Mutagenetix > Incidental Mutation

Incidental Mutation 'R2419:Hey1'

249124

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

040381-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2419 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

8728419-8732098 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 8731003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038014 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000042412

SMART Domains

Protein: ENSMUSP00000038014
Gene: ENSMUSG00000040289

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

0.9496

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,328,001 (GRCm39)	A768T	probably benign	Het
Acyp2	T	C	11: 30,582,316 (GRCm39)	Y33C	probably benign	Het
Ampd3	A	G	7: 110,367,576 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,122,997 (GRCm39)	D501G	probably damaging	Het
Arl4d	A	T	11: 101,557,714 (GRCm39)	Q80L	probably damaging	Het
Bcorl1	A	G	X: 47,459,418 (GRCm39)	T425A	probably damaging	Het
Ccdc38	T	A	10: 93,384,837 (GRCm39)	V35D	probably benign	Het
Cd6	G	A	19: 10,770,216 (GRCm39)	P492S	probably damaging	Het
Cdh20	G	A	1: 104,902,740 (GRCm39)	S477N	possibly damaging	Het
Cnmd	G	A	14: 79,875,488 (GRCm39)	P311S	probably damaging	Het
Cnot8	G	A	11: 58,006,136 (GRCm39)	G222R	probably damaging	Het
Dnah9	A	T	11: 65,986,241 (GRCm39)	L1131*	probably null	Het
Dscc1	G	A	15: 54,946,820 (GRCm39)	R302*	probably null	Het
Dusp18	T	C	11: 3,847,018 (GRCm39)	S3P	possibly damaging	Het
Eml2	A	G	7: 18,910,620 (GRCm39)		probably benign	Het
Foxb2	G	C	19: 16,850,325 (GRCm39)	A227G	probably damaging	Het
Itk	A	G	11: 46,229,044 (GRCm39)	F379L	probably damaging	Het
Kcna2	G	A	3: 107,011,469 (GRCm39)	G17R	probably benign	Het
Kif7	C	A	7: 79,348,441 (GRCm39)	R1300L	probably benign	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Leng9	A	G	7: 4,151,626 (GRCm39)	V350A	probably benign	Het
Lmbr1l	A	C	15: 98,805,418 (GRCm39)	F361C	possibly damaging	Het
Lrat	A	G	3: 82,810,992 (GRCm39)	S10P	probably damaging	Het
Lrrk2	C	A	15: 91,681,729 (GRCm39)		probably benign	Het
Mcur1	C	T	13: 43,703,013 (GRCm39)	V241M	possibly damaging	Het
Met	T	C	6: 17,535,829 (GRCm39)		probably benign	Het
Mical3	A	G	6: 120,936,884 (GRCm39)	V342A	probably benign	Het
Nup210	G	A	6: 90,994,538 (GRCm39)		probably benign	Het
Or1i2	T	A	10: 78,448,221 (GRCm39)	I85F	probably benign	Het
Or1j12	T	A	2: 36,343,338 (GRCm39)	V247E	probably damaging	Het
Or4c107	A	G	2: 88,789,380 (GRCm39)	N190S	probably benign	Het
Pcdhac1	T	C	18: 37,224,381 (GRCm39)	L398P	probably benign	Het
Phc3	T	C	3: 31,005,027 (GRCm39)	M189V	probably damaging	Het
Plcb1	A	G	2: 135,104,020 (GRCm39)		probably benign	Het
Plcxd3	G	T	15: 4,604,245 (GRCm39)	K284N	probably benign	Het
Plxnb2	A	G	15: 89,045,272 (GRCm39)	V1058A	possibly damaging	Het
Rbbp5	T	C	1: 132,421,564 (GRCm39)	I88T	possibly damaging	Het
Rfpl4b	T	C	10: 38,697,368 (GRCm39)	R78G	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Samt2	A	T	X: 153,358,223 (GRCm39)		probably null	Het
Sdad1	T	C	5: 92,453,677 (GRCm39)	H37R	possibly damaging	Het
Setd2	T	A	9: 110,378,065 (GRCm39)	F627I	possibly damaging	Het
Ski	A	G	4: 155,245,350 (GRCm39)	S293P	probably benign	Het
Slc27a1	A	G	8: 72,032,560 (GRCm39)	E191G	possibly damaging	Het
Snx18	T	C	13: 113,753,755 (GRCm39)	M393V	possibly damaging	Het
Spata31g1	A	G	4: 42,974,146 (GRCm39)	T1160A	possibly damaging	Het
Tacc1	A	G	8: 25,672,829 (GRCm39)	V42A	possibly damaging	Het
Tbc1d8	A	G	1: 39,415,983 (GRCm39)	F897L	probably damaging	Het
Tenm3	C	T	8: 48,729,693 (GRCm39)	D1438N	possibly damaging	Het
Tmem62	G	A	2: 120,837,586 (GRCm39)	G501E	probably damaging	Het
Tmem94	A	G	11: 115,687,641 (GRCm39)	K1167E	probably damaging	Het
Trap1	A	G	16: 3,886,194 (GRCm39)	S88P	probably benign	Het
Ugt2b38	T	C	5: 87,571,591 (GRCm39)	D147G	probably damaging	Het
Vmn1r168	A	T	7: 23,240,824 (GRCm39)	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,740,420 (GRCm39)	L17R	probably damaging	Het
Zcchc14	T	A	8: 122,330,675 (GRCm39)	Q896L	probably damaging	Het
Zfp619	A	G	7: 39,185,307 (GRCm39)	K446E	possibly damaging	Het
Zpr1	T	C	9: 46,187,490 (GRCm39)		probably benign	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
R1615:Hey1	UTSW	3	8,729,898 (GRCm39)	missense	possibly damaging	0.47
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
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'- GCTCAAGAACCCATGTGCTG -3'
(R):5'- GATGTTCTTACACAAATTCCCACAG -3'

Sequencing Primer
(F):5'- CTCAAGAACCCATGTGCTGTTGAAG -3'
(R):5'- GGGATCTGCTAAGCTAGA -3'

Posted On

2014-11-12