Incidental Mutation 'R5324:N6amt1'
| ID |
405035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
N6amt1
|
| Ensembl Gene |
ENSMUSG00000044442 |
| Gene Name |
N-6 adenine-specific DNA methyltransferase 1 (putative) |
| Synonyms |
5830445C04Rik, Hemk2, Pred28 |
| MMRRC Submission |
042907-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5324 (G1)
|
| Quality Score |
124 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
87151073-87165537 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87151241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 34
(D34G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054442]
[ENSMUST00000118115]
[ENSMUST00000118310]
[ENSMUST00000120284]
|
| AlphaFold |
Q6SKR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054442
AA Change: D34G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000061835
Gene: ENSMUSG00000044442
AA Change: D34G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MTS
|
26 |
202 |
4.2e-12 |
PFAM |
|
Pfam:Methyltransf_26
|
45 |
175 |
6.7e-15 |
PFAM |
|
Pfam:Methyltransf_31
|
45 |
213 |
5.2e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118115
AA Change: D34G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113217
Gene: ENSMUSG00000044442
AA Change: D34G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MTS
|
21 |
179 |
2e-14 |
PFAM |
|
Pfam:Methyltransf_26
|
46 |
175 |
1.6e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118310
AA Change: D34G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113229
Gene: ENSMUSG00000044442
AA Change: D34G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MTS
|
20 |
137 |
1.7e-12 |
PFAM |
|
Pfam:PrmA
|
27 |
123 |
6.9e-7 |
PFAM |
|
Pfam:Methyltransf_26
|
45 |
137 |
2.7e-13 |
PFAM |
|
Pfam:Methyltransf_25
|
49 |
138 |
6.9e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120284
AA Change: D34G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112510
Gene: ENSMUSG00000044442
AA Change: D34G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MTS
|
20 |
150 |
3.4e-12 |
PFAM |
|
Pfam:PrmA
|
27 |
123 |
1.4e-6 |
PFAM |
|
Pfam:Methyltransf_26
|
46 |
148 |
1.4e-12 |
PFAM |
|
Pfam:Methyltransf_25
|
49 |
147 |
1.7e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing pf this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele fail to form a primitive streak and die between E7.5 and E9.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ap5b1 |
G |
A |
19: 5,619,863 (GRCm39) |
E428K |
possibly damaging |
Het |
| Bmp2 |
C |
T |
2: 133,403,279 (GRCm39) |
R277* |
probably null |
Het |
| Cbl |
A |
T |
9: 44,065,551 (GRCm39) |
S659T |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,201,841 (GRCm39) |
H43L |
unknown |
Het |
| Corin |
A |
G |
5: 72,592,600 (GRCm39) |
C133R |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,609,652 (GRCm39) |
N401S |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,132,227 (GRCm39) |
D508G |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,348,819 (GRCm39) |
H2556L |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,140,458 (GRCm39) |
F1333L |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,005,660 (GRCm39) |
K717E |
possibly damaging |
Het |
| Fmn2 |
G |
A |
1: 174,436,446 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hbp1 |
T |
C |
12: 31,978,617 (GRCm39) |
N510S |
probably damaging |
Het |
| Lrguk |
T |
C |
6: 34,050,732 (GRCm39) |
S397P |
possibly damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,953,570 (GRCm39) |
D617V |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Nktr |
A |
T |
9: 121,556,412 (GRCm39) |
D30V |
probably damaging |
Het |
| Or52ab7 |
T |
A |
7: 102,978,257 (GRCm39) |
M188K |
probably damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,040 (GRCm39) |
I174F |
probably damaging |
Het |
| Or6c212 |
T |
A |
10: 129,558,814 (GRCm39) |
I200L |
probably benign |
Het |
| Pabpc1 |
A |
G |
15: 36,600,869 (GRCm39) |
F314L |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,821,345 (GRCm39) |
V226M |
probably damaging |
Het |
| Parp12 |
A |
T |
6: 39,079,546 (GRCm39) |
D321E |
probably damaging |
Het |
| Plch2 |
T |
A |
4: 155,068,991 (GRCm39) |
T1107S |
probably benign |
Het |
| Psma2 |
T |
C |
13: 14,799,802 (GRCm39) |
L182P |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,105,401 (GRCm39) |
Y196C |
probably benign |
Het |
| Rdh16 |
G |
A |
10: 127,637,136 (GRCm39) |
V24M |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,310,041 (GRCm39) |
T105A |
possibly damaging |
Het |
| Serpini1 |
T |
C |
3: 75,547,601 (GRCm39) |
I371T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,191,674 (GRCm39) |
N920S |
probably benign |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,704,837 (GRCm39) |
D27V |
possibly damaging |
Het |
| Zfp747l1 |
G |
T |
7: 126,984,079 (GRCm39) |
|
probably benign |
Het |
| Zxdc |
T |
A |
6: 90,350,782 (GRCm39) |
I411N |
probably damaging |
Het |
|
| Other mutations in N6amt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1079:N6amt1
|
UTSW |
16 |
87,153,086 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3028:N6amt1
|
UTSW |
16 |
87,159,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4692:N6amt1
|
UTSW |
16 |
87,153,854 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5686:N6amt1
|
UTSW |
16 |
87,151,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:N6amt1
|
UTSW |
16 |
87,151,180 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7223:N6amt1
|
UTSW |
16 |
87,159,548 (GRCm39) |
makesense |
probably null |
|
|
R7419:N6amt1
|
UTSW |
16 |
87,164,454 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8084:N6amt1
|
UTSW |
16 |
87,151,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9434:N6amt1
|
UTSW |
16 |
87,159,421 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTGTAAGACAAAAGCGC -3'
(R):5'- GAGGCGCGTTTACATTCTTC -3'
Sequencing Primer
(F):5'- AGACAAAAGCGCATGCGCAGCAAGCC -3'
(R):5'- GGCGCGTTTACATTCTTCAGATTAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation