Incidental Mutation 'R5797:Dmap1'
| ID |
447265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmap1
|
| Ensembl Gene |
ENSMUSG00000009640 |
| Gene Name |
DNA methyltransferase 1-associated protein 1 |
| Synonyms |
1500016M21Rik |
| MMRRC Submission |
043209-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5797 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
117531878-117539450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117532677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 333
(V333E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037127]
[ENSMUST00000102687]
|
| AlphaFold |
Q9JI44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037127
|
| SMART Domains |
Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
EXOIII
|
145 |
329 |
1.17e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102687
AA Change: V333E
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099748
Gene: ENSMUSG00000009640
AA Change: V333E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
42 |
N/A |
INTRINSIC |
|
SANT
|
148 |
201 |
3.38e-2 |
SMART |
|
Pfam:DMAP1
|
243 |
404 |
7.1e-76 |
PFAM |
|
low complexity region
|
449 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146384
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation with no 8-cell embryos detected. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
C |
3: 40,887,986 (GRCm39) |
F277L |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,462,505 (GRCm39) |
V170A |
probably damaging |
Het |
| Amz2 |
G |
T |
11: 109,317,905 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,412,074 (GRCm39) |
Y65C |
probably damaging |
Het |
| Canx |
T |
C |
11: 50,191,844 (GRCm39) |
I356V |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,803,438 (GRCm39) |
T1535S |
probably benign |
Het |
| Cts3 |
A |
T |
13: 61,716,206 (GRCm39) |
W52R |
probably damaging |
Het |
| Cyb5rl |
A |
T |
4: 106,941,404 (GRCm39) |
E276D |
possibly damaging |
Het |
| Dhx30 |
T |
C |
9: 109,927,888 (GRCm39) |
N78S |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,898,450 (GRCm39) |
E3744G |
probably benign |
Het |
| Efcab6 |
C |
T |
15: 83,808,478 (GRCm39) |
C828Y |
possibly damaging |
Het |
| Fam227b |
A |
C |
2: 125,849,254 (GRCm39) |
I326S |
probably benign |
Het |
| Fbrs |
C |
A |
7: 127,086,463 (GRCm39) |
H604Q |
probably damaging |
Het |
| Fshr |
T |
G |
17: 89,318,503 (GRCm39) |
N129T |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,170 (GRCm39) |
R401G |
probably damaging |
Het |
| Gm572 |
G |
A |
4: 148,751,255 (GRCm39) |
M209I |
probably benign |
Het |
| Gne |
G |
A |
4: 44,060,030 (GRCm39) |
T121M |
probably damaging |
Het |
| Gnmt |
T |
C |
17: 47,037,305 (GRCm39) |
N160D |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,032,619 (GRCm39) |
Y1125C |
probably damaging |
Het |
| Kif2a |
A |
T |
13: 107,111,884 (GRCm39) |
C524S |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,759 (GRCm39) |
R181H |
probably damaging |
Het |
| Mkln1 |
A |
G |
6: 31,410,004 (GRCm39) |
D214G |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,405,319 (GRCm39) |
T909N |
unknown |
Het |
| Myh13 |
T |
A |
11: 67,225,828 (GRCm39) |
D335E |
possibly damaging |
Het |
| Myo5b |
A |
G |
18: 74,834,592 (GRCm39) |
E884G |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,581,034 (GRCm39) |
D71G |
possibly damaging |
Het |
| Nxpe4 |
T |
A |
9: 48,307,838 (GRCm39) |
I314N |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,228,590 (GRCm39) |
E1525G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,811,615 (GRCm39) |
H153Q |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,555,698 (GRCm39) |
Y2157* |
probably null |
Het |
| Scd3 |
T |
C |
19: 44,203,950 (GRCm39) |
I46T |
probably benign |
Het |
| Sdha |
A |
T |
13: 74,482,476 (GRCm39) |
M279K |
probably damaging |
Het |
| Slco4c1 |
A |
G |
1: 96,746,829 (GRCm39) |
V671A |
probably benign |
Het |
| Slitrk3 |
T |
A |
3: 72,955,962 (GRCm39) |
T937S |
probably damaging |
Het |
| Sncaip |
A |
T |
18: 53,031,276 (GRCm39) |
T442S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,650,473 (GRCm39) |
D1748G |
possibly damaging |
Het |
| Trmt9b |
A |
T |
8: 36,965,569 (GRCm39) |
K30* |
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,233,736 (GRCm39) |
C825* |
probably null |
Het |
|
| Other mutations in Dmap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00786:Dmap1
|
APN |
4 |
117,533,593 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01517:Dmap1
|
APN |
4 |
117,533,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02926:Dmap1
|
APN |
4 |
117,539,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0118:Dmap1
|
UTSW |
4 |
117,533,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1586:Dmap1
|
UTSW |
4 |
117,533,319 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2504:Dmap1
|
UTSW |
4 |
117,532,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2940:Dmap1
|
UTSW |
4 |
117,533,202 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4168:Dmap1
|
UTSW |
4 |
117,538,507 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4723:Dmap1
|
UTSW |
4 |
117,533,236 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4975:Dmap1
|
UTSW |
4 |
117,538,233 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5905:Dmap1
|
UTSW |
4 |
117,533,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5987:Dmap1
|
UTSW |
4 |
117,538,039 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6117:Dmap1
|
UTSW |
4 |
117,532,732 (GRCm39) |
splice site |
probably null |
|
|
R9484:Dmap1
|
UTSW |
4 |
117,533,308 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATGCACCAGCTCCTCTGTG -3'
(R):5'- GGCCTAATGCTACAGCTCTAAG -3'
Sequencing Primer
(F):5'- TGGGGGTAGGGCTCAGC -3'
(R):5'- GCCTAATGCTACAGCTCTAAGTCTAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation