Incidental Mutation 'R6381:Hdac4'
| ID |
515294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac4
|
| Ensembl Gene |
ENSMUSG00000026313 |
| Gene Name |
histone deacetylase 4 |
| Synonyms |
4932408F19Rik |
| MMRRC Submission |
044530-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6381 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91856501-92123421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 91912247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 381
(Q381K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
|
| AlphaFold |
Q6NZM9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008995
AA Change: Q381K
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: Q381K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HDAC4_Gln
|
61 |
151 |
5e-38 |
PFAM |
|
low complexity region
|
289 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
575 |
N/A |
INTRINSIC |
|
Pfam:Hist_deacetyl
|
661 |
985 |
1.4e-85 |
PFAM |
|
low complexity region
|
1066 |
1075 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097644
AA Change: Q381K
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194827
|
| Meta Mutation Damage Score |
0.0954 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased thermal nociception threshold and seizures. Mice homozygous for a knock-out allele exhibit postnatal lethality, exencephaly, and abnormal skeleton morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,788 (GRCm39) |
M365L |
probably damaging |
Het |
| Aars2 |
A |
G |
17: 45,829,471 (GRCm39) |
E786G |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,257,080 (GRCm39) |
V478F |
possibly damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,624,183 (GRCm39) |
D12E |
probably damaging |
Het |
| Aplf |
A |
T |
6: 87,635,959 (GRCm39) |
M118K |
probably damaging |
Het |
| Apobec1 |
A |
G |
6: 122,555,890 (GRCm39) |
L189P |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,741,713 (GRCm39) |
Q152R |
possibly damaging |
Het |
| Bche |
A |
G |
3: 73,609,132 (GRCm39) |
I98T |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,873,118 (GRCm39) |
R983L |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,816,149 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
G |
T |
18: 60,944,435 (GRCm39) |
C215F |
probably damaging |
Het |
| Cep97 |
C |
T |
16: 55,742,534 (GRCm39) |
A138T |
probably damaging |
Het |
| Ces1e |
T |
A |
8: 93,944,206 (GRCm39) |
N204I |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,662,721 (GRCm39) |
D1620G |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,020,011 (GRCm39) |
V12A |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,384,503 (GRCm39) |
|
probably null |
Het |
| Elapor1 |
T |
C |
3: 108,389,130 (GRCm39) |
K222E |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Entr1 |
A |
G |
2: 26,275,093 (GRCm39) |
|
probably null |
Het |
| Gm10570 |
G |
T |
4: 130,202,021 (GRCm39) |
|
probably benign |
Het |
| Gm7145 |
C |
T |
1: 117,913,669 (GRCm39) |
Q184* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gtse1 |
G |
A |
15: 85,746,349 (GRCm39) |
R55H |
probably benign |
Het |
| Ifit3b |
T |
C |
19: 34,589,871 (GRCm39) |
I349T |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 138,980,589 (GRCm39) |
D9V |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,265,405 (GRCm39) |
N937S |
possibly damaging |
Het |
| Kcna4 |
T |
C |
2: 107,125,317 (GRCm39) |
M17T |
probably benign |
Het |
| Lipa |
T |
A |
19: 34,502,146 (GRCm39) |
M33L |
probably benign |
Het |
| Marchf6 |
G |
T |
15: 31,467,838 (GRCm39) |
Q790K |
probably benign |
Het |
| Mccc1 |
G |
A |
3: 36,030,876 (GRCm39) |
P397S |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,202,138 (GRCm39) |
I196V |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,921,844 (GRCm39) |
S463R |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,500,220 (GRCm39) |
K291E |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,369,138 (GRCm39) |
T294A |
probably damaging |
Het |
| Nkx1-1 |
T |
C |
5: 33,591,320 (GRCm39) |
M1V |
probably null |
Het |
| Or2h2 |
C |
T |
17: 37,396,977 (GRCm39) |
V27I |
probably benign |
Het |
| Pla2g4c |
C |
T |
7: 13,077,933 (GRCm39) |
T357I |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,023 (GRCm39) |
E242G |
probably benign |
Het |
| Rnase12 |
A |
C |
14: 51,294,551 (GRCm39) |
Y43D |
probably damaging |
Het |
| Rpl18 |
T |
A |
7: 45,369,016 (GRCm39) |
F58I |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 28,774,682 (GRCm39) |
M2313L |
possibly damaging |
Het |
| Scn4a |
G |
T |
11: 106,211,137 (GRCm39) |
Q1627K |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,366,722 (GRCm39) |
S640G |
probably benign |
Het |
| Sdr9c7 |
T |
A |
10: 127,739,542 (GRCm39) |
M219K |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,263,373 (GRCm39) |
M392K |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,832,559 (GRCm39) |
K337N |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,417,003 (GRCm39) |
V325A |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,674,588 (GRCm39) |
E342G |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,661,799 (GRCm39) |
L37* |
probably null |
Het |
| Tep1 |
T |
C |
14: 51,082,888 (GRCm39) |
D1040G |
probably damaging |
Het |
| Tmc8 |
A |
T |
11: 117,682,426 (GRCm39) |
S613C |
probably null |
Het |
| Top3a |
C |
T |
11: 60,634,849 (GRCm39) |
C660Y |
probably damaging |
Het |
| Tpsg1 |
C |
T |
17: 25,591,543 (GRCm39) |
R48C |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,078,242 (GRCm39) |
N72S |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,390,921 (GRCm39) |
T269I |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,286,969 (GRCm39) |
Y173* |
probably null |
Het |
|
| Other mutations in Hdac4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01324:Hdac4
|
APN |
1 |
91,887,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01396:Hdac4
|
APN |
1 |
91,887,196 (GRCm39) |
splice site |
probably benign |
|
|
IGL01536:Hdac4
|
APN |
1 |
91,857,868 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01860:Hdac4
|
APN |
1 |
91,861,417 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02110:Hdac4
|
APN |
1 |
91,912,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02201:Hdac4
|
APN |
1 |
91,915,382 (GRCm39) |
splice site |
probably null |
|
|
IGL02294:Hdac4
|
APN |
1 |
91,909,929 (GRCm39) |
missense |
probably benign |
|
|
IGL02367:Hdac4
|
APN |
1 |
91,886,171 (GRCm39) |
splice site |
probably benign |
|
|
IGL02429:Hdac4
|
APN |
1 |
91,940,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02966:Hdac4
|
APN |
1 |
91,982,667 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03250:Hdac4
|
APN |
1 |
91,862,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0067:Hdac4
|
UTSW |
1 |
91,957,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Hdac4
|
UTSW |
1 |
91,903,366 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0288:Hdac4
|
UTSW |
1 |
91,898,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Hdac4
|
UTSW |
1 |
91,883,760 (GRCm39) |
splice site |
probably benign |
|
|
R1473:Hdac4
|
UTSW |
1 |
91,957,690 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1732:Hdac4
|
UTSW |
1 |
91,875,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1826:Hdac4
|
UTSW |
1 |
91,912,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1987:Hdac4
|
UTSW |
1 |
91,862,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2189:Hdac4
|
UTSW |
1 |
91,903,244 (GRCm39) |
missense |
probably null |
0.00 |
|
R2384:Hdac4
|
UTSW |
1 |
91,912,207 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3705:Hdac4
|
UTSW |
1 |
91,862,416 (GRCm39) |
splice site |
probably benign |
|
|
R3894:Hdac4
|
UTSW |
1 |
91,898,690 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4440:Hdac4
|
UTSW |
1 |
91,873,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Hdac4
|
UTSW |
1 |
91,923,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5431:Hdac4
|
UTSW |
1 |
91,900,512 (GRCm39) |
nonsense |
probably null |
|
|
R5505:Hdac4
|
UTSW |
1 |
91,903,187 (GRCm39) |
missense |
probably benign |
|
|
R5854:Hdac4
|
UTSW |
1 |
91,887,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Hdac4
|
UTSW |
1 |
91,886,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Hdac4
|
UTSW |
1 |
91,957,876 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6239:Hdac4
|
UTSW |
1 |
91,982,694 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6247:Hdac4
|
UTSW |
1 |
91,940,560 (GRCm39) |
splice site |
probably null |
|
|
R6306:Hdac4
|
UTSW |
1 |
91,923,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6450:Hdac4
|
UTSW |
1 |
91,912,433 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6504:Hdac4
|
UTSW |
1 |
91,896,177 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6639:Hdac4
|
UTSW |
1 |
91,898,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6799:Hdac4
|
UTSW |
1 |
91,929,935 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6910:Hdac4
|
UTSW |
1 |
91,909,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7002:Hdac4
|
UTSW |
1 |
91,896,083 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7781:Hdac4
|
UTSW |
1 |
91,903,387 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7966:Hdac4
|
UTSW |
1 |
91,861,402 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8156:Hdac4
|
UTSW |
1 |
91,886,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8732:Hdac4
|
UTSW |
1 |
91,875,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Hdac4
|
UTSW |
1 |
91,873,757 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9129:Hdac4
|
UTSW |
1 |
91,909,929 (GRCm39) |
missense |
probably benign |
|
|
R9167:Hdac4
|
UTSW |
1 |
91,875,256 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9243:Hdac4
|
UTSW |
1 |
91,900,512 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9243:Hdac4
|
UTSW |
1 |
91,900,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9255:Hdac4
|
UTSW |
1 |
91,889,173 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9503:Hdac4
|
UTSW |
1 |
91,929,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9600:Hdac4
|
UTSW |
1 |
91,889,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Hdac4
|
UTSW |
1 |
91,915,333 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Hdac4
|
UTSW |
1 |
91,883,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGAGATCTCCTTGTGGTTC -3'
(R):5'- TGACTCGAGAAGGCTCAGTC -3'
Sequencing Primer
(F):5'- CTTACCTGTGACAAGGGGTG -3'
(R):5'- ATCCTTACCCAACATCACCTTGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation