Incidental Mutation 'R6568:Hdac1-ps'
| ID |
526176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hdac1-ps
|
| Ensembl Gene |
ENSMUSG00000061062 |
| Gene Name |
histone deacetylase 1, pseudogene |
| Synonyms |
EG15181, Gm10093 |
| MMRRC Submission |
044692-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R6568 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
78799011-78800454 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78800017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 336
(Y336C)
|
| 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: Y336C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078339
Gene: ENSMUSG00000061062
AA Change: Y336C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
C |
1: 138,779,872 (GRCm39) |
K127E |
possibly damaging |
Het |
| Ash1l |
G |
A |
3: 88,959,344 (GRCm39) |
M2240I |
probably benign |
Het |
| Bhmt1b |
A |
T |
18: 87,775,566 (GRCm39) |
Y363F |
probably benign |
Het |
| Ccr5 |
G |
A |
9: 123,925,236 (GRCm39) |
A280T |
probably damaging |
Het |
| Ceacam5 |
C |
T |
7: 17,479,416 (GRCm39) |
L178F |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,875,157 (GRCm39) |
N1259S |
unknown |
Het |
| Doc2b |
A |
C |
11: 75,667,820 (GRCm39) |
|
probably null |
Het |
| Fryl |
T |
C |
5: 73,216,859 (GRCm39) |
N2144D |
probably damaging |
Het |
| Ighv1-34 |
A |
T |
12: 114,815,231 (GRCm39) |
W5R |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,122,434 (GRCm39) |
V497A |
probably benign |
Het |
| Miip |
T |
A |
4: 147,950,372 (GRCm39) |
M75L |
probably benign |
Het |
| Mplkip |
T |
C |
13: 17,870,262 (GRCm39) |
S65P |
probably damaging |
Het |
| Ms4a13 |
A |
G |
19: 11,168,923 (GRCm39) |
L34P |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,559,855 (GRCm39) |
S896P |
probably benign |
Het |
| Or5ac17 |
A |
T |
16: 59,036,641 (GRCm39) |
C112S |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,470,767 (GRCm39) |
M136K |
probably damaging |
Het |
| Rgsl1 |
A |
C |
1: 153,697,292 (GRCm39) |
W508G |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,038,908 (GRCm39) |
M354K |
probably damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,226,476 (GRCm39) |
L533P |
probably damaging |
Het |
| Taf2 |
G |
A |
15: 54,928,026 (GRCm39) |
L126F |
probably damaging |
Het |
| Tlr12 |
T |
C |
4: 128,511,785 (GRCm39) |
D155G |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Zfp942 |
T |
G |
17: 22,148,043 (GRCm39) |
K195N |
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 |
|
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 |
|
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'- TTGCTTCAATCTGACCATCAAAGG -3'
(R):5'- AGATGCGTTTGTCAGGGTCC -3'
Sequencing Primer
(F):5'- TTCAATCTGACCATCAAAGGACACG -3'
(R):5'- GCGTTTGTCAGGGTCCTCCTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation