Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03265:Hey1'

415062

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hey1

Ensembl Gene

ENSMUSG00000040289

Gene Name

hairy/enhancer-of-split related with YRPW motif 1

Synonyms

HRT1, CHF2, hesr-1, bHLHb31, Herp2, Hesr1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03265

Quality Score

Status

Chromosome

Chromosomal Location

8663359-8667256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8664914 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 161 (Y161C)

Ref Sequence

ENSEMBL: ENSMUSP00000038014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042412]

Predicted Effect

probably benign
Transcript: ENSMUST00000042412
AA Change: Y161C

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000038014
Gene: ENSMUSG00000040289
AA Change: Y161C

Domain	Start	End	E-Value	Type
HLH	55	110	2.3e-14	SMART
ORANGE	120	167	2.8e-14	SMART
low complexity region	186	197	N/A	INTRINSIC
low complexity region	232	244	N/A	INTRINSIC
low complexity region	246	277	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194299

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile with no major developmental defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,047,991	D4777E	probably benign	Het
Abca8a	C	A	11: 110,053,103	M1113I	probably benign	Het
Acvr1b	A	G	15: 101,203,078	R374G	probably damaging	Het
Akr1a1	A	G	4: 116,637,817	M286T	probably benign	Het
Anapc1	T	C	2: 128,627,197	S1575G	probably damaging	Het
Apba2	A	G	7: 64,695,323	D87G	probably damaging	Het
Arhgap21	A	G	2: 20,849,628	F1641S	probably benign	Het
Atad2b	T	A	12: 5,024,628	H1062Q	probably benign	Het
Bivm	A	G	1: 44,141,845	R396G	probably damaging	Het
Bmi1	T	A	2: 18,681,861	M17K	possibly damaging	Het
Bptf	T	C	11: 107,054,628	N2480S	probably benign	Het
Cacna2d3	T	C	14: 28,952,286	E944G	probably damaging	Het
Ces2a	C	T	8: 104,737,443	H236Y	possibly damaging	Het
Dnah7a	T	C	1: 53,528,848	D1863G	probably benign	Het
Dnajc17	C	A	2: 119,185,718	E91D	probably benign	Het
Dus2	C	A	8: 106,033,791		probably benign	Het
Epha6	T	C	16: 60,060,231		probably benign	Het
Erap1	A	T	13: 74,664,127	T354S	probably damaging	Het
Fbxo11	T	C	17: 87,992,831	H851R	probably damaging	Het
Gm20532	G	A	2: 26,632,684	C90Y	unknown	Het
Gpr21	T	C	2: 37,518,074	Y211H	probably damaging	Het
Hectd4	A	G	5: 121,259,939		probably benign	Het
Hephl1	G	A	9: 15,060,959	T895I	probably benign	Het
Kdr	A	G	5: 75,960,773	Y526H	probably damaging	Het
Lpp	A	G	16: 24,761,987	Y151C	probably damaging	Het
Macc1	A	G	12: 119,446,976	N493S	probably benign	Het
Olfr1022	T	A	2: 85,869,150	M186K	possibly damaging	Het
Olfr1101	T	A	2: 86,989,080	Y32F	probably damaging	Het
Olfr315	T	C	11: 58,778,871	V248A	probably damaging	Het
Olfr605	C	A	7: 103,442,448	R225L	probably benign	Het
Olfr786	A	T	10: 129,436,925	T38S	possibly damaging	Het
Pcdhb21	A	G	18: 37,515,153	D445G	probably damaging	Het
Prkra	T	C	2: 76,640,270	N123D	probably benign	Het
Slc25a33	A	C	4: 149,762,436	L56R	probably damaging	Het
Usp36	A	G	11: 118,264,809	V714A	possibly damaging	Het
Vmn1r174	T	A	7: 23,754,473	L188*	probably null	Het
Vmn2r12	A	G	5: 109,092,070	V209A	probably benign	Het
Zfp809	A	G	9: 22,243,043	Y352C	probably benign	Het

Other mutations in Hey1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02116:Hey1	APN	3	8666580	splice site	probably null
IGL02486:Hey1	APN	3	8666519	missense	probably damaging	1.00
R1615:Hey1	UTSW	3	8664838	missense	possibly damaging	0.47
R1969:Hey1	UTSW	3	8666819	missense	probably benign	0.01
R1987:Hey1	UTSW	3	8664897	missense	probably benign	0.16
R2419:Hey1	UTSW	3	8665943	critical splice donor site	probably null
R3177:Hey1	UTSW	3	8664891	missense	probably benign	0.10
R3277:Hey1	UTSW	3	8664891	missense	probably benign	0.10
R3941:Hey1	UTSW	3	8664578	missense	probably damaging	1.00
R4709:Hey1	UTSW	3	8665903	intron	probably benign
R5977:Hey1	UTSW	3	8666358	splice site	probably null
R5988:Hey1	UTSW	3	8666319	missense	probably damaging	1.00
R7951:Hey1	UTSW	3	8664872	missense	possibly damaging	0.92
R8507:Hey1	UTSW	3	8664776	missense	probably benign
R8508:Hey1	UTSW	3	8664776	missense	probably benign
R8509:Hey1	UTSW	3	8664776	missense	probably benign
X0019:Hey1	UTSW	3	8664867	missense	probably benign	0.06

Posted On

2016-08-02