Mutagenetix > Incidental Mutation

Incidental Mutation 'R0744:Hic1'

70870

Institutional Source

Beutler Lab

Gene Symbol

Hic1

Ensembl Gene

ENSMUSG00000043099

Gene Name

hypermethylated in cancer 1

Synonyms

HIC-1

MMRRC Submission

038925-MU

Accession Numbers

Essential gene?

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

Stock #

R0744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75055391-75060345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75056627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 754 (Q754L)

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: Q754L

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: Q754L

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

0.2693

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (91/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,931 (GRCm39)	L41P	probably damaging	Het
A930003A15Rik	T	C	16: 19,702,622 (GRCm39)		noncoding transcript	Het
Abca8a	A	T	11: 109,931,390 (GRCm39)	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,376,323 (GRCm39)	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,237,135 (GRCm39)	D92G	possibly damaging	Het
Aebp2	T	G	6: 140,588,090 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,026,283 (GRCm39)	Y6C	probably damaging	Het
Ascc3	T	C	10: 50,721,762 (GRCm39)	W2072R	probably benign	Het
Asxl3	A	G	18: 22,649,097 (GRCm39)	D362G	probably damaging	Het
Baiap2l1	T	A	5: 144,203,451 (GRCm39)	D479V	probably benign	Het
Bdp1	A	T	13: 100,172,333 (GRCm39)	H2094Q	probably benign	Het
Bptf	C	A	11: 107,001,638 (GRCm39)		probably null	Het
Camk4	G	T	18: 33,072,507 (GRCm39)	S20I	unknown	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd209e	G	T	8: 3,903,205 (GRCm39)	D62E	probably benign	Het
Cd226	A	C	18: 89,225,144 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,768,784 (GRCm39)	D605G	probably benign	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
Dmxl1	T	C	18: 49,966,215 (GRCm39)	V20A	probably damaging	Het
Dzip3	A	G	16: 48,780,038 (GRCm39)	Y301H	probably damaging	Het
Ephb4	T	A	5: 137,363,929 (GRCm39)	N600K	probably damaging	Het
Erich6	T	A	3: 58,543,543 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,156,734 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,246,424 (GRCm39)		probably benign	Het
Galnt17	T	A	5: 131,179,754 (GRCm39)	D131V	probably damaging	Het
Gm6619	T	A	6: 131,467,297 (GRCm39)	L54Q	probably damaging	Het
Herc2	T	C	7: 55,855,784 (GRCm39)		probably benign	Het
Hnf4g	A	T	3: 3,716,689 (GRCm39)	D286V	possibly damaging	Het
Iho1	A	T	9: 108,282,000 (GRCm39)	C563S	probably benign	Het
Itgb5	A	G	16: 33,720,953 (GRCm39)	K339R	probably damaging	Het
Itih1	A	T	14: 30,663,512 (GRCm39)	V164E	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Lamp1	T	A	8: 13,222,654 (GRCm39)	F279L	probably damaging	Het
Lrfn5	A	C	12: 61,886,454 (GRCm39)	T81P	probably damaging	Het
Lrrc58	A	G	16: 37,698,935 (GRCm39)		probably benign	Het
Marchf6	T	C	15: 31,480,437 (GRCm39)	Y562C	probably benign	Het
Mark1	T	A	1: 184,653,805 (GRCm39)	I166F	probably damaging	Het
Mark2	A	G	19: 7,263,189 (GRCm39)	Y193H	probably damaging	Het
Mast4	C	G	13: 102,873,895 (GRCm39)	Q1632H	probably damaging	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Mgst3	A	G	1: 167,201,374 (GRCm39)	Y104H	probably damaging	Het
Mlxipl	C	T	5: 135,161,329 (GRCm39)	T416I	possibly damaging	Het
Mthfd2l	T	C	5: 91,094,801 (GRCm39)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Muc1	C	A	3: 89,137,635 (GRCm39)	P159Q	possibly damaging	Het
Myom2	A	T	8: 15,182,924 (GRCm39)	K1454*	probably null	Het
Myt1	TGAGGAGGAGGAGGAGGAGG	TGAGGAGGAGGAGGAGG	2: 181,439,298 (GRCm39)		probably benign	Het
Or10g3b	T	C	14: 52,586,835 (GRCm39)	I223V	probably benign	Het
Or2t29	T	A	11: 58,433,988 (GRCm39)	M105L	possibly damaging	Het
Or52ae9	T	C	7: 103,390,132 (GRCm39)	H105R	probably damaging	Het
Or56b1b	T	C	7: 108,164,205 (GRCm39)	T266A	possibly damaging	Het
Or8b1c	A	T	9: 38,384,081 (GRCm39)	I13F	probably benign	Het
Pdcd6	A	G	13: 74,464,443 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Pramel23	A	T	4: 143,425,056 (GRCm39)	M129K	probably benign	Het
Pzp	A	G	6: 128,493,158 (GRCm39)		probably benign	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapgef3	G	A	15: 97,659,466 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rgs11	T	A	17: 26,422,292 (GRCm39)	M29K	probably damaging	Het
Rictor	A	G	15: 6,793,759 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,372,725 (GRCm39)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,427,050 (GRCm39)	A127T	probably benign	Het
Slc22a28	T	C	19: 8,094,197 (GRCm39)	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,745,300 (GRCm39)	H78L	probably benign	Het
Slc26a1	T	A	5: 108,821,389 (GRCm39)	T167S	probably benign	Het
Slc2a12	T	C	10: 22,577,915 (GRCm39)		probably benign	Het
Slc44a5	T	C	3: 153,971,111 (GRCm39)	S654P	probably damaging	Het
Slc51a	T	A	16: 32,294,667 (GRCm39)	T306S	probably benign	Het
Slc6a13	T	G	6: 121,279,826 (GRCm39)	W67G	probably damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,059,313 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,627,465 (GRCm39)	I86L	probably damaging	Het
Spata31e5	A	G	1: 28,816,902 (GRCm39)	S377P	possibly damaging	Het
Supt20	T	A	3: 54,622,122 (GRCm39)	Y409N	probably damaging	Het
Synrg	C	T	11: 83,915,131 (GRCm39)	Q1046*	probably null	Het
Tab2	T	C	10: 7,783,345 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tex24	A	T	8: 27,834,748 (GRCm39)	H92L	possibly damaging	Het
Tgm6	T	C	2: 129,993,681 (GRCm39)	V640A	probably benign	Het
Tle2	T	C	10: 81,424,781 (GRCm39)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 18,878,697 (GRCm39)	A704S	probably benign	Het
Tomm34	T	C	2: 163,912,896 (GRCm39)	N22D	probably benign	Het
Trabd2b	A	G	4: 114,437,519 (GRCm39)	Q232R	probably benign	Het
Trim62	A	G	4: 128,778,008 (GRCm39)	S16G	probably damaging	Het
Ttc28	T	A	5: 111,378,947 (GRCm39)	I1144N	probably damaging	Het
Unc5a	C	A	13: 55,151,746 (GRCm39)	N56K	possibly damaging	Het
Ush2a	C	T	1: 188,546,603 (GRCm39)		probably benign	Het
Wrn	A	G	8: 33,785,034 (GRCm39)	I446T	possibly damaging	Het
Zbed5	T	A	5: 129,931,113 (GRCm39)	V354E	possibly damaging	Het
Zfp266	G	A	9: 20,411,095 (GRCm39)	H361Y	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
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
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'- CAGTGAATTTAGCCAGCGGGTAGAG -3'
(R):5'- TCCTGCGACAAGAGCTACAAGGAC -3'

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

Posted On

2013-09-30