Incidental Mutation 'R4291:Tet3'
| ID |
323059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
041081-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R4291 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83350181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 961
(T961A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089622
AA Change: T961A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: T961A
| 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 damaging
Transcript: ENSMUST00000186548
AA Change: T1096A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: T1096A
| 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 |
0.3086 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,120,337 (GRCm39) |
F27S |
probably benign |
Het |
| AK157302 |
T |
A |
13: 21,679,715 (GRCm39) |
D80E |
probably damaging |
Het |
| Amz2 |
T |
C |
11: 109,324,881 (GRCm39) |
|
probably null |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Ankrd34c |
T |
A |
9: 89,611,817 (GRCm39) |
K175* |
probably null |
Het |
| Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,042,949 (GRCm39) |
V997M |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cd96 |
T |
A |
16: 45,892,112 (GRCm39) |
Q292L |
probably damaging |
Het |
| Cdh18 |
C |
A |
15: 22,714,637 (GRCm39) |
|
probably benign |
Het |
| Cfb |
T |
G |
17: 35,080,114 (GRCm39) |
D122A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,919,964 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
T |
A |
6: 76,859,728 (GRCm39) |
K854N |
probably damaging |
Het |
| Cwh43 |
G |
A |
5: 73,569,275 (GRCm39) |
V106M |
probably benign |
Het |
| Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,967,533 (GRCm39) |
S2582P |
probably benign |
Het |
| Eef2 |
A |
G |
10: 81,015,414 (GRCm39) |
T312A |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,063,966 (GRCm39) |
R934* |
probably null |
Het |
| Fam240b |
A |
T |
13: 64,629,627 (GRCm39) |
M63K |
possibly damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
| Gsn |
G |
A |
2: 35,180,432 (GRCm39) |
V147I |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hectd3 |
A |
G |
4: 116,852,889 (GRCm39) |
E97G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,392,599 (GRCm39) |
P802S |
possibly damaging |
Het |
| Lca5l |
C |
T |
16: 95,979,974 (GRCm39) |
S52N |
probably damaging |
Het |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Map3k4 |
G |
T |
17: 12,474,147 (GRCm39) |
Q845K |
probably benign |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,217 (GRCm39) |
V203A |
probably damaging |
Het |
| Mcm9 |
C |
A |
10: 53,423,668 (GRCm39) |
M677I |
probably benign |
Het |
| Mkrn2 |
A |
G |
6: 115,594,395 (GRCm39) |
T369A |
possibly damaging |
Het |
| Mthfr |
C |
A |
4: 148,139,949 (GRCm39) |
N623K |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,071,985 (GRCm39) |
V571A |
probably benign |
Het |
| Nom1 |
G |
A |
5: 29,651,370 (GRCm39) |
|
probably null |
Het |
| Nucb1 |
T |
A |
7: 45,144,704 (GRCm39) |
D283V |
probably damaging |
Het |
| Or12e8 |
G |
A |
2: 87,188,419 (GRCm39) |
M210I |
probably benign |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Pcdhb1 |
A |
C |
18: 37,398,470 (GRCm39) |
L140F |
probably damaging |
Het |
| Ptgs2 |
G |
A |
1: 149,976,002 (GRCm39) |
A10T |
probably benign |
Het |
| Rfx3 |
C |
T |
19: 27,777,632 (GRCm39) |
R497Q |
probably damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,410,702 (GRCm39) |
|
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Ttc27 |
T |
C |
17: 75,163,474 (GRCm39) |
L694P |
probably damaging |
Het |
| Vmn1r238 |
G |
A |
18: 3,123,214 (GRCm39) |
Q67* |
probably null |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,619,285 (GRCm39) |
Y1321F |
probably damaging |
Het |
| Wfdc1 |
C |
A |
8: 120,406,194 (GRCm39) |
P103Q |
probably damaging |
Het |
| Zfp488 |
C |
A |
14: 33,692,851 (GRCm39) |
C104F |
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 |
|
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'- TCACACGTTGGCTCTGGTTC -3'
(R):5'- TAACCTGCTCCTCTCTAAGATCTGG -3'
Sequencing Primer
(F):5'- GGCTCTGGTTCCTCGCATG -3'
(R):5'- TCGGGGCTGGTCACTCAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation