 PFAM
coiled coil region 1197 1234 N/A INTRINSIC
PINc 1245 1396 2.85e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000055619
AA Change: T858S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: T858S

DomainStartEndE-ValueType
low complexity region 71 81 N/A INTRINSIC
low complexity region 192 200 N/A INTRINSIC
BTB 207 313 6.94e-24 SMART
low complexity region 318 340 N/A INTRINSIC
low complexity region 350 370 N/A INTRINSIC
Blast:BTB 375 398 1e-7 BLAST
low complexity region 415 437 N/A INTRINSIC
low complexity region 442 453 N/A INTRINSIC
low complexity region 464 486 N/A INTRINSIC
low complexity region 519 542 N/A INTRINSIC
ZnF_C2H2 597 619 1.08e-1 SMART
ZnF_C2H2 667 689 1.18e-2 SMART
ZnF_C2H2 695 717 9.36e-6 SMART
ZnF_C2H2 723 745 4.54e-4 SMART
ZnF_C2H2 751 773 5.21e-4 SMART
low complexity region 774 804 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130145
SMART Domains Protein: ENSMUSP00000120229
Gene: ENSMUSG00000038290

DomainStartEndE-ValueType
coiled coil region 35 61 N/A INTRINSIC
Pfam:EST1 99 204 1.3e-19 PFAM
Pfam:EST1_DNA_bind 212 339 7.3e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153226
Meta Mutation Damage Score 0.0970 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.8%
  • 20x: 91.7%
Validation Efficiency 100% (81/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit varying abnormalities, such as acrania, exencephaly, cleft palate, limb defects, and omphalocele, and die perinatally. Heterozygotes develop tumors, including lymphomas, sarcomas, and epithelial cancers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T A 8: 79,956,021 (GRCm39) T79S probably benign Het
Abtb1 T C 6: 88,817,684 (GRCm39) probably benign Het
Acot12 G A 13: 91,908,183 (GRCm39) probably null Het
Adamts4 T A 1: 171,078,541 (GRCm39) S54T probably benign Het
Adgrl4 T C 3: 151,203,577 (GRCm39) S96P probably benign Het
Aip G T 19: 4,168,247 (GRCm39) T40K probably damaging Het
Anapc4 A G 5: 53,012,984 (GRCm39) probably benign Het
Asz1 A G 6: 18,103,618 (GRCm39) probably benign Het
Atf7ip A G 6: 136,538,161 (GRCm39) T465A possibly damaging Het
Atp11a C T 8: 12,866,953 (GRCm39) Q127* probably null Het
Axin1 A G 17: 26,362,081 (GRCm39) R142G probably damaging Het
Bcat1 T A 6: 144,993,040 (GRCm39) E86V probably benign Het
Brd4 G A 17: 32,421,489 (GRCm39) P749L probably benign Het
C1ra G A 6: 124,496,394 (GRCm39) probably null Het
Capza2 A T 6: 17,665,102 (GRCm39) N237I probably benign Het
Cd2ap A T 17: 43,116,192 (GRCm39) V556E probably benign Het
Cfap65 G A 1: 74,968,460 (GRCm39) P124L probably damaging Het
Cfap65 G T 1: 74,968,461 (GRCm39) P124T probably damaging Het
Cftr T C 6: 18,235,225 (GRCm39) V488A possibly damaging Het
Ckmt1 A T 2: 121,193,337 (GRCm39) probably null Het
Cmya5 T G 13: 93,280,911 (GRCm39) E35A possibly damaging Het
Col7a1 A G 9: 108,796,570 (GRCm39) probably benign Het
Crmp1 C T 5: 37,422,657 (GRCm39) L155F possibly damaging Het
Cyp2d10 T A 15: 82,291,227 (GRCm39) T33S probably benign Het
Dhdh T C 7: 45,137,544 (GRCm39) K48E probably benign Het
Dlst T C 12: 85,165,586 (GRCm39) V103A probably damaging Het
Dohh C T 10: 81,223,646 (GRCm39) T233I probably benign Het
Dvl2 C A 11: 69,897,043 (GRCm39) probably benign Het
Eipr1 C T 12: 28,914,703 (GRCm39) Q286* probably null Het
Enpp6 C A 8: 47,535,484 (GRCm39) T343K probably damaging Het
Fbxw11 T A 11: 32,661,895 (GRCm39) F112I probably damaging Het
Gdpd4 T A 7: 97,622,215 (GRCm39) N231K probably benign Het
Gm6370 A T 5: 146,430,576 (GRCm39) T254S probably benign Het
Hapln4 G T 8: 70,537,159 (GRCm39) Q31H probably damaging Het
Isg20l2 T C 3: 87,839,092 (GRCm39) L101P probably damaging Het
Itga10 T C 3: 96,559,799 (GRCm39) Y485H probably damaging Het
Itgal T A 7: 126,905,853 (GRCm39) probably null Het
Itln1 T C 1: 171,359,117 (GRCm39) N62S probably damaging Het
Kdm4b T C 17: 56,693,289 (GRCm39) probably benign Het
Lct T C 1: 128,226,479 (GRCm39) probably benign Het
Lman2 A T 13: 55,500,829 (GRCm39) H123Q probably damaging Het
Lztr1 T A 16: 17,342,101 (GRCm39) probably benign Het
Myo3b G T 2: 69,925,605 (GRCm39) G24V probably damaging Het
Nacad T A 11: 6,549,441 (GRCm39) Q1250L possibly damaging Het
Ncor2 A T 5: 125,161,981 (GRCm39) M431K unknown Het
Nek9 T A 12: 85,374,149 (GRCm39) probably benign Het
Neu1 C A 17: 35,153,146 (GRCm39) N255K possibly damaging Het
Nf2 T A 11: 4,744,914 (GRCm39) T75S probably benign Het
Nipal4 T A 11: 46,041,040 (GRCm39) D385V probably damaging Het
Olah T A 2: 3,343,511 (GRCm39) N245I probably damaging Het
Or5p54 G T 7: 107,554,077 (GRCm39) L76F probably benign Het
Pag1 T A 3: 9,767,030 (GRCm39) T90S probably benign Het
Pald1 A G 10: 61,176,708 (GRCm39) probably null Het
Parva A G 7: 112,144,005 (GRCm39) M98V probably benign Het
Paxbp1 T A 16: 90,834,255 (GRCm39) D177V possibly damaging Het
Paxip1 A G 5: 27,970,230 (GRCm39) I587T probably damaging Het
Pclo T C 5: 14,730,390 (GRCm39) probably benign Het
Pdgfra T A 5: 75,355,713 (GRCm39) D1074E probably damaging Het
Pef1 A T 4: 130,021,241 (GRCm39) D265V probably damaging Het
Plekhh2 G A 17: 84,893,794 (GRCm39) E870K possibly damaging Het
Plscr4 G A 9: 92,364,695 (GRCm39) G40D probably damaging Het
Psg18 A G 7: 18,087,233 (GRCm39) Y142H probably benign Het
Ptchd3 A T 11: 121,733,017 (GRCm39) M636L probably benign Het
Rab2a A G 4: 8,572,559 (GRCm39) D51G probably benign Het
Rnf139 T A 15: 58,771,755 (GRCm39) D593E probably benign Het
Septin7 A G 9: 25,217,552 (GRCm39) N422S probably benign Het
Shprh T C 10: 11,069,914 (GRCm39) probably benign Het
Slc7a6os A G 8: 106,937,199 (GRCm39) I87T probably damaging Het
Slc7a7 A G 14: 54,615,381 (GRCm39) probably benign Het
Spc24 G T 9: 21,668,609 (GRCm39) N129K possibly damaging Het
Strip2 C T 6: 29,926,559 (GRCm39) T148I probably benign Het
Tmem150c A C 5: 100,234,132 (GRCm39) probably null Het
Trav13-5 A G 14: 54,033,205 (GRCm39) N38S probably benign Het
Ttn G T 2: 76,641,364 (GRCm39) Y11801* probably null Het
Usp37 A T 1: 74,493,223 (GRCm39) L688* probably null Het
Usp38 T C 8: 81,722,469 (GRCm39) I351V probably benign Het
Vav2 T A 2: 27,186,187 (GRCm39) M223L probably benign Het
Wdr36 A G 18: 32,985,968 (GRCm39) I557M possibly damaging Het
Wwc2 A T 8: 48,333,239 (GRCm39) M259K probably benign Het
Znfx1 G A 2: 166,888,898 (GRCm39) S770L probably benign Het
Other mutations in Hic1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Hic1 APN 11 75,056,345 (GRCm39) missense possibly damaging 0.96
cough UTSW 11 75,057,143 (GRCm39) missense possibly damaging 0.93
Cup UTSW 11 75,058,200 (GRCm39) missense probably damaging 0.97
Undulate UTSW 11 75,057,042 (GRCm39) missense possibly damaging 0.96
R0138:Hic1 UTSW 11 75,058,169 (GRCm39) missense probably damaging 0.99
R0491:Hic1 UTSW 11 75,057,136 (GRCm39) missense possibly damaging 0.86
R0521:Hic1 UTSW 11 75,057,713 (GRCm39) missense possibly damaging 0.68
R0744:Hic1 UTSW 11 75,056,627 (GRCm39) missense possibly damaging 0.52
R1766:Hic1 UTSW 11 75,056,620 (GRCm39) nonsense probably null
R2070:Hic1 UTSW 11 75,059,885 (GRCm39) missense possibly damaging 0.68
R2211:Hic1 UTSW 11 75,060,210 (GRCm39) missense possibly damaging 0.59
R5418:Hic1 UTSW 11 75,057,425 (GRCm39) splice site probably null
R6047:Hic1 UTSW 11 75,057,675 (GRCm39) missense possibly damaging 0.94
R6076:Hic1 UTSW 11 75,058,154 (GRCm39) missense probably damaging 1.00
R6415:Hic1 UTSW 11 75,057,143 (GRCm39) missense possibly damaging 0.93
R6633:Hic1 UTSW 11 75,060,324 (GRCm39) missense unknown
R7122:Hic1 UTSW 11 75,060,056 (GRCm39) missense probably benign
R7308:Hic1 UTSW 11 75,057,977 (GRCm39) missense probably damaging 1.00
R7761:Hic1 UTSW 11 75,058,200 (GRCm39) missense probably damaging 0.97
R7778:Hic1 UTSW 11 75,057,042 (GRCm39) missense possibly damaging 0.96
R7824:Hic1 UTSW 11 75,057,042 (GRCm39) missense possibly damaging 0.96
R8230:Hic1 UTSW 11 75,056,411 (GRCm39) missense possibly damaging 0.85
R8419:Hic1 UTSW 11 75,057,096 (GRCm39) missense possibly damaging 0.96
R8752:Hic1 UTSW 11 75,060,206 (GRCm39) missense probably benign 0.00
R8832:Hic1 UTSW 11 75,057,728 (GRCm39) missense possibly damaging 0.86
R8857:Hic1 UTSW 11 75,056,228 (GRCm39) missense probably benign 0.33
R9068:Hic1 UTSW 11 75,060,332 (GRCm39) missense unknown
R9157:Hic1 UTSW 11 75,057,053 (GRCm39) missense possibly damaging 0.96
R9497:Hic1 UTSW 11 75,060,131 (GRCm39) missense possibly damaging 0.92
R9594:Hic1 UTSW 11 75,056,757 (GRCm39) missense possibly damaging 0.71
RF029:Hic1 UTSW 11 75,060,268 (GRCm39) small deletion probably benign
RF043:Hic1 UTSW 11 75,060,281 (GRCm39) small deletion probably benign
Z1186:Hic1 UTSW 11 75,058,352 (GRCm39) missense probably damaging 0.99
Z1187:Hic1 UTSW 11 75,058,352 (GRCm39) missense probably damaging 0.99
Z1188:Hic1 UTSW 11 75,058,352 (GRCm39) missense probably damaging 0.99
Z1189:Hic1 UTSW 11 75,058,352 (GRCm39) missense probably damaging 0.99
Z1190:Hic1 UTSW 11 75,058,352 (GRCm39) missense probably damaging 0.99
Z1191:Hic1 UTSW 11 75,060,275 (GRCm39) frame shift probably null
Z1191:Hic1 UTSW 11 75,060,274 (GRCm39) frame shift probably null
Z1191:Hic1 UTSW 11 75,058,352 (GRCm39) missense probably damaging 0.99
Z1191:Hic1 UTSW 11 75,060,276 (GRCm39) small deletion probably benign
Z1192:Hic1 UTSW 11 75,060,276 (GRCm39) small deletion probably benign
Z1192:Hic1 UTSW 11 75,058,352 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTAAGGCACTAAACAGTGAGGCCAG -3'
(R):5'- AAGTTTGCTCAACAGCGCAACC -3'

Sequencing Primer
(F):5'- CTAAACAGTGAGGCCAGGTGAG -3'
(R):5'- AGATGCACGCTGTAGGTgg -3'
Posted On 2013-04-16