Incidental Mutation 'R4846:Tet3'
| ID |
372160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
042459-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R4846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 83353865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 932
(L932*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089622
AA Change: L797*
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: L797*
| 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 |
probably null
Transcript: ENSMUST00000186548
AA Change: L932*
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: L932*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
A |
14: 70,393,392 (GRCm39) |
H299L |
probably damaging |
Het |
| Abcb4 |
C |
T |
5: 8,985,180 (GRCm39) |
A687V |
probably benign |
Het |
| Abtb3 |
A |
G |
10: 85,465,130 (GRCm39) |
T657A |
probably damaging |
Het |
| Adam20 |
A |
G |
8: 41,248,048 (GRCm39) |
T53A |
probably benign |
Het |
| Afg1l |
G |
A |
10: 42,330,490 (GRCm39) |
T59I |
probably benign |
Het |
| AI837181 |
A |
G |
19: 5,476,329 (GRCm39) |
Q164R |
probably benign |
Het |
| Anapc15 |
T |
A |
7: 101,546,974 (GRCm39) |
I12N |
probably benign |
Het |
| Ankrd55 |
A |
C |
13: 112,499,988 (GRCm39) |
E278D |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,833,125 (GRCm39) |
T437A |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,931,895 (GRCm39) |
D168G |
probably damaging |
Het |
| Cd200 |
C |
T |
16: 45,212,664 (GRCm39) |
R261H |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,460,261 (GRCm39) |
S123L |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,382,571 (GRCm39) |
D156E |
probably damaging |
Het |
| Ctss |
C |
T |
3: 95,452,695 (GRCm39) |
Q159* |
probably null |
Het |
| Dennd2b |
C |
A |
7: 109,156,043 (GRCm39) |
E236* |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,157,327 (GRCm39) |
S93P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,593,743 (GRCm39) |
R542Q |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,781,880 (GRCm39) |
D491G |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,843,888 (GRCm39) |
M140K |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,425,986 (GRCm39) |
V14A |
probably benign |
Het |
| Gm17546 |
C |
A |
15: 95,727,843 (GRCm39) |
|
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hc |
A |
G |
2: 34,909,682 (GRCm39) |
V866A |
probably benign |
Het |
| Hoxb6 |
G |
A |
11: 96,190,348 (GRCm39) |
G116R |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,827,890 (GRCm39) |
Y43C |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,711,975 (GRCm39) |
T495A |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,233,798 (GRCm39) |
V755E |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,309,457 (GRCm39) |
D2814V |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,147,009 (GRCm39) |
N406K |
probably damaging |
Het |
| Met |
A |
T |
6: 17,491,928 (GRCm39) |
D230V |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,584 (GRCm39) |
V78D |
probably damaging |
Het |
| Mrpl20 |
A |
G |
4: 155,892,993 (GRCm39) |
T112A |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,040,362 (GRCm39) |
E566D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,005,923 (GRCm39) |
S235P |
probably damaging |
Het |
| Npas4 |
C |
A |
19: 5,036,805 (GRCm39) |
S453I |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Psg18 |
A |
T |
7: 18,084,711 (GRCm39) |
Y128* |
probably null |
Het |
| Ptges3l |
A |
T |
11: 101,310,010 (GRCm39) |
|
probably benign |
Het |
| Pus1 |
T |
C |
5: 110,927,796 (GRCm39) |
|
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,621,544 (GRCm39) |
S12C |
possibly damaging |
Het |
| Rps6-ps2 |
T |
G |
8: 89,533,206 (GRCm39) |
|
noncoding transcript |
Het |
| Slc5a4b |
A |
G |
10: 75,898,073 (GRCm39) |
L547P |
probably damaging |
Het |
| Socs3 |
A |
G |
11: 117,858,654 (GRCm39) |
S135P |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,890,047 (GRCm39) |
D591G |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,873,682 (GRCm39) |
V281M |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,661,977 (GRCm39) |
T818I |
possibly damaging |
Het |
| Syde1 |
A |
T |
10: 78,424,731 (GRCm39) |
V367D |
probably damaging |
Het |
| Trpm7 |
G |
A |
2: 126,655,105 (GRCm39) |
L1278F |
possibly damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,490 (GRCm39) |
T116S |
probably damaging |
Het |
| Wfdc6b |
A |
G |
2: 164,459,214 (GRCm39) |
Q92R |
possibly damaging |
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 |
|
R1761:Tet3
|
UTSW |
6 |
83,380,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- CAGTAAAGTTGAGCCAGGGC -3'
(R):5'- CAGCTACAGGTCTGTGGGATAG -3'
Sequencing Primer
(F):5'- AGCATCCCAGTGCCTGCTAC -3'
(R):5'- TAGTGAGGGGCATGTACCATG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation