Incidental Mutation 'R6450:Hdac4'
ID |
519322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hdac4
|
Ensembl Gene |
ENSMUSG00000026313 |
Gene Name |
histone deacetylase 4 |
Synonyms |
4932408F19Rik |
MMRRC Submission |
044586-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6450 (G1)
|
Quality Score |
207.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
91856501-92123421 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 91912433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 348
(P348S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
|
AlphaFold |
Q6NZM9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008995
AA Change: P348S
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000008995 Gene: ENSMUSG00000026313 AA Change: P348S
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 |
possibly damaging
Transcript: ENSMUST00000097644
AA Change: P348S
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181260
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189303
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194827
|
Meta Mutation Damage Score |
0.1115 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.5%
- 20x: 95.1%
|
Validation Efficiency |
97% (68/70) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
C |
G |
7: 119,815,449 (GRCm39) |
N232K |
probably benign |
Het |
Acaca |
T |
A |
11: 84,171,294 (GRCm39) |
V5E |
probably damaging |
Het |
Adam18 |
A |
T |
8: 25,119,691 (GRCm39) |
D529E |
probably benign |
Het |
Adgrb3 |
T |
C |
1: 25,459,683 (GRCm39) |
T798A |
probably benign |
Het |
Alyref |
T |
C |
11: 120,486,872 (GRCm39) |
T130A |
probably benign |
Het |
Arhgap24 |
A |
G |
5: 103,044,990 (GRCm39) |
S591G |
probably benign |
Het |
Carmil1 |
C |
T |
13: 24,220,547 (GRCm39) |
G655E |
probably damaging |
Het |
Cdc42bpg |
T |
A |
19: 6,364,518 (GRCm39) |
|
probably null |
Het |
Clec12a |
T |
A |
6: 129,330,366 (GRCm39) |
L48H |
probably damaging |
Het |
Coq2 |
C |
A |
5: 100,809,770 (GRCm39) |
|
probably benign |
Het |
Crb2 |
C |
A |
2: 37,683,838 (GRCm39) |
F1113L |
possibly damaging |
Het |
Ctla4 |
A |
T |
1: 60,951,872 (GRCm39) |
M134L |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dync2i1 |
A |
T |
12: 116,210,347 (GRCm39) |
Y314* |
probably null |
Het |
Efhb |
A |
G |
17: 53,759,632 (GRCm39) |
V290A |
possibly damaging |
Het |
Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
Eva1a |
A |
T |
6: 82,069,086 (GRCm39) |
I138F |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,180,136 (GRCm39) |
I1402F |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,910,466 (GRCm39) |
H1845Q |
possibly damaging |
Het |
Gimap8 |
T |
A |
6: 48,633,385 (GRCm39) |
F401L |
probably benign |
Het |
Gpr162 |
C |
T |
6: 124,838,152 (GRCm39) |
R166Q |
possibly damaging |
Het |
H2ac8 |
A |
G |
13: 23,755,119 (GRCm39) |
V55A |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,251,812 (GRCm39) |
V849A |
probably benign |
Het |
Inpp5b |
T |
A |
4: 124,686,045 (GRCm39) |
N696K |
probably damaging |
Het |
Kdm5d |
G |
T |
Y: 927,056 (GRCm39) |
R598L |
probably damaging |
Homo |
Kidins220 |
T |
C |
12: 25,107,190 (GRCm39) |
S1548P |
probably benign |
Het |
Kif2b |
C |
A |
11: 91,467,192 (GRCm39) |
V364L |
probably damaging |
Het |
Kitl |
A |
G |
10: 99,923,256 (GRCm39) |
M1V |
probably null |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Map6 |
