Incidental Mutation 'R6270:Tet3'
| ID |
507269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
044441-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R6270 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83352773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1008
(T1008A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089622
AA Change: T873A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: T873A
| 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 |
possibly damaging
Transcript: ENSMUST00000186548
AA Change: T1008A
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: T1008A
| 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 |
0.0595 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (51/52) |
| 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 |
|---|
| Acsl6 |
A |
G |
11: 54,242,933 (GRCm39) |
E648G |
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,734,960 (GRCm39) |
H642R |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,756,239 (GRCm39) |
E53G |
probably damaging |
Het |
| Ark2n |
T |
C |
18: 77,762,117 (GRCm39) |
D65G |
probably damaging |
Het |
| Ddr2 |
T |
G |
1: 169,816,109 (GRCm39) |
T533P |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,690,431 (GRCm39) |
S197P |
possibly damaging |
Het |
| Dolpp1 |
C |
A |
2: 30,282,281 (GRCm39) |
|
probably benign |
Het |
| Eng |
A |
G |
2: 32,563,655 (GRCm39) |
D347G |
probably benign |
Het |
| Esrra |
C |
T |
19: 6,891,488 (GRCm39) |
|
probably null |
Het |
| Fap |
T |
C |
2: 62,378,132 (GRCm39) |
I159V |
probably damaging |
Het |
| Fn1 |
C |
T |
1: 71,676,434 (GRCm39) |
C599Y |
probably damaging |
Het |
| Fnbp4 |
T |
C |
2: 90,587,807 (GRCm39) |
V395A |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,354,676 (GRCm39) |
R163G |
probably damaging |
Het |
| Gphn |
T |
G |
12: 78,569,724 (GRCm39) |
L306R |
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,295,902 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,295,295 (GRCm39) |
D62G |
possibly damaging |
Het |
| Hdac7 |
AGGG |
AGGGG |
15: 97,706,376 (GRCm39) |
|
probably null |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Kit |
A |
G |
5: 75,770,169 (GRCm39) |
T194A |
probably benign |
Het |
| Krt16 |
C |
A |
11: 100,138,029 (GRCm39) |
A316S |
possibly damaging |
Het |
| Krt7 |
A |
G |
15: 101,317,439 (GRCm39) |
D244G |
probably damaging |
Het |
| Lhfpl3 |
T |
A |
5: 23,478,349 (GRCm39) |
Y77* |
probably null |
Het |
| Lrrc18 |
A |
T |
14: 32,731,078 (GRCm39) |
M206L |
probably benign |
Het |
| Magel2 |
C |
A |
7: 62,030,406 (GRCm39) |
C1103* |
probably null |
Het |
| Mcf2l |
T |
C |
8: 13,068,701 (GRCm39) |
V1058A |
probably damaging |
Het |
| Nbas |
G |
A |
12: 13,374,294 (GRCm39) |
A541T |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,308,630 (GRCm39) |
M1485I |
probably benign |
Het |
| Nudt18 |
T |
C |
14: 70,816,830 (GRCm39) |
Y145H |
probably benign |
Het |
| Or51b6b |
T |
C |
7: 103,309,620 (GRCm39) |
Y279C |
possibly damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,538 (GRCm39) |
L11P |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,782 (GRCm39) |
C97S |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb12 |
A |
T |
18: 37,569,838 (GRCm39) |
Q328L |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,146,884 (GRCm39) |
W431R |
probably damaging |
Het |
| Pga5 |
T |
C |
19: 10,652,225 (GRCm39) |
E139G |
probably benign |
Het |
| Pkdrej |
G |
T |
15: 85,705,306 (GRCm39) |
S210* |
probably null |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Sema3d |
A |
T |
5: 12,498,074 (GRCm39) |
M27L |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,825,170 (GRCm39) |
S200P |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,568,452 (GRCm39) |
D174G |
probably damaging |
Het |
| Sult1b1 |
A |
T |
5: 87,665,413 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,570,725 (GRCm39) |
I342M |
probably benign |
Het |
| Tenm3 |
G |
A |
8: 48,820,429 (GRCm39) |
T136M |
probably damaging |
Het |
| Tgif1 |
T |
C |
17: 71,151,861 (GRCm39) |
|
probably null |
Het |
| Trav15-2-dv6-2 |
A |
G |
14: 53,887,323 (GRCm39) |
D81G |
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,651,293 (GRCm39) |
H251L |
possibly damaging |
Het |
| Ttc14 |
C |
A |
3: 33,854,537 (GRCm39) |
T37K |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,030,159 (GRCm39) |
I662L |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,129,649 (GRCm39) |
I847V |
probably benign |
Het |
| Zfp474 |
A |
G |
18: 52,771,436 (GRCm39) |
T30A |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,957,580 (GRCm39) |
V163M |
probably 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 |
|
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'- TTCCTCTAAAGCTGCCACG -3'
(R):5'- TACAGGGGCAGTGTCAACAG -3'
Sequencing Primer
(F):5'- AGTTTTCACACGGGCTGCTAAC -3'
(R):5'- CAGAGACCACATCTGTATGCTTGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation