Incidental Mutation 'R7436:Tet3'
| ID |
580551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
045512-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R7436 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
TGGCCCAGGCCCAGGC to TGGCCCAGGCCCAGGCCCAGGC
at 83345211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089622
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
| 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 benign
Transcript: ENSMUST00000186548
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (66/68) |
| 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 |
|---|
| 1700024B05Rik |
A |
G |
14: 41,805,178 (GRCm39) |
|
probably null |
Het |
| 2310034C09Rik |
A |
G |
16: 88,556,242 (GRCm39) |
Y152C |
probably benign |
Het |
| Acads |
C |
A |
5: 115,249,057 (GRCm39) |
Q365H |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,736,354 (GRCm39) |
S103P |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 102,981,435 (GRCm39) |
|
probably null |
Het |
| Apoa1 |
T |
A |
9: 46,141,100 (GRCm39) |
|
probably null |
Het |
| Asb16 |
A |
G |
11: 102,163,481 (GRCm39) |
D157G |
possibly damaging |
Het |
| Bank1 |
T |
C |
3: 135,761,561 (GRCm39) |
N748D |
possibly damaging |
Het |
| BC034090 |
C |
A |
1: 155,102,127 (GRCm39) |
G46W |
probably damaging |
Het |
| Ccdc202 |
A |
T |
14: 96,120,027 (GRCm39) |
K261N |
probably benign |
Het |
| Ccdc73 |
T |
A |
2: 104,782,214 (GRCm39) |
V190E |
probably damaging |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
A |
G |
19: 10,559,696 (GRCm39) |
Y7C |
probably damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,857,668 (GRCm39) |
D427V |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,131 (GRCm39) |
T295A |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,087,447 (GRCm39) |
T510A |
probably benign |
Het |
| Dennd6a |
G |
T |
14: 26,300,865 (GRCm39) |
E26* |
probably null |
Het |
| Dusp10 |
T |
C |
1: 183,801,418 (GRCm39) |
I395T |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,772,352 (GRCm39) |
H439L |
probably damaging |
Het |
| Heatr5b |
T |
A |
17: 79,075,962 (GRCm39) |
D1452V |
probably benign |
Het |
| Hsd3b2 |
A |
G |
3: 98,619,112 (GRCm39) |
F278L |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,242,975 (GRCm39) |
M702K |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,310,546 (GRCm39) |
F4081L |
probably damaging |
Het |
| Ido1 |
T |
G |
8: 25,076,932 (GRCm39) |
T209P |
probably benign |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,691,303 (GRCm39) |
Y689C |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,350,436 (GRCm39) |
R3809Q |
probably benign |
Het |
| Manea |
T |
C |
4: 26,328,228 (GRCm39) |
Y271C |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,971,036 (GRCm39) |
T1014A |
probably benign |
Het |
| Nek5 |
A |
G |
8: 22,598,056 (GRCm39) |
F200L |
probably damaging |
Het |
| Nipal1 |
A |
G |
5: 72,824,984 (GRCm39) |
I226V |
probably benign |
Het |
| Nipsnap3a |
A |
T |
4: 52,994,159 (GRCm39) |
N80I |
probably damaging |
Het |
| Nmur1 |
G |
A |
1: 86,314,100 (GRCm39) |
P389S |
probably benign |
Het |
| Or10d5 |
G |
T |
9: 39,861,349 (GRCm39) |
C239* |
probably null |
Het |
| Or1p1 |
T |
C |
11: 74,179,511 (GRCm39) |
L13P |
possibly damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,251 (GRCm39) |
Y290C |
probably damaging |
Het |
| Patl2 |
A |
C |
2: 121,958,006 (GRCm39) |
V84G |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,328 (GRCm39) |
V546A |
probably damaging |
Het |
| Phf20l1 |
G |
T |
15: 66,469,599 (GRCm39) |
S168I |
possibly damaging |
Het |
| Phgdh |
T |
C |
3: 98,247,045 (GRCm39) |
N35S |
probably benign |
Het |
| Pigw |
A |
T |
11: 84,768,789 (GRCm39) |
M180K |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,270,925 (GRCm39) |
H3209Q |
probably benign |
Het |
| Plbd2 |
A |
G |
5: 120,624,861 (GRCm39) |
F436L |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,068,553 (GRCm39) |
T1358A |
probably benign |
Het |
| Poll |
C |
T |
19: 45,541,496 (GRCm39) |
V491M |
probably damaging |
Het |
| Polr1e |
A |
G |
4: 45,024,553 (GRCm39) |
|
probably null |
Het |
| Ppp1r35 |
G |
A |
5: 137,778,279 (GRCm39) |
W258* |
probably null |
Het |
| Ptpdc1 |
A |
T |
13: 48,740,142 (GRCm39) |
F430I |
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,555,742 (GRCm39) |
E739G |
probably damaging |
Het |
| Ramp2 |
T |
C |
11: 101,138,765 (GRCm39) |
V148A |
possibly damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,501,747 (GRCm39) |
|
probably null |
Het |
| Rbm5 |
A |
G |
9: 107,627,593 (GRCm39) |
|
probably null |
Het |
| Rnf39 |
A |
T |
17: 37,254,241 (GRCm39) |
S88C |
probably benign |
Het |
| Rpl12 |
A |
G |
2: 32,853,836 (GRCm39) |
I155V |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,841,520 (GRCm39) |
T275S |
probably benign |
Het |
| Senp5 |
C |
T |
16: 31,794,847 (GRCm39) |
E596K |
unknown |
Het |
| Serpinb9d |
A |
G |
13: 33,379,916 (GRCm39) |
Y85C |
probably benign |
Het |
| Serpinf1 |
T |
A |
11: 75,307,142 (GRCm39) |
Y65F |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,068,404 (GRCm39) |
|
probably null |
Het |
| Spatc1 |
A |
T |
15: 76,152,568 (GRCm39) |
Q66L |
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,439,110 (GRCm39) |
D342G |
probably benign |
Het |
| Txk |
T |
A |
5: 72,853,922 (GRCm39) |
T472S |
probably damaging |
Het |
| Ube2j2 |
T |
C |
4: 156,041,788 (GRCm39) |
V249A |
probably damaging |
Het |
| Utrn |
A |
C |
10: 12,315,535 (GRCm39) |
N3025K |
possibly damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,862 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,694 (GRCm39) |
S157T |
probably benign |
Het |
| Zfp977 |
A |
G |
7: 42,229,884 (GRCm39) |
S214P |
probably benign |
Het |
| Zscan10 |
T |
C |
17: 23,828,979 (GRCm39) |
L507P |
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 |
|
|
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 |
|
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'- GCCAGTGACCTTTGTGTAGG -3'
(R):5'- ACTTCCTGGATGAGAACATAGGC -3'
Sequencing Primer
(F):5'- CTTTGTGTAGGCGTAAGAGGACAC -3'
(R):5'- ATCCTCATCGAGTGTGCCCG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation