Incidental Mutation 'R6639:Hdac4'
| ID |
525624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac4
|
| Ensembl Gene |
ENSMUSG00000026313 |
| Gene Name |
histone deacetylase 4 |
| Synonyms |
4932408F19Rik |
| MMRRC Submission |
044760-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6639 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91856501-92123421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91898670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 695
(C695S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
[ENSMUST00000187308]
|
| AlphaFold |
Q6NZM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008995
AA Change: C695S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: C695S
| 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: C695S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187308
AA Change: C127S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140092
Gene: ENSMUSG00000026313
AA Change: C127S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
93 |
313 |
2.3e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189303
|
| Meta Mutation Damage Score |
0.9551 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
G |
10: 10,311,700 (GRCm39) |
I238L |
possibly damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,297,818 (GRCm39) |
Y313C |
probably damaging |
Het |
| Capn15 |
C |
T |
17: 26,179,152 (GRCm39) |
V940I |
probably benign |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,536,530 (GRCm38) |
S226P |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,411,909 (GRCm39) |
E1245G |
probably benign |
Het |
| Depdc7 |
C |
T |
2: 104,555,098 (GRCm39) |
D271N |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,854,870 (GRCm39) |
D10G |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,708,243 (GRCm39) |
E158G |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,530,481 (GRCm39) |
G227D |
probably benign |
Het |
| Epha1 |
C |
A |
6: 42,342,869 (GRCm39) |
E227* |
probably null |
Het |
| Fbxo40 |
A |
T |
16: 36,790,937 (GRCm39) |
C58S |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,196,479 (GRCm39) |
T611A |
unknown |
Het |
| Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,813,571 (GRCm39) |
D3297N |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,879,537 (GRCm39) |
R930G |
possibly damaging |
Het |
| Ier2 |
G |
A |
8: 85,388,791 (GRCm39) |
T197M |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,552,496 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,567,562 (GRCm39) |
D207G |
possibly damaging |
Het |
| Khdrbs2 |
A |
T |
1: 32,506,943 (GRCm39) |
R196* |
probably null |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,883 (GRCm39) |
Q225* |
probably null |
Het |
| Or14j3 |
A |
G |
17: 37,900,822 (GRCm39) |
C141R |
probably damaging |
Het |
| Or1n2 |
G |
A |
2: 36,797,690 (GRCm39) |
C244Y |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 152,857,191 (GRCm39) |
E17G |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,676,200 (GRCm39) |
P354S |
probably benign |
Het |
| Sh3rf3 |
T |
A |
10: 58,919,289 (GRCm39) |
Y469N |
probably damaging |
Het |
| Thoc6 |
T |
A |
17: 23,889,428 (GRCm39) |
|
probably null |
Het |
| Tpm3 |
C |
G |
3: 89,987,109 (GRCm39) |
A24G |
probably damaging |
Het |
| Tuft1 |
T |
C |
3: 94,539,930 (GRCm39) |
M93V |
probably benign |
Het |
| Vmn1r22 |
T |
C |
6: 57,877,699 (GRCm39) |
I93V |
probably benign |
Het |
| Zfp383 |
T |
C |
7: 29,614,152 (GRCm39) |
S136P |
probably benign |
Het |
| Zfp748 |
T |
C |
13: 67,691,024 (GRCm39) |
K79E |
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 |
|
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 |
|
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'- TTCTCAAAAGGCCACAGACAGAATG -3'
(R):5'- GAATTCTGCTGCTATCTTAGGGC -3'
Sequencing Primer
(F):5'- GCCACAGACAGAATGGATGG -3'
(R):5'- CCACCTTCTGGCATTGGGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation