Mutagenetix > Incidental Mutation

Incidental Mutation 'R9514:Hic2'

718413

Institutional Source

Beutler Lab

Gene Symbol

Hic2

Ensembl Gene

ENSMUSG00000050240

Gene Name

hypermethylated in cancer 2

Synonyms

HRG22

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.771) question?

Stock #

R9514 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17051451-17081294 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17076293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 374 (V374A)

Ref Sequence

ENSEMBL: ENSMUSP00000087656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090190] [ENSMUST00000232082]

AlphaFold

Q9JLZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090190
AA Change: V374A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000087656
Gene: ENSMUSG00000050240
AA Change: V374A

Domain	Start	End	E-Value	Type
BTB	46	143	6.83e-23	SMART
low complexity region	213	240	N/A	INTRINSIC
low complexity region	244	266	N/A	INTRINSIC
low complexity region	380	391	N/A	INTRINSIC
low complexity region	406	423	N/A	INTRINSIC
ZnF_C2H2	446	468	2.49e-1	SMART
low complexity region	477	493	N/A	INTRINSIC
ZnF_C2H2	509	531	8.47e-4	SMART
ZnF_C2H2	537	559	2.3e-5	SMART
ZnF_C2H2	565	587	1.13e-4	SMART
ZnF_C2H2	593	615	1.69e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232082
AA Change: V374A

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene results in embryonic lethality. A subset of mice heterozygous for a knock-out allele exhibit prenatal lethality and cardiac defects including a ventricular septal defect with overriding aortic valve, and thin myocardial and trabecular layers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,312,533 (GRCm39)	S4P	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Acsl6	A	G	11: 54,225,880 (GRCm39)	N307D	probably benign	Het
Atxn1	A	G	13: 45,721,433 (GRCm39)	V154A	probably benign	Het
Bltp3a	A	G	17: 28,112,414 (GRCm39)	D1201G	probably damaging	Het
Cacna2d4	T	C	6: 119,213,611 (GRCm39)	L10S	probably benign	Het
Cd33	A	T	7: 43,182,150 (GRCm39)	H98Q	probably benign	Het
Cebpz	A	T	17: 79,239,684 (GRCm39)	M579K	probably benign	Het
Cenpk	T	G	13: 104,370,682 (GRCm39)	C103G	probably benign	Het
Cep97	T	A	16: 55,726,093 (GRCm39)	Q670L	probably benign	Het
Cfap65	C	T	1: 74,945,468 (GRCm39)		probably null	Het
Cir1	A	G	2: 73,142,781 (GRCm39)	S18P	probably damaging	Het
Coprs	T	C	8: 13,935,081 (GRCm39)	Y158C	probably damaging	Het
Creld1	T	C	6: 113,469,765 (GRCm39)	F389S	probably damaging	Het
Dimt1	T	C	13: 107,093,636 (GRCm39)	I276T	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dsp	T	A	13: 38,371,781 (GRCm39)	C911S	probably benign	Het
Egr3	A	G	14: 70,314,978 (GRCm39)	I29V	probably benign	Het
Fam186a	A	G	15: 99,844,766 (GRCm39)	S493P	unknown	Het
Fam83a	G	A	15: 57,849,765 (GRCm39)	G103D	possibly damaging	Het
Fat2	T	A	11: 55,175,808 (GRCm39)	Q1635L	probably damaging	Het
Figla	A	C	6: 85,997,689 (GRCm39)	H139P	probably benign	Het
Fryl	T	C	5: 73,262,115 (GRCm39)	K551E	probably damaging	Het
Galr2	A	G	11: 116,174,452 (GRCm39)	T361A	probably benign	Het
Gart	A	T	16: 91,427,596 (GRCm39)	S467R	probably benign	Het
Ggps1	T	C	13: 14,229,742 (GRCm39)	K45R	probably benign	Het
Ghsr	G	C	3: 27,426,630 (GRCm39)	V229L	possibly damaging	Het
H2ac21	A	G	3: 96,127,401 (GRCm39)	E57G	probably damaging	Het
Hectd2	A	T	19: 36,582,689 (GRCm39)	H473L	possibly damaging	Het
Hivep2	T	A	10: 14,005,523 (GRCm39)	I707N	probably benign	Het
Il17rc	T	C	6: 113,449,741 (GRCm39)	S116P	probably damaging	Het
Krt34	A	T	11: 99,929,226 (GRCm39)	I328N	probably damaging	Het
Krt79	G	A	15: 101,840,288 (GRCm39)	R303C	probably damaging	Het
Lama2	T	C	10: 27,100,015 (GRCm39)	E830G	probably benign	Het
Lamb2	C	T	9: 108,358,006 (GRCm39)	T149I	probably damaging	Het
Mau2	T	C	8: 70,480,153 (GRCm39)	Y318C	probably damaging	Het
Mier2	T	C	10: 79,377,496 (GRCm39)	S486G	probably benign	Het
Mllt10	A	G	2: 18,164,322 (GRCm39)	D284G	probably damaging	Het
Nbea	A	T	3: 55,937,366 (GRCm39)	S748R	probably damaging	Het
Ncoa6	A	G	2: 155,248,133 (GRCm39)	S1724P	probably benign	Het
Nipal4	T	A	11: 46,052,922 (GRCm39)		probably null	Het
Nlrc4	G	C	17: 74,753,736 (GRCm39)	L216V	probably benign	Het
Ogfr	A	G	2: 180,235,417 (GRCm39)	M164V	possibly damaging	Het
Or1o4	G	T	17: 37,591,386 (GRCm39)		probably benign	Het
Or4b12	G	A	2: 90,096,709 (GRCm39)	Q22*	probably null	Het
Pcdha12	G	T	18: 37,155,526 (GRCm39)	W748C	probably damaging	Het
Pkd1l3	T	C	8: 110,395,849 (GRCm39)	V2083A	probably damaging	Het
Plin3	C	A	17: 56,587,824 (GRCm39)	G297V	probably benign	Het
Prex1	C	T	2: 166,419,896 (GRCm39)	R1260Q	possibly damaging	Het
Prpf38b	A	G	3: 108,818,619 (GRCm39)	V47A	probably benign	Het
Ptch1	T	C	13: 63,675,071 (GRCm39)	T851A	probably benign	Het
Ptk7	T	A	17: 46,887,744 (GRCm39)	I563F	possibly damaging	Het
Ptprm	A	G	17: 67,116,466 (GRCm39)	Y938H	probably damaging	Het
R3hcc1l	G	A	19: 42,507,203 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,443,684 (GRCm39)	V89A	probably benign	Het
Sh2b1	CTC	CTCCGCCACGGGGACCAGTTC	7: 126,066,770 (GRCm39)		probably benign	Het
Sh2b1	AGCTCAGCCACGGGGACC	AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	ACCAGCTC	ACCAGCTCAGCCACGGGGGCCAGCTC	7: 126,066,765 (GRCm39)		probably benign	Het
Slain1	T	A	14: 103,932,748 (GRCm39)	V444E	probably damaging	Het
Slc10a5	T	A	3: 10,400,532 (GRCm39)	I43F	possibly damaging	Het
Smarca2	T	C	19: 26,659,452 (GRCm39)	F914S	possibly damaging	Het
Smarca5	A	C	8: 81,428,840 (GRCm39)	L1003V	probably damaging	Het
Spata18	A	T	5: 73,829,840 (GRCm39)	I332F		Het
Spata31d1e	A	G	13: 59,890,806 (GRCm39)	V338A	probably damaging	Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Tbx19	A	G	1: 164,966,546 (GRCm39)	S443P	unknown	Het
Tktl2	C	G	8: 66,965,840 (GRCm39)	A466G	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,815,122 (GRCm39)	V17A	probably benign	Het
Tom1l2	T	C	11: 60,153,486 (GRCm39)	T164A	probably damaging	Het
Tor1aip1	T	A	1: 155,906,177 (GRCm39)	D205V	probably damaging	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Trim11	G	T	11: 58,878,477 (GRCm39)	A251S	unknown	Het
Trim33	T	C	3: 103,239,074 (GRCm39)	V684A	probably benign	Het
Triobp	C	T	15: 78,877,378 (GRCm39)	R1637C	probably damaging	Het
Trpm3	A	G	19: 22,960,040 (GRCm39)	N1225S	probably benign	Het
Usp21	T	C	1: 171,112,503 (GRCm39)	Y300C	probably damaging	Het
Usp32	T	C	11: 84,913,560 (GRCm39)	T924A	probably damaging	Het
Vmn1r198	A	T	13: 22,539,015 (GRCm39)	H167L	possibly damaging	Het
Vmn2r23	A	G	6: 123,689,672 (GRCm39)	T183A	probably benign	Het
Zc3h8	T	C	2: 128,773,223 (GRCm39)	Y213C	probably damaging	Het
Zcchc17	A	T	4: 130,232,337 (GRCm39)	D55E	probably benign	Het
Zfp408	A	T	2: 91,478,368 (GRCm39)	W26R	probably damaging	Het
Zfp937	G	T	2: 150,080,890 (GRCm39)	A307S	possibly damaging	Het

Other mutations in Hic2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01821:Hic2	APN	16	17,075,695 (GRCm39)	missense	probably benign	0.00
IGL02021:Hic2	APN	16	17,076,617 (GRCm39)	missense	probably benign	0.01
IGL02310:Hic2	APN	16	17,075,621 (GRCm39)	missense	probably damaging	1.00
IGL03049:Hic2	APN	16	17,075,800 (GRCm39)	missense	probably benign	0.00
R0256:Hic2	UTSW	16	17,075,377 (GRCm39)	missense	probably benign	0.00
R1433:Hic2	UTSW	16	17,076,686 (GRCm39)	missense	probably benign
R1771:Hic2	UTSW	16	17,076,578 (GRCm39)	missense	probably benign	0.43
R1774:Hic2	UTSW	16	17,076,511 (GRCm39)	missense	probably damaging	1.00
R1954:Hic2	UTSW	16	17,076,857 (GRCm39)	missense	probably damaging	1.00
R2207:Hic2	UTSW	16	17,075,324 (GRCm39)	missense	possibly damaging	0.69
R5027:Hic2	UTSW	16	17,076,611 (GRCm39)	missense	possibly damaging	0.90
R5344:Hic2	UTSW	16	17,075,712 (GRCm39)	missense	probably benign	0.21
R7154:Hic2	UTSW	16	17,076,806 (GRCm39)	missense	possibly damaging	0.88
R7423:Hic2	UTSW	16	17,075,993 (GRCm39)	missense	probably damaging	1.00
R7593:Hic2	UTSW	16	17,076,979 (GRCm39)	missense	probably damaging	0.98
R8082:Hic2	UTSW	16	17,076,563 (GRCm39)	missense	probably damaging	0.98
R8154:Hic2	UTSW	16	17,076,344 (GRCm39)	missense	probably benign	0.05
R8241:Hic2	UTSW	16	17,076,950 (GRCm39)	missense	probably damaging	1.00
R8511:Hic2	UTSW	16	17,075,874 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- AGGAAAACCACCTGAGTCTGC -3'
(R):5'- TAAACATTGTCCCCATATGACACTG -3'

Sequencing Primer
(F):5'- AACCACCTGAGTCTGCTGGAAG -3'
(R):5'- ATAGCCTTCCTGCCGGTATACATAG -3'

Posted On

2022-07-18