Incidental Mutation 'IGL01118:Dnmt3l'
| ID |
52117 |
| 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 # |
IGL01118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77878121-77899456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77893120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 299
(F299S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000746]
[ENSMUST00000123940]
[ENSMUST00000131825]
[ENSMUST00000138785]
[ENSMUST00000139539]
[ENSMUST00000151242]
|
| AlphaFold |
Q9CWR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000746
AA Change: F299S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000000746
Gene: ENSMUSG00000000730
AA Change: F299S
| 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 damaging
Transcript: ENSMUST00000123940
AA Change: F4S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123015
Gene: ENSMUSG00000000730
AA Change: F4S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2QRV|G
|
1 |
120 |
1e-38 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131825
AA Change: F4S
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119571
Gene: ENSMUSG00000000730
AA Change: F4S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2QRV|G
|
1 |
120 |
1e-38 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138785
AA Change: F299S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121562
Gene: ENSMUSG00000000730
AA Change: F299S
| 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 damaging
Transcript: ENSMUST00000139539
AA Change: F4S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117827
Gene: ENSMUSG00000000730
AA Change: F4S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2QRV|G
|
1 |
120 |
1e-38 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144446
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151242
AA Change: F299S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116970
Gene: ENSMUSG00000000730
AA Change: F299S
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
T |
3: 124,195,058 (GRCm39) |
R539Q |
probably benign |
Het |
| Abcb1a |
G |
A |
5: 8,724,687 (GRCm39) |
R40H |
probably damaging |
Het |
| Acan |
T |
A |
7: 78,748,401 (GRCm39) |
S1057R |
possibly damaging |
Het |
| Ahnak |
A |
T |
19: 8,989,942 (GRCm39) |
D3742V |
probably damaging |
Het |
| Amdhd1 |
A |
T |
10: 93,367,430 (GRCm39) |
D241E |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,831,565 (GRCm39) |
Y605C |
possibly damaging |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,212 (GRCm39) |
N116Y |
probably damaging |
Het |
| Ess2 |
A |
T |
16: 17,720,796 (GRCm39) |
I350N |
probably damaging |
Het |
| G6pd2 |
A |
T |
5: 61,967,406 (GRCm39) |
M394L |
probably benign |
Het |
| Gm9839 |
A |
T |
1: 32,558,924 (GRCm39) |
M386K |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
| Hgs |
T |
C |
11: 120,366,040 (GRCm39) |
V195A |
probably damaging |
Het |
| Igkv3-2 |
A |
T |
6: 70,675,978 (GRCm39) |
S96C |
probably damaging |
Het |
| Mgl2 |
A |
G |
11: 70,025,015 (GRCm39) |
E12G |
probably benign |
Het |
| Mup11 |
A |
T |
4: 60,615,779 (GRCm39) |
F153I |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,437,812 (GRCm39) |
C2057S |
probably damaging |
Het |
| Nkrf |
A |
G |
X: 36,152,410 (GRCm39) |
F624S |
probably damaging |
Het |
| Noto |
T |
C |
6: 85,401,192 (GRCm39) |
S74P |
probably benign |
Het |
| Or8k40 |
A |
G |
2: 86,584,314 (GRCm39) |
I256T |
probably benign |
Het |
| Pax8 |
T |
C |
2: 24,332,944 (GRCm39) |
|
probably benign |
Het |
| Psg28 |
A |
T |
7: 18,162,017 (GRCm39) |
V162D |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,078,264 (GRCm39) |
F776S |
probably damaging |
Het |
| Taar8a |
A |
T |
10: 23,952,759 (GRCm39) |
H121L |
probably damaging |
Het |
| Tas2r113 |
A |
G |
6: 132,870,278 (GRCm39) |
N102S |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,885,572 (GRCm39) |
T863A |
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,874,413 (GRCm39) |
|
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,942,206 (GRCm39) |
H611R |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,073,661 (GRCm39) |
L762Q |
probably damaging |
Het |
| Yeats2 |
T |
G |
16: 20,005,054 (GRCm39) |
S364A |
probably damaging |
Het |
| Zdhhc15 |
G |
T |
X: 103,641,712 (GRCm39) |
Q82K |
probably benign |
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 |
|
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 |
|
IGL02618:Dnmt3l
|
APN |
10 |
77,889,856 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-06-21 |
Incidental Mutation