Incidental Mutation 'R2449:Hey2'
| ID |
248943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hey2
|
| Ensembl Gene |
ENSMUSG00000019789 |
| Gene Name |
hairy/enhancer-of-split related with YRPW motif 2 |
| Synonyms |
Herp1, bHLHb32, CHF1, Hesr2, Hrt2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.927)
|
| Stock # |
R2449 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
30708355-30718779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30716442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 64
(I64K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019924]
|
| AlphaFold |
Q9QUS4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019924
AA Change: I64K
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000019924
Gene: ENSMUSG00000019789
AA Change: I64K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
17 |
N/A |
INTRINSIC |
|
HLH
|
54 |
109 |
6.71e-16 |
SMART |
|
ORANGE
|
119 |
166 |
5.55e-18 |
SMART |
|
low complexity region
|
174 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
293 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217504
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac hypertrophy, ventricular septal defects, pulmonary and liver congestion, and reduced preweaning viability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Cd83 |
A |
T |
13: 43,951,132 (GRCm39) |
T95S |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,396,464 (GRCm39) |
D819G |
probably benign |
Het |
| Il10rb |
A |
G |
16: 91,208,791 (GRCm39) |
H67R |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,599,094 (GRCm39) |
|
probably null |
Het |
| Lhx1 |
G |
A |
11: 84,412,564 (GRCm39) |
R119C |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or12j2 |
A |
T |
7: 139,916,345 (GRCm39) |
Q190L |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,920,645 (GRCm39) |
T720A |
probably benign |
Het |
| Sycp1 |
T |
C |
3: 102,832,522 (GRCm39) |
I215V |
probably benign |
Het |
| Trim63 |
A |
G |
4: 134,050,418 (GRCm39) |
E234G |
probably damaging |
Het |
| Vmn2r56 |
C |
T |
7: 12,428,082 (GRCm39) |
S728N |
possibly damaging |
Het |
| Wdr64 |
A |
T |
1: 175,526,479 (GRCm39) |
I43L |
probably benign |
Het |
| Wsb1 |
T |
C |
11: 79,131,178 (GRCm39) |
K406R |
probably benign |
Het |
|
| Other mutations in Hey2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01681:Hey2
|
APN |
10 |
30,710,133 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02525:Hey2
|
APN |
10 |
30,718,643 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R0167:Hey2
|
UTSW |
10 |
30,716,661 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0279:Hey2
|
UTSW |
10 |
30,710,006 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0553:Hey2
|
UTSW |
10 |
30,716,485 (GRCm39) |
splice site |
probably benign |
|
|
R0592:Hey2
|
UTSW |
10 |
30,709,953 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0621:Hey2
|
UTSW |
10 |
30,710,382 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1437:Hey2
|
UTSW |
10 |
30,709,845 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1457:Hey2
|
UTSW |
10 |
30,710,352 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4721:Hey2
|
UTSW |
10 |
30,710,304 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4755:Hey2
|
UTSW |
10 |
30,710,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4828:Hey2
|
UTSW |
10 |
30,710,179 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5419:Hey2
|
UTSW |
10 |
30,710,019 (GRCm39) |
missense |
probably benign |
|
|
R6927:Hey2
|
UTSW |
10 |
30,710,413 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7079:Hey2
|
UTSW |
10 |
30,710,382 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8196:Hey2
|
UTSW |
10 |
30,710,273 (GRCm39) |
missense |
probably benign |
|
|
R8238:Hey2
|
UTSW |
10 |
30,716,659 (GRCm39) |
missense |
probably benign |
|
|
R8381:Hey2
|
UTSW |
10 |
30,709,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8383:Hey2
|
UTSW |
10 |
30,716,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8730:Hey2
|
UTSW |
10 |
30,718,622 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9674:Hey2
|
UTSW |
10 |
30,710,413 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9747:Hey2
|
UTSW |
10 |
30,709,824 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCTACGCCGGATCAGAG -3'
(R):5'- TGAGGTCCAATTCACCGACAAC -3'
Sequencing Primer
(F):5'- TACGCCGGATCAGAGTGTGC -3'
(R):5'- ACTACCTCTCAGATTATGGCAAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation