Incidental Mutation 'R9337:Hdac5'
ID |
707258 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hdac5
|
Ensembl Gene |
ENSMUSG00000008855 |
Gene Name |
histone deacetylase 5 |
Synonyms |
mHDA1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9337 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 102096178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 332
(P332S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000008999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008999]
[ENSMUST00000107150]
[ENSMUST00000107151]
[ENSMUST00000107152]
[ENSMUST00000124077]
[ENSMUST00000131254]
[ENSMUST00000156337]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000008999
AA Change: P332S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000008999 Gene: ENSMUSG00000008855 AA Change: P332S
Domain | Start | End | E-Value | Type |
low complexity region
|
58 |
75 |
N/A |
INTRINSIC |
Pfam:HDAC4_Gln
|
86 |
174 |
1e-30 |
PFAM |
low complexity region
|
233 |
247 |
N/A |
INTRINSIC |
low complexity region
|
322 |
337 |
N/A |
INTRINSIC |
low complexity region
|
502 |
541 |
N/A |
INTRINSIC |
low complexity region
|
560 |
577 |
N/A |
INTRINSIC |
coiled coil region
|
583 |
617 |
N/A |
INTRINSIC |
Pfam:Hist_deacetyl
|
704 |
1034 |
1.4e-81 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107150
AA Change: P313S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102768 Gene: ENSMUSG00000008855 AA Change: P313S
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
56 |
N/A |
INTRINSIC |
Pfam:HDAC4_Gln
|
66 |
155 |
5.1e-37 |
PFAM |
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
low complexity region
|
483 |
522 |
N/A |
INTRINSIC |
low complexity region
|
541 |
558 |
N/A |
INTRINSIC |
coiled coil region
|
564 |
598 |
N/A |
INTRINSIC |
Pfam:Hist_deacetyl
|
685 |
1015 |
9.4e-91 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107151
AA Change: P314S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102769 Gene: ENSMUSG00000008855 AA Change: P314S
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
Pfam:HDAC4_Gln
|
67 |
156 |
1.1e-37 |
PFAM |
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
low complexity region
|
484 |
523 |
N/A |
INTRINSIC |
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
coiled coil region
|
565 |
599 |
N/A |
INTRINSIC |
Pfam:Hist_deacetyl
|
618 |
931 |
1.2e-82 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107152
AA Change: P314S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102770 Gene: ENSMUSG00000008855 AA Change: P314S
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
Pfam:HDAC4_Gln
|
67 |
156 |
3.7e-37 |
PFAM |
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
low complexity region
|
484 |
523 |
N/A |
INTRINSIC |
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
coiled coil region
|
565 |
599 |
N/A |
INTRINSIC |
Pfam:Hist_deacetyl
|
686 |
1016 |
6.4e-91 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124077
|
SMART Domains |
Protein: ENSMUSP00000116672 Gene: ENSMUSG00000008855
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131254
|
SMART Domains |
Protein: ENSMUSP00000118108 Gene: ENSMUSG00000008855
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
47 |
N/A |
INTRINSIC |
Pfam:HDAC4_Gln
|
57 |
146 |
1.5e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156337
|
SMART Domains |
Protein: ENSMUSP00000116646 Gene: ENSMUSG00000008855
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
Pfam:HDAC4_Gln
|
25 |
114 |
2e-38 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (65/65) |
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 the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice are viable and display cardiac hypertrophy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Adad1 |
T |
C |
3: 37,139,247 (GRCm39) |
V439A |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,989,824 (GRCm39) |
|
probably benign |
Het |
Arhgef10l |
G |
A |
4: 140,338,624 (GRCm39) |
T46I |
probably damaging |
Het |
C3ar1 |
A |
G |
6: 122,827,278 (GRCm39) |
V313A |
probably benign |
Het |
Capn13 |
T |
A |
17: 73,633,467 (GRCm39) |
|
probably null |
Het |
Ccdc30 |
T |
A |
4: 119,190,920 (GRCm39) |
|
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,616,319 (GRCm39) |
Q928R |
probably benign |
Het |
Cept1 |
A |
G |
3: 106,412,575 (GRCm39) |
L299S |
possibly damaging |
Het |
Clba1 |
T |
C |
12: 112,775,898 (GRCm39) |
L218P |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,468,448 (GRCm39) |
I1460M |
probably damaging |
Het |
Col4a2 |
T |
C |
8: 11,479,346 (GRCm39) |
L743P |
probably benign |
Het |
Cop1 |
T |
C |
1: 159,072,221 (GRCm39) |
V179A |
probably benign |
Het |
Cpvl |
A |
G |
6: 53,909,479 (GRCm39) |
I219T |
probably damaging |
Het |
Cyc1 |
T |
C |
15: 76,228,506 (GRCm39) |
V45A |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,369,806 (GRCm39) |
N4410K |
probably benign |
Het |
Dok4 |
T |
A |
8: 95,593,469 (GRCm39) |
T106S |
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,665,588 (GRCm39) |
F842L |
probably damaging |
Het |
Fam24b |
T |
A |
7: 130,927,949 (GRCm39) |
Y80F |
probably benign |
Het |
Fbn2 |
G |
A |
18: 58,342,723 (GRCm39) |
A52V |
probably benign |
Het |
Gal3st3 |
A |
T |
19: 5,356,868 (GRCm39) |
N81I |
probably damaging |
Het |
Gm13283 |
T |
A |
4: 88,679,036 (GRCm39) |
V9E |
possibly damaging |
Het |
Gm17026 |
A |
G |
14: 42,080,873 (GRCm39) |
S58P |
|
Het |
Grm8 |
A |
T |
6: 27,761,214 (GRCm39) |
S337T |
probably benign |
Het |
Hr |
A |
T |
14: 70,797,324 (GRCm39) |
E519V |
probably benign |
Het |
Hspbap1 |
A |
G |
16: 35,645,395 (GRCm39) |
H360R |
probably benign |
Het |
Iqgap3 |
T |
G |
3: 88,023,425 (GRCm39) |
|
probably null |
Het |
Krtap5-3 |
T |
A |
7: 141,756,267 (GRCm39) |
H175Q |
unknown |
Het |
Lrrn4 |
A |
T |
2: 132,712,552 (GRCm39) |
S424T |
probably benign |
Het |
Lsm10 |
C |
A |
4: 125,991,660 (GRCm39) |
H5Q |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,394,252 (GRCm39) |
K459* |
probably null |
Het |
Myo15b |
A |
C |
11: 115,749,861 (GRCm39) |
K210N |
|
Het |
Or12e7 |
T |
A |
2: 87,287,527 (GRCm39) |
I6N |
probably benign |
Het |
Or8k38 |
T |
C |
2: 86,488,476 (GRCm39) |
T109A |
probably benign |
Het |
Park7 |
A |
T |
4: 150,991,553 (GRCm39) |
C46S |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,943,844 (GRCm39) |
F653S |
probably damaging |
Het |
Plekha1 |
T |
A |
7: 130,511,348 (GRCm39) |
C311S |
possibly damaging |
Het |
Pprc1 |
T |
A |
19: 46,052,198 (GRCm39) |
M576K |
unknown |
Het |
Prelid3b |
G |
A |
2: 174,310,161 (GRCm39) |
T74M |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,327,116 (GRCm39) |
Y311C |
probably damaging |
Het |
Prom2 |
A |
C |
2: 127,371,094 (GRCm39) |
V801G |
probably damaging |
Het |
Psmd9 |
T |
A |
5: 123,386,387 (GRCm39) |
V44D |
probably damaging |
Het |
Ptpn3 |
C |
G |
4: 57,218,521 (GRCm39) |
L647F |
probably damaging |
Het |
Ptprj |
T |
C |
2: 90,270,238 (GRCm39) |
D1286G |
probably damaging |
Het |
Rcc2 |
T |
C |
4: 140,445,689 (GRCm39) |
I449T |
probably damaging |
Het |
Rev3l |
A |
T |
10: 39,698,850 (GRCm39) |
S1116C |
probably benign |
Het |
Rnf212 |
A |
T |
5: 108,922,755 (GRCm39) |
S32T |
possibly damaging |
Het |
Rnf40 |
T |
A |
7: 127,188,172 (GRCm39) |
S2T |
probably benign |
Het |
Rrp8 |
T |
C |
7: 105,383,384 (GRCm39) |
D294G |
probably damaging |
Het |
Rtf2 |
A |
T |
2: 172,308,205 (GRCm39) |
K201N |
probably damaging |
Het |
Runx3 |
A |
G |
4: 134,890,574 (GRCm39) |
T173A |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,086,678 (GRCm39) |
I827M |
probably benign |
Het |
Sec22b |
T |
C |
3: 97,828,494 (GRCm39) |
Y186H |
probably benign |
Het |
Serpina5 |
C |
T |
12: 104,071,542 (GRCm39) |
T383I |
possibly damaging |
Het |
Slc12a2 |
A |
G |
18: 58,063,238 (GRCm39) |
D906G |
probably damaging |
Het |
Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
Stat1 |
G |
T |
1: 52,191,429 (GRCm39) |
A595S |
probably benign |
Het |
Stat3 |
A |
T |
11: 100,798,815 (GRCm39) |
|
probably null |
Het |
Styxl1 |
T |
C |
5: 135,794,592 (GRCm39) |
S82G |
probably benign |
Het |
Taf1b |
T |
A |
12: 24,597,121 (GRCm39) |
D353E |
possibly damaging |
Het |
Tbce |
T |
C |
13: 14,194,398 (GRCm39) |
K87R |
probably benign |
Het |
Thada |
T |
C |
17: 84,749,205 (GRCm39) |
M589V |
probably benign |
Het |
Them5 |
A |
G |
3: 94,254,048 (GRCm39) |
M257V |
unknown |
Het |
Tln1 |
A |
T |
4: 43,532,927 (GRCm39) |
I2425N |
probably damaging |
Het |
Tuba8 |
A |
G |
6: 121,202,823 (GRCm39) |
S379G |
probably damaging |
Het |
Vrk1 |
T |
C |
12: 106,024,957 (GRCm39) |
|
probably null |
Het |
Zbtb34 |
T |
C |
2: 33,301,716 (GRCm39) |
Y275C |
probably damaging |
Het |
Zcwpw1 |
T |
C |
5: 137,799,274 (GRCm39) |
C214R |
probably benign |
Het |
Zeb2 |
A |
G |
2: 44,912,912 (GRCm39) |
V137A |
probably benign |
Het |
|
Other mutations in Hdac5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00815:Hdac5
|
APN |
11 |
102,088,168 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01614:Hdac5
|
APN |
11 |
102,090,854 (GRCm39) |
missense |
probably benign |
0.38 |
IGL01799:Hdac5
|
APN |
11 |
102,090,911 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02839:Hdac5
|
APN |
11 |
102,095,734 (GRCm39) |
missense |
probably damaging |
1.00 |
E0354:Hdac5
|
UTSW |
11 |
102,092,972 (GRCm39) |
unclassified |
probably benign |
|
R0544:Hdac5
|
UTSW |
11 |
102,086,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Hdac5
|
UTSW |
11 |
102,087,078 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0632:Hdac5
|
UTSW |
11 |
102,096,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R0659:Hdac5
|
UTSW |
11 |
102,086,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R0930:Hdac5
|
UTSW |
11 |
102,095,472 (GRCm39) |
missense |
probably benign |
0.02 |
R1195:Hdac5
|
UTSW |
11 |
102,096,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R1195:Hdac5
|
UTSW |
11 |
102,096,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R1195:Hdac5
|
UTSW |
11 |
102,096,332 (GRCm39) |
missense |
probably damaging |
0.99 |
R1475:Hdac5
|
UTSW |
11 |
102,093,012 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1491:Hdac5
|
UTSW |
11 |
102,092,079 (GRCm39) |
missense |
probably benign |
|
R1596:Hdac5
|
