Mutagenetix > Incidental Mutation

Incidental Mutation 'R3941:Hey1'

307435

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

040923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8728419-8732098 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8729638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 273 (L273P)

Ref Sequence

ENSEMBL: ENSMUSP00000038014 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042412
AA Change: L273P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038014
Gene: ENSMUSG00000040289
AA Change: L273P

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,214,263 (GRCm39)	T193S	probably benign	Het
Arhgap11a	A	T	2: 113,667,242 (GRCm39)	L435Q	probably damaging	Het
Bin1	T	C	18: 32,539,211 (GRCm39)	V48A	probably damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Btn1a1	T	G	13: 23,643,434 (GRCm39)	R338S	probably benign	Het
Cacnb4	C	A	2: 52,359,501 (GRCm39)	R169L	probably damaging	Het
Ccdc80	A	G	16: 44,916,455 (GRCm39)	T404A	probably benign	Het
Cd2ap	G	C	17: 43,119,690 (GRCm39)	H488D	probably damaging	Het
Cdon	A	G	9: 35,375,467 (GRCm39)	T498A	probably benign	Het
Cngb3	A	G	4: 19,396,786 (GRCm39)	N380D	probably benign	Het
Col6a5	G	A	9: 105,817,033 (GRCm39)	S426F	unknown	Het
Cr2	A	T	1: 194,848,122 (GRCm39)	H345Q	probably damaging	Het
Cttnbp2	T	A	6: 18,427,452 (GRCm39)	K743M	probably benign	Het
Depdc1b	T	C	13: 108,505,370 (GRCm39)	S245P	probably damaging	Het
Dync2h1	G	A	9: 7,124,825 (GRCm39)	H2016Y	probably benign	Het
Eif2s3y	G	T	Y: 1,012,079 (GRCm39)	R98L	probably benign	Het
Eml6	C	T	11: 29,753,167 (GRCm39)	G915S	probably damaging	Het
Fcgr1	A	G	3: 96,193,349 (GRCm39)	L216P	probably benign	Het
Fpr-rs3	T	C	17: 20,845,111 (GRCm39)	N10S	probably benign	Het
Frem3	T	C	8: 81,341,649 (GRCm39)	I1314T	possibly damaging	Het
Gabrr3	A	G	16: 59,253,864 (GRCm39)	N194D	probably damaging	Het
Irf6	A	G	1: 192,850,857 (GRCm39)	K365E	probably benign	Het
Kit	A	G	5: 75,769,978 (GRCm39)	D130G	probably benign	Het
Lrp1	G	A	10: 127,389,265 (GRCm39)	A3217V	probably damaging	Het
Mei4	C	T	9: 81,809,336 (GRCm39)	R140C	probably benign	Het
Mir100hg	T	C	9: 41,501,570 (GRCm39)	L143P	probably damaging	Het
Mpo	A	T	11: 87,688,175 (GRCm39)	K278M	probably benign	Het
Mprip	T	C	11: 59,622,328 (GRCm39)		probably benign	Het
Mug2	G	C	6: 122,040,522 (GRCm39)	G691R	probably benign	Het
Neto2	G	A	8: 86,400,747 (GRCm39)	T16I	probably damaging	Het
Nipal4	C	T	11: 46,041,473 (GRCm39)	V241M	probably damaging	Het
Nlrp2	A	T	7: 5,330,551 (GRCm39)	L615*	probably null	Het
Pcdh1	A	G	18: 38,332,511 (GRCm39)	V164A	probably benign	Het
Phc2	T	C	4: 128,641,037 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,620,133 (GRCm39)	E623G	probably damaging	Het
Psors1c2	G	T	17: 35,844,825 (GRCm39)	G29*	probably null	Het
Slc25a54	A	T	3: 109,019,479 (GRCm39)	D361V	probably damaging	Het
Slc39a12	A	T	2: 14,400,992 (GRCm39)	H123L	possibly damaging	Het
Sorl1	T	C	9: 41,900,764 (GRCm39)		probably null	Het
Strn	A	T	17: 78,965,369 (GRCm39)	I641N	probably damaging	Het
Tapbp	A	G	17: 34,139,457 (GRCm39)	E151G	possibly damaging	Het
Ticrr	T	C	7: 79,343,445 (GRCm39)		probably benign	Het
Tnfrsf21	G	A	17: 43,348,901 (GRCm39)	C171Y	probably damaging	Het
Ttyh1	T	A	7: 4,132,317 (GRCm39)	L155H	probably damaging	Het
Utrn	T	A	10: 12,587,329 (GRCm39)		probably null	Het
Vmn1r175	A	G	7: 23,508,393 (GRCm39)	V78A	probably benign	Het
Vmn1r73	T	C	7: 11,490,682 (GRCm39)	Y167H	probably damaging	Het
Washc1	T	C	17: 66,425,123 (GRCm39)	S376P	probably damaging	Het
Wnt10a	T	A	1: 74,842,656 (GRCm39)		probably null	Het
Xrcc4	A	G	13: 90,219,752 (GRCm39)	V16A	probably benign	Het
Zeb1	T	C	18: 5,767,799 (GRCm39)	V770A	probably benign	Het
Zfp410	A	G	12: 84,385,527 (GRCm39)	N90S	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
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
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'- ACTTACTGGCGACTTTAGGGTG -3'
(R):5'- GAAGTGCCTTCGGACATCAC -3'

Sequencing Primer
(F):5'- TGGTGTTGACAACCGTCC -3'
(R):5'- TCTGCTGCTGCCCCAGAATG -3'

Posted On

2015-04-17