T |
C |
7: 98,917,245 (GRCm39) |
I6T |
probably damaging |
Het |
Mastl |
T |
C |
2: 23,010,941 (GRCm39) |
T768A |
probably damaging |
Het |
Mettl16 |
T |
C |
11: 74,696,164 (GRCm39) |
V335A |
probably benign |
Het |
Mpl |
T |
C |
4: 118,305,897 (GRCm39) |
|
probably null |
Het |
Myo5c |
C |
T |
9: 75,193,860 (GRCm39) |
T1205I |
probably benign |
Het |
Nav2 |
C |
A |
7: 49,244,114 (GRCm39) |
L2114I |
probably damaging |
Het |
Neb |
T |
A |
2: 52,084,481 (GRCm39) |
K5330* |
probably null |
Het |
Nfe2l1 |
C |
T |
11: 96,718,161 (GRCm39) |
E125K |
possibly damaging |
Het |
Onecut3 |
A |
G |
10: 80,331,922 (GRCm39) |
K361E |
probably damaging |
Het |
Or4f47 |
T |
A |
2: 111,972,725 (GRCm39) |
L145* |
probably null |
Het |
Osbpl6 |
A |
G |
2: 76,395,174 (GRCm39) |
N370S |
possibly damaging |
Het |
Otud4 |
T |
A |
8: 80,399,626 (GRCm39) |
M780K |
probably benign |
Het |
P2rx4 |
A |
G |
5: 122,865,304 (GRCm39) |
T310A |
possibly damaging |
Het |
Pcdha11 |
G |
T |
18: 37,146,215 (GRCm39) |
D769Y |
probably damaging |
Het |
Pcgf6 |
C |
T |
19: 47,037,527 (GRCm39) |
R124H |
probably benign |
Het |
Pibf1 |
T |
A |
14: 99,374,646 (GRCm39) |
Y362N |
probably damaging |
Het |
Ppm1g |
T |
C |
5: 31,360,468 (GRCm39) |
E422G |
probably benign |
Het |
Prmt8 |
T |
C |
6: 127,709,606 (GRCm39) |
I85V |
possibly damaging |
Het |
Prss27 |
A |
T |
17: 24,263,988 (GRCm39) |
K225* |
probably null |
Het |
Rai1 |
A |
T |
11: 60,077,429 (GRCm39) |
T498S |
probably benign |
Het |
Sbf2 |
C |
A |
7: 110,062,070 (GRCm39) |
G23V |
probably damaging |
Het |
Sdha |
C |
T |
13: 74,482,412 (GRCm39) |
|
probably null |
Het |
Sgo2a |
C |
T |
1: 58,042,092 (GRCm39) |
Q140* |
probably null |
Het |
Sh3rf3 |
A |
G |
10: 58,819,966 (GRCm39) |
D259G |
probably damaging |
Het |
Slc27a3 |
C |
A |
3: 90,292,777 (GRCm39) |
D631Y |
probably damaging |
Het |
Slc7a10 |
T |
C |
7: 34,886,015 (GRCm39) |
S37P |
possibly damaging |
Het |
Slco6d1 |
A |
G |
1: 98,349,192 (GRCm39) |
T88A |
probably benign |
Het |
Smad4 |
A |
T |
18: 73,810,817 (GRCm39) |
S56T |
possibly damaging |
Het |
Smarcd1 |
A |
G |
15: 99,605,766 (GRCm39) |
I346V |
possibly damaging |
Het |
Spast |
C |
T |
17: 74,675,835 (GRCm39) |
P260S |
probably benign |
Het |
Spata31f1e |
C |
A |
4: 42,792,489 (GRCm39) |
G548W |
probably damaging |
Het |
Sprr2i |
A |
T |
3: 92,316,017 (GRCm39) |
|
probably benign |
Het |
Sptbn5 |
A |
G |
2: 119,877,616 (GRCm39) |
|
probably benign |
Het |
Taar9 |
A |
T |
10: 23,985,138 (GRCm39) |
Y99N |
probably damaging |
Het |
Trappc10 |
A |
T |
10: 78,045,284 (GRCm39) |
M468K |
possibly damaging |
Het |
Trim66 |
T |
C |
7: 109,059,945 (GRCm39) |
R814G |
probably benign |
Het |
Tspan31 |
A |
G |
10: 126,904,227 (GRCm39) |
C157R |
probably damaging |
Het |
Vmn2r90 |
A |
G |
17: 17,953,498 (GRCm39) |
D554G |
possibly damaging |
Het |
Vmn2r91 |
A |
T |
17: 18,305,527 (GRCm39) |
D70V |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,830,649 (GRCm39) |
G928R |
probably damaging |
Het |
Zfp346 |
G |
T |
13: 55,261,517 (GRCm39) |
K102N |
probably damaging |
Het |
Zmym4 |
G |
A |
4: 126,789,099 (GRCm39) |
P1002S |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACAAGATCCGCTGCTGGAG -3'
(R):5'- AGTCTGCACAGTTTGTTTTGCAC -3'
Sequencing Primer
(F):5'- ATCCGCTGCTGGAGAGCTG -3'
(R):5'- ACAGTTTGTTTTGCACCAGGC -3'
|
Posted On |
2018-05-24 |