Incidental Mutation 'R2232:Tet3'
ID |
240101 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet3
|
Ensembl Gene |
ENSMUSG00000034832 |
Gene Name |
tet methylcytosine dioxygenase 3 |
Synonyms |
B430006D22Rik, D230004J03Rik |
MMRRC Submission |
040233-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.640)
|
Stock # |
R2232 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83346453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1328
(D1328G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
|
AlphaFold |
Q8BG87 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089622
AA Change: D1193G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000087049 Gene: ENSMUSG00000034832 AA Change: D1193G
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: D1328G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139630 Gene: ENSMUSG00000034832 AA Change: D1328G
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 |
0.1291 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
A |
C |
5: 121,657,795 (GRCm39) |
D499E |
possibly damaging |
Het |
Adamtsl2 |
G |
A |
2: 26,993,190 (GRCm39) |
G740E |
probably damaging |
Het |
Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
Akap9 |
G |
A |
5: 4,096,603 (GRCm39) |
V2493I |
probably damaging |
Het |
Ankra2 |
T |
C |
13: 98,407,646 (GRCm39) |
F199L |
probably damaging |
Het |
Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
Asns |
A |
G |
6: 7,689,316 (GRCm39) |
I62T |
possibly damaging |
Het |
Celf3 |
T |
A |
3: 94,387,566 (GRCm39) |
|
probably null |
Het |
Cyp4f37 |
A |
G |
17: 32,853,244 (GRCm39) |
T403A |
probably benign |
Het |
Dennd2b |
T |
C |
7: 109,156,414 (GRCm39) |
D112G |
probably benign |
Het |
Dgkd |
T |
A |
1: 87,857,464 (GRCm39) |
S725R |
probably benign |
Het |
Dnah5 |
G |
A |
15: 28,408,563 (GRCm39) |
|
probably null |
Het |
Entrep2 |
G |
A |
7: 64,408,970 (GRCm39) |
H475Y |
probably damaging |
Het |
Ergic3 |
A |
G |
2: 155,859,736 (GRCm39) |
T346A |
probably damaging |
Het |
Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
Ghrhr |
T |
C |
6: 55,362,444 (GRCm39) |
F347S |
probably damaging |
Het |
Htr2a |
A |
T |
14: 74,882,469 (GRCm39) |
I152F |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,441,761 (GRCm39) |
C219R |
probably damaging |
Het |
Kansl2 |
A |
G |
15: 98,422,359 (GRCm39) |
L403S |
probably damaging |
Het |
Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
L1cam |
T |
A |
X: 72,904,947 (GRCm39) |
N503I |
possibly damaging |
Het |
Lrrk2 |
A |
G |
15: 91,648,919 (GRCm39) |
K1638E |
probably benign |
Het |
Mcpt9 |
A |
T |
14: 56,265,445 (GRCm39) |
C85S |
probably benign |
Het |
Mindy3 |
C |
A |
2: 12,408,856 (GRCm39) |
R73M |
probably benign |
Het |
Mrgprb3 |
T |
C |
7: 48,292,770 (GRCm39) |
I260M |
probably benign |
Het |
Nes |
T |
A |
3: 87,886,238 (GRCm39) |
I1499N |
possibly damaging |
Het |
Ninl |
A |
G |
2: 150,791,970 (GRCm39) |
V851A |
probably benign |
Het |
Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
Or10j7 |
A |
G |
1: 173,011,182 (GRCm39) |
I273T |
probably benign |
Het |
Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
Pcare |
A |
G |
17: 72,056,279 (GRCm39) |
S1133P |
probably benign |
Het |
Pdk3 |
G |
T |
X: 92,857,604 (GRCm39) |
N59K |
probably damaging |
Het |
Pigq |
T |
C |
17: 26,151,183 (GRCm39) |
H322R |
probably benign |
Het |
Ppp3r1 |
G |
A |
11: 17,143,115 (GRCm39) |
G68R |
probably damaging |
Het |
Proz |
A |
G |
8: 13,113,356 (GRCm39) |
Y59C |
probably damaging |
Het |
Prpf39 |
C |
T |
12: 65,090,786 (GRCm39) |
R32* |
probably null |
Het |
Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
Pth2r |
G |
T |
1: 65,375,928 (GRCm39) |
W62L |
probably damaging |
Het |
Scin |
T |
A |
12: 40,118,930 (GRCm39) |
K622I |
probably damaging |
Het |
Serpinb6a |
T |
C |
13: 34,109,303 (GRCm39) |
K143R |
probably damaging |
Het |
Ska1 |
G |
T |
18: 74,330,137 (GRCm39) |
|
probably null |
Het |
Slc30a8 |
G |
T |
15: 52,169,960 (GRCm39) |
R62S |
probably benign |
Het |
Slc8a3 |
A |
C |
12: 81,361,994 (GRCm39) |
I275S |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
Spmap2l |
A |
G |
5: 77,207,252 (GRCm39) |
I337V |
possibly damaging |
Het |
Sspo |
A |
G |
6: 48,425,606 (GRCm39) |
I76V |
probably damaging |
Het |
Sult1c2 |
G |
T |
17: 54,138,848 (GRCm39) |
T243K |
probably benign |
Het |
Svil |
T |
A |
18: 5,046,640 (GRCm39) |
M1K |
probably null |
Het |
Tnfsf14 |
T |
C |
17: 57,500,876 (GRCm39) |
D65G |
probably benign |
Het |
Trmt9b |
T |
A |
8: 36,979,707 (GRCm39) |
C437S |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,260,831 (GRCm39) |
S1439P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
Usp20 |
A |
G |
2: 30,908,750 (GRCm39) |
N777S |
probably benign |
Het |
Zfp92 |
G |
T |
X: 72,466,358 (GRCm39) |
L450F |
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 |
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 |
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'- TTGTAGCAACTGGAACTCTGAGC -3'
(R):5'- ACCATTCGCGCTATGCACAG -3'
Sequencing Primer
(F):5'- CAACTGGAACTCTGAGCAAAGG -3'
(R):5'- TATGCACAGCCTGGCCTG -3'
|
Posted On |
2014-10-15 |