Incidental Mutation 'IGL02618:Dnmt3l'
| ID |
300756 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dnmt3l
|
| Ensembl Gene |
ENSMUSG00000000730 |
| Gene Name |
DNA methyltransferase 3-like |
| Synonyms |
D6Ertd14e, ecat7 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02618
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77878121-77899456 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 77889856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000746]
[ENSMUST00000123940]
[ENSMUST00000131825]
[ENSMUST00000138785]
[ENSMUST00000139539]
[ENSMUST00000151242]
|
| AlphaFold |
Q9CWR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000746
|
| SMART Domains |
Protein: ENSMUSP00000000746
Gene: ENSMUSG00000000730
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
32 |
N/A |
INTRINSIC |
|
PDB:2PVC|C
|
38 |
415 |
1e-163 |
PDB |
|
SCOP:d1fp0a1
|
123 |
191 |
5e-3 |
SMART |
|
Blast:RING
|
130 |
179 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123940
|
| SMART Domains |
Protein: ENSMUSP00000123015
Gene: ENSMUSG00000000730
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2QRV|G
|
1 |
120 |
1e-38 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131825
|
| SMART Domains |
Protein: ENSMUSP00000119571
Gene: ENSMUSG00000000730
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2QRV|G
|
1 |
120 |
1e-38 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138785
|
| SMART Domains |
Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
32 |
N/A |
INTRINSIC |
|
PDB:2PVC|C
|
38 |
415 |
1e-163 |
PDB |
|
SCOP:d1fp0a1
|
123 |
191 |
5e-3 |
SMART |
|
Blast:RING
|
130 |
179 |
1e-18 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139539
|
| SMART Domains |
Protein: ENSMUSP00000117827
Gene: ENSMUSG00000000730
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2QRV|G
|
1 |
120 |
1e-38 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144446
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151242
|
| SMART Domains |
Protein: ENSMUSP00000116970
Gene: ENSMUSG00000000730
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
32 |
N/A |
INTRINSIC |
|
PDB:2PVC|C
|
38 |
415 |
1e-163 |
PDB |
|
SCOP:d1fp0a1
|
123 |
191 |
5e-3 |
SMART |
|
Blast:RING
|
130 |
179 |
1e-18 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein that is a catalytically inactive regulatory factor of DNA methyltransferases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutants in this imprinted gene lack appropriate methylation of the maternal allele and this, in turn, causes azoospermia in homozygous males; and heterozygous progeny of homozygous females die by midgestation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
A |
12: 55,104,086 (GRCm39) |
Q178* |
probably null |
Het |
| Adgre1 |
T |
A |
17: 57,751,021 (GRCm39) |
V565E |
possibly damaging |
Het |
| Arfgef2 |
C |
A |
2: 166,695,233 (GRCm39) |
N535K |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,068,161 (GRCm39) |
L161S |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,199,274 (GRCm39) |
S224P |
probably damaging |
Het |
| Car2 |
A |
G |
3: 14,963,032 (GRCm39) |
D189G |
probably benign |
Het |
| Catsperb |
A |
T |
12: 101,446,983 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
C |
T |
12: 100,879,812 (GRCm39) |
V1770I |
probably benign |
Het |
| Cebpe |
T |
C |
14: 54,948,234 (GRCm39) |
D203G |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,197,422 (GRCm39) |
N104S |
probably damaging |
Het |
| Clec2i |
G |
A |
6: 128,873,464 (GRCm39) |
C231Y |
probably damaging |
Het |
| Col4a5 |
C |
T |
X: 140,466,678 (GRCm39) |
P1557S |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,813,543 (GRCm39) |
N498S |
probably benign |
Het |
| Ctnnal1 |
A |
T |
4: 56,817,060 (GRCm39) |
D587E |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,971,265 (GRCm39) |
V100A |
probably benign |
Het |
| Frk |
C |
T |
10: 34,459,960 (GRCm39) |
T185I |
possibly damaging |
Het |
| Frmd4b |
G |
A |
6: 97,285,066 (GRCm39) |
Q340* |
probably null |
Het |
| Lima1 |
C |
A |
15: 99,700,097 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,882,486 (GRCm39) |
L522P |
probably damaging |
Het |
| Ndrg1 |
G |
A |
15: 66,812,086 (GRCm39) |
H202Y |
probably benign |
Het |
| Nxpe2 |
T |
G |
9: 48,237,634 (GRCm39) |
N207T |
probably damaging |
Het |
| Or5ac19 |
A |
T |
16: 59,089,290 (GRCm39) |
S247T |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,186,068 (GRCm39) |
|
probably benign |
Het |
| Pinx1 |
A |
G |
14: 64,105,969 (GRCm39) |
D75G |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,823,130 (GRCm39) |
D370E |
probably benign |
Het |
| Polb |
A |
T |
8: 23,127,109 (GRCm39) |
L228Q |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,983,938 (GRCm39) |
I521N |
possibly damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,627,955 (GRCm39) |
D1045G |
probably damaging |
Het |
| Rbks |
A |
T |
5: 31,781,863 (GRCm39) |
Y312* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Src |
A |
T |
2: 157,306,698 (GRCm39) |
K234* |
probably null |
Het |
| Stk36 |
C |
A |
1: 74,670,834 (GRCm39) |
|
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,038,388 (GRCm39) |
C412F |
probably benign |
Het |
| Zfp58 |
A |
G |
13: 67,639,475 (GRCm39) |
F339L |
possibly damaging |
Het |
|
| Other mutations in Dnmt3l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Dnmt3l
|
APN |
10 |
77,893,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00827:Dnmt3l
|
APN |
10 |
77,889,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01072:Dnmt3l
|
APN |
10 |
77,888,605 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01118:Dnmt3l
|
APN |
10 |
77,893,120 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01553:Dnmt3l
|
APN |
10 |
77,899,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02322:Dnmt3l
|
APN |
10 |
77,888,572 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02323:Dnmt3l
|
APN |
10 |
77,899,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02701:Dnmt3l
|
APN |
10 |
77,890,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02950:Dnmt3l
|
APN |
10 |
77,886,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0318:Dnmt3l
|
UTSW |
10 |
77,890,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0384:Dnmt3l
|
UTSW |
10 |
77,888,571 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0391:Dnmt3l
|
UTSW |
10 |
77,887,750 (GRCm39) |
splice site |
probably benign |
|
|
R1144:Dnmt3l
|
UTSW |
10 |
77,887,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Dnmt3l
|
UTSW |
10 |
77,888,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Dnmt3l
|
UTSW |
10 |
77,899,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2116:Dnmt3l
|
UTSW |
10 |
77,899,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2117:Dnmt3l
|
UTSW |
10 |
77,899,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4812:Dnmt3l
|
UTSW |
10 |
77,893,128 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5001:Dnmt3l
|
UTSW |
10 |
77,895,565 (GRCm39) |
missense |
probably null |
1.00 |
|
R5039:Dnmt3l
|
UTSW |
10 |
77,888,734 (GRCm39) |
splice site |
probably null |
|
|
R5389:Dnmt3l
|
UTSW |
10 |
77,892,665 (GRCm39) |
splice site |
probably null |
|
|
R5799:Dnmt3l
|
UTSW |
10 |
77,887,860 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5811:Dnmt3l
|
UTSW |
10 |
77,887,929 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5875:Dnmt3l
|
UTSW |
10 |
77,889,772 (GRCm39) |
missense |
probably benign |
|
|
R6314:Dnmt3l
|
UTSW |
10 |
77,895,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6537:Dnmt3l
|
UTSW |
10 |
77,887,898 (GRCm39) |
missense |
probably null |
1.00 |
|
R8437:Dnmt3l
|
UTSW |
10 |
77,888,602 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9108:Dnmt3l
|
UTSW |
10 |
77,892,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9171:Dnmt3l
|
UTSW |
10 |
77,895,518 (GRCm39) |
missense |
probably benign |
|
|
R9205:Dnmt3l
|
UTSW |
10 |
77,892,586 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9473:Dnmt3l
|
UTSW |
10 |
77,886,022 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation