Incidental Mutation 'R8437:Dnmt3l'
ID |
654056 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnmt3l
|
Ensembl Gene |
ENSMUSG00000000730 |
Gene Name |
DNA methyltransferase 3-like |
Synonyms |
D6Ertd14e, ecat7 |
MMRRC Submission |
067901-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8437 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
77878121-77899456 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77888602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 168
(I168T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000746
(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: I168T
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000000746 Gene: ENSMUSG00000000730 AA Change: I168T
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: I168T
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121562 Gene: ENSMUSG00000000730 AA Change: I168T
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 |
possibly damaging
Transcript: ENSMUST00000151242
AA Change: I168T
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116970 Gene: ENSMUSG00000000730 AA Change: I168T
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd2 |
T |
C |
7: 78,998,178 (GRCm39) |
Y237H |
probably damaging |
Het |
Adprh |
T |
C |
16: 38,266,449 (GRCm39) |
E231G |
probably benign |
Het |
Anks6 |
T |
C |
4: 47,030,705 (GRCm39) |
S631G |
probably benign |
Het |
Bpifa5 |
T |
A |
2: 154,007,526 (GRCm39) |
L156H |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
C8b |
T |
C |
4: 104,644,040 (GRCm39) |
Y236H |
probably damaging |
Het |
Celf2 |
C |
T |
2: 6,551,956 (GRCm39) |
G508S |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,710,822 (GRCm39) |
T794A |
probably benign |
Het |
Col27a1 |
T |
A |
4: 63,237,701 (GRCm39) |
|
probably benign |
Het |
Cyp2j12 |
C |
T |
4: 95,987,899 (GRCm39) |
C497Y |
probably damaging |
Het |
Dtna |
C |
T |
18: 23,723,398 (GRCm39) |
Q201* |
probably null |
Het |
Fetub |
T |
C |
16: 22,752,985 (GRCm39) |
S146P |
possibly damaging |
Het |
Gak |
T |
G |
5: 108,757,272 (GRCm39) |
E242D |
probably benign |
Het |
Gfpt2 |
T |
A |
11: 49,695,694 (GRCm39) |
|
probably benign |
Het |
Ginm1 |
C |
T |
10: 7,646,130 (GRCm39) |
C290Y |
probably benign |
Het |
Hepacam |
T |
C |
9: 37,296,006 (GRCm39) |
S386P |
probably damaging |
Het |
Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
Hnrnpa3 |
T |
G |
2: 75,493,019 (GRCm39) |
S220A |
unknown |
Het |
Hydin |
A |
G |
8: 111,189,367 (GRCm39) |
E1257G |
probably damaging |
Het |
Ier3ip1 |
C |
T |
18: 77,017,874 (GRCm39) |
A18V |
probably damaging |
Het |
Ift140 |
T |
A |
17: 25,313,651 (GRCm39) |
C1361S |
probably damaging |
Het |
Il16 |
T |
C |
7: 83,301,351 (GRCm39) |
Q955R |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,326,277 (GRCm39) |
M1349R |
probably damaging |
Het |
Kcnk4 |
C |
T |
19: 6,903,602 (GRCm39) |
V316I |
probably benign |
Het |
Marchf6 |
A |
G |
15: 31,482,695 (GRCm39) |
I501T |
possibly damaging |
Het |
Msl2 |
T |
A |
9: 100,978,167 (GRCm39) |
S180R |
probably benign |
Het |
Muc16 |
C |
T |
9: 18,569,220 (GRCm39) |
V1100I |
unknown |
Het |
Nbas |
T |
C |
12: 13,616,251 (GRCm39) |
V2263A |
possibly damaging |
Het |
Or6b2 |
C |
T |
1: 92,408,187 (GRCm39) |
S52N |
probably benign |
Het |
Or7g33 |
C |
T |
9: 19,448,833 (GRCm39) |
R131H |
probably benign |
Het |
Pdilt |
T |
G |
7: 119,114,109 (GRCm39) |
I130L |
possibly damaging |
Het |
Phldb3 |
A |
G |
7: 24,328,375 (GRCm39) |
T640A |
probably damaging |
Het |
Pole2 |
G |
C |
12: 69,250,961 (GRCm39) |
Y467* |
probably null |
Het |
Pxdn |
C |
T |
12: 30,052,043 (GRCm39) |
T740M |
probably damaging |
Het |
Rabac1 |
T |
C |
7: 24,671,672 (GRCm39) |
I83V |
probably damaging |
Het |
Rrp7a |
T |
C |
15: 83,001,773 (GRCm39) |
Q245R |
probably damaging |
Het |
Sae1 |
A |
G |
7: 16,104,279 (GRCm39) |
V110A |
probably damaging |
Het |
Sema3c |
G |
T |
5: 17,867,936 (GRCm39) |
V116F |
probably damaging |
Het |
Serpina3i |
A |
G |
12: 104,231,963 (GRCm39) |
Y200C |
probably damaging |
Het |
Slc25a45 |
C |
T |
19: 5,930,135 (GRCm39) |
T35M |
probably benign |
Het |
Speer4b |
C |
T |
5: 27,703,818 (GRCm39) |
R107Q |
probably benign |
Het |
Sycp2 |
T |
C |
2: 178,006,651 (GRCm39) |
T843A |
probably damaging |
Het |
Tecta |
T |
A |
9: 42,243,856 (GRCm39) |
I2004F |
probably damaging |
Het |
Tma16 |
T |
C |
8: 66,929,448 (GRCm39) |
D182G |
possibly damaging |
Het |
Topaz1 |
T |
A |
9: 122,610,427 (GRCm39) |
Y1167* |
probably null |
Het |
Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
Usp25 |
A |
G |
16: 76,830,800 (GRCm39) |
T19A |
probably damaging |
Het |
Vpreb1b |
G |
A |
16: 17,798,753 (GRCm39) |
G80S |
probably damaging |
Het |
Wdfy4 |
A |
G |
14: 32,798,332 (GRCm39) |
C2025R |
|
Het |
Zyg11a |
T |
A |
4: 108,075,103 (GRCm39) |
H6L |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTTCCAACCTGCAGCCAGC -3'
(R):5'- AGGGACTTTAAGGCAAAGCC -3'
Sequencing Primer
(F):5'- TCAGCCAGCACTAAGAGCAAAG -3'
(R):5'- TGCGCACATGGGATGCTAG -3'
|
Posted On |
2020-10-20 |