Mutagenetix > Incidental Mutation

Incidental Mutation 'R1615:Hey1'

177034

Institutional Source

Beutler Lab

Gene Symbol

Hey1

Ensembl Gene

ENSMUSG00000040289

Gene Name

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

Synonyms

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

MMRRC Submission

039652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1615 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

8728419-8732098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8729898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 186 (H186Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038014 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042412
AA Change: H186Q

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038014
Gene: ENSMUSG00000040289
AA Change: H186Q

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

Meta Mutation Damage Score

0.0811

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 88.8%

Validation Efficiency

98% (64/65)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,743,625 (GRCm39)	C328S	probably benign	Het
Adgrv1	G	T	13: 81,572,407 (GRCm39)	T4918K	probably benign	Het
Aen	T	C	7: 78,555,660 (GRCm39)	Y108H	probably damaging	Het
Amer3	T	C	1: 34,627,252 (GRCm39)	M497T	probably damaging	Het
Arid2	C	T	15: 96,269,535 (GRCm39)	T1216M	possibly damaging	Het
Birc6	A	G	17: 74,916,404 (GRCm39)		probably null	Het
Bzw2	A	G	12: 36,169,126 (GRCm39)		probably benign	Het
Ccr1	T	C	9: 123,763,573 (GRCm39)	H319R	probably benign	Het
Dnah11	A	G	12: 118,014,457 (GRCm39)	I2010T	probably damaging	Het
Dnhd1	A	G	7: 105,352,413 (GRCm39)	Y2522C	probably benign	Het
Dnhd1	T	A	7: 105,362,913 (GRCm39)	I3825K	possibly damaging	Het
Dst	A	T	1: 34,238,452 (GRCm39)	D3718V	probably damaging	Het
Esp36	A	G	17: 38,730,330 (GRCm39)		probably benign	Het
Fbxw21	T	C	9: 108,972,794 (GRCm39)	Y380C	probably damaging	Het
Fhad1	G	A	4: 141,649,634 (GRCm39)	T836M	probably damaging	Het
Fhod1	C	T	8: 106,074,463 (GRCm39)		probably benign	Het
Flt1	A	G	5: 147,576,098 (GRCm39)	C637R	probably damaging	Het
Fmnl2	A	G	2: 53,008,436 (GRCm39)	K809E	probably damaging	Het
Grm1	G	T	10: 10,617,252 (GRCm39)	Y510*	probably null	Het
Insyn1	C	T	9: 58,406,351 (GRCm39)	A87V	probably damaging	Het
Itga2b	C	T	11: 102,350,963 (GRCm39)		probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Lmcd1	A	G	6: 112,250,911 (GRCm39)	D7G	probably benign	Het
Lrrc1	T	C	9: 77,342,400 (GRCm39)	D358G	possibly damaging	Het
Lyn	A	G	4: 3,748,765 (GRCm39)	K248E	probably benign	Het
Map4k4	A	G	1: 40,045,990 (GRCm39)		probably benign	Het
Map4k5	A	T	12: 69,891,187 (GRCm39)	L160H	probably damaging	Het
Mtcl2	T	G	2: 156,862,663 (GRCm39)	H1422P	probably damaging	Het
Myo6	C	T	9: 80,215,007 (GRCm39)	R1247C	probably damaging	Het
Myo9a	A	G	9: 59,695,739 (GRCm39)	E347G	possibly damaging	Het
Ndfip1	C	T	18: 38,593,672 (GRCm39)	P213S	probably benign	Het
Neurl3	T	C	1: 36,308,470 (GRCm39)	E114G	possibly damaging	Het
Nlrp14	A	T	7: 106,795,370 (GRCm39)	I877F	probably benign	Het
Obscn	A	G	11: 58,990,651 (GRCm39)	S1733P	probably benign	Het
Oxgr1	A	T	14: 120,260,185 (GRCm39)	S7R	probably benign	Het
Plcb1	A	T	2: 135,204,364 (GRCm39)		probably benign	Het
Prkag2	G	T	5: 25,080,176 (GRCm39)	N120K	possibly damaging	Het
Rnf43	C	T	11: 87,622,485 (GRCm39)	R529*	probably null	Het
Saraf	A	G	8: 34,632,442 (GRCm39)	K174E	possibly damaging	Het
Scrib	T	C	15: 75,938,054 (GRCm39)	Q264R	probably benign	Het
Sh3rf3	T	A	10: 58,966,899 (GRCm39)	M747K	probably benign	Het
Shf	T	C	2: 122,179,913 (GRCm39)	H421R	probably damaging	Het
Slc35g3	A	G	11: 69,651,368 (GRCm39)	S228P	probably damaging	Het
Slit1	A	G	19: 41,639,110 (GRCm39)		probably benign	Het
Srrm4	A	G	5: 116,585,359 (GRCm39)		probably benign	Het
Stfa1	T	G	16: 36,100,829 (GRCm39)	V23G	probably damaging	Het
Swap70	A	G	7: 109,872,498 (GRCm39)	D371G	probably benign	Het
Tada2a	T	C	11: 83,993,926 (GRCm39)	D186G	probably damaging	Het
Tdpoz3	C	A	3: 93,733,618 (GRCm39)	Q98K	probably benign	Het
Tgfbrap1	A	G	1: 43,091,145 (GRCm39)	V660A	probably benign	Het
Tnn	A	G	1: 159,945,978 (GRCm39)	Y947H	possibly damaging	Het
Trim60	A	T	8: 65,453,162 (GRCm39)	C362*	probably null	Het
Vmn1r81	T	A	7: 11,994,441 (GRCm39)	N56Y	probably damaging	Het
Vsig8	A	G	1: 172,387,280 (GRCm39)	D52G	probably damaging	Het
Wdfy4	G	A	14: 32,764,469 (GRCm39)	R2140C	probably damaging	Het

Other mutations in Hey1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02116:Hey1	APN	3	8,731,640 (GRCm39)	splice site	probably null
IGL02486:Hey1	APN	3	8,731,579 (GRCm39)	missense	probably damaging	1.00
IGL03265:Hey1	APN	3	8,729,974 (GRCm39)	missense	probably benign	0.07
R1969:Hey1	UTSW	3	8,731,879 (GRCm39)	missense	probably benign	0.01
R1987:Hey1	UTSW	3	8,729,957 (GRCm39)	missense	probably benign	0.16
R2419:Hey1	UTSW	3	8,731,003 (GRCm39)	critical splice donor site	probably null
R3177:Hey1	UTSW	3	8,729,951 (GRCm39)	missense	probably benign	0.10
R3277:Hey1	UTSW	3	8,729,951 (GRCm39)	missense	probably benign	0.10
R3941:Hey1	UTSW	3	8,729,638 (GRCm39)	missense	probably damaging	1.00
R4709:Hey1	UTSW	3	8,730,963 (GRCm39)	intron	probably benign
R5977:Hey1	UTSW	3	8,731,418 (GRCm39)	splice site	probably null
R5988:Hey1	UTSW	3	8,731,379 (GRCm39)	missense	probably damaging	1.00
R7951:Hey1	UTSW	3	8,729,932 (GRCm39)	missense	possibly damaging	0.92
R8507:Hey1	UTSW	3	8,729,836 (GRCm39)	missense	probably benign
R8508:Hey1	UTSW	3	8,729,836 (GRCm39)	missense	probably benign
R8509:Hey1	UTSW	3	8,729,836 (GRCm39)	missense	probably benign
R9126:Hey1	UTSW	3	8,729,651 (GRCm39)	missense	probably benign	0.03
X0019:Hey1	UTSW	3	8,729,927 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TAGAAAGCTCCGATCTCTGTCCCC -3'
(R):5'- CGAAGTTGCCCGTTATCTGAGCATC -3'

Sequencing Primer
(F):5'- CAAGGTTTGCTGCCTGC -3'
(R):5'- TCATTGAAGGACTCGATGCC -3'

Posted On

2014-04-24