Incidental Mutation 'R5483:Dnmt3a'
| ID |
434439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dnmt3a
|
| Ensembl Gene |
ENSMUSG00000020661 |
| Gene Name |
DNA methyltransferase 3A |
| Synonyms |
|
| MMRRC Submission |
043044-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.404)
|
| Stock # |
R5483 (G1)
|
| Quality Score |
150 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
3856007-3964443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3949615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 524
(Y524C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020991]
[ENSMUST00000111186]
[ENSMUST00000172509]
[ENSMUST00000172689]
[ENSMUST00000172879]
[ENSMUST00000174102]
[ENSMUST00000174817]
[ENSMUST00000174774]
[ENSMUST00000174483]
|
| AlphaFold |
O88508 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020991
AA Change: Y524C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020991
Gene: ENSMUSG00000020661
AA Change: Y524C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
15 |
37 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
55 |
101 |
6.44e-5 |
PROSPERO |
|
low complexity region
|
109 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
241 |
283 |
6.44e-5 |
PROSPERO |
|
PWWP
|
286 |
344 |
1.36e-24 |
SMART |
|
low complexity region
|
412 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
453 |
N/A |
INTRINSIC |
|
PDB:3A1B|A
|
454 |
610 |
2e-99 |
PDB |
|
Blast:RING
|
533 |
582 |
1e-17 |
BLAST |
|
Pfam:DNA_methylase
|
630 |
772 |
2.1e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111186
AA Change: Y305C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106817
Gene: ENSMUSG00000020661
AA Change: Y305C
| Domain | Start | End | E-Value | Type |
|---|
|
PWWP
|
67 |
125 |
1.36e-24 |
SMART |
|
low complexity region
|
193 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
234 |
N/A |
INTRINSIC |
|
PDB:3A1B|A
|
235 |
391 |
1e-101 |
PDB |
|
Blast:RING
|
314 |
363 |
4e-16 |
BLAST |
|
Pfam:DNA_methylase
|
411 |
554 |
9.5e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172509
|
| SMART Domains |
Protein: ENSMUSP00000133869
Gene: ENSMUSG00000020661
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
|
PWWP
|
212 |
270 |
1.36e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172689
AA Change: Y305C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133543
Gene: ENSMUSG00000020661
AA Change: Y305C
| Domain | Start | End | E-Value | Type |
|---|
|
PWWP
|
67 |
125 |
1.36e-24 |
SMART |
|
low complexity region
|
193 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
234 |
N/A |
INTRINSIC |
|
PDB:3A1B|A
|
235 |
391 |
1e-101 |
PDB |
|
Blast:RING
|
314 |
363 |
4e-16 |
BLAST |
|
Pfam:DNA_methylase
|
411 |
554 |
9.5e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172749
|
| SMART Domains |
Protein: ENSMUSP00000134567
Gene: ENSMUSG00000020661
| Domain | Start | End | E-Value | Type |
|---|
|
PWWP
|
61 |
119 |
7.62e-19 |
SMART |
|
low complexity region
|
151 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172879
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174102
|
| SMART Domains |
Protein: ENSMUSP00000134480
Gene: ENSMUSG00000020661
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWWP
|
101 |
140 |
2e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174272
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174817
AA Change: Y524C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134009
Gene: ENSMUSG00000020661
AA Change: Y524C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
15 |
37 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
55 |
101 |
6.44e-5 |
PROSPERO |
|
low complexity region
|
109 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
241 |
283 |
6.44e-5 |
PROSPERO |
|
PWWP
|
286 |
344 |
1.36e-24 |
SMART |
|
low complexity region
|
412 |
430 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
453 |
N/A |
INTRINSIC |
|
PDB:3A1B|A
|
454 |
610 |
2e-99 |
PDB |
|
Blast:RING
|
533 |
582 |
1e-17 |
BLAST |
|
Pfam:DNA_methylase
|
630 |
772 |
2.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174774
|
| SMART Domains |
Protein: ENSMUSP00000134529
Gene: ENSMUSG00000020661
| Domain | Start | End | E-Value | Type |
|---|
|
PWWP
|
67 |
125 |
1.36e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174733
|
| SMART Domains |
Protein: ENSMUSP00000134492
Gene: ENSMUSG00000020661
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DNA_methylase
|
16 |
104 |
8.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174483
|
| SMART Domains |
Protein: ENSMUSP00000133938
Gene: ENSMUSG00000020661
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.5%
- 10x: 94.8%
- 20x: 89.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This is one of two related genes encoding de novo DNA methyltransferases, which are responsible for the establishment of DNA methylation patterns in embryos. Loss of function of this gene causes developmental defects in multiple different organ systems. There is a pseudogene for this gene located on chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for a targeted null mutation become runted and die around four weeks of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap206 |
G |
T |
4: 34,711,404 (GRCm39) |
Q498K |
probably benign |
Het |
| Dnttip2 |
A |
T |
3: 122,070,446 (GRCm39) |
T554S |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,102,687 (GRCm39) |
T949A |
probably damaging |
Het |
| Enkur |
A |
T |
2: 21,199,109 (GRCm39) |
F142I |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,002 (GRCm39) |
A362T |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,413,795 (GRCm39) |
H124R |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,788,290 (GRCm39) |
I1011N |
possibly damaging |
Het |
| Ipo5 |
T |
A |
14: 121,157,450 (GRCm39) |
I96N |
probably benign |
Het |
| Kctd16 |
A |
G |
18: 40,663,929 (GRCm39) |
I353V |
probably benign |
Het |
| Klf11 |
T |
A |
12: 24,705,410 (GRCm39) |
L288* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,735,921 (GRCm39) |
|
probably benign |
Het |
| Lmbrd1 |
T |
C |
1: 24,783,989 (GRCm39) |
Y373H |
probably damaging |
Het |
| Mlh1 |
G |
A |
9: 111,060,126 (GRCm39) |
A584V |
possibly damaging |
Het |
| Ociad1 |
T |
C |
5: 73,452,314 (GRCm39) |
F35S |
probably damaging |
Het |
| Or11l3 |
T |
A |
11: 58,516,783 (GRCm39) |
I30F |
possibly damaging |
Het |
| Or6c208 |
T |
C |
10: 129,223,526 (GRCm39) |
I8T |
probably benign |
Het |
| Or8u3-ps |
C |
T |
2: 85,952,962 (GRCm39) |
Q232* |
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,851,141 (GRCm39) |
|
probably null |
Het |
| Pole |
T |
A |
5: 110,442,434 (GRCm39) |
D287E |
probably damaging |
Het |
| Polh |
G |
T |
17: 46,483,671 (GRCm39) |
S531R |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,177 (GRCm39) |
K207R |
probably benign |
Het |
| Rasgrp3 |
T |
G |
17: 75,832,013 (GRCm39) |
S611R |
probably damaging |
Het |
| Rffl |
G |
T |
11: 82,703,549 (GRCm39) |
|
probably null |
Het |
| Scrib |
A |
G |
15: 75,939,508 (GRCm39) |
|
probably null |
Het |
| Serpinb3a |
T |
A |
1: 106,974,899 (GRCm39) |
K211N |
probably benign |
Het |
| Slc22a3 |
C |
T |
17: 12,683,354 (GRCm39) |
A170T |
probably damaging |
Het |
| Socs5 |
T |
G |
17: 87,442,402 (GRCm39) |
F447L |
probably damaging |
Het |
| Srrm2 |
T |
A |
17: 24,040,246 (GRCm39) |
S2393T |
probably damaging |
Het |
| Usp7 |
T |
A |
16: 8,516,404 (GRCm39) |
Y585F |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,153,564 (GRCm39) |
I670N |
probably benign |
Het |
|
| Other mutations in Dnmt3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00844:Dnmt3a
|
APN |
12 |
3,955,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02255:Dnmt3a
|
APN |
12 |
3,922,886 (GRCm39) |
splice site |
probably benign |
|
|
IGL02815:Dnmt3a
|
APN |
12 |
3,954,226 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03372:Dnmt3a
|
APN |
12 |
3,952,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Chromos
|
UTSW |
12 |
3,951,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Compaction
|
UTSW |
12 |
3,916,192 (GRCm39) |
nonsense |
probably null |
|
|
R0028:Dnmt3a
|
UTSW |
12 |
3,950,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0306:Dnmt3a
|
UTSW |
12 |
3,916,096 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0843:Dnmt3a
|
UTSW |
12 |
3,922,886 (GRCm39) |
splice site |
probably benign |
|
|
R1055:Dnmt3a
|
UTSW |
12 |
3,922,864 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1465:Dnmt3a
|
UTSW |
12 |
3,916,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Dnmt3a
|
UTSW |
12 |
3,916,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Dnmt3a
|
UTSW |
12 |
3,951,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1680:Dnmt3a
|
UTSW |
12 |
3,923,361 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1753:Dnmt3a
|
UTSW |
12 |
3,923,342 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2055:Dnmt3a
|
UTSW |
12 |
3,922,859 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2219:Dnmt3a
|
UTSW |
12 |
3,899,654 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2267:Dnmt3a
|
UTSW |
12 |
3,947,551 (GRCm39) |
splice site |
probably null |
|
|
R2359:Dnmt3a
|
UTSW |
12 |
3,951,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2384:Dnmt3a
|
UTSW |
12 |
3,951,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2403:Dnmt3a
|
UTSW |
12 |
3,949,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2884:Dnmt3a
|
UTSW |
12 |
3,946,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3027:Dnmt3a
|
UTSW |
12 |
3,899,626 (GRCm39) |
splice site |
probably null |
|
|
R4281:Dnmt3a
|
UTSW |
12 |
3,951,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4282:Dnmt3a
|
UTSW |
12 |
3,951,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4283:Dnmt3a
|
UTSW |
12 |
3,951,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4809:Dnmt3a
|
UTSW |
12 |
3,950,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5154:Dnmt3a
|
UTSW |
12 |
3,946,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5361:Dnmt3a
|
UTSW |
12 |
3,945,643 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5768:Dnmt3a
|
UTSW |
12 |
3,935,660 (GRCm39) |
splice site |
probably null |
|
|
R5928:Dnmt3a
|
UTSW |
12 |
3,916,096 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6432:Dnmt3a
|
UTSW |
12 |
3,952,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6552:Dnmt3a
|
UTSW |
12 |
3,957,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6783:Dnmt3a
|
UTSW |
12 |
3,947,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6850:Dnmt3a
|
UTSW |
12 |
3,947,600 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7106:Dnmt3a
|
UTSW |
12 |
3,947,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7145:Dnmt3a
|
UTSW |
12 |
3,922,844 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7149:Dnmt3a
|
UTSW |
12 |
3,952,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Dnmt3a
|
UTSW |
12 |
3,922,850 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7490:Dnmt3a
|
UTSW |
12 |
3,954,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7588:Dnmt3a
|
UTSW |
12 |
3,946,080 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7684:Dnmt3a
|
UTSW |
12 |
3,947,340 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8058:Dnmt3a
|
UTSW |
12 |
3,952,768 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8316:Dnmt3a
|
UTSW |
12 |
3,946,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8345:Dnmt3a
|
UTSW |
12 |
3,885,234 (GRCm39) |
missense |
unknown |
|
|
R8464:Dnmt3a
|
UTSW |
12 |
3,949,635 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8914:Dnmt3a
|
UTSW |
12 |
3,916,192 (GRCm39) |
nonsense |
probably null |
|
|
R9131:Dnmt3a
|
UTSW |
12 |
3,916,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9246:Dnmt3a
|
UTSW |
12 |
3,949,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9476:Dnmt3a
|
UTSW |
12 |
3,957,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9485:Dnmt3a
|
UTSW |
12 |
3,916,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9598:Dnmt3a
|
UTSW |
12 |
3,946,997 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9709:Dnmt3a
|
UTSW |
12 |
3,957,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Dnmt3a
|
UTSW |
12 |
3,954,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTGAGTCTTGGCCTCACG -3'
(R):5'- CTCATTGGCTGAGGTCTAGCAG -3'
Sequencing Primer
(F):5'- TCACGTGGGCAGGAGTG -3'
(R):5'- TGAGGTCTAGCAGCAGGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation