Incidental Mutation 'R5393:Hdac10'
| ID |
425981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac10
|
| Ensembl Gene |
ENSMUSG00000062906 |
| Gene Name |
histone deacetylase 10 |
| Synonyms |
|
| MMRRC Submission |
042965-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5393 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89007510-89012903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89010887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 238
(Y238C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041656]
[ENSMUST00000082197]
[ENSMUST00000088827]
[ENSMUST00000109347]
[ENSMUST00000109353]
|
| AlphaFold |
Q6P3E7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041656
|
| SMART Domains |
Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1667 |
3.3e-119 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082197
AA Change: Y238C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080832
Gene: ENSMUSG00000062906
AA Change: Y238C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
13 |
322 |
2.1e-85 |
PFAM |
|
low complexity region
|
478 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088827
|
| SMART Domains |
Protein: ENSMUSP00000086207
Gene: ENSMUSG00000022610
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
27 |
311 |
1.63e-96 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109347
AA Change: Y238C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104971
Gene: ENSMUSG00000062906
AA Change: Y238C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
13 |
251 |
6.1e-66 |
PFAM |
|
low complexity region
|
270 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109353
|
| SMART Domains |
Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
355 |
1675 |
2.8e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128908
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230266
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230509
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230352
|
| Meta Mutation Damage Score |
0.9410 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (72/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the histone deacetylase family, members of which deacetylate lysine residues on the N-terminal part of the core histones. Histone deacetylation modulates chromatin structure, and plays an important role in transcriptional regulation, cell cycle progression, and developmental events. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110025L11Rik |
A |
T |
16: 88,860,653 (GRCm39) |
Y60* |
probably null |
Het |
| Abca6 |
T |
A |
11: 110,135,121 (GRCm39) |
E221D |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adi1 |
A |
G |
12: 28,725,274 (GRCm39) |
D8G |
probably benign |
Het |
| Adnp |
T |
C |
2: 168,024,869 (GRCm39) |
K809E |
possibly damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,574,011 (GRCm39) |
H4R |
probably benign |
Het |
| Atp6v0a1 |
T |
C |
11: 100,929,633 (GRCm39) |
S485P |
possibly damaging |
Het |
| C1galt1 |
T |
C |
6: 7,864,143 (GRCm39) |
|
probably null |
Het |
| Cacna2d4 |
A |
T |
6: 119,216,015 (GRCm39) |
N94I |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,924 (GRCm39) |
N899S |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,067,997 (GRCm39) |
T463A |
probably benign |
Het |
| Coro2a |
A |
G |
4: 46,542,255 (GRCm39) |
S373P |
probably damaging |
Het |
| Cpsf6 |
G |
C |
10: 117,197,921 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,497,099 (GRCm39) |
N3099K |
probably damaging |
Het |
| Ctla2b |
T |
A |
13: 61,043,946 (GRCm39) |
E74D |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,391,683 (GRCm39) |
T671S |
probably benign |
Het |
| Drd5 |
T |
A |
5: 38,478,248 (GRCm39) |
S414T |
probably benign |
Het |
| Dyrk2 |
C |
T |
10: 118,695,753 (GRCm39) |
D502N |
probably damaging |
Het |
| Ecel1 |
A |
T |
1: 87,080,598 (GRCm39) |
L376Q |
possibly damaging |
Het |
| Efcab8 |
G |
A |
2: 153,622,903 (GRCm39) |
R24Q |
unknown |
Het |
| Eloc |
A |
C |
1: 16,718,192 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,515,819 (GRCm39) |
|
probably benign |
Het |
| Fam89b |
T |
C |
19: 5,778,733 (GRCm39) |
D152G |
probably damaging |
Het |
| Gm15455 |
G |
A |
1: 33,875,927 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
A |
G |
18: 10,458,312 (GRCm39) |
T30A |
probably benign |
Het |
| Ighv2-5 |
T |
C |
12: 113,649,502 (GRCm39) |
T12A |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,718,007 (GRCm39) |
|
probably null |
Het |
| Irf9 |
T |
C |
14: 55,843,914 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,277,653 (GRCm39) |
C280* |
probably null |
Het |
| Kcnk18 |
T |
C |
19: 59,208,271 (GRCm39) |
C36R |
probably damaging |
Het |
| Khdc4 |
T |
A |
3: 88,603,913 (GRCm39) |
H243Q |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,785,051 (GRCm39) |
N125K |
probably benign |
Het |
| Lce1i |
T |
C |
3: 92,685,042 (GRCm39) |
S45G |
unknown |
Het |
| Lrmda |
A |
C |
14: 22,077,374 (GRCm39) |
D37A |
probably damaging |
Het |
| Marco |
A |
C |
1: 120,413,583 (GRCm39) |
D280E |
probably damaging |
Het |
| Meak7 |
T |
C |
8: 120,499,157 (GRCm39) |
I112V |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,450 (GRCm39) |
Q180* |
probably null |
Het |
| Npdc1 |
A |
T |
2: 25,298,682 (GRCm39) |
M265L |
probably damaging |
Het |
| Nudcd3 |
T |
C |
11: 6,063,274 (GRCm39) |
K205R |
probably damaging |
Het |
| Or2ak6 |
T |
A |
11: 58,593,326 (GRCm39) |
H266Q |
probably damaging |
Het |
| Or2t46 |
C |
G |
11: 58,471,825 (GRCm39) |
L52V |
possibly damaging |
Het |
| Pcdhga5 |
C |
T |
18: 37,829,720 (GRCm39) |
R723C |
probably benign |
Het |
| Pdlim5 |
T |
A |
3: 141,964,947 (GRCm39) |
E295D |
probably damaging |
Het |
| Poli |
C |
A |
18: 70,650,499 (GRCm39) |
E314* |
probably null |
Het |
| Ptpro |
A |
G |
6: 137,357,222 (GRCm39) |
N238D |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,159,084 (GRCm39) |
I920V |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,187,375 (GRCm39) |
V1338M |
probably damaging |
Het |
| Saa3 |
T |
C |
7: 46,362,085 (GRCm39) |
Y53C |
probably damaging |
Het |
| Septin14 |
T |
A |
5: 129,760,650 (GRCm39) |
E398D |
probably benign |
Het |
| Six3 |
T |
C |
17: 85,931,270 (GRCm39) |
S309P |
possibly damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,311,919 (GRCm39) |
S34P |
probably damaging |
Het |
| Smarca2 |
C |
A |
19: 26,617,829 (GRCm39) |
Q287K |
probably benign |
Het |
| Stard9 |
C |
T |
2: 120,533,387 (GRCm39) |
L522F |
possibly damaging |
Het |
| Sycp1 |
T |
C |
3: 102,748,363 (GRCm39) |
|
probably null |
Het |
| Tbc1d8 |
A |
T |
1: 39,465,169 (GRCm39) |
V73E |
probably damaging |
Het |
| Tmem120a |
T |
C |
5: 135,765,104 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
T |
C |
17: 24,819,370 (GRCm39) |
E1251G |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wnt5b |
A |
C |
6: 119,417,394 (GRCm39) |
L157R |
probably damaging |
Het |
| Zbtb24 |
T |
A |
10: 41,340,578 (GRCm39) |
V536E |
probably damaging |
Het |
| Zfp593 |
G |
A |
4: 133,972,615 (GRCm39) |
A67V |
probably benign |
Het |
| Zfp995 |
A |
T |
17: 22,099,473 (GRCm39) |
F254I |
probably benign |
Het |
|
| Other mutations in Hdac10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Hdac10
|
APN |
15 |
89,012,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01063:Hdac10
|
APN |
15 |
89,008,071 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01577:Hdac10
|
APN |
15 |
89,010,416 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01690:Hdac10
|
APN |
15 |
89,010,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01724:Hdac10
|
APN |
15 |
89,008,912 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01866:Hdac10
|
APN |
15 |
89,008,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01989:Hdac10
|
APN |
15 |
89,009,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01995:Hdac10
|
APN |
15 |
89,011,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02256:Hdac10
|
APN |
15 |
89,010,097 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02668:Hdac10
|
APN |
15 |
89,009,847 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0240:Hdac10
|
UTSW |
15 |
89,010,085 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0240:Hdac10
|
UTSW |
15 |
89,010,085 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0454:Hdac10
|
UTSW |
15 |
89,009,961 (GRCm39) |
splice site |
probably null |
|
|
R0723:Hdac10
|
UTSW |
15 |
89,010,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Hdac10
|
UTSW |
15 |
89,010,065 (GRCm39) |
missense |
probably benign |
|
|
R1553:Hdac10
|
UTSW |
15 |
89,009,718 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1608:Hdac10
|
UTSW |
15 |
89,009,521 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1619:Hdac10
|
UTSW |
15 |
89,010,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1715:Hdac10
|
UTSW |
15 |
89,010,912 (GRCm39) |
splice site |
probably null |
|
|
R2284:Hdac10
|
UTSW |
15 |
89,011,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2872:Hdac10
|
UTSW |
15 |
89,010,059 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2872:Hdac10
|
UTSW |
15 |
89,010,059 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3688:Hdac10
|
UTSW |
15 |
89,007,767 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4283:Hdac10
|
UTSW |
15 |
89,009,826 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4604:Hdac10
|
UTSW |
15 |
89,009,600 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4654:Hdac10
|
UTSW |
15 |
89,011,036 (GRCm39) |
unclassified |
probably benign |
|
|
R4898:Hdac10
|
UTSW |
15 |
89,012,650 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4998:Hdac10
|
UTSW |
15 |
89,008,143 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5769:Hdac10
|
UTSW |
15 |
89,007,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5785:Hdac10
|
UTSW |
15 |
89,011,148 (GRCm39) |
missense |
probably benign |
|
|
R6992:Hdac10
|
UTSW |
15 |
89,009,534 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7149:Hdac10
|
UTSW |
15 |
89,011,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7237:Hdac10
|
UTSW |
15 |
89,009,580 (GRCm39) |
missense |
probably benign |
|
|
R7276:Hdac10
|
UTSW |
15 |
89,012,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7395:Hdac10
|
UTSW |
15 |
89,012,487 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9294:Hdac10
|
UTSW |
15 |
89,010,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Hdac10
|
UTSW |
15 |
89,011,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACCCACTCACATAAGGTTAGAC -3'
(R):5'- AGGGCCAAGGTTTCACTGTC -3'
Sequencing Primer
(F):5'- AGGTTAGACTTTCTGAGACACC -3'
(R):5'- GTCAATTTGCCCTGGAACCAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation