Incidental Mutation 'R8732:Hdac4'
| ID |
662777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac4
|
| Ensembl Gene |
ENSMUSG00000026313 |
| Gene Name |
histone deacetylase 4 |
| Synonyms |
4932408F19Rik |
| MMRRC Submission |
068580-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8732 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91856501-92123421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 91875239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 911
(A911S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
|
| AlphaFold |
Q6NZM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008995
AA Change: A911S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: A911S
| 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: A911S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
A |
T |
13: 41,981,622 (GRCm39) |
N82K |
probably damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,578,906 (GRCm39) |
S57T |
possibly damaging |
Het |
| Aoc3 |
A |
G |
11: 101,222,643 (GRCm39) |
N293S |
probably benign |
Het |
| Aup1 |
A |
T |
6: 83,033,602 (GRCm39) |
H302L |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,931,206 (GRCm39) |
R277W |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,734,946 (GRCm39) |
I346V |
unknown |
Het |
| Cd44 |
T |
C |
2: 102,664,645 (GRCm39) |
T519A |
possibly damaging |
Het |
| Cela1 |
A |
G |
15: 100,580,766 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,689,195 (GRCm39) |
V57A |
possibly damaging |
Het |
| Cpt1b |
G |
C |
15: 89,308,628 (GRCm39) |
T100S |
probably benign |
Het |
| D6Wsu163e |
A |
T |
6: 126,932,859 (GRCm39) |
I361F |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,083,449 (GRCm39) |
D153E |
possibly damaging |
Het |
| Dync2h1 |
G |
T |
9: 7,168,326 (GRCm39) |
R430S |
probably damaging |
Het |
| Dync2i2 |
T |
A |
2: 29,922,220 (GRCm39) |
T414S |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,695,100 (GRCm39) |
F1730L |
probably benign |
Het |
| Eml5 |
C |
T |
12: 98,782,218 (GRCm39) |
G1405R |
probably damaging |
Het |
| Ergic2 |
G |
A |
6: 148,102,975 (GRCm39) |
A91V |
probably damaging |
Het |
| Fancl |
A |
T |
11: 26,419,754 (GRCm39) |
I336L |
probably benign |
Het |
| Fpr3 |
A |
G |
17: 18,191,223 (GRCm39) |
T165A |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,807,291 (GRCm39) |
I1662V |
possibly damaging |
Het |
| Gpr153 |
C |
T |
4: 152,363,558 (GRCm39) |
|
probably benign |
Het |
| Ighd |
T |
C |
12: 113,378,183 (GRCm39) |
N139D |
|
Het |
| Klhl22 |
T |
A |
16: 17,589,690 (GRCm39) |
L117Q |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,928,180 (GRCm39) |
S1226G |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,828,481 (GRCm39) |
C2126S |
probably damaging |
Het |
| Ldlr |
A |
G |
9: 21,650,985 (GRCm39) |
I468V |
probably benign |
Het |
| Lmtk3 |
G |
A |
7: 45,447,712 (GRCm39) |
A1253T |
unknown |
Het |
| Lta |
T |
A |
17: 35,423,045 (GRCm39) |
N93Y |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,403,563 (GRCm39) |
|
probably null |
Het |
| Mink1 |
A |
G |
11: 70,500,902 (GRCm39) |
|
probably null |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Ntpcr |
A |
G |
8: 126,472,074 (GRCm39) |
M132V |
probably benign |
Het |
| Or14a257 |
A |
G |
7: 86,138,061 (GRCm39) |
S233P |
probably damaging |
Het |
| Or52n1 |
A |
G |
7: 104,383,115 (GRCm39) |
M152T |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,408,098 (GRCm39) |
I18T |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,660,590 (GRCm39) |
I357V |
probably benign |
Het |
| Pax7 |
G |
T |
4: 139,506,920 (GRCm39) |
H372Q |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,949,541 (GRCm39) |
Y966H |
probably damaging |
Het |
| Pde4b |
A |
C |
4: 102,412,822 (GRCm39) |
D199A |
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,792,311 (GRCm39) |
N494D |
probably benign |
Het |
| Prdm2 |
G |
T |
4: 142,862,580 (GRCm39) |
Q237K |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,097,769 (GRCm39) |
L1091P |
probably damaging |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,106,264 (GRCm39) |
*414Q |
probably null |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rrp9 |
C |
A |
9: 106,360,388 (GRCm39) |
T238K |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,259,882 (GRCm39) |
D630G |
probably benign |
Het |
| Slc7a9 |
A |
G |
7: 35,156,443 (GRCm39) |
D295G |
probably benign |
Het |
| Slco3a1 |
A |
T |
7: 73,934,054 (GRCm39) |
M706K |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,962,514 (GRCm39) |
|
probably null |
Het |
| Stam2 |
A |
T |
2: 52,590,180 (GRCm39) |
Y394N |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,510,442 (GRCm39) |
L341P |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,171,624 (GRCm39) |
H160Q |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,809 (GRCm39) |
C334S |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,731,456 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,537,480 (GRCm39) |
K34816R |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,627,735 (GRCm39) |
N14736I |
probably damaging |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,890 (GRCm39) |
Q231R |
possibly damaging |
Het |
| Vmn1r235 |
A |
G |
17: 21,482,439 (GRCm39) |
T255A |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,209 (GRCm39) |
I437K |
unknown |
Het |
| Ywhae |
A |
G |
11: 75,642,769 (GRCm39) |
N43D |
probably damaging |
Het |
| Zfp583 |
A |
T |
7: 6,320,210 (GRCm39) |
Y267* |
probably null |
Het |
| Zfp608 |
C |
T |
18: 55,121,072 (GRCm39) |
G172R |
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 |
|
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'- AAATGCAGGTGAGAGCCCTC -3'
(R):5'- TGCAAAGCATGTTCTTGTGG -3'
Sequencing Primer
(F):5'- AGGTGAGAGCCCTCCATTG -3'
(R):5'- GCAAAGCATGTTCTTGTGGTTAAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation