Incidental Mutation 'R8719:Hdac5'
ID |
670030 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hdac5
|
Ensembl Gene |
ENSMUSG00000008855 |
Gene Name |
histone deacetylase 5 |
Synonyms |
mHDA1 |
MMRRC Submission |
068614-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8719 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
102085244-102120968 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102097963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 61
(M61V)
|
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 benign
Transcript: ENSMUST00000008999
AA Change: M61V
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000008999 Gene: ENSMUSG00000008855 AA Change: M61V
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 benign
Transcript: ENSMUST00000107150
AA Change: M42V
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102768 Gene: ENSMUSG00000008855 AA Change: M42V
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 benign
Transcript: ENSMUST00000107151
AA Change: M43V
PolyPhen 2
Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000102769 Gene: ENSMUSG00000008855 AA Change: M43V
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 benign
Transcript: ENSMUST00000107152
AA Change: M43V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102770 Gene: ENSMUSG00000008855 AA Change: M43V
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
AA Change: M33V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118108 Gene: ENSMUSG00000008855 AA Change: M33V
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 null
Transcript: ENSMUST00000156337
AA Change: M1V
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000116646 Gene: ENSMUSG00000008855 AA Change: M1V
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: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (61/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
T |
C |
8: 46,966,700 (GRCm39) |
I224T |
probably benign |
Het |
Adamts20 |
C |
G |
15: 94,241,903 (GRCm39) |
A702P |
probably damaging |
Het |
Ahdc1 |
T |
A |
4: 132,791,533 (GRCm39) |
Y925N |
possibly damaging |
Het |
Anapc1 |
T |
C |
2: 128,483,369 (GRCm39) |
E1242G |
probably damaging |
Het |
Angptl2 |
A |
G |
2: 33,133,914 (GRCm39) |
N412S |
possibly damaging |
Het |
Aox3 |
T |
C |
1: 58,158,696 (GRCm39) |
V89A |
probably damaging |
Het |
Atxn1l |
A |
T |
8: 110,459,861 (GRCm39) |
S134T |
possibly damaging |
Het |
Brf1 |
C |
A |
12: 112,943,304 (GRCm39) |
|
probably benign |
Het |
Cab39l |
A |
T |
14: 59,734,314 (GRCm39) |
H11L |
probably benign |
Het |
Cabcoco1 |
A |
G |
10: 68,272,671 (GRCm39) |
|
probably benign |
Het |
Ccdc150 |
C |
A |
1: 54,302,668 (GRCm39) |
P96Q |
probably benign |
Het |
Chek2 |
T |
C |
5: 111,014,908 (GRCm39) |
V459A |
probably damaging |
Het |
Cntnap2 |
A |
T |
6: 45,978,161 (GRCm39) |
D272V |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,160,516 (GRCm39) |
S572P |
possibly damaging |
Het |
Cysltr2 |
T |
C |
14: 73,267,111 (GRCm39) |
T200A |
possibly damaging |
Het |
Dglucy |
T |
C |
12: 100,804,821 (GRCm39) |
L104P |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,960,289 (GRCm39) |
M2222K |
probably damaging |
Het |
Dync2h1 |
C |
A |
9: 7,041,641 (GRCm39) |
V3334F |
probably benign |
Het |
Ear2 |
A |
T |
14: 44,340,734 (GRCm39) |
T131S |
possibly damaging |
Het |
Eef1akmt2 |
A |
T |
7: 132,452,340 (GRCm39) |
V92D |
probably damaging |
Het |
Fam83c |
T |
A |
