Incidental Mutation 'IGL01860:Hdac4'
| ID |
178281 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hdac4
|
| Ensembl Gene |
ENSMUSG00000026313 |
| Gene Name |
histone deacetylase 4 |
| Synonyms |
4932408F19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01860
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
91856501-92123421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91861417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1051
(M1051T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
|
| AlphaFold |
Q6NZM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008995
AA Change: M1051T
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: M1051T
| 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 benign
Transcript: ENSMUST00000097644
AA Change: M1051T
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191327
|
| Coding Region Coverage |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,914 (GRCm39) |
N248Y |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,868,023 (GRCm39) |
V128M |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,566,175 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,224,621 (GRCm39) |
M1405K |
probably damaging |
Het |
| Atp6v1a |
G |
T |
16: 43,920,319 (GRCm39) |
L426M |
probably damaging |
Het |
| Calhm6 |
A |
G |
10: 34,002,561 (GRCm39) |
V174A |
probably damaging |
Het |
| Cdc123 |
A |
G |
2: 5,808,752 (GRCm39) |
|
probably benign |
Het |
| Cept1 |
A |
G |
3: 106,438,444 (GRCm39) |
|
probably benign |
Het |
| Cipc |
T |
A |
12: 87,007,047 (GRCm39) |
D60E |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,581,747 (GRCm39) |
S30P |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,659 (GRCm39) |
I121T |
probably benign |
Het |
| Fbln5 |
A |
G |
12: 101,776,128 (GRCm39) |
Y89H |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,030,738 (GRCm39) |
F128L |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,037,005 (GRCm39) |
I154N |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 154,792,483 (GRCm39) |
T515A |
probably benign |
Het |
| Gas2l2 |
G |
A |
11: 83,312,906 (GRCm39) |
T802I |
probably benign |
Het |
| Gm10710 |
T |
A |
3: 83,035,156 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,115,909 (GRCm39) |
V849A |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,938,738 (GRCm39) |
I579V |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,197,787 (GRCm39) |
I609V |
probably benign |
Het |
| Itgam |
C |
A |
7: 127,670,115 (GRCm39) |
Q136K |
probably benign |
Het |
| Kcnc1 |
T |
C |
7: 46,077,554 (GRCm39) |
L452P |
probably damaging |
Het |
| Ltbp4 |
T |
A |
7: 27,019,071 (GRCm39) |
T1083S |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
| Nalf1 |
A |
T |
8: 9,257,831 (GRCm39) |
V439E |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,056,385 (GRCm39) |
V103E |
probably damaging |
Het |
| Pals1 |
T |
C |
12: 78,877,681 (GRCm39) |
V531A |
possibly damaging |
Het |
| Pappa |
A |
G |
4: 65,123,329 (GRCm39) |
D888G |
possibly damaging |
Het |
| Pcdhb21 |
G |
T |
18: 37,647,958 (GRCm39) |
M362I |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,705,628 (GRCm39) |
S333P |
probably damaging |
Het |
| Ppm1j |
A |
G |
3: 104,691,408 (GRCm39) |
T299A |
probably damaging |
Het |
| Pramel46 |
G |
A |
5: 95,418,510 (GRCm39) |
T162I |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,732,749 (GRCm39) |
E168G |
probably damaging |
Het |
| Rspry1 |
A |
G |
8: 95,376,444 (GRCm39) |
N322S |
probably benign |
Het |
| Slc7a9 |
T |
A |
7: 35,156,485 (GRCm39) |
V309E |
probably damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,003,548 (GRCm39) |
|
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,227 (GRCm39) |
M103K |
probably damaging |
Het |
| Tbxas1 |
T |
A |
6: 38,925,561 (GRCm39) |
F59I |
probably damaging |
Het |
| Tfpi |
A |
G |
2: 84,274,378 (GRCm39) |
S203P |
probably benign |
Het |
| Tram2 |
T |
C |
1: 21,074,083 (GRCm39) |
N285S |
possibly damaging |
Het |
| Trio |
T |
A |
15: 27,846,896 (GRCm39) |
D980V |
probably damaging |
Het |
| Trpv5 |
T |
A |
6: 41,637,229 (GRCm39) |
H419L |
probably damaging |
Het |
| Usp28 |
C |
T |
9: 48,943,543 (GRCm39) |
R361* |
probably null |
Het |
| Vmn1r6 |
T |
A |
6: 56,979,674 (GRCm39) |
L112* |
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,025 (GRCm39) |
N179K |
probably benign |
Het |
| Vmn2r82 |
G |
T |
10: 79,214,691 (GRCm39) |
A225S |
probably benign |
Het |
| Zcchc4 |
A |
G |
5: 52,965,698 (GRCm39) |
Y334C |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,610,116 (GRCm39) |
E949G |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation