Incidental Mutation 'R8156:Hdac4'
| ID |
633298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac4
|
| Ensembl Gene |
ENSMUSG00000026313 |
| Gene Name |
histone deacetylase 4 |
| Synonyms |
4932408F19Rik |
| MMRRC Submission |
067582-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8156 (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 91886138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 811
(A811E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
[ENSMUST00000187308]
|
| AlphaFold |
Q6NZM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008995
AA Change: A811E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: A811E
| 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: A811E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187308
AA Change: A248E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140092
Gene: ENSMUSG00000026313
AA Change: A248E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
93 |
313 |
2.3e-61 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
95% (40/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
T |
C |
11: 120,489,074 (GRCm39) |
R31G |
probably benign |
Het |
| Arfgef2 |
GTGTGCAGAAACT |
GT |
2: 166,676,383 (GRCm39) |
92 |
probably null |
Het |
| Arhgap31 |
G |
T |
16: 38,445,991 (GRCm39) |
A118E |
probably damaging |
Het |
| Asb5 |
T |
A |
8: 55,003,541 (GRCm39) |
I21K |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,546,760 (GRCm39) |
I515V |
probably benign |
Het |
| Bend7 |
C |
T |
2: 4,757,665 (GRCm39) |
P236S |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,566,824 (GRCm39) |
T351A |
probably benign |
Het |
| Cd1d2 |
T |
A |
3: 86,894,569 (GRCm39) |
|
probably null |
Het |
| Chd1 |
T |
A |
17: 15,981,666 (GRCm39) |
D1368E |
probably benign |
Het |
| Chrnb3 |
A |
G |
8: 27,883,682 (GRCm39) |
I140V |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,817,825 (GRCm39) |
D65G |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,432,625 (GRCm39) |
T843A |
possibly damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,986,317 (GRCm39) |
|
probably null |
Het |
| Dop1a |
A |
G |
9: 86,376,510 (GRCm39) |
D248G |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,723,388 (GRCm39) |
C197* |
probably null |
Het |
| Flg2 |
T |
C |
3: 93,127,390 (GRCm39) |
S2101P |
unknown |
Het |
| Foxg1 |
A |
G |
12: 49,431,429 (GRCm39) |
H54R |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr35 |
A |
G |
1: 92,910,437 (GRCm39) |
T50A |
probably damaging |
Het |
| Gsta3 |
A |
T |
1: 21,330,322 (GRCm39) |
Y108F |
probably benign |
Het |
| Hephl1 |
A |
T |
9: 14,972,210 (GRCm39) |
V910E |
possibly damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,780,280 (GRCm39) |
Y384F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,733,686 (GRCm39) |
I2210M |
unknown |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,992,196 (GRCm39) |
|
probably null |
Het |
| Lsm4 |
G |
A |
8: 71,131,018 (GRCm39) |
G112S |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,464,554 (GRCm39) |
|
probably null |
Het |
| Ndor1 |
T |
C |
2: 25,138,746 (GRCm39) |
R396G |
probably benign |
Het |
| Or10ag56 |
A |
C |
2: 87,139,318 (GRCm39) |
I82L |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Prdm2 |
A |
G |
4: 142,861,338 (GRCm39) |
S651P |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,909,172 (GRCm39) |
M91V |
probably benign |
Het |
| Pskh1 |
G |
A |
8: 106,640,226 (GRCm39) |
R302H |
probably benign |
Het |
| Rab11fip4 |
A |
G |
11: 79,577,415 (GRCm39) |
T390A |
probably benign |
Het |
| Snx10 |
T |
C |
6: 51,538,999 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
T |
C |
10: 23,847,393 (GRCm39) |
C264R |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,737,138 (GRCm39) |
C1438R |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,173,486 (GRCm39) |
T3A |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,609,975 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
A |
G |
9: 114,342,192 (GRCm39) |
S697P |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,269,057 (GRCm39) |
D258G |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,183 (GRCm39) |
Y9H |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,099,115 (GRCm39) |
H373L |
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 |
|
|
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 |
|
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'- TCCTCAATTCCAAGTATCAACAGG -3'
(R):5'- TGCTTCTGTGCCTGTGAATC -3'
Sequencing Primer
(F):5'- TTCCAAGTATCAACAGGACAAGG -3'
(R):5'- GCCTGTGAATCTATGGCATATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation