Incidental Mutation 'R3894:Hdac4'
ID |
310427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hdac4
|
Ensembl Gene |
ENSMUSG00000026313 |
Gene Name |
histone deacetylase 4 |
Synonyms |
4932408F19Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3894 (G1)
|
Quality Score |
160 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
91856501-92123421 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91898690 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 688
(E688G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
[ENSMUST00000187308]
|
AlphaFold |
Q6NZM9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008995
AA Change: E688G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000008995 Gene: ENSMUSG00000026313 AA Change: E688G
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: E688G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187308
AA Change: E120G
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140092 Gene: ENSMUSG00000026313 AA Change: E120G
Domain | Start | End | E-Value | Type |
Pfam:Hist_deacetyl
|
93 |
313 |
2.3e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189303
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt1s1 |
A |
G |
7: 44,503,363 (GRCm39) |
D180G |
probably damaging |
Het |
Aldh1a7 |
A |
T |
19: 20,673,762 (GRCm39) |
Y457* |
probably null |
Het |
Alpk3 |
C |
T |
7: 80,728,138 (GRCm39) |
P423S |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,373,837 (GRCm39) |
|
probably null |
Het |
Crebbp |
T |
C |
16: 3,913,966 (GRCm39) |
T1316A |
probably benign |
Het |
Cul3 |
C |
A |
1: 80,261,407 (GRCm39) |
V273F |
probably damaging |
Het |
Dnah1 |
G |
T |
14: 31,028,985 (GRCm39) |
R582S |
probably benign |
Het |
Fbxl2 |
T |
C |
9: 113,832,261 (GRCm39) |
N51S |
probably damaging |
Het |
Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
Gdf7 |
A |
G |
12: 8,348,845 (GRCm39) |
S151P |
unknown |
Het |
Gm10277 |
T |
C |
11: 77,676,827 (GRCm39) |
|
probably benign |
Het |
Htr1d |
A |
G |
4: 136,170,548 (GRCm39) |
E259G |
probably benign |
Het |
Ifi204 |
T |
C |
1: 173,576,774 (GRCm39) |
H609R |
possibly damaging |
Het |
Ift80 |
T |
C |
3: 68,825,332 (GRCm39) |
D541G |
probably damaging |
Het |
Il18r1 |
A |
T |
1: 40,514,034 (GRCm39) |
H80L |
possibly damaging |
Het |
Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
Mesd |
T |
A |
7: 83,546,993 (GRCm39) |
L152H |
probably damaging |
Het |
Mmut |
G |
A |
17: 41,266,030 (GRCm39) |
C531Y |
probably damaging |
Het |
Morf4l1 |
A |
T |
9: 89,976,501 (GRCm39) |
F276I |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,395,145 (GRCm39) |
T2480A |
probably benign |
Het |
Or2a52 |
A |
T |
6: 43,144,192 (GRCm39) |
I67F |
probably benign |
Het |
Or2y15 |
G |
A |
11: 49,350,766 (GRCm39) |
G87R |
possibly damaging |
Het |
Or4f47 |
T |
C |
2: 111,972,359 (GRCm39) |
I23T |
probably benign |
Het |
Or4g17 |
C |
A |
2: 111,209,982 (GRCm39) |
F212L |
probably benign |
Het |
Or5k16 |
A |
G |
16: 58,736,702 (GRCm39) |
F101L |
probably benign |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
Pcbp4 |
A |
T |
9: 106,338,570 (GRCm39) |
Q59L |
possibly damaging |
Het |
Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
Rad50 |
T |
A |
11: 53,569,697 (GRCm39) |
I905L |
probably benign |
Het |
Rp1l1 |
T |
C |
14: 64,266,756 (GRCm39) |
S781P |
probably benign |
Het |
Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
Rtn3 |
T |
A |
19: 7,412,450 (GRCm39) |
T86S |
probably damaging |
Het |
Sdha |
A |
T |
13: 74,482,510 (GRCm39) |
S268T |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
Sh3glb2 |
T |
C |
2: 30,245,300 (GRCm39) |
T60A |
probably damaging |
Het |
Slc26a3 |
A |
C |
12: 31,514,719 (GRCm39) |
Y513S |
probably damaging |
Het |
Slc35b2 |
T |
C |
17: 45,877,368 (GRCm39) |
V165A |
probably benign |
Het |
Slco3a1 |
A |
G |
7: 73,934,361 (GRCm39) |
W604R |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,175,238 (GRCm39) |
S1370P |
possibly damaging |
Het |
Tmtc4 |
A |
T |
14: 123,158,731 (GRCm39) |
|
probably null |
Het |
Tsga13 |
A |
G |
6: 30,889,198 (GRCm39) |
V18A |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,477,449 (GRCm39) |
T317A |
probably benign |
Het |
Zcchc4 |
A |
T |
5: 52,941,442 (GRCm39) |
D79V |
probably damaging |
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 |
|
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 |
R6381:Hdac4
|
UTSW |
1 |
91,912,247 (GRCm39) |
missense |
possibly damaging |
0.67 |
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 |
|
Posted On |
2015-04-17 |