Incidental Mutation 'IGL01396:Hdac4'
ID |
79471 |
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 # |
IGL01396
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
91856501-92123421 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 91887196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
[ENSMUST00000187308]
|
AlphaFold |
Q6NZM9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008995
|
SMART Domains |
Protein: ENSMUSP00000008995 Gene: ENSMUSG00000026313
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187308
|
SMART Domains |
Protein: ENSMUSP00000140092 Gene: ENSMUSG00000026313
Domain | Start | End | E-Value | Type |
Pfam:Hist_deacetyl
|
93 |
313 |
2.3e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189303
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,120,649 (GRCm39) |
Y469N |
probably benign |
Het |
Actl11 |
T |
C |
9: 107,805,964 (GRCm39) |
S96P |
possibly damaging |
Het |
Ankrd13b |
T |
A |
11: 77,363,198 (GRCm39) |
|
probably null |
Het |
Apobec4 |
T |
A |
1: 152,632,017 (GRCm39) |
I15K |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,090,401 (GRCm39) |
D1039E |
probably damaging |
Het |
Atp1a1 |
C |
T |
3: 101,498,769 (GRCm39) |
G175R |
probably damaging |
Het |
AU040320 |
T |
A |
4: 126,763,171 (GRCm39) |
|
probably benign |
Het |
Bcl9l |
G |
A |
9: 44,418,121 (GRCm39) |
R653H |
probably damaging |
Het |
Ccdc141 |
T |
A |
2: 76,958,669 (GRCm39) |
I144L |
possibly damaging |
Het |
Cdh20 |
C |
T |
1: 104,875,154 (GRCm39) |
T312I |
possibly damaging |
Het |
Cdh23 |
C |
T |
10: 60,220,848 (GRCm39) |
V1297I |
possibly damaging |
Het |
Cfap57 |
T |
C |
4: 118,467,792 (GRCm39) |
Y315C |
probably damaging |
Het |
Chd8 |
A |
G |
14: 52,442,044 (GRCm39) |
|
probably benign |
Het |
Cog5 |
A |
G |
12: 31,944,095 (GRCm39) |
D660G |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,196,945 (GRCm39) |
I332T |
probably damaging |
Het |
Csgalnact2 |
T |
C |
6: 118,103,288 (GRCm39) |
T225A |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,421,490 (GRCm39) |
L310P |
probably damaging |
Het |
Dgki |
T |
C |
6: 36,977,025 (GRCm39) |
N695S |
probably damaging |
Het |
Gas7 |
T |
A |
11: 67,543,740 (GRCm39) |
|
probably null |
Het |
Gm21286 |
T |
C |
4: 60,794,323 (GRCm39) |
|
noncoding transcript |
Het |
Gm4799 |
C |
T |
10: 82,790,518 (GRCm39) |
|
noncoding transcript |
Het |
Hif1a |
T |
A |
12: 73,987,307 (GRCm39) |
S467T |
probably benign |
Het |
Ier5 |
A |
G |
1: 154,974,296 (GRCm39) |
V294A |
probably damaging |
Het |
Ifna11 |
T |
C |
4: 88,738,314 (GRCm39) |
V40A |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,436,191 (GRCm39) |
|
probably benign |
Het |
Lbx1 |
G |
T |
19: 45,222,670 (GRCm39) |
Q118K |
probably benign |
Het |
Lta |
A |
T |
17: 35,423,061 (GRCm39) |
|
probably null |
Het |
Matr3 |
A |
G |
18: 35,721,442 (GRCm39) |
Y471C |
probably damaging |
Het |
Nrg2 |
A |
T |
18: 36,178,905 (GRCm39) |
|
probably benign |
Het |
Or4c103 |
C |
T |
2: 88,513,575 (GRCm39) |
C167Y |
probably damaging |
Het |
Or4k51 |
T |
C |
2: 111,584,848 (GRCm39) |
F85L |
probably benign |
Het |
Or4k51 |
T |
A |
2: 111,584,948 (GRCm39) |
M118K |
probably damaging |
Het |
Or5l13 |
G |
T |
2: 87,780,207 (GRCm39) |
F123L |
probably damaging |
Het |
Patl1 |
A |
G |
19: 11,901,247 (GRCm39) |
K299R |
probably damaging |
Het |
Pdgfrb |
A |
G |
18: 61,205,736 (GRCm39) |
E574G |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,843,386 (GRCm39) |
Q1858* |
probably null |
Het |
Prkca |
T |
C |
11: 107,905,148 (GRCm39) |
K197E |
possibly damaging |
Het |
Psmc6 |
C |
A |
14: 45,581,124 (GRCm39) |
Q307K |
probably benign |
Het |
Rasa1 |
T |
C |
13: 85,406,561 (GRCm39) |
I181V |
probably benign |
Het |
Scel |
A |
G |
14: 103,845,530 (GRCm39) |
|
probably benign |
Het |
Scn5a |
A |
T |
9: 119,363,770 (GRCm39) |
S457T |
probably damaging |
Het |
Sesn3 |
A |
G |
9: 14,232,374 (GRCm39) |
T216A |
probably benign |
Het |
Slc25a21 |
A |
G |
12: 57,205,974 (GRCm39) |
V19A |
probably benign |
Het |
Slc34a1 |
A |
G |
13: 55,550,546 (GRCm39) |
T81A |
probably damaging |
Het |
Slc35a5 |
A |
G |
16: 44,971,866 (GRCm39) |
Y117H |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,114,196 (GRCm39) |
V569A |
probably benign |
Het |
Sqle |
A |
G |
15: 59,195,723 (GRCm39) |
Y333C |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,068,552 (GRCm39) |
E3078G |
possibly damaging |
Het |
Tacc2 |
T |
A |
7: 130,360,919 (GRCm39) |
I2737N |
probably damaging |
Het |
Tet3 |
A |
T |
6: 83,346,620 (GRCm39) |
Y1272* |
probably null |
Het |
Tnr |
G |
T |
1: 159,724,594 (GRCm39) |
R1095L |
possibly damaging |
Het |
Vmn1r184 |
T |
C |
7: 25,966,862 (GRCm39) |
S203P |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,477,301 (GRCm39) |
L370P |
probably damaging |
Het |
Xrcc5 |
A |
G |
1: 72,393,404 (GRCm39) |
H559R |
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 |
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 |
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 |
2013-11-05 |