Mutagenetix > Incidental Mutation

Incidental Mutation 'R5977:Hey1'

482131

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

044159-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5977 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8728419-8732098 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 8731418 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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,451,106 (GRCm39)	R446S	probably damaging	Het
2900092C05Rik	A	T	7: 12,288,664 (GRCm39)	H159L	probably benign	Het
4933405O20Rik	G	A	7: 50,249,838 (GRCm39)	V291I	probably damaging	Het
A2ml1	A	G	6: 128,558,085 (GRCm39)	Y24H	probably damaging	Het
Adgrv1	C	T	13: 81,583,678 (GRCm39)		probably null	Het
Ankrd52	C	T	10: 128,218,566 (GRCm39)	H351Y	probably damaging	Het
Anks6	C	A	4: 47,035,748 (GRCm39)	A588S	probably benign	Het
Arl15	T	G	13: 114,070,645 (GRCm39)	V80G	probably damaging	Het
Atp8a1	A	G	5: 67,904,628 (GRCm39)	I532T	possibly damaging	Het
Birc6	T	C	17: 74,910,031 (GRCm39)	C1475R	probably damaging	Het
Carmil1	C	T	13: 24,253,719 (GRCm39)	R394Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,359,697 (GRCm39)	I254T	probably damaging	Het
Cemip2	A	G	19: 21,803,447 (GRCm39)	T827A	probably benign	Het
Col6a3	A	G	1: 90,749,571 (GRCm39)	V421A	possibly damaging	Het
Cped1	T	C	6: 22,254,607 (GRCm39)	V1000A	probably damaging	Het
Cr1l	A	T	1: 194,797,076 (GRCm39)	Y282*	probably null	Het
Cryl1	G	T	14: 57,620,236 (GRCm39)	T43K	probably benign	Het
Csmd2	C	T	4: 127,952,827 (GRCm39)	P92L	probably damaging	Het
Ddx60	G	A	8: 62,474,444 (GRCm39)		probably null	Het
Dhrs7b	C	T	11: 60,743,328 (GRCm39)	R187*	probably null	Het
Dmtf1	T	C	5: 9,190,451 (GRCm39)	T88A	probably damaging	Het
Dnah2	T	C	11: 69,411,707 (GRCm39)	E305G	possibly damaging	Het
Dscaml1	A	C	9: 45,632,596 (GRCm39)	N1154T	probably benign	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Egflam	T	A	15: 7,347,726 (GRCm39)	Y68F	possibly damaging	Het
Gcm2	A	G	13: 41,256,603 (GRCm39)	V382A	probably damaging	Het
Gm18358	A	G	7: 84,739,756 (GRCm39)		noncoding transcript	Het
Gm3443	T	G	19: 21,534,960 (GRCm39)	I75S	probably benign	Het
Gpr182	C	A	10: 127,586,748 (GRCm39)	V68F	possibly damaging	Het
Herc1	T	A	9: 66,340,604 (GRCm39)	M1651K	possibly damaging	Het
Ighv1-43	A	C	12: 114,909,829 (GRCm39)	V31G	probably benign	Het
Il17rc	T	C	6: 113,459,692 (GRCm39)	V450A	probably damaging	Het
Kbtbd4	T	G	2: 90,736,487 (GRCm39)	V166G	probably benign	Het
Marveld2	T	C	13: 100,748,197 (GRCm39)	N294S	possibly damaging	Het
Mtdh	A	G	15: 34,099,720 (GRCm39)	K61E	probably damaging	Het
Muc5ac	T	C	7: 141,350,104 (GRCm39)	S616P	possibly damaging	Het
Myh15	T	C	16: 48,973,866 (GRCm39)	L1292P	probably damaging	Het
Nek8	C	T	11: 78,058,651 (GRCm39)	V550M	probably benign	Het
Nup155	T	A	15: 8,159,721 (GRCm39)		probably null	Het
Or2y17	G	A	11: 49,231,592 (GRCm39)	V78M	probably damaging	Het
Or7c70	A	T	10: 78,683,572 (GRCm39)	M59K	possibly damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	A	12: 83,831,143 (GRCm39)	W1099*	probably null	Het
Pcdhb17	A	G	18: 37,618,720 (GRCm39)	Y170C	probably damaging	Het
Pramel12	T	C	4: 143,144,229 (GRCm39)	Y192H	probably benign	Het
Prss39	T	G	1: 34,541,783 (GRCm39)	C287G	probably damaging	Het
Pyroxd2	A	G	19: 42,723,911 (GRCm39)	V338A	probably damaging	Het
Rab19	T	A	6: 39,360,860 (GRCm39)	F3I	probably benign	Het
Relt	A	G	7: 100,512,355 (GRCm39)		probably benign	Het
Sbf2	T	A	7: 109,977,193 (GRCm39)	H647L	probably benign	Het
Scube1	C	T	15: 83,513,689 (GRCm39)	C327Y	probably damaging	Het
Sec14l4	A	C	11: 3,990,055 (GRCm39)	Q118P	possibly damaging	Het
Shisa9	C	G	16: 12,085,292 (GRCm39)	D300E	probably benign	Het
Smg1	A	G	7: 117,740,580 (GRCm39)		probably benign	Het
Sncaip	A	G	18: 53,002,393 (GRCm39)	T305A	probably benign	Het
Sorcs3	T	C	19: 48,784,889 (GRCm39)	V1104A	probably damaging	Het
Ugt1a6b	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Unc119b	A	G	5: 115,268,612 (GRCm39)	V91A	probably benign	Het
Uvssa	A	G	5: 33,547,204 (GRCm39)	K257E	probably damaging	Het
Vmn1r199	A	C	13: 22,567,416 (GRCm39)	M237L	probably benign	Het
Vmn1r69	G	A	7: 10,314,417 (GRCm39)	R26W	probably damaging	Het
Vmn2r54	A	G	7: 12,366,143 (GRCm39)	F264L	probably damaging	Het
Vmn2r7	C	T	3: 64,623,464 (GRCm39)	W285*	probably null	Het
Vmn2r78	T	A	7: 86,569,541 (GRCm39)	S145T	possibly damaging	Het
Vmn2r78	T	A	7: 86,604,115 (GRCm39)	N764K	probably benign	Het
Wdr5b	T	G	16: 35,862,374 (GRCm39)	H164Q	probably damaging	Het
Zcchc7	G	A	4: 44,894,982 (GRCm39)	V236I	possibly damaging	Het
Zfp729b	G	A	13: 67,739,740 (GRCm39)	R842C	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
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
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'- GGGAATTTGTGTAAGAACATCCAAC -3'
(R):5'- TGTGTTCCATGTCCCCAACG -3'

Sequencing Primer
(F):5'- GTGTAAGAACATCCAACGACTTGGC -3'
(R):5'- CTTCTCGTTGGAATGTACAG -3'

Posted On

2017-06-27