Incidental Mutation 'IGL02322:Dnmt3l'
ID |
288288 |
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 # |
IGL02322
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
77878121-77899456 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 77888572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 158
(I158N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116970
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000746]
[ENSMUST00000123940]
[ENSMUST00000131825]
[ENSMUST00000138785]
[ENSMUST00000139539]
[ENSMUST00000151242]
|
AlphaFold |
Q9CWR8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000746
AA Change: I158N
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000000746 Gene: ENSMUSG00000000730 AA Change: I158N
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 |
possibly damaging
Transcript: ENSMUST00000138785
AA Change: I158N
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121562 Gene: ENSMUSG00000000730 AA Change: I158N
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 |
possibly damaging
Transcript: ENSMUST00000151242
AA Change: I158N
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116970 Gene: ENSMUSG00000000730 AA Change: I158N
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acd |
G |
A |
8: 106,425,268 (GRCm39) |
A355V |
probably benign |
Het |
Adam9 |
A |
G |
8: 25,445,990 (GRCm39) |
V801A |
probably damaging |
Het |
Ankrd36 |
T |
A |
11: 5,564,619 (GRCm39) |
V479D |
possibly damaging |
Het |
Arid5a |
C |
T |
1: 36,358,497 (GRCm39) |
P423L |
probably benign |
Het |
Atp13a4 |
T |
C |
16: 29,258,920 (GRCm39) |
I650V |
probably benign |
Het |
B4gat1 |
C |
A |
19: 5,089,155 (GRCm39) |
P51T |
possibly damaging |
Het |
Caskin2 |
G |
A |
11: 115,695,303 (GRCm39) |
T310M |
probably damaging |
Het |
Ccdc121rt1 |
A |
G |
1: 181,337,999 (GRCm39) |
S318P |
possibly damaging |
Het |
Ccdc159 |
G |
T |
9: 21,840,669 (GRCm39) |
V79L |
possibly damaging |
Het |
Ccser2 |
A |
T |
14: 36,631,086 (GRCm39) |
V18E |
probably damaging |
Het |
Cct8l1 |
T |
C |
5: 25,722,581 (GRCm39) |
V432A |
probably benign |
Het |
Cdh11 |
A |
T |
8: 103,374,151 (GRCm39) |
F529Y |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,832,248 (GRCm39) |
E1370G |
probably damaging |
Het |
Col22a1 |
C |
A |
15: 71,694,502 (GRCm39) |
G717C |
unknown |
Het |
Csmd2 |
T |
C |
4: 128,357,520 (GRCm39) |
|
probably benign |
Het |
Ctrb1 |
A |
C |
8: 112,415,951 (GRCm39) |
|
probably null |
Het |
Cyp2b19 |
T |
C |
7: 26,461,803 (GRCm39) |
S208P |
possibly damaging |
Het |
Evi5l |
T |
C |
8: 4,237,236 (GRCm39) |
|
probably benign |
Het |
Fkbpl |
A |
G |
17: 34,864,298 (GRCm39) |
E22G |
probably benign |
Het |
Flnb |
T |
A |
14: 7,894,676 (GRCm38) |
F825I |
probably damaging |
Het |
Gjb6 |
A |
T |
14: 57,361,732 (GRCm39) |
N176K |
probably damaging |
Het |
Gpc2 |
G |
T |
5: 138,274,499 (GRCm39) |
|
probably null |
Het |
H1f7 |
T |
C |
15: 98,154,757 (GRCm39) |
T131A |
possibly damaging |
Het |
Il20 |
C |
T |
1: 130,837,313 (GRCm39) |
C104Y |
probably damaging |
Het |
Mgat5 |
A |
G |
1: 127,310,722 (GRCm39) |
N212S |
probably benign |
Het |
Olfm5 |
C |
T |
7: 103,803,608 (GRCm39) |
G210D |
probably damaging |
Het |
Olig2 |
T |
C |
16: 91,023,546 (GRCm39) |
S87P |
probably benign |
Het |
Or2y15 |
A |
G |
11: 49,350,784 (GRCm39) |
S93G |
probably benign |
Het |
Or4c121 |
T |
A |
2: 89,023,806 (GRCm39) |
T191S |
probably damaging |
Het |
Osbpl7 |
G |
T |
11: 96,946,950 (GRCm39) |
A418S |
probably benign |
Het |
Otog |
G |
T |
7: 45,950,881 (GRCm39) |
R2551L |
probably benign |
Het |
Oxt |
A |
T |
2: 130,418,200 (GRCm39) |
N24I |
probably damaging |
Het |
Pibf1 |
A |
G |
14: 99,448,419 (GRCm39) |
Y626C |
probably damaging |
Het |
Plekhh2 |
A |
T |
17: 84,896,894 (GRCm39) |
K934* |
probably null |
Het |
Pramel14 |
G |
A |
4: 143,718,591 (GRCm39) |
|
probably benign |
Het |
Prdm9 |
A |
T |
17: 15,783,110 (GRCm39) |
N57K |
probably damaging |
Het |
Rapsn |
A |
G |
2: 90,872,251 (GRCm39) |
D195G |
possibly damaging |
Het |
Rimbp3 |
T |
G |
16: 17,029,479 (GRCm39) |
F968V |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,387,499 (GRCm39) |
N1047S |
possibly damaging |
Het |
Slc35g1 |
C |
T |
19: 38,389,013 (GRCm39) |
R107* |
probably null |
Het |
Ssh2 |
A |
C |
11: 77,307,239 (GRCm39) |
|
probably null |
Het |
Tiparp |
C |
A |
3: 65,439,441 (GRCm39) |
C70* |
probably null |
Het |
Vmn2r110 |
A |
G |
17: 20,794,197 (GRCm39) |
I824T |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,570,687 (GRCm39) |
S402P |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,845,183 (GRCm39) |
E2089G |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,339,082 (GRCm39) |
H441L |
probably benign |
Het |
Zdhhc3 |
C |
T |
9: 122,929,542 (GRCm39) |
G31D |
probably benign |
Het |
Zfp330 |
A |
G |
8: 83,497,450 (GRCm39) |
L64S |
probably 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 |
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 |
2015-04-16 |