Mutagenetix > Incidental Mutation

Incidental Mutation 'R0138:Hic1'

22119

Institutional Source

Beutler Lab

Gene Symbol

Hic1

Ensembl Gene

ENSMUSG00000043099

Gene Name

hypermethylated in cancer 1

Synonyms

HIC-1

MMRRC Submission

038423-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.382) question?

Stock #

R0138 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

75055391-75060345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75058169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 240 (N240S)

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

Domain	Start	End	E-Value	Type
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: N240S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: N240S

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

0.3459

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,098 (GRCm39)	N693K	probably damaging	Het
Adgrl3	T	A	5: 81,841,454 (GRCm39)	V845D	probably damaging	Het
Anxa8	T	A	14: 33,819,896 (GRCm39)	F269Y	probably benign	Het
Anxa8	T	A	14: 33,819,897 (GRCm39)	F295L	possibly damaging	Het
Aox4	C	G	1: 58,268,025 (GRCm39)	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,559,617 (GRCm39)	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843 (GRCm39)		probably benign	Het
Arhgef26	C	T	3: 62,355,680 (GRCm39)	H751Y	probably benign	Het
Asic4	A	T	1: 75,446,331 (GRCm39)	Q291L	possibly damaging	Het
Bap1	T	C	14: 30,978,681 (GRCm39)	Y31H	probably damaging	Het
Brf1	A	T	12: 112,924,759 (GRCm39)	V655D	probably damaging	Het
Cebpz	A	G	17: 79,238,820 (GRCm39)	S663P	probably benign	Het
Ces2h	A	G	8: 105,744,693 (GRCm39)	D357G	probably benign	Het
Cfap36	T	C	11: 29,194,073 (GRCm39)	T90A	probably benign	Het
Ciita	A	T	16: 10,330,134 (GRCm39)	D803V	probably damaging	Het
Clnk	C	A	5: 38,931,951 (GRCm39)		probably benign	Het
Cyp46a1	A	G	12: 108,317,470 (GRCm39)	N158S	probably damaging	Het
Cyp4f13	A	G	17: 33,160,080 (GRCm39)	I98T	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dll3	T	A	7: 28,000,746 (GRCm39)	D103V	possibly damaging	Het
Dnai1	T	A	4: 41,629,814 (GRCm39)	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,111,425 (GRCm39)	T85S	probably benign	Het
Eif4g1	A	T	16: 20,494,095 (GRCm39)	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fn1	T	A	1: 71,663,269 (GRCm39)	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 48,180,104 (GRCm39)	D599G	unknown	Het
Frrs1	T	C	3: 116,675,456 (GRCm39)	V128A	possibly damaging	Het
Gcfc2	G	A	6: 81,926,935 (GRCm39)	D608N	probably damaging	Het
Gm1043	T	C	5: 37,350,317 (GRCm39)		probably benign	Het
Gm5148	T	C	3: 37,768,926 (GRCm39)	E98G	probably benign	Het
Gpr141	T	C	13: 19,936,428 (GRCm39)	I116V	probably benign	Het
Hpx	G	A	7: 105,241,445 (GRCm39)	T322I	probably damaging	Het
Hs3st4	A	T	7: 123,996,416 (GRCm39)	M361L	probably benign	Het
Ifrd1	A	G	12: 40,257,129 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Klk1b21	T	A	7: 43,755,319 (GRCm39)	C173S	probably damaging	Het
Krt25	A	T	11: 99,213,524 (GRCm39)	V65E	probably benign	Het
Lrrc15	A	T	16: 30,092,267 (GRCm39)	D357E	possibly damaging	Het
Lrrd1	T	A	5: 3,901,345 (GRCm39)	V550E	probably benign	Het
Macf1	A	G	4: 123,334,540 (GRCm39)	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,174,281 (GRCm39)		probably benign	Het
Mcm5	T	A	8: 75,847,508 (GRCm39)	V435D	probably damaging	Het
Mctp1	C	T	13: 76,975,831 (GRCm39)	R478C	probably damaging	Het
Med10	T	C	13: 69,959,817 (GRCm39)		probably benign	Het
Mrpl4	T	C	9: 20,919,888 (GRCm39)	Y280H	probably benign	Het
Msrb3	T	C	10: 120,687,892 (GRCm39)	E61G	probably damaging	Het
Myo1c	T	C	11: 75,551,827 (GRCm39)	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,143,204 (GRCm39)	T165S	probably damaging	Het
Myrfl	T	A	10: 116,685,138 (GRCm39)	R81W	probably damaging	Het
Neil1	T	C	9: 57,051,030 (GRCm39)		probably benign	Het
Neto2	A	G	8: 86,367,673 (GRCm39)	I357T	possibly damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,643,607 (GRCm39)	S3P	probably benign	Het
Or52h7	A	T	7: 104,214,210 (GRCm39)	I261L	probably benign	Het
Plce1	T	C	19: 38,512,863 (GRCm39)	I54T	possibly damaging	Het
Prex2	A	T	1: 11,355,267 (GRCm39)		probably benign	Het
Psapl1	T	A	5: 36,361,975 (GRCm39)	V189E	probably damaging	Het
Ptdss2	T	G	7: 140,735,232 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,307,322 (GRCm39)	C661R	probably benign	Het
Rpap1	T	C	2: 119,595,380 (GRCm39)		probably null	Het
Rrp1b	A	G	17: 32,279,426 (GRCm39)	T696A	probably benign	Het
Sacm1l	T	A	9: 123,377,982 (GRCm39)	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,305,260 (GRCm39)	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,183,885 (GRCm39)	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,701,679 (GRCm39)		probably benign	Het
Tpst1	T	A	5: 130,130,627 (GRCm39)	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,818,600 (GRCm39)	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,378,514 (GRCm39)	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,482,596 (GRCm39)	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,487,048 (GRCm39)	T616S	probably damaging	Het
Vps13a	G	A	19: 16,637,863 (GRCm39)	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,326,053 (GRCm39)	M328L	probably benign	Het
Zp2	A	G	7: 119,736,423 (GRCm39)	F340S	probably damaging	Het

Other mutations in Hic1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CGAGTAGCAAGCCTGGATGACG -3'
(R):5'- GCAGACGATGCTGGACACGATG -3'

Sequencing Primer
(F):5'- TTCTTGCACAGAGCCACG -3'
(R):5'- CTGGACACGATGGAGGC -3'

Posted On

2013-04-12