Incidental Mutation 'R0288:Hdac4'
| ID |
24713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac4
|
| Ensembl Gene |
ENSMUSG00000026313 |
| Gene Name |
histone deacetylase 4 |
| Synonyms |
4932408F19Rik |
| MMRRC Submission |
038507-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0288 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91856501-92123421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91898728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 675
(H675Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
[ENSMUST00000187308]
|
| AlphaFold |
Q6NZM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008995
AA Change: H675Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: H675Q
| 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 |
probably damaging
Transcript: ENSMUST00000097644
AA Change: H675Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187308
AA Change: H107Q
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140092
Gene: ENSMUSG00000026313
AA Change: H107Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
93 |
313 |
2.3e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194827
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.7%
|
| Validation Efficiency |
98% (62/63) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
G |
8: 95,766,568 (GRCm39) |
E413G |
possibly damaging |
Het |
| Amigo2 |
G |
T |
15: 97,143,560 (GRCm39) |
N287K |
probably damaging |
Het |
| Ankle2 |
T |
A |
5: 110,384,256 (GRCm39) |
I260K |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,040,779 (GRCm39) |
R635* |
probably null |
Het |
| Camkv |
A |
G |
9: 107,823,555 (GRCm39) |
Y153C |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,327,230 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
A |
G |
8: 105,576,376 (GRCm39) |
I130V |
probably benign |
Het |
| Cfap44 |
T |
A |
16: 44,236,257 (GRCm39) |
|
probably benign |
Het |
| Cfhr3 |
A |
G |
1: 139,525,425 (GRCm39) |
|
noncoding transcript |
Het |
| Chmp1a |
G |
T |
8: 123,934,745 (GRCm39) |
D70E |
probably damaging |
Het |
| Coil |
G |
A |
11: 88,872,694 (GRCm39) |
G352R |
probably damaging |
Het |
| Colq |
T |
C |
14: 31,265,949 (GRCm39) |
E188G |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,144,799 (GRCm39) |
F685S |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,711,410 (GRCm39) |
N519S |
probably benign |
Het |
| Dennd1c |
A |
T |
17: 57,383,870 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
T |
11: 65,915,960 (GRCm39) |
|
probably null |
Het |
| Dnmbp |
T |
C |
19: 43,890,898 (GRCm39) |
T290A |
possibly damaging |
Het |
| Dsc2 |
T |
C |
18: 20,166,177 (GRCm39) |
D818G |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,268,967 (GRCm39) |
V557I |
probably benign |
Het |
| Kcnk3 |
T |
C |
5: 30,745,764 (GRCm39) |
M35T |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,283,795 (GRCm39) |
I1290N |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,698,620 (GRCm39) |
R398W |
probably damaging |
Het |
| Marveld1 |
T |
C |
19: 42,136,265 (GRCm39) |
F60L |
probably damaging |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Ndst3 |
A |
T |
3: 123,465,843 (GRCm39) |
V43D |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,399,794 (GRCm39) |
D306G |
probably damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,331,544 (GRCm39) |
V284A |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,451 (GRCm39) |
V561A |
probably damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,460,344 (GRCm39) |
I177V |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,373,131 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
A |
C |
15: 79,171,106 (GRCm39) |
|
probably benign |
Het |
| Plekhj1 |
A |
T |
10: 80,632,444 (GRCm39) |
I122N |
probably damaging |
Het |
| Pmel |
T |
C |
10: 128,550,175 (GRCm39) |
I70T |
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,383,196 (GRCm39) |
D273G |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,816,021 (GRCm39) |
I1098V |
probably benign |
Het |
| Rif1 |
T |
C |
2: 52,000,025 (GRCm39) |
S1160P |
probably damaging |
Het |
| Rsbn1l |
T |
C |
5: 21,125,038 (GRCm39) |
I255V |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 137,994,914 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
G |
A |
17: 45,900,730 (GRCm39) |
R111W |
probably damaging |
Het |
| Slc36a1 |
G |
A |
11: 55,109,913 (GRCm39) |
A74T |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,600,046 (GRCm39) |
Y122* |
probably null |
Het |
| Slc6a3 |
G |
T |
13: 73,709,047 (GRCm39) |
G324W |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,486,633 (GRCm39) |
S433P |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,070,745 (GRCm39) |
S2190P |
probably damaging |
Het |
| Sry |
A |
T |
Y: 2,662,818 (GRCm39) |
F281I |
unknown |
Het |
| Stk32a |
T |
A |
18: 43,438,060 (GRCm39) |
|
probably null |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
G |
A |
17: 24,920,781 (GRCm39) |
H612Y |
probably damaging |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
G |
11: 98,907,249 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,333,606 (GRCm39) |
|
probably benign |
Het |
| Vldlr |
G |
A |
19: 27,218,051 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,020 (GRCm39) |
L409P |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,834,648 (GRCm39) |
V1659A |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zfp280d |
A |
T |
9: 72,238,621 (GRCm39) |
K646* |
probably null |
Het |
| Zfp36 |
A |
G |
7: 28,077,666 (GRCm39) |
S81P |
probably benign |
Het |
| Zfp618 |
A |
T |
4: 63,051,171 (GRCm39) |
T651S |
possibly 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 |
|
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 |
|
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 |
PCR Primer
(F):5'- AGCTCACACAGCAAGCTGTCTC -3'
(R):5'- CAAGAACCAGTTCTGCTCTGTTCCC -3'
Sequencing Primer
(F):5'- acagcaatagaaaaggaaccaag -3'
(R):5'- TGACTTAGCTCTGCTCCACT -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation