Incidental Mutation 'R2416:Hdac1-ps'
| ID |
249018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac1-ps
|
| Ensembl Gene |
ENSMUSG00000061062 |
| Gene Name |
histone deacetylase 1, pseudogene |
| Synonyms |
EG15181, Gm10093 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R2416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
78799011-78800454 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 78799945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 312
(W312L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079363]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079363
AA Change: W312L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078339
Gene: ENSMUSG00000061062
AA Change: W312L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,791 (GRCm39) |
D58G |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,162,457 (GRCm39) |
R755G |
probably damaging |
Het |
| Bard1 |
G |
T |
1: 71,113,811 (GRCm39) |
T390N |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,092 (GRCm39) |
L1480* |
probably null |
Het |
| Cryba1 |
T |
A |
11: 77,611,726 (GRCm39) |
I116F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,448,285 (GRCm39) |
S125P |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,795,246 (GRCm39) |
*492W |
probably null |
Het |
| Eif3m |
G |
T |
2: 104,844,178 (GRCm39) |
P76T |
probably benign |
Het |
| Eya1 |
A |
G |
1: 14,340,927 (GRCm39) |
|
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,479,420 (GRCm39) |
I2822T |
probably damaging |
Het |
| Glyat |
T |
A |
19: 12,628,618 (GRCm39) |
S138T |
possibly damaging |
Het |
| Gpr160 |
A |
G |
3: 30,950,158 (GRCm39) |
T77A |
probably benign |
Het |
| Krt19 |
T |
C |
11: 100,036,433 (GRCm39) |
I85V |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,265,656 (GRCm39) |
I297T |
probably damaging |
Het |
| Park7 |
A |
G |
4: 150,992,858 (GRCm39) |
S3P |
probably benign |
Het |
| Rtel1 |
C |
T |
2: 180,982,324 (GRCm39) |
T358I |
possibly damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,422,803 (GRCm39) |
L311P |
probably damaging |
Het |
| Ulk2 |
C |
T |
11: 61,672,865 (GRCm39) |
G910R |
probably damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,803,283 (GRCm39) |
R462H |
probably benign |
Het |
| Zfp382 |
A |
G |
7: 29,833,828 (GRCm39) |
Y493C |
probably damaging |
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 |
|
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 |
|
R3846:Hdac1-ps
|
UTSW |
17 |
78,800,401 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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'- AGCCACCTTTAAGCCAGTCATG -3'
(R):5'- CCTCAAGTTCTCAAAGAGACGC -3'
Sequencing Primer
(F):5'- AGATGTTCCAGCCTAGTGCAG -3'
(R):5'- TCTCAAAGAGACGCTGCTTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation