Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Hey1'

258253

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8728419-8732098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8729951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 169 (S169G)

Ref Sequence

ENSEMBL: ENSMUSP00000038014 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042412
AA Change: S169G

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000038014
Gene: ENSMUSG00000040289
AA Change: S169G

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,020 (GRCm39)	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,802,663 (GRCm39)	N646S	probably damaging	Het
Adcy8	C	T	15: 64,571,008 (GRCm39)	G1242S	probably benign	Het
Ano9	T	A	7: 140,684,037 (GRCm39)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Btnl9	T	C	11: 49,060,503 (GRCm39)	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,240,002 (GRCm39)	S225T	probably benign	Het
Clca4b	T	C	3: 144,617,120 (GRCm39)	I843M	probably benign	Het
Cntn4	G	A	6: 106,414,925 (GRCm39)		probably null	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,134,216 (GRCm39)	V41M	probably damaging	Het
Duox1	T	C	2: 122,170,597 (GRCm39)	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm39)		probably null	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,122,195 (GRCm39)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,692,873 (GRCm39)	F49S	probably damaging	Het
Gli3	A	T	13: 15,900,567 (GRCm39)	Q1318L	probably benign	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gm7104	A	T	12: 88,252,498 (GRCm39)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,355,747 (GRCm39)	H46R	probably damaging	Het
Herc2	T	C	7: 55,803,176 (GRCm39)	V2175A	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hlf	T	C	11: 90,236,661 (GRCm39)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,751,448 (GRCm39)	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kif2a	A	G	13: 107,113,264 (GRCm39)	I455T	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,798,637 (GRCm39)	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,583,475 (GRCm39)	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,666,273 (GRCm39)		probably null	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Mdh1b	G	A	1: 63,750,690 (GRCm39)	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,314,650 (GRCm39)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or52k2	T	C	7: 102,253,783 (GRCm39)	V74A	possibly damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Parp9	T	C	16: 35,768,578 (GRCm39)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,101,703 (GRCm39)	F963L	probably damaging	Het
Pwp1	C	T	10: 85,717,943 (GRCm39)	L294F	probably benign	Het
Radil	A	G	5: 142,492,611 (GRCm39)	L339P	probably damaging	Het
Raver1	G	A	9: 20,990,573 (GRCm39)	P316S	possibly damaging	Het
Rell1	A	G	5: 64,084,330 (GRCm39)		probably null	Het
Rxrg	A	G	1: 167,463,269 (GRCm39)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Unc13a	A	C	8: 72,082,339 (GRCm39)	C1642G	probably benign	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Wrn	A	G	8: 33,807,582 (GRCm39)	M292T	probably damaging	Het
Zfp423	A	G	8: 88,508,959 (GRCm39)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,234,345 (GRCm39)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly 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
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
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
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'- TAGGGCTTGCCAAGGTTTGC -3'
(R):5'- TTATTTTGACGCGCACGCC -3'

Sequencing Primer
(F):5'- AGTTTGGAGGCCGAGGTCAC -3'
(R):5'- CCTGGCTATGGACTATCGGAG -3'

Posted On

2015-01-23