Incidental Mutation 'R3846:Hdac1-ps'
| ID |
277397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac1-ps
|
| Ensembl Gene |
ENSMUSG00000061062 |
| Gene Name |
histone deacetylase 1, pseudogene |
| Synonyms |
EG15181, Gm10093 |
| MMRRC Submission |
040894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R3846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
78799011-78800454 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78800401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 464
(K464R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079363]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079363
AA Change: K464R
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078339
Gene: ENSMUSG00000061062
AA Change: K464R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hist_deacetyl
|
18 |
320 |
3.2e-84 |
PFAM |
|
low complexity region
|
390 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
471 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,244,570 (GRCm39) |
Y261H |
probably damaging |
Het |
| Acad10 |
T |
A |
5: 121,772,749 (GRCm39) |
I511F |
probably benign |
Het |
| Adgb |
G |
A |
10: 10,258,465 (GRCm39) |
|
probably benign |
Het |
| Adgrg3 |
T |
C |
8: 95,767,049 (GRCm39) |
V468A |
probably benign |
Het |
| Ano4 |
A |
T |
10: 88,831,114 (GRCm39) |
I468N |
possibly damaging |
Het |
| Apool |
A |
T |
X: 111,274,155 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,101,320 (GRCm39) |
V295A |
probably benign |
Het |
| Ccser2 |
A |
G |
14: 36,662,245 (GRCm39) |
V313A |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,447,271 (GRCm39) |
I325V |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,287,819 (GRCm39) |
D3420G |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,431,366 (GRCm39) |
T395A |
probably benign |
Het |
| Dock2 |
T |
G |
11: 34,623,198 (GRCm39) |
H65P |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,816,759 (GRCm39) |
Q4164L |
possibly damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,619,084 (GRCm39) |
Y96* |
probably null |
Het |
| Gja3 |
T |
A |
14: 57,273,161 (GRCm39) |
K404* |
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,320,362 (GRCm39) |
I3948V |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,808,893 (GRCm39) |
R1090W |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,239,464 (GRCm39) |
H3234R |
unknown |
Het |
| Ifi207 |
T |
A |
1: 173,562,869 (GRCm39) |
E92D |
probably benign |
Het |
| Iqgap2 |
G |
A |
13: 95,810,186 (GRCm39) |
|
probably benign |
Het |
| Itgax |
G |
T |
7: 127,732,939 (GRCm39) |
V273F |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,814,604 (GRCm39) |
M1043V |
probably benign |
Het |
| Lgmn |
T |
C |
12: 102,370,588 (GRCm39) |
N114S |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,081,701 (GRCm39) |
|
probably null |
Het |
| Notch4 |
A |
G |
17: 34,797,071 (GRCm39) |
T940A |
probably damaging |
Het |
| Nudt15 |
T |
A |
14: 73,760,911 (GRCm39) |
Q60L |
probably benign |
Het |
| Or10ag56 |
T |
C |
2: 87,139,526 (GRCm39) |
V151A |
probably benign |
Het |
| Or52e7 |
T |
C |
7: 104,684,896 (GRCm39) |
C164R |
probably benign |
Het |
| Phip |
G |
A |
9: 82,758,179 (GRCm39) |
R1505* |
probably null |
Het |
| Ptger2 |
T |
G |
14: 45,226,784 (GRCm39) |
S121R |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,476,403 (GRCm39) |
F907L |
probably damaging |
Het |
| Silc1 |
T |
A |
12: 27,210,301 (GRCm39) |
|
noncoding transcript |
Het |
| Trpc4 |
C |
A |
3: 54,225,433 (GRCm39) |
F843L |
probably benign |
Het |
| Tysnd1 |
C |
T |
10: 61,531,867 (GRCm39) |
S173L |
possibly damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,293,953 (GRCm39) |
V680D |
possibly damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,327,860 (GRCm39) |
V485I |
probably benign |
Het |
|
| Other mutations in Hdac1-ps |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01936:Hdac1-ps
|
APN |
17 |
78,799,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01983:Hdac1-ps
|
APN |
17 |
78,800,282 (GRCm39) |
missense |
probably benign |
|
|
IGL02543:Hdac1-ps
|
APN |
17 |
78,799,303 (GRCm39) |
missense |
probably damaging |
0.97 |
|
buttress
|
UTSW |
17 |
78,800,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Chartre
|
UTSW |
17 |
78,799,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1174:Hdac1-ps
|
UTSW |
17 |
78,799,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1605:Hdac1-ps
|
UTSW |
17 |
78,799,537 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2416:Hdac1-ps
|
UTSW |
17 |
78,799,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2919:Hdac1-ps
|
UTSW |
17 |
78,800,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2920:Hdac1-ps
|
UTSW |
17 |
78,800,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4544:Hdac1-ps
|
UTSW |
17 |
78,800,388 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4546:Hdac1-ps
|
UTSW |
17 |
78,800,388 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5223:Hdac1-ps
|
UTSW |
17 |
78,799,867 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5297:Hdac1-ps
|
UTSW |
17 |
78,800,187 (GRCm39) |
missense |
probably benign |
|
|
R6164:Hdac1-ps
|
UTSW |
17 |
78,799,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6568:Hdac1-ps
|
UTSW |
17 |
78,800,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6726:Hdac1-ps
|
UTSW |
17 |
78,800,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6901:Hdac1-ps
|
UTSW |
17 |
78,800,089 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6923:Hdac1-ps
|
UTSW |
17 |
78,800,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7838:Hdac1-ps
|
UTSW |
17 |
78,799,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8002:Hdac1-ps
|
UTSW |
17 |
78,799,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8728:Hdac1-ps
|
UTSW |
17 |
78,800,332 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8821:Hdac1-ps
|
UTSW |
17 |
78,799,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8920:Hdac1-ps
|
UTSW |
17 |
78,799,171 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9618:Hdac1-ps
|
UTSW |
17 |
78,799,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Hdac1-ps
|
UTSW |
17 |
78,799,075 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0060:Hdac1-ps
|
UTSW |
17 |
78,799,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCTGACAAACGCATTGC -3'
(R):5'- TTTCTTTCCACGCAAATGGGG -3'
Sequencing Primer
(F):5'- TGACAAACGCATTGCCTGTG -3'
(R):5'- ATGGACAAGGTCGCTCTGG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation