Mutagenetix > Incidental Mutation

Incidental Mutation 'R2211:Hic1'

239395

Institutional Source

Beutler Lab

Gene Symbol

Hic1

Ensembl Gene

ENSMUSG00000043099

Gene Name

hypermethylated in cancer 1

Synonyms

HIC-1

MMRRC Submission

040213-MU

Accession Numbers

Essential gene?

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

Stock #

R2211 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

75164565-75169519 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75169384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 46 (R46W)

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: R46W

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: R46W

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

noncoding transcript
Transcript: ENSMUST00000083603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083656

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: ENSMUST00000134252

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	T	C	8: 3,387,680	S268P	possibly damaging	Het
Adam18	A	G	8: 24,628,155	S34P	probably damaging	Het
Adam23	T	A	1: 63,573,129		probably benign	Het
Adcy10	A	T	1: 165,518,212	I277F	probably damaging	Het
Arfgef3	A	T	10: 18,592,245	S1736T	possibly damaging	Het
Arhgap21	A	T	2: 20,881,640	M242K	possibly damaging	Het
Astn1	A	G	1: 158,657,306	R4G	probably benign	Het
AU041133	G	A	10: 82,150,921	C135Y	probably damaging	Het
Cdc42bpb	A	G	12: 111,301,854	V53A	probably benign	Het
Cdh23	T	C	10: 60,466,004	D428G	possibly damaging	Het
Cebpa	T	C	7: 35,120,466	S350P	probably damaging	Het
Cftr	A	G	6: 18,214,280	M152V	probably null	Het
Cpa4	A	G	6: 30,583,650	N255S	possibly damaging	Het
Ddx51	T	A	5: 110,655,768	D343E	probably damaging	Het
Dnah7a	T	C	1: 53,479,773	I2942V	probably benign	Het
Dnajc1	G	T	2: 18,392,475	A9E	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Edem3	A	G	1: 151,804,702	D526G	possibly damaging	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Etaa1	G	A	11: 17,952,686	Q84*	probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam149a	G	A	8: 45,341,009	T674I	probably damaging	Het
Fam98a	A	G	17: 75,538,945		probably null	Het
Fat4	A	G	3: 38,891,527	N1523S	possibly damaging	Het
Fbxw10	A	G	11: 62,867,535	T529A	probably damaging	Het
Gzf1	C	T	2: 148,684,950	A447V	probably damaging	Het
Hap1	G	A	11: 100,354,724	T138M	probably benign	Het
Id4	T	A	13: 48,261,802	L102Q	probably damaging	Het
Il3ra	T	C	14: 14,355,029	C271R	probably benign	Het
Ints4	T	C	7: 97,509,750	I443T	possibly damaging	Het
Lmln	A	G	16: 33,109,778	E535G	probably benign	Het
Lrrtm4	A	G	6: 80,022,640	H345R	probably benign	Het
Ltbp3	T	C	19: 5,753,962	I834T	possibly damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Mpp5	A	T	12: 78,797,248	K75N	possibly damaging	Het
Ms4a18	C	A	19: 10,997,305	V341L	probably benign	Het
Nbr1	T	C	11: 101,567,264		probably null	Het
Nf1	T	C	11: 79,444,064	M914T	probably benign	Het
Notch3	T	A	17: 32,147,978	H861L	probably benign	Het
Nupl1	A	G	14: 60,232,640	F341L	probably damaging	Het
Ogfod2	C	A	5: 124,112,780		probably null	Het
Oit3	T	C	10: 59,428,070	D414G	probably damaging	Het
Olfr1079	T	C	2: 86,538,513	Y132C	probably damaging	Het
Olfr1497	T	A	19: 13,795,369	M81L	probably benign	Het
Olfr787	A	T	10: 129,462,940	K88M	probably damaging	Het
Olfr804	A	G	10: 129,705,451	H191R	probably benign	Het
Pcbp4	C	A	9: 106,460,734	H74Q	probably benign	Het
Pip5k1b	A	T	19: 24,378,850	D241E	probably damaging	Het
Plcb2	T	C	2: 118,723,534	D102G	probably benign	Het
Plekha5	G	A	6: 140,525,861	E4K	possibly damaging	Het
Ppargc1a	A	C	5: 51,474,259	S343A	possibly damaging	Het
Ppwd1	G	A	13: 104,207,142	S585L	probably benign	Het
Rarg	T	C	15: 102,239,524	N284S	probably benign	Het
Rnpepl1	C	T	1: 92,916,380	L278F	probably damaging	Het
Rp1	A	C	1: 4,348,139	S917A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGAGGGTGGCG	7: 97,579,904		probably benign	Het
Rsph3b	T	C	17: 6,941,740	S189G	probably benign	Het
Sec31b	A	T	19: 44,523,150	L604Q	probably damaging	Het
Sema6b	T	A	17: 56,124,741	I641F	probably benign	Het
Slc35f5	A	T	1: 125,579,264	I309F	possibly damaging	Het
Smarca4	A	G	9: 21,686,029	E1360G	probably damaging	Het
Spata31d1c	T	C	13: 65,035,939	S432P	probably benign	Het
Spsb3	T	C	17: 24,890,937		probably null	Het
Sptbn4	T	C	7: 27,367,609	D1960G	probably damaging	Het
Srgap1	A	G	10: 121,853,740	V345A	possibly damaging	Het
Tiam2	C	A	17: 3,414,918	C307*	probably null	Het
Trim43b	T	A	9: 89,085,249	T444S	possibly damaging	Het
Trmt13	A	G	3: 116,594,754	I11T	probably benign	Het
Ylpm1	A	T	12: 85,044,378	R1073*	probably null	Het
Zfp524	T	C	7: 5,017,919	S149P	probably damaging	Het
Zfp777	T	C	6: 48,043,885	I312V	possibly damaging	Het

Other mutations in Hic1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01110:Hic1	APN	11	75165519	missense	possibly damaging	0.96
cough	UTSW	11	75166317	missense	possibly damaging	0.93
Cup	UTSW	11	75167374	missense	probably damaging	0.97
Undulate	UTSW	11	75166216	missense	possibly damaging	0.96
R0138:Hic1	UTSW	11	75167343	missense	probably damaging	0.99
R0331:Hic1	UTSW	11	75165490	missense	possibly damaging	0.53
R0491:Hic1	UTSW	11	75166310	missense	possibly damaging	0.86
R0521:Hic1	UTSW	11	75166887	missense	possibly damaging	0.68
R0744:Hic1	UTSW	11	75165801	missense	possibly damaging	0.52
R1766:Hic1	UTSW	11	75165794	nonsense	probably null
R2070:Hic1	UTSW	11	75169059	missense	possibly damaging	0.68
R5418:Hic1	UTSW	11	75166599	splice site	probably null
R6047:Hic1	UTSW	11	75166849	missense	possibly damaging	0.94
R6076:Hic1	UTSW	11	75167328	missense	probably damaging	1.00
R6415:Hic1	UTSW	11	75166317	missense	possibly damaging	0.93
R6633:Hic1	UTSW	11	75169498	missense	unknown
R7122:Hic1	UTSW	11	75169230	missense	probably benign
R7308:Hic1	UTSW	11	75167151	missense	probably damaging	1.00
R7761:Hic1	UTSW	11	75167374	missense	probably damaging	0.97
R7778:Hic1	UTSW	11	75166216	missense	possibly damaging	0.96
R7824:Hic1	UTSW	11	75166216	missense	possibly damaging	0.96
R8230:Hic1	UTSW	11	75165585	missense	possibly damaging	0.85
R8419:Hic1	UTSW	11	75166270	missense	possibly damaging	0.96
R8752:Hic1	UTSW	11	75169380	missense	probably benign	0.00
R8832:Hic1	UTSW	11	75166902	missense	possibly damaging	0.86
R8857:Hic1	UTSW	11	75165402	missense	probably benign	0.33
R9068:Hic1	UTSW	11	75169506	missense	unknown
R9157:Hic1	UTSW	11	75166227	missense	possibly damaging	0.96
R9497:Hic1	UTSW	11	75169305	missense	possibly damaging	0.92
R9594:Hic1	UTSW	11	75165931	missense	possibly damaging	0.71
RF029:Hic1	UTSW	11	75169442	small deletion	probably benign
RF043:Hic1	UTSW	11	75169455	small deletion	probably benign
Z1186:Hic1	UTSW	11	75167526	missense	probably damaging	0.99
Z1187:Hic1	UTSW	11	75167526	missense	probably damaging	0.99
Z1188:Hic1	UTSW	11	75167526	missense	probably damaging	0.99
Z1189:Hic1	UTSW	11	75167526	missense	probably damaging	0.99
Z1190:Hic1	UTSW	11	75167526	missense	probably damaging	0.99
Z1191:Hic1	UTSW	11	75167526	missense	probably damaging	0.99
Z1191:Hic1	UTSW	11	75169448	frame shift	probably null
Z1191:Hic1	UTSW	11	75169449	frame shift	probably null
Z1191:Hic1	UTSW	11	75169450	small deletion	probably benign
Z1192:Hic1	UTSW	11	75167526	missense	probably damaging	0.99
Z1192:Hic1	UTSW	11	75169450	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACTCTTATCTGGAGCGGC -3'
(R):5'- TCGTAGTGTTCCACCCCAAC -3'

Sequencing Primer
(F):5'- TTATCTGGAGCGGCCCGAAC -3'
(R):5'- CATCCCTGGCTTAAGAGT -3'

Posted On

2014-10-15