Incidental Mutation 'R1761:Tet3'
ID |
192766 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet3
|
Ensembl Gene |
ENSMUSG00000034832 |
Gene Name |
tet methylcytosine dioxygenase 3 |
Synonyms |
B430006D22Rik, D230004J03Rik |
MMRRC Submission |
039793-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.640)
|
Stock # |
R1761 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83380641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 509
(E509G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
[ENSMUST00000190295]
|
AlphaFold |
Q8BG87 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000056191
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089622
AA Change: E374G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000087049 Gene: ENSMUSG00000034832 AA Change: E374G
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
low complexity region
|
66 |
77 |
N/A |
INTRINSIC |
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
internal_repeat_1
|
160 |
277 |
4.9e-5 |
PROSPERO |
low complexity region
|
279 |
297 |
N/A |
INTRINSIC |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
low complexity region
|
418 |
456 |
N/A |
INTRINSIC |
Tet_JBP
|
858 |
1570 |
N/A |
SMART |
coiled coil region
|
1579 |
1603 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184003
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186548
AA Change: E509G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139630 Gene: ENSMUSG00000034832 AA Change: E509G
Domain | Start | End | E-Value | Type |
Pfam:zf-CXXC
|
49 |
89 |
8e-6 |
PFAM |
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
low complexity region
|
250 |
261 |
N/A |
INTRINSIC |
internal_repeat_1
|
295 |
412 |
5.5e-5 |
PROSPERO |
low complexity region
|
414 |
432 |
N/A |
INTRINSIC |
low complexity region
|
494 |
506 |
N/A |
INTRINSIC |
low complexity region
|
553 |
591 |
N/A |
INTRINSIC |
Tet_JBP
|
993 |
1705 |
N/A |
SMART |
coiled coil region
|
1714 |
1738 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190295
|
SMART Domains |
Protein: ENSMUSP00000139679 Gene: ENSMUSG00000034832
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010] PHENOTYPE: Mice inheriting a null allele from a germ cell conditional null mother display impaired reprogramming of the paternal genome resulting in reduced embryo viability. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
Acan |
T |
A |
7: 78,743,833 (GRCm39) |
Y621* |
probably null |
Het |
Aig1 |
T |
C |
10: 13,566,328 (GRCm39) |
Y152C |
probably damaging |
Het |
Arhgap33 |
C |
T |
7: 30,232,488 (GRCm39) |
|
probably null |
Het |
Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
Cbx5 |
T |
C |
15: 103,121,607 (GRCm39) |
D10G |
possibly damaging |
Het |
Ccdc191 |
A |
G |
16: 43,763,873 (GRCm39) |
I445V |
probably benign |
Het |
Cdk4 |
T |
A |
10: 126,900,546 (GRCm39) |
|
probably benign |
Het |
Chil6 |
A |
G |
3: 106,301,654 (GRCm39) |
F149L |
probably damaging |
Het |
Cntn5 |
T |
C |
9: 10,172,059 (GRCm39) |
T42A |
probably benign |
Het |
Cpn2 |
A |
T |
16: 30,079,014 (GRCm39) |
I229N |
probably damaging |
Het |
Cpne8 |
A |
G |
15: 90,532,821 (GRCm39) |
V62A |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,837,431 (GRCm39) |
|
probably null |
Het |
Crnn |
A |
T |
3: 93,055,958 (GRCm39) |
H248L |
probably benign |
Het |
Csn1s1 |
A |
G |
5: 87,826,894 (GRCm39) |
S254G |
probably benign |
Het |
Cubn |
A |
G |
2: 13,494,128 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
Dpp3 |
A |
G |
19: 4,971,177 (GRCm39) |
L220P |
probably benign |
Het |
Fam110a |
T |
C |
2: 151,812,125 (GRCm39) |
E215G |
probably benign |
Het |
Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
Fat4 |
T |
C |
3: 38,941,638 (GRCm39) |
V177A |
possibly damaging |
Het |
Fzd8 |
C |
T |
18: 9,213,643 (GRCm39) |
R242C |
probably damaging |
Het |
Gimap5 |
A |
T |
6: 48,730,195 (GRCm39) |
Q255L |
probably damaging |
Het |
Gm4787 |
A |
G |
12: 81,423,950 (GRCm39) |
L736S |
probably benign |
Het |
Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
Gpr179 |
A |
C |
11: 97,225,932 (GRCm39) |
S2074R |
probably benign |
Het |
Hddc2 |
G |
T |
10: 31,202,135 (GRCm39) |
D161Y |
probably damaging |
Het |
Hlcs |
T |
C |
16: 94,068,866 (GRCm39) |
D265G |
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,241,984 (GRCm39) |
I573F |
possibly damaging |
Het |
Il1b |
T |
C |
2: 129,207,101 (GRCm39) |
K220E |
probably damaging |
Het |
Il5 |
T |
C |
11: 53,614,557 (GRCm39) |
I66T |
probably damaging |
Het |
Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
Klra1 |
A |
T |
6: 130,349,836 (GRCm39) |
Y201N |
probably damaging |
Het |
Lmf2 |
A |
G |
15: 89,236,916 (GRCm39) |
V442A |
possibly damaging |
Het |
Mcm2 |
T |
C |
6: 88,866,770 (GRCm39) |
I412M |
possibly damaging |
Het |
Mlkl |
T |
A |
8: 112,060,355 (GRCm39) |
L18F |
possibly damaging |
Het |
Mug2 |
C |
A |
6: 122,051,664 (GRCm39) |
H949N |
probably benign |
Het |
Nf1 |
T |
C |
11: 79,275,091 (GRCm39) |
F51L |
probably damaging |
Het |
Or52j3 |
T |
G |
7: 102,836,325 (GRCm39) |
C172W |
probably damaging |
Het |
Or7d10 |
A |
T |
9: 19,832,445 (GRCm39) |
*313C |
probably null |
Het |
Or8k18 |
T |
G |
2: 86,085,383 (GRCm39) |
Y218S |
probably damaging |
Het |
P3h2 |
T |
C |
16: 25,803,800 (GRCm39) |
E322G |
probably damaging |
Het |
Pramel21 |
T |
C |
4: 143,342,438 (GRCm39) |
Y182H |
probably benign |
Het |
Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
T |
C |
13: 67,104,476 (GRCm39) |
V116A |
possibly damaging |
Het |
Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
Scg3 |
T |
A |
9: 75,584,040 (GRCm39) |
I154F |
probably damaging |
Het |
Scgn |
A |
T |
13: 24,143,689 (GRCm39) |
F225Y |
probably damaging |
Het |
Sec61b |
T |
C |
4: 47,480,137 (GRCm39) |
C58R |
possibly damaging |
Het |
Slc25a46 |
G |
T |
18: 31,740,315 (GRCm39) |
Q96K |
possibly damaging |
Het |
Spmip6 |
G |
A |
4: 41,507,223 (GRCm39) |
P109L |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,659,382 (GRCm39) |
F1173L |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,134,017 (GRCm39) |
C893S |
probably damaging |
Het |
Timm10b |
C |
T |
7: 105,332,915 (GRCm39) |
R897* |
probably null |
Het |
Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
Tom1 |
T |
C |
8: 75,778,179 (GRCm39) |
V87A |
probably benign |
Het |
Tti1 |
T |
C |
2: 157,849,617 (GRCm39) |
I541V |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
Vgll3 |
A |
T |
16: 65,636,614 (GRCm39) |
D310V |
probably damaging |
Het |
Vmac |
A |
G |
17: 57,022,788 (GRCm39) |
L74P |
probably damaging |
Het |
Zbtb1 |
A |
T |
12: 76,432,595 (GRCm39) |
K194* |
probably null |
Het |
Zfp429 |
A |
G |
13: 67,544,195 (GRCm39) |
M76T |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,319,460 (GRCm39) |
C230S |
possibly damaging |
Het |
Zfp980 |
A |
G |
4: 145,428,612 (GRCm39) |
Y447C |
probably damaging |
Het |
Zfp985 |
A |
G |
4: 147,668,502 (GRCm39) |
T457A |
probably benign |
Het |
|
Other mutations in Tet3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00929:Tet3
|
APN |
6 |
83,345,637 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01396:Tet3
|
APN |
6 |
83,346,620 (GRCm39) |
nonsense |
probably null |
|
IGL02344:Tet3
|
APN |
6 |
83,380,815 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02987:Tet3
|
APN |
6 |
83,345,074 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03126:Tet3
|
APN |
6 |
83,353,769 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03155:Tet3
|
APN |
6 |
83,345,365 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03286:Tet3
|
APN |
6 |
83,352,760 (GRCm39) |
missense |
probably damaging |
1.00 |
Reedy
|
UTSW |
6 |
83,345,066 (GRCm39) |
nonsense |
probably null |
|
P0033:Tet3
|
UTSW |
6 |
83,345,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Tet3
|
UTSW |
6 |
83,345,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R0295:Tet3
|
UTSW |
6 |
83,346,121 (GRCm39) |
missense |
probably benign |
0.14 |
R0504:Tet3
|
UTSW |
6 |
83,350,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R0524:Tet3
|
UTSW |
6 |
83,356,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R1061:Tet3
|
UTSW |
6 |
83,350,305 (GRCm39) |
missense |
probably damaging |
0.99 |
R1160:Tet3
|
UTSW |
6 |
83,381,434 (GRCm39) |
missense |
probably benign |
0.00 |
R1550:Tet3
|
UTSW |
6 |
83,363,010 (GRCm39) |
missense |
probably damaging |
0.97 |
R1640:Tet3
|
UTSW |
6 |
83,346,297 (GRCm39) |
missense |
probably benign |
0.44 |
R1658:Tet3
|
UTSW |
6 |
83,346,039 (GRCm39) |
missense |
probably benign |
0.44 |
R1746:Tet3
|
UTSW |
6 |
83,345,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R1832:Tet3
|
UTSW |
6 |
83,380,627 (GRCm39) |
missense |
probably benign |
|
R1835:Tet3
|
UTSW |
6 |
83,381,145 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1932:Tet3
|
UTSW |
6 |
83,381,361 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2014:Tet3
|
UTSW |
6 |
83,363,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R2230:Tet3
|
UTSW |
6 |
83,346,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R2232:Tet3
|
UTSW |
6 |
83,346,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R2922:Tet3
|
UTSW |
6 |
83,345,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R3429:Tet3
|
UTSW |
6 |
83,380,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R3430:Tet3
|
UTSW |
6 |
83,380,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R4291:Tet3
|
UTSW |
6 |
83,350,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R4349:Tet3
|
UTSW |
6 |
83,380,257 (GRCm39) |
missense |
probably benign |
|
R4809:Tet3
|
UTSW |
6 |
83,379,928 (GRCm39) |
missense |
probably benign |
|
R4846:Tet3
|
UTSW |
6 |
83,353,865 (GRCm39) |
nonsense |
probably null |
|
R5039:Tet3
|
UTSW |
6 |
83,352,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R5233:Tet3
|
UTSW |
6 |
83,363,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R5363:Tet3
|
UTSW |
6 |
83,353,746 (GRCm39) |
critical splice donor site |
probably null |
|
R5880:Tet3
|
UTSW |
6 |
83,347,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R6270:Tet3
|
UTSW |
6 |
83,352,773 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6277:Tet3
|
UTSW |
6 |
83,345,066 (GRCm39) |
nonsense |
probably null |
|
R6564:Tet3
|
UTSW |
6 |
83,363,052 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6622:Tet3
|
UTSW |
6 |
83,380,426 (GRCm39) |
missense |
probably benign |
0.00 |
R7089:Tet3
|
UTSW |
6 |
83,432,006 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7244:Tet3
|
UTSW |
6 |
83,347,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R7251:Tet3
|
UTSW |
6 |
83,381,038 (GRCm39) |
missense |
probably benign |
|
R7361:Tet3
|
UTSW |
6 |
83,345,076 (GRCm39) |
missense |
probably benign |
0.15 |
R7436:Tet3
|
UTSW |
6 |
83,345,211 (GRCm39) |
small insertion |
probably benign |
|
R7438:Tet3
|
UTSW |
6 |
83,345,211 (GRCm39) |
small insertion |
probably benign |
|
R7544:Tet3
|
UTSW |
6 |
83,381,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R7552:Tet3
|
UTSW |
6 |
83,345,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R7942:Tet3
|
UTSW |
6 |
83,353,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R8010:Tet3
|
UTSW |
6 |
83,380,228 (GRCm39) |
missense |
unknown |
|
R8063:Tet3
|
UTSW |
6 |
83,379,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R8307:Tet3
|
UTSW |
6 |
83,356,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Tet3
|
UTSW |
6 |
83,345,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R9020:Tet3
|
UTSW |
6 |
83,381,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R9377:Tet3
|
UTSW |
6 |
83,380,596 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9476:Tet3
|
UTSW |
6 |
83,381,808 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9476:Tet3
|
UTSW |
6 |
83,380,935 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9510:Tet3
|
UTSW |
6 |
83,381,808 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9510:Tet3
|
UTSW |
6 |
83,380,935 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9582:Tet3
|
UTSW |
6 |
83,381,226 (GRCm39) |
missense |
probably damaging |
0.99 |
R9671:Tet3
|
UTSW |
6 |
83,381,136 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9801:Tet3
|
UTSW |
6 |
83,346,436 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0004:Tet3
|
UTSW |
6 |
83,380,405 (GRCm39) |
missense |
probably benign |
0.17 |
Z1176:Tet3
|
UTSW |
6 |
83,436,003 (GRCm39) |
missense |
unknown |
|
Z1176:Tet3
|
UTSW |
6 |
83,381,332 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tet3
|
UTSW |
6 |
83,347,680 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tet3
|
UTSW |
6 |
83,381,276 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTGATCTGAATGGGCTTTCGGAC -3'
(R):5'- TGGCAGAACTGGAGCAGCTATTG -3'
Sequencing Primer
(F):5'- GGACACTGGTCTTGATCCC -3'
(R):5'- AGCAGCTATTGGGCAGC -3'
|
Posted On |
2014-05-23 |