2: 155,671,128 (GRCm39) |
Q769L |
probably benign |
Het |
Fanca |
A |
T |
8: 124,014,867 (GRCm39) |
C812S |
probably benign |
Het |
Gm21663 |
T |
G |
5: 26,146,162 (GRCm39) |
R50S |
probably damaging |
Het |
Gm5591 |
T |
G |
7: 38,221,614 (GRCm39) |
S152R |
probably benign |
Het |
Gm6370 |
T |
G |
5: 146,430,626 (GRCm39) |
D270E |
probably damaging |
Het |
H2-T22 |
T |
C |
17: 36,352,835 (GRCm39) |
I91V |
probably benign |
Het |
Hsd17b6 |
A |
G |
10: 127,829,492 (GRCm39) |
S237P |
possibly damaging |
Het |
Khk |
T |
A |
5: 31,088,374 (GRCm39) |
F294I |
possibly damaging |
Het |
Klc1 |
G |
A |
12: 111,772,509 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
T |
C |
1: 193,006,099 (GRCm39) |
W143R |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,264 (GRCm39) |
I171T |
probably damaging |
Het |
Meis1 |
A |
G |
11: 18,835,587 (GRCm39) |
S344P |
probably benign |
Het |
Nf1 |
C |
A |
11: 79,281,119 (GRCm39) |
R125S |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,586,325 (GRCm39) |
E105G |
probably benign |
Het |
Nudt22 |
T |
C |
19: 6,972,638 (GRCm39) |
D150G |
possibly damaging |
Het |
Or14j8 |
T |
C |
17: 38,263,895 (GRCm39) |
T7A |
probably damaging |
Het |
Or5an1 |
A |
G |
19: 12,260,792 (GRCm39) |
I127V |
probably benign |
Het |
Or5b109 |
A |
G |
19: 13,211,836 (GRCm39) |
Y74C |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,763,778 (GRCm39) |
R799* |
probably null |
Het |
Pelp1 |
T |
C |
11: 70,292,789 (GRCm39) |
N175S |
probably damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pik3r4 |
C |
A |
9: 105,559,394 (GRCm39) |
S1162R |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,341,255 (GRCm39) |
N36I |
unknown |
Het |
Pomk |
T |
A |
8: 26,473,503 (GRCm39) |
Y150F |
possibly damaging |
Het |
Rdh11 |
T |
A |
12: 79,229,574 (GRCm39) |
H233L |
probably benign |
Het |
Rln1 |
A |
T |
19: 29,309,281 (GRCm39) |
M166K |
probably benign |
Het |
Rnf40 |
T |
A |
7: 127,191,834 (GRCm39) |
L356Q |
probably damaging |
Het |
Sin3b |
G |
T |
8: 73,450,139 (GRCm39) |
G19W |
unknown |
Het |
Slc6a15 |
A |
G |
10: 103,240,176 (GRCm39) |
R300G |
probably damaging |
Het |
Sncaip |
A |
T |
18: 53,027,910 (GRCm39) |
K433M |
probably damaging |
Het |
Tead2 |
A |
T |
7: 44,882,316 (GRCm39) |
|
probably benign |
Het |
Tespa1 |
A |
G |
10: 130,184,108 (GRCm39) |
D63G |
probably benign |
Het |
Tmem117 |
T |
C |
15: 94,992,248 (GRCm39) |
F303L |
probably damaging |
Het |
Tmem270 |
T |
G |
5: 134,930,650 (GRCm39) |
T204P |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,722,790 (GRCm39) |
V1320A |
probably damaging |
Het |
Ttc7b |
A |
G |
12: 100,267,812 (GRCm39) |
L843P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,543,041 (GRCm39) |
Y33315C |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,607,146 (GRCm39) |
V17959A |
possibly damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,521,095 (GRCm39) |
V291A |
probably damaging |
Het |
Ywhag |
T |
A |
5: 135,939,998 (GRCm39) |
T199S |
probably benign |
Het |
Zfp810 |
T |
C |
9: 22,190,571 (GRCm39) |
T77A |
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 |
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 |
R9337:Hdac5
|
UTSW |
11 |
102,096,178 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCAAGTGGTCGTGCTGCTTC -3'
(R):5'- CCTGTTGCAGAGTTTCTTATTGAAG -3'
Sequencing Primer
(F):5'- TTCTGGAACTCGGCGAACAG -3'
(R):5'- CTAGCTTCAGTTTCGCCTAAAGAAAG -3'
|
Posted On |
2021-04-30 |