Mutagenetix > Incidental Mutation

Incidental Mutation 'R8832:Hic1'

673932

Institutional Source

Beutler Lab

Gene Symbol

Hic1

Ensembl Gene

ENSMUSG00000043099

Gene Name

hypermethylated in cancer 1

Synonyms

HIC-1

MMRRC Submission

068660-MU

Accession Numbers

Essential gene?

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

Stock #

R8832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75055391-75060345 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75057728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 387 (A387V)

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: A387V

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053483
Gene: ENSMUSG00000043099
AA Change: A387V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (81/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,100,341 (GRCm39)	E238V	probably damaging	Het
Adh6b	T	C	3: 138,055,463 (GRCm39)	V71A	probably benign	Het
Agmat	G	A	4: 141,474,320 (GRCm39)	R67H	probably benign	Het
AI182371	T	C	2: 34,985,909 (GRCm39)	D49G	unknown	Het
Ak7	A	G	12: 105,708,598 (GRCm39)	N351S	possibly damaging	Het
Aldh3b1	G	T	19: 3,964,025 (GRCm39)	R426S	probably damaging	Het
Aldh4a1	A	G	4: 139,371,466 (GRCm39)	D460G	probably benign	Het
Aox4	A	T	1: 58,294,649 (GRCm39)	M953L	probably benign	Het
Arhgap32	C	T	9: 32,172,115 (GRCm39)	P1632S	possibly damaging	Het
Armh1	A	G	4: 117,094,867 (GRCm39)	F58L	probably damaging	Het
Baz1b	C	T	5: 135,246,230 (GRCm39)	R560W	possibly damaging	Het
Bbs10	C	T	10: 111,136,266 (GRCm39)	Q460*	probably null	Het
BC034090	A	C	1: 155,102,034 (GRCm39)	S77A	probably damaging	Het
Bltp2	A	G	11: 78,158,064 (GRCm39)	K409E	probably benign	Het
Brca2	A	G	5: 150,465,611 (GRCm39)	K1792E	possibly damaging	Het
Cadps2	A	T	6: 23,587,536 (GRCm39)	L318Q	possibly damaging	Het
Catsperg2	A	G	7: 29,397,269 (GRCm39)	V1078A	probably benign	Het
Ccno	A	G	13: 113,126,239 (GRCm39)	N236S	probably benign	Het
Chct1	A	G	11: 85,062,037 (GRCm39)	D12G	probably damaging	Het
Cobll1	A	T	2: 64,929,602 (GRCm39)	S575T	probably damaging	Het
Col6a4	A	G	9: 105,949,353 (GRCm39)	Y761H	probably benign	Het
Cyp2j9	G	T	4: 96,474,121 (GRCm39)	H106Q	probably benign	Het
Dennd2c	T	A	3: 103,059,720 (GRCm39)		probably null	Het
Drd5	G	A	5: 38,477,078 (GRCm39)	V24M	probably benign	Het
Dthd1	T	C	5: 62,971,608 (GRCm39)	S144P	probably benign	Het
Fcna	C	A	2: 25,516,145 (GRCm39)	R124L	possibly damaging	Het
Fmnl2	A	G	2: 52,944,584 (GRCm39)	S188G		Het
Ggt1	A	T	10: 75,410,173 (GRCm39)	H35L	possibly damaging	Het
Gphn	A	T	12: 78,459,174 (GRCm39)		silent	Het
Hycc2	A	T	1: 58,587,832 (GRCm39)	I127N	possibly damaging	Het
Igf1r	T	A	7: 67,875,769 (GRCm39)	F1244I	probably damaging	Het
Kcnk7	T	C	19: 5,754,736 (GRCm39)	V78A	probably damaging	Het
Kit	A	G	5: 75,799,791 (GRCm39)	N508D	probably benign	Het
Klk1b22	A	T	7: 43,764,277 (GRCm39)	E68D	probably benign	Het
Klra4	C	T	6: 130,021,019 (GRCm39)	D259N	probably benign	Het
Krtap2-4	A	T	11: 99,505,246 (GRCm39)	C122S	unknown	Het
Map3k1	T	G	13: 111,889,015 (GRCm39)	H1314P	possibly damaging	Het
Mast2	C	T	4: 116,168,875 (GRCm39)		probably null	Het
Mfsd2a	A	G	4: 122,843,102 (GRCm39)	V393A	probably benign	Het
Myh7b	T	A	2: 155,475,182 (GRCm39)	V1858E	probably benign	Het
Myo1c	G	A	11: 75,561,072 (GRCm39)	V793I	probably benign	Het
Myt1l	T	A	12: 29,970,351 (GRCm39)	N1145K	unknown	Het
Nckap1l	T	A	15: 103,387,242 (GRCm39)	S706T	probably benign	Het
Nos2	A	G	11: 78,846,290 (GRCm39)		probably null	Het
Odf2l	C	T	3: 144,833,820 (GRCm39)	S160L	probably benign	Het
Or10ag54	T	A	2: 87,099,743 (GRCm39)	M206K	probably benign	Het
Or2av9	T	C	11: 58,381,063 (GRCm39)	I173V	possibly damaging	Het
Or4p18	A	G	2: 88,233,137 (GRCm39)	I47T	probably damaging	Het
Or56b34	T	C	7: 104,937,435 (GRCm39)	L45P	possibly damaging	Het
Or8g53	T	C	9: 39,683,886 (GRCm39)	D70G	probably damaging	Het
Pclo	T	C	5: 14,838,464 (GRCm39)	W1424R		Het
Pde8a	A	G	7: 80,956,498 (GRCm39)	N299S	probably benign	Het
Pi4kb	C	T	3: 94,900,344 (GRCm39)	T326M	probably damaging	Het
Pip4k2c	A	T	10: 127,037,037 (GRCm39)	H177Q	probably damaging	Het
Pld1	T	A	3: 28,177,846 (GRCm39)	W686R		Het
Ppp1r3b	A	T	8: 35,851,419 (GRCm39)	D86V	probably damaging	Het
Ppp1r3g	C	T	13: 36,153,143 (GRCm39)	R188*	probably null	Het
Pramel48	G	T	5: 95,630,939 (GRCm39)	C272F	possibly damaging	Het
Ptbp1	A	G	10: 79,699,023 (GRCm39)	E527G	probably damaging	Het
Rasef	T	C	4: 73,698,558 (GRCm39)		probably benign	Het
Rce1	A	T	19: 4,675,532 (GRCm39)	C34S	unknown	Het
Rnf144a	T	C	12: 26,370,948 (GRCm39)		probably benign	Het
Rpl7	C	T	1: 16,173,485 (GRCm39)	R88H	possibly damaging	Het
Rubcnl	A	T	14: 75,269,359 (GRCm39)	T6S		Het
Samd9l	A	T	6: 3,374,990 (GRCm39)	V757D	probably damaging	Het
Sec22c	A	G	9: 121,514,638 (GRCm39)	V221A	probably benign	Het
Slc16a6	A	G	11: 109,345,932 (GRCm39)	Y444H	probably benign	Het
Slc6a15	A	T	10: 103,225,179 (GRCm39)	Y89F	probably damaging	Het
Smg1	A	G	7: 117,739,006 (GRCm39)	V3466A	probably benign	Het
Sobp	G	A	10: 43,036,824 (GRCm39)	T38I	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srsf5	T	A	12: 80,996,278 (GRCm39)	F151I	probably damaging	Het
Taf2	A	C	15: 54,928,001 (GRCm39)	L134R	possibly damaging	Het
Tbc1d1	A	G	5: 64,442,020 (GRCm39)		probably benign	Het
Thap1	C	T	8: 26,648,261 (GRCm39)		probably benign	Het
Tmc5	A	T	7: 118,222,332 (GRCm39)	M11L	probably benign	Het
Tnfaip8	ACACACTCTCTCTCTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Tomm7	T	C	5: 24,049,047 (GRCm39)	K9E	possibly damaging	Het
Trem3	T	C	17: 48,556,865 (GRCm39)	V112A	probably benign	Het
Vmn1r178	G	A	7: 23,593,264 (GRCm39)	C104Y	probably damaging	Het
Zdhhc20	A	T	14: 58,080,721 (GRCm39)	S263T	possibly damaging	Het
Zdhhc20	A	G	14: 58,103,089 (GRCm39)	S87P	probably benign	Het
Zfp423	C	A	8: 88,507,827 (GRCm39)	C839F	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
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
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'- CGAGTGATGGCTCCTTGTAG -3'
(R):5'- AAACGCCACGGCAAGTACTG -3'

Sequencing Primer
(F):5'- ATGGCTCCTTGTAGACTGCG -3'
(R):5'- GCAAGTACTGCCACCTGC -3'

Posted On

2021-07-15