Incidental Mutation 'IGL03265:Hey1'
ID |
415062 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL03265
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
8728419-8732098 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8729974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 161
(Y161C)
|
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: Y161C
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000038014 Gene: ENSMUSG00000040289 AA Change: Y161C
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 |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
C |
A |
11: 109,943,929 (GRCm39) |
M1113I |
probably benign |
Het |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Akr1a1 |
A |
G |
4: 116,495,014 (GRCm39) |
M286T |
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,469,117 (GRCm39) |
S1575G |
probably damaging |
Het |
Apba2 |
A |
G |
7: 64,345,071 (GRCm39) |
D87G |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,854,439 (GRCm39) |
F1641S |
probably benign |
Het |
Atad2b |
T |
A |
12: 5,074,628 (GRCm39) |
H1062Q |
probably benign |
Het |
Bivm |
A |
G |
1: 44,181,005 (GRCm39) |
R396G |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,102,140 (GRCm39) |
D4777E |
probably benign |
Het |
Bmi1 |
T |
A |
2: 18,686,672 (GRCm39) |
M17K |
possibly damaging |
Het |
Bptf |
T |
C |
11: 106,945,454 (GRCm39) |
N2480S |
probably benign |
Het |
Cacna2d3 |
T |
C |
14: 28,674,243 (GRCm39) |
E944G |
probably damaging |
Het |
Ces2a |
C |
T |
8: 105,464,075 (GRCm39) |
H236Y |
possibly damaging |
Het |
Dnah7a |
T |
C |
1: 53,568,007 (GRCm39) |
D1863G |
probably benign |
Het |
Dnajc17 |
C |
A |
2: 119,016,199 (GRCm39) |
E91D |
probably benign |
Het |
Dus2 |
C |
A |
8: 106,760,423 (GRCm39) |
|
probably benign |
Het |
Epha6 |
T |
C |
16: 59,880,594 (GRCm39) |
|
probably benign |
Het |
Erap1 |
A |
T |
13: 74,812,246 (GRCm39) |
T354S |
probably damaging |
Het |
Fbxo11 |
T |
C |
17: 88,300,259 (GRCm39) |
H851R |
probably damaging |
Het |
Gm20532 |
G |
A |
2: 26,522,696 (GRCm39) |
C90Y |
unknown |
Het |
Gpr21 |
T |
C |
2: 37,408,086 (GRCm39) |
Y211H |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,398,002 (GRCm39) |
|
probably benign |
Het |
Hephl1 |
G |
A |
9: 14,972,255 (GRCm39) |
T895I |
probably benign |
Het |
Kdr |
A |
G |
5: 76,121,433 (GRCm39) |
Y526H |
probably damaging |
Het |
Lpp |
A |
G |
16: 24,580,737 (GRCm39) |
Y151C |
probably damaging |
Het |
Macc1 |
A |
G |
12: 119,410,711 (GRCm39) |
N493S |
probably benign |
Het |
Or2t45 |
T |
C |
11: 58,669,697 (GRCm39) |
V248A |
probably damaging |
Het |
Or52s6 |
C |
A |
7: 103,091,655 (GRCm39) |
R225L |
probably benign |
Het |
Or5m10b |
T |
A |
2: 85,699,494 (GRCm39) |
M186K |
possibly damaging |
Het |
Or5t16 |
T |
A |
2: 86,819,424 (GRCm39) |
Y32F |
probably damaging |
Het |
Or6c1b |
A |
T |
10: 129,272,794 (GRCm39) |
T38S |
possibly damaging |
Het |
Pcdhb21 |
A |
G |
18: 37,648,206 (GRCm39) |
D445G |
probably damaging |
Het |
Prkra |
T |
C |
2: 76,470,614 (GRCm39) |
N123D |
probably benign |
Het |
Slc25a33 |
A |
C |
4: 149,846,893 (GRCm39) |
L56R |
probably damaging |
Het |
Usp36 |
A |
G |
11: 118,155,635 (GRCm39) |
V714A |
possibly damaging |
Het |
Vmn1r174 |
T |
A |
7: 23,453,898 (GRCm39) |
L188* |
probably null |
Het |
Vmn2r12 |
A |
G |
5: 109,239,936 (GRCm39) |
V209A |
probably benign |
Het |
Zfp809 |
A |
G |
9: 22,154,339 (GRCm39) |
Y352C |
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 |
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 |
|
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 |
|
Posted On |
2016-08-02 |