Mutagenetix > Incidental Mutation

Incidental Mutation 'R0521:Hic1'

48572

Institutional Source

Beutler Lab

Gene Symbol

Hic1

Ensembl Gene

ENSMUSG00000043099

Gene Name

hypermethylated in cancer 1

Synonyms

HIC-1

MMRRC Submission

038714-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

R0521 (G1)

Quality Score

175

Status

Not validated

Chromosome

Chromosomal Location

75055391-75060345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75057713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 392 (P392L)

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

possibly damaging
Transcript: ENSMUST00000055619
AA Change: P392L

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: P392L

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	T	4: 144,182,464 (GRCm39)	S335T	probably damaging	Het
Abcb1b	G	A	5: 8,914,238 (GRCm39)	A1203T	probably damaging	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Agt	C	A	8: 125,283,839 (GRCm39)	E427*	probably null	Het
Angel1	G	A	12: 86,769,681 (GRCm39)	S193F	probably benign	Het
Ankrd16	T	C	2: 11,794,692 (GRCm39)	V359A	probably benign	Het
Ankrd33b	T	C	15: 31,367,432 (GRCm39)	D36G	probably damaging	Het
Ano8	A	T	8: 71,931,902 (GRCm39)	C766S	probably benign	Het
Asic1	C	T	15: 99,596,700 (GRCm39)	R499C	probably damaging	Het
Atpsckmt	T	G	15: 31,606,103 (GRCm39)	S20R	probably benign	Het
Bank1	C	T	3: 135,919,703 (GRCm39)	C364Y	probably damaging	Het
Bmerb1	T	A	16: 13,804,676 (GRCm39)	S8T	possibly damaging	Het
Bpifa5	C	A	2: 154,008,869 (GRCm39)	D223E	probably benign	Het
Capn5	C	T	7: 97,782,089 (GRCm39)	R217Q	probably damaging	Het
Ccm2	G	A	11: 6,540,886 (GRCm39)	S184N	probably damaging	Het
Ces5a	T	A	8: 94,252,286 (GRCm39)	D202V	probably damaging	Het
Clasrp	A	G	7: 19,322,528 (GRCm39)	I284T	probably benign	Het
Cog7	C	A	7: 121,540,392 (GRCm39)		probably null	Het
Col13a1	A	T	10: 61,698,525 (GRCm39)	M512K	unknown	Het
Cps1	A	C	1: 67,254,723 (GRCm39)	D1304A	probably benign	Het
Crhbp	C	A	13: 95,580,403 (GRCm39)		probably null	Het
Ctdspl2	T	A	2: 121,837,368 (GRCm39)	C377*	probably null	Het
Ctsl	G	A	13: 64,513,032 (GRCm39)	L297F	possibly damaging	Het
Ddost	A	G	4: 138,038,046 (GRCm39)	T262A	probably benign	Het
Ddx4	A	T	13: 112,761,313 (GRCm39)		probably null	Het
Ddx54	A	G	5: 120,764,927 (GRCm39)	I769V	probably benign	Het
Dock1	T	A	7: 134,745,507 (GRCm39)	I1463N	probably benign	Het
Dsg3	T	A	18: 20,660,872 (GRCm39)	Y404N	possibly damaging	Het
Epb42	T	A	2: 120,859,631 (GRCm39)	K186*	probably null	Het
Farp2	A	G	1: 93,504,543 (GRCm39)		probably null	Het
Fbxl9	A	T	8: 106,039,425 (GRCm39)	L617Q	probably damaging	Het
Fev	C	A	1: 74,921,692 (GRCm39)	R86L	possibly damaging	Het
Foxb2	G	T	19: 16,849,820 (GRCm39)	C395*	probably null	Het
Foxn3	A	G	12: 99,175,765 (GRCm39)	V261A	probably benign	Het
Fsd1	A	G	17: 56,298,245 (GRCm39)	D190G	probably benign	Het
Gm9930	A	T	10: 9,410,547 (GRCm39)		noncoding transcript	Het
Gsdma2	A	T	11: 98,545,727 (GRCm39)	K260*	probably null	Het
Hdac7	G	A	15: 97,704,380 (GRCm39)	Q497*	probably null	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Ifna6	G	T	4: 88,745,887 (GRCm39)	V79F	probably benign	Het
Il20ra	A	T	10: 19,635,388 (GRCm39)	Q543L	probably damaging	Het
Itk	T	A	11: 46,251,115 (GRCm39)	D163V	probably damaging	Het
Kcnu1	T	G	8: 26,400,916 (GRCm39)	L688R	probably damaging	Het
Kdm5b	T	A	1: 134,545,771 (GRCm39)	S977R	possibly damaging	Het
Kng1	G	A	16: 22,879,232 (GRCm39)	A45T	possibly damaging	Het
Map1a	T	G	2: 121,136,234 (GRCm39)	L2350R	probably damaging	Het
Mdfic	A	G	6: 15,799,755 (GRCm39)	D212G	probably benign	Het
Ms4a1	C	A	19: 11,236,043 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,801,635 (GRCm39)	F1944L	probably damaging	Het
Nbea	A	T	3: 55,915,689 (GRCm39)	W928R	probably damaging	Het
Nfatc2ip	T	G	7: 125,995,751 (GRCm39)	D46A	possibly damaging	Het
Ngly1	C	T	14: 16,290,774 (GRCm38)	Q419*	probably null	Het
Nsd2	T	A	5: 34,000,682 (GRCm39)	N66K	probably damaging	Het
Nsmce4a	T	C	7: 130,138,732 (GRCm39)	H304R	probably damaging	Het
Odad2	G	A	18: 7,222,676 (GRCm39)	P531L	possibly damaging	Het
Or10a2	T	A	7: 106,673,965 (GRCm39)	L310Q	possibly damaging	Het
Or2y11	C	T	11: 49,443,291 (GRCm39)	T239M	probably damaging	Het
Or4a2	T	C	2: 89,248,544 (GRCm39)	Y71C	probably damaging	Het
Or51v8	T	A	7: 103,319,696 (GRCm39)	I181F	possibly damaging	Het
Or7e168	G	A	9: 19,720,156 (GRCm39)	V181I	probably benign	Het
Or8c20	A	C	9: 38,260,499 (GRCm39)	N40T	probably damaging	Het
Or8h9	C	T	2: 86,789,190 (GRCm39)	G204D	probably damaging	Het
Peg3	T	C	7: 6,714,427 (GRCm39)	E265G	probably damaging	Het
Pkd1	A	G	17: 24,814,193 (GRCm39)	S4188G	probably benign	Het
Pramel32	A	T	4: 88,547,559 (GRCm39)	N37K	probably damaging	Het
R3hdm1	G	A	1: 128,121,440 (GRCm39)	V315I	probably benign	Het
Rab24	A	T	13: 55,468,738 (GRCm39)		probably null	Het
Rap1gap2	A	T	11: 74,332,592 (GRCm39)	M71K	probably damaging	Het
Rergl	T	G	6: 139,473,524 (GRCm39)	K42T	probably damaging	Het
Septin5	T	C	16: 18,443,647 (GRCm39)	T92A	probably benign	Het
Setdb1	A	G	3: 95,246,140 (GRCm39)	V595A	probably benign	Het
Slc17a8	A	G	10: 89,412,192 (GRCm39)	S414P	probably benign	Het
Thnsl2	A	T	6: 71,111,243 (GRCm39)	D208E	probably damaging	Het
Tie1	A	C	4: 118,333,343 (GRCm39)	I841R	probably damaging	Het
Tll1	T	G	8: 64,551,505 (GRCm39)	D292A	probably damaging	Het
Tnfaip8l1	A	T	17: 56,478,727 (GRCm39)	T6S	probably damaging	Het
Trim17	T	A	11: 58,859,320 (GRCm39)	V178E	probably damaging	Het
Ttc27	A	T	17: 75,163,544 (GRCm39)	R717S	possibly damaging	Het
Upk2	G	T	9: 44,365,418 (GRCm39)	P50Q	probably damaging	Het
Usp9y	A	T	Y: 1,307,880 (GRCm39)	C2319S	probably benign	Het
Vmn2r100	A	T	17: 19,742,178 (GRCm39)	D184V	probably damaging	Het
Vmn2r9	C	A	5: 108,996,154 (GRCm39)	G165*	probably null	Het
Xkr6	A	T	14: 64,056,871 (GRCm39)	I261F	probably benign	Het
Xpnpep3	T	G	15: 81,311,693 (GRCm39)	I133S	possibly damaging	Het
Yipf1	A	G	4: 107,193,387 (GRCm39)	Y91C	probably benign	Het
Zfp442	T	C	2: 150,253,169 (GRCm39)	D31G	possibly damaging	Het
Zfp628	A	T	7: 4,922,939 (GRCm39)	Q387L	probably damaging	Het
Zfp804a	C	T	2: 82,089,761 (GRCm39)	Q1197*	probably null	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	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
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
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'- CGGACCAGTTCATCGCCATAACTAC -3'
(R):5'- TGTGCAAGAAGCGCCTCAAACG -3'

Sequencing Primer
(F):5'- TGCTTCATCCAGCGGTAGAG -3'
(R):5'- AAGTACTGCCACCTGCG -3'

Posted On

2013-06-12