Incidental Mutation 'IGL00160:Dnmt3l'
ID |
1236 |
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 # |
IGL00160
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
77878121-77899456 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77893189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 322
(D322G)
|
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: D322G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000746 Gene: ENSMUSG00000000730 AA Change: D322G
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: D27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123015 Gene: ENSMUSG00000000730 AA Change: D27G
Domain | Start | End | E-Value | Type |
PDB:2QRV|G
|
1 |
120 |
1e-38 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131825
AA Change: D27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119571 Gene: ENSMUSG00000000730 AA Change: D27G
Domain | Start | End | E-Value | Type |
PDB:2QRV|G
|
1 |
120 |
1e-38 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138785
AA Change: D322G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121562 Gene: ENSMUSG00000000730 AA Change: D322G
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: D27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117827 Gene: ENSMUSG00000000730 AA Change: D27G
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: D322G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116970 Gene: ENSMUSG00000000730 AA Change: D322G
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
C |
T |
2: 68,563,219 (GRCm39) |
A387V |
probably benign |
Het |
Adamts3 |
C |
T |
5: 90,009,184 (GRCm39) |
V160I |
probably damaging |
Het |
Arhgef26 |
T |
C |
3: 62,247,804 (GRCm39) |
V296A |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,197,706 (GRCm39) |
M893K |
probably benign |
Het |
Camk2d |
T |
A |
3: 126,631,921 (GRCm39) |
C407* |
probably null |
Het |
Ces1h |
T |
C |
8: 94,084,091 (GRCm39) |
D373G |
probably benign |
Het |
Ces2f |
A |
T |
8: 105,676,605 (GRCm39) |
N100Y |
probably damaging |
Het |
Ces2f |
A |
T |
8: 105,676,604 (GRCm39) |
Q99H |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,241,229 (GRCm39) |
T223A |
probably damaging |
Het |
Dnai7 |
T |
A |
6: 145,121,016 (GRCm39) |
H601L |
probably benign |
Het |
Fam243 |
T |
C |
16: 92,117,890 (GRCm39) |
K133E |
possibly damaging |
Het |
Fbxl20 |
C |
T |
11: 97,981,500 (GRCm39) |
G396D |
possibly damaging |
Het |
Garre1 |
G |
A |
7: 33,938,431 (GRCm39) |
H1035Y |
possibly damaging |
Het |
Gldc |
T |
C |
19: 30,092,640 (GRCm39) |
T760A |
probably damaging |
Het |
Gm6483 |
T |
A |
8: 19,741,663 (GRCm39) |
|
noncoding transcript |
Het |
Hcrtr2 |
A |
T |
9: 76,135,437 (GRCm39) |
V460D |
possibly damaging |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mrgpra2a |
A |
T |
7: 47,076,286 (GRCm39) |
M324K |
probably damaging |
Het |
N4bp3 |
C |
T |
11: 51,536,143 (GRCm39) |
A230T |
probably benign |
Het |
Nphs1 |
T |
G |
7: 30,181,976 (GRCm39) |
W1204G |
possibly damaging |
Het |
Obscn |
C |
A |
11: 58,892,883 (GRCm39) |
A6788S |
probably benign |
Het |
Ofcc1 |
T |
C |
13: 40,296,280 (GRCm39) |
D518G |
probably damaging |
Het |
Optc |
T |
C |
1: 133,829,846 (GRCm39) |
Y188C |
probably damaging |
Het |
Prss45 |
C |
A |
9: 110,670,073 (GRCm39) |
A285E |
probably damaging |
Het |
Rcan2 |
C |
T |
17: 44,347,960 (GRCm39) |
T223I |
possibly damaging |
Het |
Snrnp70 |
A |
G |
7: 45,026,778 (GRCm39) |
|
probably null |
Het |
Sorbs1 |
T |
A |
19: 40,306,473 (GRCm39) |
T1064S |
probably damaging |
Het |
Sptb |
T |
C |
12: 76,669,943 (GRCm39) |
K462E |
probably damaging |
Het |
Sstr1 |
A |
G |
12: 58,259,536 (GRCm39) |
E53G |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,686,354 (GRCm39) |
|
probably null |
Het |
Tex35 |
G |
A |
1: 156,927,326 (GRCm39) |
|
probably benign |
Het |
Thnsl1 |
T |
C |
2: 21,217,260 (GRCm39) |
F338S |
possibly damaging |
Het |
Trpv1 |
C |
T |
11: 73,151,188 (GRCm39) |
A424V |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,693,554 (GRCm39) |
H2535L |
possibly damaging |
Het |
Usp46 |
T |
C |
5: 74,163,347 (GRCm39) |
E333G |
probably null |
Het |
Vmn1r27 |
T |
C |
6: 58,192,119 (GRCm39) |
Y245C |
probably benign |
Het |
Zfp488 |
T |
C |
14: 33,693,026 (GRCm39) |
M46V |
probably benign |
Het |
Zfp566 |
G |
T |
7: 29,777,936 (GRCm39) |
Q82K |
probably benign |
Het |
Znhit6 |
T |
C |
3: 145,283,915 (GRCm39) |
S62P |
probably damaging |
Het |
Znrf3 |
T |
C |
11: 5,239,039 (GRCm39) |
H108R |
probably damaging |
Het |
|
Other mutations in Dnmt3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-07-12 |