Incidental Mutation 'R9473:Dnmt3l'
ID |
715580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnmt3l
|
Ensembl Gene |
ENSMUSG00000000730 |
Gene Name |
DNA methyltransferase 3-like |
Synonyms |
D6Ertd14e, ecat7 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9473 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
77878121-77899456 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 77886022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 36
(Q36*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000746]
[ENSMUST00000138785]
[ENSMUST00000151242]
|
AlphaFold |
Q9CWR8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000000746
AA Change: Q36*
|
SMART Domains |
Protein: ENSMUSP00000000746 Gene: ENSMUSG00000000730 AA Change: Q36*
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 null
Transcript: ENSMUST00000138785
AA Change: Q36*
|
SMART Domains |
Protein: ENSMUSP00000121562 Gene: ENSMUSG00000000730 AA Change: Q36*
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 null
Transcript: ENSMUST00000151242
AA Change: Q36*
|
SMART Domains |
Protein: ENSMUSP00000116970 Gene: ENSMUSG00000000730 AA Change: Q36*
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: 99.9%
- 10x: 99.4%
- 20x: 97.6%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
C |
T |
5: 144,980,912 (GRCm39) |
P107L |
probably benign |
Het |
Abcc10 |
T |
C |
17: 46,617,609 (GRCm39) |
N1142S |
probably benign |
Het |
Accsl |
T |
C |
2: 93,686,092 (GRCm39) |
H575R |
probably benign |
Het |
Adgra2 |
T |
A |
8: 27,610,943 (GRCm39) |
L964Q |
probably damaging |
Het |
Akap5 |
T |
C |
12: 76,376,632 (GRCm39) |
L688P |
probably damaging |
Het |
Anapc10 |
A |
G |
8: 80,501,673 (GRCm39) |
N147S |
probably damaging |
Het |
Atm |
C |
T |
9: 53,410,272 (GRCm39) |
E1059K |
probably benign |
Het |
Bltp2 |
G |
A |
11: 78,174,983 (GRCm39) |
R1706H |
probably damaging |
Het |
Bmf |
A |
C |
2: 118,363,104 (GRCm39) |
F251V |
probably benign |
Het |
Capn3 |
G |
T |
2: 120,326,535 (GRCm39) |
E576* |
probably null |
Het |
Capns2 |
T |
C |
8: 93,628,854 (GRCm39) |
*248R |
probably null |
Het |
Ceacam13 |
G |
T |
7: 17,747,281 (GRCm39) |
V245L |
probably benign |
Het |
Clcn3 |
T |
C |
8: 61,407,651 (GRCm39) |
D2G |
probably benign |
Het |
Dcstamp |
G |
A |
15: 39,617,972 (GRCm39) |
C127Y |
probably damaging |
Het |
Dpys |
A |
G |
15: 39,687,583 (GRCm39) |
I405T |
possibly damaging |
Het |
Duoxa1 |
A |
G |
2: 122,134,326 (GRCm39) |
I309T |
probably benign |
Het |
Eif2b1 |
G |
A |
5: 124,712,677 (GRCm39) |
Q156* |
probably null |
Het |
Eif3l |
T |
A |
15: 78,970,704 (GRCm39) |
M326K |
probably damaging |
Het |
Fbxl13 |
T |
C |
5: 21,790,243 (GRCm39) |
N267D |
possibly damaging |
Het |
Fip1l1 |
C |
T |
5: 74,745,719 (GRCm39) |
T372I |
probably damaging |
Het |
Galt |
A |
G |
4: 41,757,575 (GRCm39) |
N249S |
probably benign |
Het |
Gm17324 |
G |
T |
9: 78,355,839 (GRCm39) |
R47S |
unknown |
Het |
Gm45871 |
T |
G |
18: 90,609,093 (GRCm39) |
D110E |
probably benign |
Het |
Gtf2ird1 |
T |
A |
5: 134,433,534 (GRCm39) |
T298S |
probably benign |
Het |
Ighv7-4 |
T |
C |
12: 114,186,722 (GRCm39) |
I17V |
probably benign |
Het |
Krt7 |
C |
T |
15: 101,318,409 (GRCm39) |
R299W |
probably damaging |
Het |
Macc1 |
A |
G |
12: 119,297,990 (GRCm39) |
|
probably benign |
Het |
Mturn |
G |
A |
6: 54,666,009 (GRCm39) |
E61K |
probably benign |
Het |
Nol11 |
T |
C |
11: 107,075,581 (GRCm39) |
D149G |
probably null |
Het |
Nr4a3 |
A |
T |
4: 48,052,143 (GRCm39) |
N299I |
probably damaging |
Het |
Pip5k1b |
A |
T |
19: 24,335,590 (GRCm39) |
I351N |
probably damaging |
Het |
Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
Pramel11 |
T |
G |
4: 143,620,815 (GRCm39) |
T468P |
probably benign |
Het |
Rdh19 |
A |
G |
10: 127,696,177 (GRCm39) |
T310A |
probably benign |
Het |
Rflnb |
T |
A |
11: 75,913,064 (GRCm39) |
Y108F |
probably damaging |
Het |
Rfx1 |
A |
T |
8: 84,819,903 (GRCm39) |
I713F |
probably damaging |
Het |
Saxo5 |
G |
A |
8: 3,529,232 (GRCm39) |
C239Y |
probably benign |
Het |
Scgn |
T |
C |
13: 24,143,731 (GRCm39) |
|
probably null |
Het |
Serpina1d |
T |
C |
12: 103,729,939 (GRCm39) |
*414W |
probably null |
Het |
Slc18a3 |
T |
C |
14: 32,185,913 (GRCm39) |
I157V |
probably benign |
Het |
Steap1 |
T |
C |
5: 5,790,378 (GRCm39) |
Y190C |
probably damaging |
Het |
Svep1 |
A |
G |
4: 58,064,243 (GRCm39) |
S3247P |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,198,258 (GRCm39) |
I3778V |
probably benign |
Het |
Tas2r114 |
T |
C |
6: 131,666,104 (GRCm39) |
D308G |
probably benign |
Het |
Tpm2 |
A |
T |
4: 43,514,813 (GRCm39) |
L274* |
probably null |
Het |
Ttc39b |
A |
G |
4: 83,181,977 (GRCm39) |
F81L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,547,338 (GRCm39) |
V32236A |
probably damaging |
Het |
Ubr5 |
A |
G |
15: 38,002,617 (GRCm39) |
V1472A |
|
Het |
Ugt2b1 |
A |
T |
5: 87,065,539 (GRCm39) |
V500D |
possibly damaging |
Het |
Vpreb1b |
G |
A |
16: 17,798,565 (GRCm39) |
C17Y |
probably benign |
Het |
Wscd1 |
A |
G |
11: 71,679,644 (GRCm39) |
N506D |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTAGGGTTCTGACGACCCTG -3'
(R):5'- AGGGGCTGCAATATTAGCTTTG -3'
Sequencing Primer
(F):5'- TGACGACCCTGCTGTCACAC -3'
(R):5'- CAGTCCCAGACAACATGTTTTTGGG -3'
|
Posted On |
2022-06-15 |