Incidental Mutation 'R7781:Hdac4'
| ID |
599209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac4
|
| Ensembl Gene |
ENSMUSG00000026313 |
| Gene Name |
histone deacetylase 4 |
| Synonyms |
4932408F19Rik |
| MMRRC Submission |
045837-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7781 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
91856501-92123421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 91903387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 514
(R514L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
[ENSMUST00000187308]
|
| AlphaFold |
Q6NZM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008995
AA Change: R514L
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: R514L
| 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: R514L
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
G |
A |
3: 19,682,706 (GRCm39) |
P23S |
unknown |
Het |
| Abcc6 |
C |
T |
7: 45,655,030 (GRCm39) |
R487Q |
probably damaging |
Het |
| Abl1 |
A |
T |
2: 31,680,709 (GRCm39) |
T334S |
probably damaging |
Het |
| Adam6b |
T |
C |
12: 113,454,962 (GRCm39) |
F593S |
probably damaging |
Het |
| Alx1 |
A |
T |
10: 102,845,053 (GRCm39) |
M326K |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,758,258 (GRCm39) |
D984V |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,562,644 (GRCm39) |
N202S |
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,121,157 (GRCm39) |
V12E |
probably damaging |
Het |
| Atl2 |
A |
T |
17: 80,167,260 (GRCm39) |
Y254N |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,116,226 (GRCm39) |
M630T |
probably benign |
Het |
| Atp5po |
A |
T |
16: 91,723,417 (GRCm39) |
I124N |
possibly damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Bicdl1 |
T |
C |
5: 115,799,546 (GRCm39) |
E181G |
probably damaging |
Het |
| Bnipl |
C |
A |
3: 95,151,486 (GRCm39) |
W272L |
probably damaging |
Het |
| Catsperd |
A |
T |
17: 56,971,072 (GRCm39) |
H712L |
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,334,997 (GRCm39) |
D667G |
possibly damaging |
Het |
| Cntn4 |
A |
C |
6: 106,500,575 (GRCm39) |
K351Q |
probably damaging |
Het |
| Coq7 |
A |
T |
7: 118,125,111 (GRCm39) |
I171N |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,228,771 (GRCm39) |
F371I |
probably benign |
Het |
| Cyp3a13 |
C |
T |
5: 137,897,136 (GRCm39) |
V393M |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,470,000 (GRCm39) |
V564A |
probably damaging |
Het |
| Ear14 |
T |
C |
14: 51,441,468 (GRCm39) |
L108P |
probably damaging |
Het |
| Egflam |
C |
A |
15: 7,283,227 (GRCm39) |
V277F |
probably null |
Het |
| Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,265,089 (GRCm39) |
M596V |
probably benign |
Het |
| Fbxw15 |
T |
A |
9: 109,386,330 (GRCm39) |
T270S |
possibly damaging |
Het |
| Gabpb1 |
C |
T |
2: 126,481,120 (GRCm39) |
C342Y |
possibly damaging |
Het |
| Gls |
A |
T |
1: 52,251,492 (GRCm39) |
C288* |
probably null |
Het |
| Grm8 |
G |
T |
6: 27,285,786 (GRCm39) |
D875E |
probably benign |
Het |
| Hps4 |
T |
A |
5: 112,518,388 (GRCm39) |
N460K |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,627,394 (GRCm39) |
F565S |
probably damaging |
Het |
| Kcnh5 |
C |
A |
12: 75,023,455 (GRCm39) |
V538F |
probably damaging |
Het |
| Kcp |
T |
C |
6: 29,497,764 (GRCm39) |
N499S |
probably damaging |
Het |
| Klk15 |
T |
C |
7: 43,588,980 (GRCm39) |
L244S |
probably benign |
Het |
| Lamp3 |
A |
T |
16: 19,518,440 (GRCm39) |
S266T |
possibly damaging |
Het |
| Lemd3 |
A |
G |
10: 120,761,678 (GRCm39) |
F863L |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,747,838 (GRCm39) |
V663D |
probably damaging |
Het |
| Naa15 |
A |
G |
3: 51,378,904 (GRCm39) |
|
probably null |
Het |
| Ndrg3 |
C |
A |
2: 156,770,733 (GRCm39) |
G352* |
probably null |
Het |
| Nr2f6 |
G |
T |
8: 71,828,595 (GRCm39) |
N233K |
possibly damaging |
Het |
| Or4a79 |
A |
G |
2: 89,551,879 (GRCm39) |
F192S |
probably benign |
Het |
| Plxnb2 |
T |
A |
15: 89,041,225 (GRCm39) |
M1774L |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rpl23a |
G |
A |
11: 78,073,654 (GRCm39) |
R62W |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,269,530 (GRCm39) |
R63G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,767,055 (GRCm39) |
D2976G |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,923,258 (GRCm39) |
Y496H |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,218,566 (GRCm39) |
V257A |
possibly damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,201,112 (GRCm39) |
|
probably null |
Het |
| Slc4a1ap |
T |
C |
5: 31,684,822 (GRCm39) |
S153P |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,376,791 (GRCm39) |
E1006V |
possibly damaging |
Het |
| Svep1 |
T |
G |
4: 58,069,251 (GRCm39) |
E2845A |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 65,084,079 (GRCm39) |
N166S |
possibly damaging |
Het |
| Tmem231 |
C |
T |
8: 112,644,922 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
C |
A |
17: 24,827,089 (GRCm39) |
L873F |
possibly damaging |
Het |
| Unc13b |
T |
G |
4: 43,259,546 (GRCm39) |
S1403A |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,553 (GRCm39) |
F236L |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,789,714 (GRCm39) |
S431G |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,910,860 (GRCm39) |
K751* |
probably null |
Het |
| Wdr90 |
C |
T |
17: 26,065,300 (GRCm39) |
R1652Q |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,931,895 (GRCm39) |
Y366H |
probably damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,109,577 (GRCm39) |
H89L |
possibly damaging |
Het |
| Zfp607a |
C |
T |
7: 27,565,000 (GRCm39) |
R56C |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTGAAGAGCAGCTCCTG -3'
(R):5'- GAGCATCATTTCCTGTGTGTC -3'
Sequencing Primer
(F):5'- GCTCTGTCTCTCGAGTGGC -3'
(R):5'- TCTCAGATAATGCTAGGGCCCATG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation