Incidental Mutation 'R6314:Dnmt3l'
ID |
509948 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnmt3l
|
Ensembl Gene |
ENSMUSG00000000730 |
Gene Name |
DNA methyltransferase 3-like |
Synonyms |
D6Ertd14e, ecat7 |
MMRRC Submission |
044471-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6314 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
77878121-77899456 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77895521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 58
(Y58F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000746]
[ENSMUST00000123940]
[ENSMUST00000131825]
[ENSMUST00000138785]
[ENSMUST00000139539]
[ENSMUST00000151242]
|
AlphaFold |
Q9CWR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000746
AA Change: Y353F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000000746 Gene: ENSMUSG00000000730 AA Change: Y353F
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
AA Change: Y58F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000123015 Gene: ENSMUSG00000000730 AA Change: Y58F
Domain | Start | End | E-Value | Type |
PDB:2QRV|G
|
1 |
120 |
1e-38 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131825
AA Change: Y58F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000119571 Gene: ENSMUSG00000000730 AA Change: Y58F
Domain | Start | End | E-Value | Type |
PDB:2QRV|G
|
1 |
120 |
1e-38 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138785
AA Change: Y353F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121562 Gene: ENSMUSG00000000730 AA Change: Y353F
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
AA Change: Y58F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117827 Gene: ENSMUSG00000000730 AA Change: Y58F
Domain | Start | End | E-Value | Type |
PDB:2QRV|G
|
1 |
120 |
1e-38 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144446
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151242
AA Change: Y353F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116970 Gene: ENSMUSG00000000730 AA Change: Y353F
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
Validation Efficiency |
98% (54/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449I24Rik |
A |
C |
5: 146,441,702 (GRCm39) |
E283A |
possibly damaging |
Het |
Aadacl2 |
A |
T |
3: 59,924,824 (GRCm39) |
R130S |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,177,365 (GRCm39) |
C581* |
probably null |
Het |
Adss2 |
T |
A |
1: 177,595,334 (GRCm39) |
Y402F |
probably damaging |
Het |
Agfg1 |
A |
T |
1: 82,836,155 (GRCm39) |
Q13H |
probably damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Armc8 |
A |
G |
9: 99,417,937 (GRCm39) |
S74P |
probably benign |
Het |
Atn1 |
A |
T |
6: 124,724,013 (GRCm39) |
|
probably benign |
Het |
Ddx5 |
T |
C |
11: 106,679,347 (GRCm39) |
|
probably benign |
Het |
Depdc1a |
T |
A |
3: 159,204,051 (GRCm39) |
H33Q |
probably damaging |
Het |
Efemp1 |
C |
T |
11: 28,864,603 (GRCm39) |
T219I |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,729,366 (GRCm39) |
N436D |
probably damaging |
Het |
Epb41l4a |
A |
G |
18: 34,007,208 (GRCm39) |
V261A |
probably damaging |
Het |
Erap1 |
A |
T |
13: 74,822,894 (GRCm39) |
K802N |
probably damaging |
Het |
Fads2b |
T |
C |
2: 85,332,520 (GRCm39) |
N168S |
probably benign |
Het |
Fcrl6 |
T |
A |
1: 172,426,186 (GRCm39) |
|
probably null |
Het |
Fv1 |
A |
T |
4: 147,954,156 (GRCm39) |
|
probably null |
Het |
Gdpd4 |
T |
A |
7: 97,623,160 (GRCm39) |
M257K |
probably damaging |
Het |
Gorab |
T |
C |
1: 163,224,658 (GRCm39) |
S48G |
probably damaging |
Het |
Gxylt2 |
A |
T |
6: 100,775,164 (GRCm39) |
H361L |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,128,223 (GRCm39) |
Y300H |
possibly damaging |
Het |
Hk3 |
T |
C |
13: 55,161,393 (GRCm39) |
R156G |
probably benign |
Het |
Hook3 |
T |
A |
8: 26,578,136 (GRCm39) |
M118L |
probably benign |
Het |
Lmnb2 |
G |
A |
10: 80,745,804 (GRCm39) |
R92C |
probably damaging |
Het |
Lsr |
A |
G |
7: 30,658,024 (GRCm39) |
L380P |
probably damaging |
Het |
Mettl16 |
A |
T |
11: 74,686,832 (GRCm39) |
R204* |
probably null |
Het |
Or5h18 |
A |
T |
16: 58,847,820 (GRCm39) |
I150K |
probably benign |
Het |
Or7a37 |
A |
G |
10: 78,806,179 (GRCm39) |
H232R |
probably benign |
Het |
Or7e173 |
C |
A |
9: 19,938,958 (GRCm39) |
S92I |
probably damaging |
Het |
Orc3 |
C |
A |
4: 34,579,797 (GRCm39) |
G494C |
possibly damaging |
Het |
Pcare |
T |
G |
17: 72,059,452 (GRCm39) |
Q75P |
probably benign |
Het |
Pip5k1a |
G |
T |
3: 94,975,432 (GRCm39) |
T346K |
probably damaging |
Het |
Pitx1 |
A |
T |
13: 55,974,166 (GRCm39) |
S222T |
possibly damaging |
Het |
Pm20d1 |
T |
C |
1: 131,743,754 (GRCm39) |
V473A |
possibly damaging |
Het |
Pnpla6 |
C |
T |
8: 3,571,572 (GRCm39) |
L168F |
probably benign |
Het |
Pramel13 |
T |
C |
4: 144,121,157 (GRCm39) |
D289G |
probably damaging |
Het |
Reln |
C |
A |
5: 22,357,482 (GRCm39) |
E195* |
probably null |
Het |
S100a7l2 |
A |
T |
3: 90,995,683 (GRCm39) |
V73E |
possibly damaging |
Het |
Sec24b |
A |
T |
3: 129,800,894 (GRCm39) |
|
probably null |
Het |
Selenbp1 |
A |
G |
3: 94,844,576 (GRCm39) |
N78D |
probably damaging |
Het |
Serpina1d |
T |
A |
12: 103,730,959 (GRCm39) |
T340S |
probably benign |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Snap29 |
T |
C |
16: 17,237,183 (GRCm39) |
M98T |
probably benign |
Het |
Son |
G |
T |
16: 91,457,298 (GRCm39) |
|
probably benign |
Het |
Spef1l |
A |
C |
7: 139,556,402 (GRCm39) |
L195R |
possibly damaging |
Het |
Tgfbi |
A |
T |
13: 56,773,976 (GRCm39) |
T252S |
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,554,996 (GRCm39) |
N296S |
possibly damaging |
Het |
Tmem225 |
C |
G |
9: 40,062,016 (GRCm39) |
T210S |
probably benign |
Het |
Tmem245 |
A |
T |
4: 56,888,592 (GRCm39) |
V778D |
possibly damaging |
Het |
Tor4a |
T |
C |
2: 25,084,794 (GRCm39) |
R370G |
possibly damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,698,625 (GRCm39) |
H442R |
probably benign |
Het |
Vmn1r20 |
A |
T |
6: 57,409,042 (GRCm39) |
M123L |
probably benign |
Het |
Zfp622 |
T |
C |
15: 25,987,067 (GRCm39) |
V273A |
probably benign |
Het |
Zhx1 |
C |
T |
15: 57,917,398 (GRCm39) |
V283I |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTTGATCAAAGTGGTCTCCAG -3'
(R):5'- TGACCAGTTCAGAGGCATGATC -3'
Sequencing Primer
(F):5'- GATCAAAGTGGTCTCCAGATTTTAC -3'
(R):5'- GAGTGATCATCATAATGAGTGTCCC -3'
|
Posted On |
2018-04-02 |