Incidental Mutation 'R2415:Hdac1'
| ID |
248961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac1
|
| Ensembl Gene |
ENSMUSG00000028800 |
| Gene Name |
histone deacetylase 1 |
| Synonyms |
HD1, RPD3, MommeD5 |
| MMRRC Submission |
040379-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2415 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
129409897-129436506 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 129416754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102597]
|
| AlphaFold |
O09106 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102597
|
| SMART Domains |
Protein: ENSMUSP00000099657
Gene: ENSMUSG00000028800
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
18 |
320 |
5.3e-86 |
PFAM |
|
low complexity region
|
390 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150105
|
| Meta Mutation Damage Score |
0.9600 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos between E9.5 and E10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano6 |
A |
T |
15: 95,860,161 (GRCm39) |
N761I |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,985,077 (GRCm39) |
S55P |
probably damaging |
Het |
| Cul9 |
T |
A |
17: 46,854,364 (GRCm39) |
T113S |
probably benign |
Het |
| Ddx56 |
G |
A |
11: 6,211,727 (GRCm39) |
|
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,186 (GRCm39) |
V467A |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,770,124 (GRCm39) |
F62I |
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,347,175 (GRCm39) |
M567K |
probably damaging |
Het |
| Fbxw21 |
G |
T |
9: 108,985,469 (GRCm39) |
A103E |
possibly damaging |
Het |
| Flnb |
T |
A |
14: 7,929,932 (GRCm38) |
S2021T |
probably benign |
Het |
| Gabpa |
T |
C |
16: 84,641,256 (GRCm39) |
|
probably null |
Het |
| Grid1 |
A |
T |
14: 35,172,326 (GRCm39) |
I611F |
possibly damaging |
Het |
| Kcnk5 |
T |
C |
14: 20,191,880 (GRCm39) |
E427G |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,400,906 (GRCm39) |
T685S |
probably benign |
Het |
| Khdc1b |
A |
G |
1: 21,454,534 (GRCm39) |
D79G |
probably benign |
Het |
| Ky |
G |
T |
9: 102,419,090 (GRCm39) |
G366W |
probably damaging |
Het |
| Limch1 |
T |
C |
5: 67,131,977 (GRCm39) |
S147P |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,305,411 (GRCm39) |
K405E |
probably damaging |
Het |
| Myo15b |
T |
G |
11: 115,770,390 (GRCm39) |
F67V |
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,069,047 (GRCm39) |
D316G |
probably damaging |
Het |
| Nudt12 |
A |
G |
17: 59,313,603 (GRCm39) |
V325A |
probably damaging |
Het |
| Pdia4 |
G |
T |
6: 47,783,490 (GRCm39) |
D184E |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,097,147 (GRCm39) |
F793V |
possibly damaging |
Het |
| Pla1a |
T |
A |
16: 38,228,112 (GRCm39) |
Y255F |
possibly damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,570,626 (GRCm39) |
S269P |
probably benign |
Het |
| S100pbp |
A |
T |
4: 129,075,614 (GRCm39) |
V118D |
possibly damaging |
Het |
| Sec24b |
A |
T |
3: 129,789,729 (GRCm39) |
I764N |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,785,361 (GRCm39) |
|
probably benign |
Het |
| Surf6 |
C |
T |
2: 26,782,274 (GRCm39) |
R351H |
probably damaging |
Het |
| Tspan15 |
A |
G |
10: 62,037,570 (GRCm39) |
I115T |
probably benign |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,431 (GRCm39) |
Y179C |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,403,305 (GRCm39) |
D481G |
probably benign |
Het |
|
| Other mutations in Hdac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03169:Hdac1
|
APN |
4 |
129,412,624 (GRCm39) |
missense |
probably null |
0.08 |
|
R0783:Hdac1
|
UTSW |
4 |
129,411,902 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1771:Hdac1
|
UTSW |
4 |
129,415,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1985:Hdac1
|
UTSW |
4 |
129,422,753 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2119:Hdac1
|
UTSW |
4 |
129,416,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2175:Hdac1
|
UTSW |
4 |
129,428,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Hdac1
|
UTSW |
4 |
129,418,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5243:Hdac1
|
UTSW |
4 |
129,410,646 (GRCm39) |
intron |
probably benign |
|
|
R5276:Hdac1
|
UTSW |
4 |
129,422,716 (GRCm39) |
splice site |
probably null |
|
|
R6274:Hdac1
|
UTSW |
4 |
129,412,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Hdac1
|
UTSW |
4 |
129,436,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7599:Hdac1
|
UTSW |
4 |
129,411,259 (GRCm39) |
nonsense |
probably null |
|
|
R7816:Hdac1
|
UTSW |
4 |
129,411,888 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9169:Hdac1
|
UTSW |
4 |
129,428,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hdac1
|
UTSW |
4 |
129,436,409 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCTGGAGGCAGGATCTTAG -3'
(R):5'- GAACGGCTTAGTAACAGGCTTG -3'
Sequencing Primer
(F):5'- AGGATCTTAGCAGCGCCTG -3'
(R):5'- GCTTAGTAACAGGCTTGTGCTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation