Incidental Mutation 'R5431:Hdac4'
ID |
428028 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hdac4
|
Ensembl Gene |
ENSMUSG00000026313 |
Gene Name |
histone deacetylase 4 |
Synonyms |
4932408F19Rik |
MMRRC Submission |
042847-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5431 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
91856501-92123421 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 91900512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 54
(R54*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008995]
[ENSMUST00000097644]
[ENSMUST00000187308]
|
AlphaFold |
Q6NZM9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000008995
AA Change: R622*
|
SMART Domains |
Protein: ENSMUSP00000008995 Gene: ENSMUSG00000026313 AA Change: R622*
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 null
Transcript: ENSMUST00000097644
AA Change: R622*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000187308
AA Change: R54*
|
SMART Domains |
Protein: ENSMUSP00000140092 Gene: ENSMUSG00000026313 AA Change: R54*
Domain | Start | End | E-Value | Type |
Pfam:Hist_deacetyl
|
93 |
313 |
2.3e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189303
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194827
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
T |
C |
16: 88,504,426 (GRCm39) |
S124G |
possibly damaging |
Het |
4921539E11Rik |
T |
C |
4: 103,128,045 (GRCm39) |
T27A |
probably benign |
Het |
Aspg |
T |
A |
12: 112,089,846 (GRCm39) |
N461K |
probably benign |
Het |
B4galnt3 |
T |
A |
6: 120,195,928 (GRCm39) |
T300S |
probably damaging |
Het |
BC035044 |
A |
G |
6: 128,861,970 (GRCm39) |
|
probably benign |
Het |
Bmp5 |
C |
T |
9: 75,800,991 (GRCm39) |
P374S |
probably damaging |
Het |
C330018D20Rik |
A |
T |
18: 57,090,928 (GRCm39) |
F78L |
probably benign |
Het |
Cds2 |
T |
A |
2: 132,144,090 (GRCm39) |
S289T |
probably benign |
Het |
Cerkl |
C |
T |
2: 79,171,679 (GRCm39) |
C393Y |
probably damaging |
Het |
Cibar2 |
C |
A |
8: 120,894,042 (GRCm39) |
|
probably null |
Het |
Ciita |
C |
T |
16: 10,341,656 (GRCm39) |
R1020C |
probably damaging |
Het |
Dcaf13 |
C |
A |
15: 38,986,619 (GRCm39) |
D130E |
probably benign |
Het |
Dnal4 |
C |
T |
15: 79,646,648 (GRCm39) |
G50R |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,957,323 (GRCm39) |
N109S |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,824,420 (GRCm39) |
V2435A |
unknown |
Het |
Fam178b |
T |
C |
1: 36,671,566 (GRCm39) |
E185G |
probably damaging |
Het |
Fam227b |
C |
A |
2: 125,968,851 (GRCm39) |
L74F |
probably benign |
Het |
Fgfr4 |
G |
A |
13: 55,304,464 (GRCm39) |
V138I |
probably benign |
Het |
Flnc |
A |
G |
6: 29,456,383 (GRCm39) |
I2161V |
possibly damaging |
Het |
Frmd5 |
T |
C |
2: 121,393,390 (GRCm39) |
N235S |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Ggt6 |
A |
G |
11: 72,328,564 (GRCm39) |
T355A |
possibly damaging |
Het |
Gm14393 |
G |
A |
2: 174,905,669 (GRCm39) |
T41I |
probably damaging |
Het |
Gpr151 |
A |
C |
18: 42,711,932 (GRCm39) |
S249A |
probably damaging |
Het |
Gpr152 |
T |
A |
19: 4,193,746 (GRCm39) |
V429D |
probably benign |
Het |
Grm7 |
G |
A |
6: 111,335,387 (GRCm39) |
M599I |
probably benign |
Het |
Ice1 |
A |
G |
13: 70,740,769 (GRCm39) |
L2146S |
probably damaging |
Het |
Igfbpl1 |
C |
T |
4: 45,815,588 (GRCm39) |
V183I |
probably benign |
Het |
Kel |
G |
A |
6: 41,675,354 (GRCm39) |
S299F |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,424,433 (GRCm39) |
I1016T |
possibly damaging |
Het |
Lhx3 |
T |
C |
2: 26,091,130 (GRCm39) |
D395G |
probably damaging |
Het |
Micu1 |
T |
C |
10: 59,586,343 (GRCm39) |
Y140H |
possibly damaging |
Het |
Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
Nbn |
C |
T |
4: 15,986,593 (GRCm39) |
H665Y |
probably benign |
Het |
Pkhd1 |
G |
T |
1: 20,188,060 (GRCm39) |
T3416K |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,929,840 (GRCm39) |
F232S |
probably damaging |
Het |
Pus7l |
T |
C |
15: 94,427,367 (GRCm39) |
N472D |
probably damaging |
Het |
Rfx1 |
C |
T |
8: 84,809,349 (GRCm39) |
Q225* |
probably null |
Het |
Rnase2a |
T |
C |
14: 51,493,020 (GRCm39) |
Y115C |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,809,237 (GRCm39) |
D386V |
probably benign |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Sgcz |
T |
A |
8: 38,107,138 (GRCm39) |
T125S |
probably damaging |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,668,695 (GRCm39) |
S36G |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,574,119 (GRCm39) |
L31P |
probably damaging |
Het |
Tenm3 |
C |
A |
8: 48,820,412 (GRCm39) |
E142* |
probably null |
Het |
Tgfbr2 |
G |
T |
9: 115,960,669 (GRCm39) |
S94R |
probably damaging |
Het |
Tut4 |
T |
A |
4: 108,348,609 (GRCm39) |
I297N |
probably damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,239,684 (GRCm39) |
I293T |
probably damaging |
Het |
Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,746,324 (GRCm39) |
D511G |
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 |
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 |
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'- TGCAGGCTGTTCCCTTAAC -3'
(R):5'- CATGGTTAGTTGTCCCATGGC -3'
Sequencing Primer
(F):5'- AGGCTGTTCCCTTAACCTCTCATTAG -3'
(R):5'- TAGTTGTCCCATGGCAGAGAG -3'
|
Posted On |
2016-09-01 |