Incidental Mutation 'R6018:Hdac4'
| ID |
478685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac4
|
| Ensembl Gene |
ENSMUSG00000026313 |
| Gene Name |
histone deacetylase 4 |
| Synonyms |
4932408F19Rik |
| MMRRC Submission |
044192-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6018 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
91856501-92123421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91886120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 254
(L254P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
[ENSMUST00000187308]
|
| AlphaFold |
Q6NZM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008995
AA Change: L817P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: L817P
| 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: L817P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187308
AA Change: L254P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140092
Gene: ENSMUSG00000026313
AA Change: L254P
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.6%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,210,448 (GRCm39) |
Y155N |
probably damaging |
Het |
| 1700019A02Rik |
C |
T |
1: 53,202,405 (GRCm39) |
|
probably null |
Het |
| 2310022B05Rik |
A |
G |
8: 125,365,853 (GRCm39) |
F297L |
probably benign |
Het |
| Acbd3 |
T |
C |
1: 180,579,903 (GRCm39) |
S516P |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,190 (GRCm39) |
N227S |
probably damaging |
Het |
| Ak6 |
C |
T |
13: 100,802,459 (GRCm39) |
Q151* |
probably null |
Het |
| Ano4 |
A |
G |
10: 88,865,128 (GRCm39) |
L297P |
probably benign |
Het |
| Anxa5 |
T |
C |
3: 36,504,807 (GRCm39) |
T252A |
probably benign |
Het |
| Ap5s1 |
G |
A |
2: 131,054,915 (GRCm39) |
W212* |
probably null |
Het |
| Arl9 |
A |
G |
5: 77,155,253 (GRCm39) |
Q113R |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,627,430 (GRCm39) |
H519R |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,125,579 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
G |
A |
10: 98,846,622 (GRCm39) |
A808T |
probably damaging |
Het |
| Bckdhb |
C |
A |
9: 83,951,237 (GRCm39) |
T342K |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,174,732 (GRCm39) |
H1996R |
probably benign |
Het |
| Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,926,235 (GRCm39) |
I1148M |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 125,937,414 (GRCm39) |
M766K |
probably benign |
Het |
| Ctnnd1 |
T |
A |
2: 84,480,812 (GRCm39) |
|
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,499,436 (GRCm39) |
N41I |
probably damaging |
Het |
| D2hgdh |
G |
T |
1: 93,754,182 (GRCm39) |
V52L |
probably benign |
Het |
| Dppa4 |
T |
A |
16: 48,109,490 (GRCm39) |
Y77* |
probably null |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,481 (GRCm39) |
S770P |
probably damaging |
Het |
| Fbxl16 |
A |
T |
17: 26,036,709 (GRCm39) |
D230V |
probably damaging |
Het |
| Gm4847 |
G |
A |
1: 166,471,017 (GRCm39) |
A11V |
probably damaging |
Het |
| Gm9978 |
C |
T |
10: 78,322,915 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch8 |
A |
G |
11: 102,371,741 (GRCm39) |
L599P |
unknown |
Het |
| Heatr1 |
A |
G |
13: 12,419,828 (GRCm39) |
I384V |
probably benign |
Het |
| Heatr1 |
A |
T |
13: 12,420,939 (GRCm39) |
Q410L |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,260,804 (GRCm39) |
I1065V |
probably benign |
Het |
| Igkv6-14 |
A |
G |
6: 70,412,024 (GRCm39) |
S87P |
probably damaging |
Het |
| Il2rb |
G |
T |
15: 78,366,266 (GRCm39) |
Q344K |
possibly damaging |
Het |
| Ipo4 |
A |
G |
14: 55,863,609 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
A |
G |
1: 135,318,274 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
T |
C |
4: 129,613,887 (GRCm39) |
T374A |
probably benign |
Het |
| Lamc3 |
G |
T |
2: 31,795,724 (GRCm39) |
G370W |
probably damaging |
Het |
| Lipn |
T |
A |
19: 34,054,335 (GRCm39) |
L191Q |
probably damaging |
Het |
| Lpl |
T |
C |
8: 69,353,940 (GRCm39) |
V427A |
probably benign |
Het |
| Magi3 |
T |
C |
3: 104,013,128 (GRCm39) |
S120G |
probably damaging |
Het |
| Mgl2 |
T |
C |
11: 70,027,937 (GRCm39) |
*382Q |
probably null |
Het |
| Nab2 |
G |
A |
10: 127,500,793 (GRCm39) |
Q100* |
probably null |
Het |
| Nfat5 |
T |
A |
8: 108,082,283 (GRCm39) |
|
probably null |
Het |
| Nqo1 |
T |
C |
8: 108,115,500 (GRCm39) |
H259R |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,870,944 (GRCm39) |
D190E |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,815,148 (GRCm39) |
|
probably benign |
Het |
| Osmr |
G |
A |
15: 6,845,276 (GRCm39) |
P830L |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
| Pde11a |
T |
A |
2: 75,848,194 (GRCm39) |
M878L |
probably benign |
Het |
| Pik3ap1 |
T |
C |
19: 41,373,455 (GRCm39) |
|
probably benign |
Het |
| Pla2g3 |
T |
C |
11: 3,441,916 (GRCm39) |
L360P |
probably damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,779,710 (GRCm39) |
V244A |
probably benign |
Het |
| Pramel16 |
C |
T |
4: 143,677,469 (GRCm39) |
A37T |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 130,345,422 (GRCm39) |
V8A |
probably benign |
Het |
| Rbbp5 |
T |
C |
1: 132,422,078 (GRCm39) |
V199A |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,423,059 (GRCm39) |
V7A |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,720,889 (GRCm39) |
T1347A |
probably benign |
Het |
| Sgo2a |
T |
A |
1: 58,056,118 (GRCm39) |
H767Q |
probably benign |
Het |
| Sis |
G |
A |
3: 72,820,525 (GRCm39) |
P1413L |
possibly damaging |
Het |
| Slc22a5 |
G |
T |
11: 53,766,846 (GRCm39) |
A214E |
probably damaging |
Het |
| Snx13 |
G |
T |
12: 35,097,318 (GRCm39) |
|
probably benign |
Het |
| Sun5 |
T |
A |
2: 153,700,363 (GRCm39) |
I295F |
probably damaging |
Het |
| Themis3 |
C |
T |
17: 66,900,204 (GRCm39) |
A55T |
probably damaging |
Het |
| Tmem255b |
T |
C |
8: 13,505,138 (GRCm39) |
Y148H |
probably benign |
Het |
| Tmem74b |
A |
G |
2: 151,548,639 (GRCm39) |
E122G |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,710,756 (GRCm39) |
V862A |
probably damaging |
Het |
| Trim35 |
A |
T |
14: 66,546,199 (GRCm39) |
D322V |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,753,547 (GRCm39) |
F1319S |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,785,020 (GRCm39) |
R756S |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,268 (GRCm39) |
N645K |
possibly damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,521,875 (GRCm39) |
S155P |
possibly damaging |
Het |
| Vstm4 |
G |
A |
14: 32,585,627 (GRCm39) |
A65T |
probably benign |
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 |
|
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'- GCTGGCCAAAGTCTTGAAACC -3'
(R):5'- TCACCACCATCACTTGAGGTCC -3'
Sequencing Primer
(F):5'- CAACTTCTAATGGATGCAGGC -3'
(R):5'- CATCACTTGAGGTCCGCAGAAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation