Incidental Mutation 'R9600:Hdac4'
| ID |
723643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac4
|
| Ensembl Gene |
ENSMUSG00000026313 |
| Gene Name |
histone deacetylase 4 |
| Synonyms |
4932408F19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9600 (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 T
at 91889277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 749
(D749E)
|
| 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: D749E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: D749E
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187308
AA Change: D186E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140092
Gene: ENSMUSG00000026313
AA Change: D186E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
93 |
313 |
2.3e-61 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
G |
11: 80,261,197 (GRCm39) |
V210A |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,536,102 (GRCm39) |
A1544V |
possibly damaging |
Het |
| Akap6 |
A |
G |
12: 52,933,341 (GRCm39) |
T278A |
probably benign |
Het |
| Arfgef1 |
T |
A |
1: 10,233,977 (GRCm39) |
I1106F |
probably benign |
Het |
| Armc7 |
T |
C |
11: 115,367,038 (GRCm39) |
L61S |
probably damaging |
Het |
| Atp1a3 |
G |
A |
7: 24,700,027 (GRCm39) |
T111M |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,095,565 (GRCm39) |
K1103* |
probably null |
Het |
| Cacna2d4 |
T |
A |
6: 119,322,023 (GRCm39) |
S962R |
probably benign |
Het |
| Camsap2 |
T |
C |
1: 136,204,936 (GRCm39) |
T526A |
|
Het |
| Casq2 |
A |
T |
3: 102,052,622 (GRCm39) |
D378V |
unknown |
Het |
| Chst8 |
C |
T |
7: 34,374,646 (GRCm39) |
D398N |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,226,604 (GRCm39) |
G2828D |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 45,969,009 (GRCm39) |
N250K |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,380,520 (GRCm39) |
N401D |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,757,119 (GRCm39) |
N7S |
probably damaging |
Het |
| Cyp4f39 |
G |
A |
17: 32,705,920 (GRCm39) |
G337D |
probably damaging |
Het |
| Dera |
C |
T |
6: 137,814,135 (GRCm39) |
R308C |
probably benign |
Het |
| Drd5 |
T |
A |
5: 38,478,174 (GRCm39) |
I389N |
possibly damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,433,237 (GRCm39) |
T107A |
probably damaging |
Het |
| Fbxw22 |
C |
A |
9: 109,212,986 (GRCm39) |
L320F |
probably damaging |
Het |
| Fndc3b |
G |
T |
3: 27,552,941 (GRCm39) |
T352K |
probably damaging |
Het |
| Gm36864 |
T |
A |
7: 43,886,275 (GRCm39) |
I169K |
unknown |
Het |
| Herc1 |
C |
T |
9: 66,304,594 (GRCm39) |
A805V |
possibly damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,453 (GRCm39) |
K245E |
probably benign |
Het |
| Khdc1a |
A |
G |
1: 21,421,204 (GRCm39) |
T130A |
probably benign |
Het |
| Lrp5 |
C |
G |
19: 3,641,712 (GRCm39) |
A1417P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,365,002 (GRCm39) |
Q3253R |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,684,723 (GRCm39) |
L811* |
probably null |
Het |
| Mettl8 |
T |
C |
2: 70,812,383 (GRCm39) |
D84G |
possibly damaging |
Het |
| Miga1 |
T |
G |
3: 151,993,186 (GRCm39) |
T412P |
probably benign |
Het |
| Mtor |
G |
T |
4: 148,632,092 (GRCm39) |
R2322L |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,567,147 (GRCm39) |
N1791D |
unknown |
Het |
| Myo9b |
C |
G |
8: 71,743,075 (GRCm39) |
S45R |
possibly damaging |
Het |
| Nup50l |
A |
T |
6: 96,142,156 (GRCm39) |
L296Q |
possibly damaging |
Het |
| Olfm4 |
T |
C |
14: 80,243,747 (GRCm39) |
F105S |
probably damaging |
Het |
| Or5af2 |
A |
T |
11: 58,708,370 (GRCm39) |
I179F |
possibly damaging |
Het |
| Osbpl1a |
T |
C |
18: 13,015,277 (GRCm39) |
I384V |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,030,435 (GRCm39) |
L1131P |
|
Het |
| Pex6 |
T |
A |
17: 47,035,322 (GRCm39) |
V827E |
probably damaging |
Het |
| Plek |
A |
C |
11: 16,940,119 (GRCm39) |
S197A |
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,282,598 (GRCm39) |
Y269H |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,512,881 (GRCm39) |
I493T |
probably benign |
Het |
| Rap1gap2 |
T |
C |
11: 74,283,954 (GRCm39) |
N615D |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,815,198 (GRCm39) |
Y389C |
unknown |
Het |
| Rusf1 |
T |
A |
7: 127,875,676 (GRCm39) |
D253V |
possibly damaging |
Het |
| Sardh |
T |
C |
2: 27,120,513 (GRCm39) |
Q423R |
probably benign |
Het |
| Slc11a1 |
T |
C |
1: 74,422,688 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,896,239 (GRCm39) |
D572G |
probably damaging |
Het |
| Slco1a8 |
T |
G |
6: 141,949,234 (GRCm39) |
|
probably null |
Het |
| Slfn14 |
A |
G |
11: 83,170,048 (GRCm39) |
V532A |
probably benign |
Het |
| Spmip10 |
T |
C |
18: 56,725,450 (GRCm39) |
W37R |
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,701,120 (GRCm39) |
Y264C |
possibly damaging |
Het |
| Syce1l |
T |
C |
8: 114,381,750 (GRCm39) |
I230T |
unknown |
Het |
| Taf5l |
T |
C |
8: 124,730,173 (GRCm39) |
Y172C |
|
Het |
| Trpc4 |
A |
T |
3: 54,102,248 (GRCm39) |
K49* |
probably null |
Het |
| Ttc13 |
A |
G |
8: 125,415,284 (GRCm39) |
V285A |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,204,890 (GRCm39) |
L344Q |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,135,972 (GRCm39) |
H2469R |
probably benign |
Het |
| Xkr7 |
A |
G |
2: 152,896,393 (GRCm39) |
I416V |
probably benign |
Het |
| Zeb2 |
C |
A |
2: 44,987,180 (GRCm39) |
D35Y |
unknown |
Het |
| Zfp28 |
A |
G |
7: 6,397,917 (GRCm39) |
H784R |
probably benign |
Het |
| Zfp644 |
A |
C |
5: 106,783,909 (GRCm39) |
S848R |
probably benign |
Het |
| Zfp809 |
G |
A |
9: 22,150,384 (GRCm39) |
E294K |
possibly damaging |
Het |
| Zfp820 |
A |
G |
17: 22,038,861 (GRCm39) |
Y156H |
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 |
|
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 |
|
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'- TGACCACATCATCCTGGACAG -3'
(R):5'- TAGGTTAGGATGCTCACTGTCAG -3'
Sequencing Primer
(F):5'- CTGACTGACCTTTAGCTCTC -3'
(R):5'- ACTGTCAGCCCAGGTCTGTTAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation