Incidental Mutation 'R6622:Tet3'
| ID |
524517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R6622 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83380426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 581
(P581S)
|
| 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 benign
Transcript: ENSMUST00000089622
AA Change: P446S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: P446S
| 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 benign
Transcript: ENSMUST00000186548
AA Change: P581S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: P581S
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
C |
5: 81,942,606 (GRCm39) |
D1412A |
probably benign |
Het |
| Arhgap26 |
A |
G |
18: 39,032,916 (GRCm39) |
|
probably benign |
Het |
| Card14 |
A |
G |
11: 119,224,814 (GRCm39) |
M614V |
probably benign |
Het |
| Cbx2 |
A |
G |
11: 118,919,961 (GRCm39) |
T509A |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,788,815 (GRCm39) |
D1136G |
probably benign |
Het |
| Cep170 |
T |
A |
1: 176,583,898 (GRCm39) |
Q827L |
probably damaging |
Het |
| Clock |
A |
T |
5: 76,389,801 (GRCm39) |
I349K |
probably damaging |
Het |
| Cnppd1 |
A |
T |
1: 75,113,539 (GRCm39) |
V243E |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,723,960 (GRCm39) |
F93L |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,273,706 (GRCm39) |
A2563D |
probably damaging |
Het |
| Cxxc5 |
T |
G |
18: 35,992,372 (GRCm39) |
C258G |
possibly damaging |
Het |
| Cycs |
G |
A |
6: 50,543,443 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,790,990 (GRCm39) |
H280Q |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,133,619 (GRCm39) |
R79H |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,153,114 (GRCm39) |
S197G |
probably benign |
Het |
| Dscam |
C |
T |
16: 96,446,273 (GRCm39) |
G1456E |
probably benign |
Het |
| Dst |
G |
A |
1: 34,218,332 (GRCm39) |
V1591I |
probably benign |
Het |
| Epha5 |
A |
G |
5: 84,385,387 (GRCm39) |
S315P |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,873 (GRCm39) |
T1012A |
probably benign |
Het |
| Fxr2 |
G |
A |
11: 69,532,416 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
T |
A |
9: 58,765,010 (GRCm39) |
V534E |
unknown |
Het |
| Hrh4 |
A |
G |
18: 13,155,454 (GRCm39) |
Y331C |
probably damaging |
Het |
| Insyn1 |
A |
G |
9: 58,406,533 (GRCm39) |
I148V |
probably benign |
Het |
| Kif16b |
T |
A |
2: 142,554,362 (GRCm39) |
H812L |
probably benign |
Het |
| Krt14 |
T |
A |
11: 100,094,786 (GRCm39) |
R451S |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,811,108 (GRCm39) |
T80A |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,307,305 (GRCm39) |
T383A |
probably damaging |
Het |
| Pcdha9 |
T |
A |
18: 37,131,707 (GRCm39) |
L259M |
possibly damaging |
Het |
| Pdgfd |
T |
C |
9: 6,293,818 (GRCm39) |
C131R |
probably damaging |
Het |
| Prrc2a |
C |
G |
17: 35,374,396 (GRCm39) |
R1418P |
probably damaging |
Het |
| Ptpra |
G |
T |
2: 30,327,589 (GRCm39) |
E114D |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,395,760 (GRCm39) |
C1157S |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,597,397 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,297,202 (GRCm39) |
V748A |
probably damaging |
Het |
| Serinc5 |
T |
A |
13: 92,825,194 (GRCm39) |
S208T |
probably benign |
Het |
| Sftpb |
A |
G |
6: 72,282,639 (GRCm39) |
I74V |
possibly damaging |
Het |
| Slc22a14 |
A |
C |
9: 118,999,643 (GRCm39) |
I516S |
possibly damaging |
Het |
| Slco2a1 |
G |
A |
9: 102,951,704 (GRCm39) |
C411Y |
possibly damaging |
Het |
| Spata31f1e |
T |
A |
4: 42,793,111 (GRCm39) |
L340F |
probably damaging |
Het |
| Tent5a |
G |
T |
9: 85,208,509 (GRCm39) |
R105S |
probably damaging |
Het |
| Tmem231 |
T |
C |
8: 112,645,563 (GRCm39) |
D112G |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,763,385 (GRCm39) |
W296R |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,890,343 (GRCm39) |
L982H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,550,862 (GRCm39) |
R23183I |
possibly damaging |
Het |
| Tuft1 |
T |
A |
3: 94,542,726 (GRCm39) |
Y46F |
probably damaging |
Het |
| Vmn1r167 |
T |
A |
7: 23,205,014 (GRCm39) |
M1L |
probably null |
Het |
| Zfp808 |
A |
G |
13: 62,319,646 (GRCm39) |
R292G |
possibly damaging |
Het |
| Zp2 |
T |
C |
7: 119,731,748 (GRCm39) |
E669G |
probably benign |
Het |
| Zp2 |
C |
T |
7: 119,741,136 (GRCm39) |
M129I |
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 |
|
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 |
|
|
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 |
|
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'- TAACGGTGCCTGTCCTTCTGAG -3'
(R):5'- CTATTTCTCAGAGGGAGGCTCC -3'
Sequencing Primer
(F):5'- CCTGTCCTTCTGAGGCTTGG -3'
(R):5'- GCTGTCTTCAGAGCCTGACAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation