Incidental Mutation 'R7308:Hic1'
ID 567404
Institutional Source Beutler Lab
Gene Symbol Hic1
Ensembl Gene ENSMUSG00000043099
Gene Name hypermethylated in cancer 1
Synonyms HIC-1
MMRRC Submission 045323-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.368) question?
Stock # R7308 (G1)
Quality Score 208.009
Status Not validated
Chromosome 11
Chromosomal Location 75055391-75060345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75057977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 304 (L304P)
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 probably damaging
Transcript: ENSMUST00000055619
AA Change: L304P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: L304P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,022,993 (GRCm39) I43T probably benign Het
Ankar G A 1: 72,690,953 (GRCm39) Q1175* probably null Het
Aqr G A 2: 113,934,543 (GRCm39) A1366V possibly damaging Het
Arhgap45 G A 10: 79,862,392 (GRCm39) probably null Het
Atf7ip T A 6: 136,542,087 (GRCm39) M607K probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTC ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC 3: 95,795,481 (GRCm39) probably benign Het
BC028528 TCACTGGTTCTGTGGTCACTGGTTCTGTGG TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG 3: 95,795,464 (GRCm39) probably benign Het
Bcar3 T A 3: 122,302,142 (GRCm39) V279E probably benign Het
Cd96 C T 16: 45,892,097 (GRCm39) probably null Het
Cdca2 G A 14: 67,932,440 (GRCm39) P488S probably benign Het
Cfhr4 A G 1: 139,682,041 (GRCm39) V185A possibly damaging Het
Col4a2 T G 8: 11,456,856 (GRCm39) probably null Het
Cyp4a12a A G 4: 115,184,955 (GRCm39) R379G possibly damaging Het
Defb34 A G 8: 19,176,395 (GRCm39) S29G probably benign Het
Dnah11 A G 12: 117,959,010 (GRCm39) S2958P probably damaging Het
Dync1h1 A G 12: 110,631,596 (GRCm39) D4431G possibly damaging Het
Egfem1 A T 3: 29,206,015 (GRCm39) H84L probably benign Het
Enah A T 1: 181,733,950 (GRCm39) probably null Het
Fam178b G T 1: 36,698,488 (GRCm39) Q78K probably benign Het
Glb1 A G 9: 114,302,931 (GRCm39) N589S probably damaging Het
Gm1527 C T 3: 28,956,429 (GRCm39) H132Y probably benign Het
Gm5799 A G 14: 43,781,164 (GRCm39) R22G possibly damaging Het
Grip2 T C 6: 91,755,669 (GRCm39) D617G possibly damaging Het
Hax1 A T 3: 89,905,873 (GRCm39) D5E possibly damaging Het
Hmox1 T A 8: 75,823,647 (GRCm39) I105N probably damaging Het
Hormad1 T C 3: 95,469,866 (GRCm39) S38P probably damaging Het
Hspa4 A G 11: 53,157,930 (GRCm39) S558P possibly damaging Het
Kcnf1 T A 12: 17,224,730 (GRCm39) H497L probably benign Het
Kcnma1 C T 14: 23,381,003 (GRCm39) D1022N probably damaging Het
Kcnt1 T C 2: 25,790,475 (GRCm39) F479S possibly damaging Het
Krba1 T C 6: 48,383,273 (GRCm39) V203A probably benign Het
Lct G T 1: 128,246,824 (GRCm39) P233Q probably benign Het
Ly75 T C 2: 60,164,859 (GRCm39) D773G probably benign Het
Malt1 T C 18: 65,582,680 (GRCm39) probably null Het
Man1a2 A T 3: 100,527,421 (GRCm39) L333Q probably damaging Het
Mtus1 T C 8: 41,535,965 (GRCm39) T584A probably benign Het
Myof A T 19: 37,899,359 (GRCm39) S1800R probably damaging Het
Nbea A C 3: 55,998,452 (GRCm39) C118W probably damaging Het
Nsd3 A T 8: 26,130,740 (GRCm39) D35V probably damaging Het
Ntaq1 T C 15: 58,016,006 (GRCm39) V85A possibly damaging Het
Or11g24 G A 14: 50,662,722 (GRCm39) V249I possibly damaging Het
Or2y1c G A 11: 49,360,754 (GRCm39) probably benign Het
Pcnx3 C T 19: 5,736,175 (GRCm39) R217H possibly damaging Het
Pcsk4 G A 10: 80,159,007 (GRCm39) P462L probably benign Het
Pdia5 T G 16: 35,276,879 (GRCm39) K96N probably damaging Het
Pik3c2a T C 7: 115,973,074 (GRCm39) Y707C probably damaging Het
Ppig A T 2: 69,579,806 (GRCm39) N447Y unknown Het
Ppp1r9b T C 11: 94,895,397 (GRCm39) L695P possibly damaging Het
Proser1 C T 3: 53,386,125 (GRCm39) A669V probably benign Het
Rdx A T 9: 51,980,170 (GRCm39) K254N probably damaging Het
Slc35f2 T C 9: 53,705,294 (GRCm39) S95P probably benign Het
Slc4a3 T A 1: 75,534,006 (GRCm39) S1118T probably benign Het
Slf1 G A 13: 77,199,287 (GRCm39) P698L probably benign Het
Sptbn2 A G 19: 4,801,602 (GRCm39) E2338G probably benign Het
Taok3 T A 5: 117,338,216 (GRCm39) Y91* probably null Het
Tbc1d31 C T 15: 57,816,212 (GRCm39) L649F probably damaging Het
Tdpoz8 A G 3: 92,981,872 (GRCm39) T223A probably benign Het
Tmem132b A T 5: 125,864,710 (GRCm39) I939F possibly damaging Het
Trav17 T A 14: 54,044,436 (GRCm39) Y69N probably benign Het
Trmt13 T C 3: 116,388,388 (GRCm39) D16G probably benign Het
Upf2 T A 2: 5,978,329 (GRCm39) Y398N unknown Het
Vmn1r238 T C 18: 3,122,875 (GRCm39) T180A probably benign Het
Zfp738 A T 13: 67,817,672 (GRCm39) I773N probably benign Het
Zscan4e A T 7: 11,041,080 (GRCm39) M264K 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
R0331:Hic1 UTSW 11 75,056,316 (GRCm39) missense possibly damaging 0.53
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
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'- CATATAGCTCAGCGCAGTGG -3'
(R):5'- TGCTAAACCTGGACCATGACATG -3'

Sequencing Primer
(F):5'- CAGCGCAGTGGGTGTTGAC -3'
(R):5'- ATGACATGGTGAGCCCGG -3'
Posted On 2019-06-26