Incidental Mutation 'R1658:Tet3'
| ID |
186529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
039694-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R1658 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83346039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1331
(V1331E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089622
AA Change: V1331E
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: V1331E
| 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
AA Change: V1466E
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: V1466E
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
T |
G |
5: 129,255,164 (GRCm39) |
S604A |
probably benign |
Het |
| Apbb1 |
G |
A |
7: 105,223,291 (GRCm39) |
P107S |
probably damaging |
Het |
| Baz2a |
T |
A |
10: 127,960,252 (GRCm39) |
M1489K |
probably benign |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdca2 |
A |
G |
14: 67,915,148 (GRCm39) |
S704P |
possibly damaging |
Het |
| Cemip2 |
T |
C |
19: 21,779,243 (GRCm39) |
V351A |
probably damaging |
Het |
| Chfr |
T |
C |
5: 110,301,035 (GRCm39) |
I312T |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,131,739 (GRCm39) |
V1662A |
possibly damaging |
Het |
| Dgkd |
T |
A |
1: 87,853,990 (GRCm39) |
L611Q |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,666,673 (GRCm39) |
V1376A |
probably benign |
Het |
| Elp2 |
C |
T |
18: 24,750,470 (GRCm39) |
T269M |
probably benign |
Het |
| Ephb6 |
T |
A |
6: 41,591,179 (GRCm39) |
V112E |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
| Frem1 |
C |
T |
4: 82,920,045 (GRCm39) |
R437Q |
probably damaging |
Het |
| G6pc2 |
A |
T |
2: 69,057,413 (GRCm39) |
K353M |
probably damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,358,399 (GRCm39) |
T46A |
probably damaging |
Het |
| Gbp9 |
T |
A |
5: 105,242,334 (GRCm39) |
Q135L |
probably damaging |
Het |
| Gstp1 |
A |
T |
19: 4,087,375 (GRCm39) |
M20K |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,649,193 (GRCm39) |
R183G |
probably damaging |
Het |
| Ints11 |
A |
G |
4: 155,972,185 (GRCm39) |
K397E |
probably damaging |
Het |
| Intu |
A |
G |
3: 40,647,211 (GRCm39) |
T695A |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,099,023 (GRCm39) |
V1437A |
probably damaging |
Het |
| Klhl24 |
T |
A |
16: 19,925,842 (GRCm39) |
Y123* |
probably null |
Het |
| Lipm |
C |
T |
19: 34,093,847 (GRCm39) |
L255F |
probably benign |
Het |
| Max |
A |
T |
12: 76,985,355 (GRCm39) |
M121K |
probably benign |
Het |
| Mga |
A |
T |
2: 119,772,170 (GRCm39) |
I1677L |
possibly damaging |
Het |
| Msantd1 |
T |
A |
5: 35,078,906 (GRCm39) |
L147Q |
probably benign |
Het |
| Msantd1 |
C |
A |
5: 35,078,905 (GRCm39) |
L147M |
probably damaging |
Het |
| Mylk4 |
T |
C |
13: 32,896,772 (GRCm39) |
D363G |
possibly damaging |
Het |
| Naaa |
T |
C |
5: 92,420,300 (GRCm39) |
|
probably null |
Het |
| Ninl |
A |
G |
2: 150,806,079 (GRCm39) |
Y381H |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,964,589 (GRCm39) |
N1391S |
probably damaging |
Het |
| Or6k8-ps1 |
G |
A |
1: 173,979,789 (GRCm39) |
A236T |
probably damaging |
Het |
| Or8g18 |
C |
T |
9: 39,149,255 (GRCm39) |
C155Y |
probably benign |
Het |
| Phip |
A |
G |
9: 82,753,551 (GRCm39) |
V1731A |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,931,939 (GRCm39) |
C488* |
probably null |
Het |
| Rgs7 |
T |
C |
1: 174,907,120 (GRCm39) |
I374V |
probably benign |
Het |
| Rin2 |
A |
T |
2: 145,718,376 (GRCm39) |
M574L |
probably benign |
Het |
| Rps18 |
A |
T |
17: 34,171,392 (GRCm39) |
D92E |
probably benign |
Het |
| Scrn1 |
T |
A |
6: 54,497,791 (GRCm39) |
I267L |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,532,023 (GRCm39) |
V67A |
probably benign |
Het |
| Syne1 |
T |
G |
10: 5,317,616 (GRCm39) |
M493L |
probably benign |
Het |
| Tbc1d2 |
G |
A |
4: 46,614,207 (GRCm39) |
R625C |
probably damaging |
Het |
| Tcerg1l |
A |
G |
7: 137,995,909 (GRCm39) |
S200P |
probably damaging |
Het |
| Ticrr |
A |
T |
7: 79,345,297 (GRCm39) |
I1721F |
possibly damaging |
Het |
| Tjp2 |
T |
C |
19: 24,090,311 (GRCm39) |
D577G |
probably damaging |
Het |
| Tmem38b |
A |
G |
4: 53,840,713 (GRCm39) |
M43V |
probably benign |
Het |
| Trabd |
T |
A |
15: 88,970,069 (GRCm39) |
|
probably null |
Het |
| Trpv5 |
C |
A |
6: 41,651,216 (GRCm39) |
D277Y |
probably damaging |
Het |
| Tubb1 |
A |
C |
2: 174,298,416 (GRCm39) |
D67A |
probably damaging |
Het |
| Ubxn7 |
A |
G |
16: 32,200,054 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
G |
A |
11: 21,283,774 (GRCm39) |
P98S |
probably benign |
Het |
| Vmn2r66 |
G |
T |
7: 84,656,955 (GRCm39) |
P150Q |
probably benign |
Het |
| Zbtb11 |
A |
T |
16: 55,794,588 (GRCm39) |
H55L |
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 |
|
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 |
|
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'- ACTTGTCTTGGAACCCAGGTCCAC -3'
(R):5'- TGAGTCCATTCCCAGAGACTCTGC -3'
Sequencing Primer
(F):5'- GGTTGAAATCCCCGGTTCC -3'
(R):5'- TTCCCAGAGACTCTGCTAAGATG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation