Mutagenetix > Incidental Mutation

Incidental Mutation 'R1766:Hic1'

194392

Institutional Source

Beutler Lab

Gene Symbol

Hic1

Ensembl Gene

ENSMUSG00000043099

Gene Name

hypermethylated in cancer 1

Synonyms

HIC-1

MMRRC Submission

039798-MU

Accession Numbers

Essential gene?

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

Stock #

R1766 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

75055391-75060345 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 75056620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 756 (C756*)

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 null
Transcript: ENSMUST00000055619
AA Change: C756*

SMART Domains

Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: C756*

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	C	10: 42,330,491 (GRCm39)	T59A	probably benign	Het
Ankrd17	T	A	5: 90,412,656 (GRCm39)	M1223L	possibly damaging	Het
Ankrd24	G	A	10: 81,474,472 (GRCm39)	S68N	probably benign	Het
Arhgap31	A	G	16: 38,445,952 (GRCm39)	I131T	probably damaging	Het
Arhgef10	A	T	8: 15,029,836 (GRCm39)	I874F	probably damaging	Het
Arl5b	T	C	2: 15,074,648 (GRCm39)	V43A	probably benign	Het
BC051665	G	A	13: 60,932,854 (GRCm39)	H36Y	probably benign	Het
Cdh9	A	G	15: 16,778,392 (GRCm39)	D69G	probably damaging	Het
Chd6	G	A	2: 160,808,559 (GRCm39)	L1552F	probably damaging	Het
Chrd	A	G	16: 20,556,191 (GRCm39)	H584R	probably damaging	Het
Dnhd1	G	A	7: 105,343,179 (GRCm39)	V1508I	possibly damaging	Het
Dpy19l4	C	T	4: 11,303,360 (GRCm39)	G187D	probably damaging	Het
Dync2h1	T	C	9: 7,015,526 (GRCm39)		probably null	Het
Ehbp1l1	A	G	19: 5,766,434 (GRCm39)	V1303A	probably damaging	Het
Eif4e1b	G	A	13: 54,934,704 (GRCm39)	E182K	probably damaging	Het
Fam170b	A	T	14: 32,557,843 (GRCm39)	Q226L	possibly damaging	Het
Fam193a	C	T	5: 34,619,475 (GRCm39)	P760L	probably damaging	Het
Gabra5	A	T	7: 57,157,796 (GRCm39)	L6H	probably benign	Het
Gabrq	G	A	X: 71,876,989 (GRCm39)	R161H	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm7334	T	A	17: 51,006,006 (GRCm39)	D97E	probably damaging	Het
Gpsm1	G	A	2: 26,215,395 (GRCm39)	A286T	probably damaging	Het
Gsta4	C	A	9: 78,111,611 (GRCm39)	Y79*	probably null	Het
Hcn1	T	A	13: 117,793,270 (GRCm39)	V174D	probably benign	Het
Hivep3	C	T	4: 119,953,868 (GRCm39)	T728I	probably benign	Het
Ice1	T	C	13: 70,752,561 (GRCm39)	E1175G	possibly damaging	Het
Igsf3	T	A	3: 101,338,598 (GRCm39)	L304Q	probably damaging	Het
Kpna6	T	C	4: 129,551,235 (GRCm39)	D90G	probably benign	Het
Krt73	C	T	15: 101,702,363 (GRCm39)	G500D	probably damaging	Het
Lama3	A	G	18: 12,535,119 (GRCm39)	K156E	probably damaging	Het
Mdm2	T	C	10: 117,531,927 (GRCm39)	K94E	probably damaging	Het
Mitf	T	C	6: 97,918,060 (GRCm39)	S26P	probably damaging	Het
Myh4	C	A	11: 67,147,121 (GRCm39)	Q1589K	possibly damaging	Het
Nlrp4c	T	A	7: 6,076,113 (GRCm39)	V671E	probably benign	Het
Nop9	C	T	14: 55,989,591 (GRCm39)	A407V	possibly damaging	Het
Nrap	T	A	19: 56,323,474 (GRCm39)	H1366L	probably damaging	Het
Ntrk1	A	T	3: 87,685,825 (GRCm39)	C766S	probably damaging	Het
Oog3	C	T	4: 143,885,692 (GRCm39)	G302D	possibly damaging	Het
Or4q3	T	C	14: 50,583,677 (GRCm39)	Y43C	probably damaging	Het
Or52z15	A	G	7: 103,332,068 (GRCm39)	N38D	possibly damaging	Het
Or6c38	T	C	10: 128,929,616 (GRCm39)	I76V	probably benign	Het
Or7g27	A	G	9: 19,250,154 (GRCm39)	T133A	probably benign	Het
Pdzph1	C	T	17: 59,280,747 (GRCm39)	V512I	probably benign	Het
Phf2	A	C	13: 48,973,033 (GRCm39)	S408A	unknown	Het
Pigk	T	G	3: 152,445,793 (GRCm39)	L135V	probably damaging	Het
Ppp2ca	C	A	11: 52,012,773 (GRCm39)	T301N	probably benign	Het
Ppp4r3a	A	G	12: 101,024,741 (GRCm39)	S253P	probably damaging	Het
Ptgfrn	A	T	3: 100,957,438 (GRCm39)	I712N	probably benign	Het
Rapgef2	A	T	3: 79,000,010 (GRCm39)	D579E	probably damaging	Het
Rims2	T	A	15: 39,325,976 (GRCm39)	D769E	probably damaging	Het
Rptor	T	A	11: 119,615,887 (GRCm39)	C134S	probably damaging	Het
S100a1	A	G	3: 90,418,599 (GRCm39)	F72L	probably damaging	Het
Scube1	T	A	15: 83,606,146 (GRCm39)	D42V	probably damaging	Het
Sh3glb1	T	C	3: 144,418,446 (GRCm39)	D39G	probably damaging	Het
Sh3pxd2a	T	C	19: 47,261,689 (GRCm39)	T397A	probably benign	Het
Siglece	G	A	7: 43,300,956 (GRCm39)	T453M	probably damaging	Het
Slc26a1	G	A	5: 108,819,658 (GRCm39)	R514W	probably damaging	Het
Slc4a8	T	C	15: 100,685,093 (GRCm39)	V156A	probably benign	Het
Smchd1	A	T	17: 71,698,374 (GRCm39)	V1134E	probably damaging	Het
Sorbs2	A	G	8: 46,223,613 (GRCm39)	Y222C	probably damaging	Het
Sorcs3	G	T	19: 48,592,314 (GRCm39)	W326C	possibly damaging	Het
Taf2	A	G	15: 54,934,793 (GRCm39)	V45A	probably benign	Het
Tex16	T	C	X: 111,150,782 (GRCm39)	Y22H	probably benign	Het
Tiparp	A	T	3: 65,439,470 (GRCm39)	H80L	probably damaging	Het
Tmem71	T	A	15: 66,413,548 (GRCm39)	T175S	probably benign	Het
Tmem87b	T	A	2: 128,681,090 (GRCm39)	V338D	probably damaging	Het
Trdn	A	G	10: 33,240,004 (GRCm39)	K445R	probably damaging	Het
Trim14	A	G	4: 46,522,039 (GRCm39)	F213L	probably benign	Het
Tubgcp5	T	A	7: 55,464,768 (GRCm39)	S550T	probably benign	Het
Tufm	A	G	7: 126,089,644 (GRCm39)	D446G	probably benign	Het
Vipr1	A	T	9: 121,490,485 (GRCm39)	Y177F	possibly damaging	Het
Vmn2r116	A	C	17: 23,620,740 (GRCm39)	I825L	probably damaging	Het
Vmn2r12	G	T	5: 109,239,910 (GRCm39)	Q218K	probably damaging	Het
Vwa7	G	T	17: 35,242,919 (GRCm39)		probably null	Het
Ywhae	T	C	11: 75,646,491 (GRCm39)	V119A	probably damaging	Het
Zfand5	A	G	19: 21,257,888 (GRCm39)	R199G	probably damaging	Het
Zfp810	T	C	9: 22,189,828 (GRCm39)	Y360C	possibly damaging	Het
Zrsr2-ps1	A	G	11: 22,923,637 (GRCm39)	D137G	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
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
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'- CAGTGAATTTAGCCAGCGGGTAGAG -3'
(R):5'- TCCTGCGACAAGAGCTACAAGGAC -3'

Sequencing Primer
(F):5'- GTCCTGCTGCTTCAGACTCAG -3'
(R):5'- TGGCTGACAAGGCCCTATC -3'

Posted On

2014-05-23