UTSW |
11 |
102,095,482 (GRCm39) |
splice site |
probably null |
|
R1673:Hdac5
|
UTSW |
11 |
102,089,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R1783:Hdac5
|
UTSW |
11 |
102,091,342 (GRCm39) |
missense |
probably benign |
|
R1932:Hdac5
|
UTSW |
11 |
102,086,698 (GRCm39) |
splice site |
probably benign |
|
R2197:Hdac5
|
UTSW |
11 |
102,095,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R2348:Hdac5
|
UTSW |
11 |
102,090,840 (GRCm39) |
missense |
probably benign |
0.44 |
R2518:Hdac5
|
UTSW |
11 |
102,087,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R3081:Hdac5
|
UTSW |
11 |
102,096,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R3622:Hdac5
|
UTSW |
11 |
102,086,644 (GRCm39) |
missense |
probably benign |
0.34 |
R4543:Hdac5
|
UTSW |
11 |
102,104,770 (GRCm39) |
intron |
probably benign |
|
R4559:Hdac5
|
UTSW |
11 |
102,089,928 (GRCm39) |
unclassified |
probably benign |
|
R4661:Hdac5
|
UTSW |
11 |
102,096,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R4682:Hdac5
|
UTSW |
11 |
102,097,456 (GRCm39) |
missense |
probably null |
0.99 |
R4708:Hdac5
|
UTSW |
11 |
102,093,019 (GRCm39) |
missense |
probably damaging |
0.97 |
R4933:Hdac5
|
UTSW |
11 |
102,091,389 (GRCm39) |
unclassified |
probably benign |
|
R4957:Hdac5
|
UTSW |
11 |
102,096,082 (GRCm39) |
unclassified |
probably benign |
|
R4991:Hdac5
|
UTSW |
11 |
102,096,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R5090:Hdac5
|
UTSW |
11 |
102,088,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R5103:Hdac5
|
UTSW |
11 |
102,087,109 (GRCm39) |
missense |
probably damaging |
0.98 |
R5330:Hdac5
|
UTSW |
11 |
102,088,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R5331:Hdac5
|
UTSW |
11 |
102,088,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Hdac5
|
UTSW |
11 |
102,092,967 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5449:Hdac5
|
UTSW |
11 |
102,086,923 (GRCm39) |
nonsense |
probably null |
|
R5682:Hdac5
|
UTSW |
11 |
102,104,749 (GRCm39) |
intron |
probably benign |
|
R6615:Hdac5
|
UTSW |
11 |
102,087,882 (GRCm39) |
splice site |
probably null |
|
R6705:Hdac5
|
UTSW |
11 |
102,092,062 (GRCm39) |
missense |
probably damaging |
0.99 |
R6875:Hdac5
|
UTSW |
11 |
102,093,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R6952:Hdac5
|
UTSW |
11 |
102,095,786 (GRCm39) |
missense |
probably benign |
|
R7179:Hdac5
|
UTSW |
11 |
102,095,385 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7368:Hdac5
|
UTSW |
11 |
102,088,207 (GRCm39) |
missense |
probably null |
1.00 |
R8140:Hdac5
|
UTSW |
11 |
102,088,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R8151:Hdac5
|
UTSW |
11 |
102,097,294 (GRCm39) |
missense |
probably benign |
0.00 |
R8684:Hdac5
|
UTSW |
11 |
102,096,147 (GRCm39) |
missense |
probably benign |
0.01 |
R8719:Hdac5
|
UTSW |
11 |
102,097,963 (GRCm39) |
missense |
probably benign |
0.18 |
R8751:Hdac5
|
UTSW |
11 |
102,109,280 (GRCm39) |
missense |
probably benign |
0.19 |
R8893:Hdac5
|
UTSW |
11 |
102,097,512 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9516:Hdac5
|
UTSW |
11 |
102,093,522 (GRCm39) |
missense |
probably benign |
0.08 |
R9595:Hdac5
|
UTSW |
11 |
102,096,129 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGGACAAATCTCTTTTCAAGGC -3'
(R):5'- AGAGCAGTTGAGATCACCGG -3'
Sequencing Primer
(F):5'- TGTACACAGAGGCATCTTGGC -3'
(R):5'- CTCCTGTCCTAATGGTGA -3'
|
Posted On |
2022-04-18 |