Incidental Mutation 'R2216:Hdac9'
| ID |
241171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac9
|
| Ensembl Gene |
ENSMUSG00000004698 |
| Gene Name |
histone deacetylase 9 |
| Synonyms |
HDRP, Mitr, Hdac7b, D030072B18Rik |
| MMRRC Submission |
040218-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2216 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
34097579-34967094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34479516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 212
(D212E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110819]
[ENSMUST00000209463]
[ENSMUST00000209667]
[ENSMUST00000209750]
[ENSMUST00000209902]
[ENSMUST00000209990]
[ENSMUST00000210724]
[ENSMUST00000211107]
[ENSMUST00000211752]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110819
AA Change: D212E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106443
Gene: ENSMUSG00000004698
AA Change: D212E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HDAC4_Gln
|
37 |
124 |
5.4e-36 |
PFAM |
|
low complexity region
|
260 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
480 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209463
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209667
AA Change: D212E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209750
AA Change: D215E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209902
AA Change: D212E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209990
AA Change: D215E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210724
AA Change: D212E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211107
AA Change: D184E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211752
AA Change: D236E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211632
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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 has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display age dependent cardiac hypertrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
G |
T |
11: 71,922,272 (GRCm39) |
P146T |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,924,559 (GRCm39) |
T423S |
probably damaging |
Het |
| Bend5 |
A |
G |
4: 111,305,787 (GRCm39) |
N277S |
probably null |
Het |
| Cd22 |
G |
T |
7: 30,566,471 (GRCm39) |
T816N |
probably damaging |
Het |
| Cep126 |
G |
A |
9: 8,120,679 (GRCm39) |
R115C |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,858,741 (GRCm39) |
H710R |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,003 (GRCm39) |
L1695H |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,020,742 (GRCm39) |
V371A |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,077,355 (GRCm39) |
|
probably null |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,352 (GRCm39) |
|
probably null |
Het |
| Dennd1c |
C |
T |
17: 57,381,492 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
G |
A |
18: 50,026,990 (GRCm39) |
V2033I |
probably benign |
Het |
| Dtna |
A |
G |
18: 23,702,622 (GRCm39) |
H51R |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,184,227 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,731,720 (GRCm39) |
V945E |
probably benign |
Het |
| Gpbar1 |
C |
G |
1: 74,318,053 (GRCm39) |
L99V |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,133,565 (GRCm39) |
D448E |
probably benign |
Het |
| Itga2b |
T |
A |
11: 102,358,692 (GRCm39) |
N75I |
probably benign |
Het |
| Klra7 |
T |
C |
6: 130,205,549 (GRCm39) |
E117G |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,273,490 (GRCm39) |
R2349C |
probably benign |
Het |
| Masp1 |
T |
C |
16: 23,310,805 (GRCm39) |
N209S |
probably benign |
Het |
| Mybpc2 |
C |
T |
7: 44,161,924 (GRCm39) |
|
probably null |
Het |
| Myh15 |
C |
G |
16: 48,986,201 (GRCm39) |
S1557* |
probably null |
Het |
| Myo3a |
A |
C |
2: 22,467,783 (GRCm39) |
T346P |
probably benign |
Het |
| Nim1k |
A |
G |
13: 120,175,751 (GRCm39) |
Y152H |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,802,077 (GRCm39) |
R507* |
probably null |
Het |
| Or13n4 |
T |
A |
7: 106,423,205 (GRCm39) |
H176L |
probably damaging |
Het |
| Or5e1 |
C |
T |
7: 108,354,819 (GRCm39) |
T252M |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,677,575 (GRCm39) |
I798V |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,614,816 (GRCm39) |
A212T |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,291 (GRCm39) |
H3522L |
probably damaging |
Het |
| Pram1 |
C |
T |
17: 33,860,258 (GRCm39) |
A275V |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,257 (GRCm39) |
W169R |
probably damaging |
Het |
| Prkag1 |
A |
T |
15: 98,713,827 (GRCm39) |
M1K |
probably null |
Het |
| Prss52 |
T |
C |
14: 64,351,042 (GRCm39) |
S276P |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,431,125 (GRCm39) |
V284D |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,253,003 (GRCm39) |
D648G |
probably benign |
Het |
| Rnf112 |
A |
G |
11: 61,343,105 (GRCm39) |
L190P |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,314,678 (GRCm39) |
P2010Q |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,342,151 (GRCm39) |
Y1138C |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,663,798 (GRCm39) |
H274R |
probably benign |
Het |
| Slc5a6 |
T |
G |
5: 31,196,679 (GRCm39) |
E391D |
possibly damaging |
Het |
| Speer2 |
T |
C |
16: 69,655,730 (GRCm39) |
Q32R |
possibly damaging |
Het |
| Tars1 |
A |
G |
15: 11,389,794 (GRCm39) |
V372A |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,337,267 (GRCm39) |
L1250Q |
possibly damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,066,301 (GRCm39) |
Y222C |
probably benign |
Het |
| Trim40 |
T |
C |
17: 37,199,875 (GRCm39) |
I68V |
probably benign |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,226 (GRCm39) |
I150V |
probably benign |
Het |
| Ube2u |
T |
C |
4: 100,389,365 (GRCm39) |
V109A |
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,611,908 (GRCm39) |
D969E |
probably benign |
Het |
| Vil1 |
G |
T |
1: 74,464,838 (GRCm39) |
R495L |
probably benign |
Het |
| Wfs1 |
T |
A |
5: 37,124,564 (GRCm39) |
K700* |
probably null |
Het |
| Zcchc8 |
A |
G |
5: 123,845,466 (GRCm39) |
L298P |
probably damaging |
Het |
| Zfp946 |
A |
T |
17: 22,673,697 (GRCm39) |
Q150H |
possibly damaging |
Het |
|
| Other mutations in Hdac9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01317:Hdac9
|
APN |
12 |
34,479,488 (GRCm39) |
splice site |
probably benign |
|
|
IGL01484:Hdac9
|
APN |
12 |
34,487,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02010:Hdac9
|
APN |
12 |
34,481,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02059:Hdac9
|
APN |
12 |
34,481,967 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02276:Hdac9
|
APN |
12 |
34,481,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02797:Hdac9
|
APN |
12 |
34,443,273 (GRCm39) |
splice site |
probably benign |
|
|
IGL03202:Hdac9
|
APN |
12 |
34,423,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Hdac9
|
UTSW |
12 |
34,145,933 (GRCm39) |
missense |
unknown |
|
|
R0304:Hdac9
|
UTSW |
12 |
34,424,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Hdac9
|
UTSW |
12 |
34,487,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Hdac9
|
UTSW |
12 |
34,487,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Hdac9
|
UTSW |
12 |
34,479,491 (GRCm39) |
splice site |
probably benign |
|
|
R1879:Hdac9
|
UTSW |
12 |
34,440,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1942:Hdac9
|
UTSW |
12 |
34,479,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Hdac9
|
UTSW |
12 |
34,439,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Hdac9
|
UTSW |
12 |
34,440,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2224:Hdac9
|
UTSW |
12 |
34,457,801 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2225:Hdac9
|
UTSW |
12 |
34,457,801 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2227:Hdac9
|
UTSW |
12 |
34,457,801 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3500:Hdac9
|
UTSW |
12 |
34,487,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4441:Hdac9
|
UTSW |
12 |
34,439,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Hdac9
|
UTSW |
12 |
34,423,959 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4694:Hdac9
|
UTSW |
12 |
34,487,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Hdac9
|
UTSW |
12 |
34,423,906 (GRCm39) |
missense |
probably benign |
|
|
R5229:Hdac9
|
UTSW |
12 |
34,487,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Hdac9
|
UTSW |
12 |
34,443,392 (GRCm39) |
nonsense |
probably null |
|
|
R5384:Hdac9
|
UTSW |
12 |
34,479,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Hdac9
|
UTSW |
12 |
34,423,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6129:Hdac9
|
UTSW |
12 |
34,337,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6157:Hdac9
|
UTSW |
12 |
34,439,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6248:Hdac9
|
UTSW |
12 |
34,578,293 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6333:Hdac9
|
UTSW |
12 |
34,102,323 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6474:Hdac9
|
UTSW |
12 |
34,481,990 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6589:Hdac9
|
UTSW |
12 |
34,265,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Hdac9
|
UTSW |
12 |
34,265,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Hdac9
|
UTSW |
12 |
34,337,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6837:Hdac9
|
UTSW |
12 |
34,337,463 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6857:Hdac9
|
UTSW |
12 |
34,443,362 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7069:Hdac9
|
UTSW |
12 |
34,479,548 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7237:Hdac9
|
UTSW |
12 |
34,424,139 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7768:Hdac9
|
UTSW |
12 |
34,440,239 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7917:Hdac9
|
UTSW |
12 |
34,483,209 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7974:Hdac9
|
UTSW |
12 |
34,353,219 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7990:Hdac9
|
UTSW |
12 |
34,265,452 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8489:Hdac9
|
UTSW |
12 |
34,487,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:Hdac9
|
UTSW |
12 |
34,440,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Hdac9
|
UTSW |
12 |
34,220,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9397:Hdac9
|
UTSW |
12 |
34,353,275 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9431:Hdac9
|
UTSW |
12 |
34,440,327 (GRCm39) |
nonsense |
probably null |
|
|
R9629:Hdac9
|
UTSW |
12 |
34,439,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9646:Hdac9
|
UTSW |
12 |
34,487,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Hdac9
|
UTSW |
12 |
34,362,602 (GRCm39) |
missense |
probably benign |
0.21 |
|
Z1088:Hdac9
|
UTSW |
12 |
34,457,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hdac9
|
UTSW |
12 |
34,423,986 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCTGTATATCTAGGAATTGTGTC -3'
(R):5'- GACATAAATGCAGCCGAGGC -3'
Sequencing Primer
(F):5'- ATCTAGGAATTGTGTCTGCATGTGC -3'
(R):5'- CAGCATGGGAAACTGAGTATTTGTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation