Incidental Mutation 'R1550:Tet3'
| ID |
169840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
039589-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R1550 (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 83363010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 856
(S856T)
|
| 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: S721T
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: S721T
| 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: S856T
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: S856T
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.2%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,654,668 (GRCm39) |
V551A |
probably benign |
Het |
| Acss1 |
A |
T |
2: 150,484,715 (GRCm39) |
L176Q |
probably damaging |
Het |
| Aldh7a1 |
A |
G |
18: 56,683,454 (GRCm39) |
I117T |
possibly damaging |
Het |
| Arf5 |
C |
T |
6: 28,426,152 (GRCm39) |
R180C |
probably damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,886,576 (GRCm39) |
Y39* |
probably null |
Het |
| Arrdc1 |
A |
G |
2: 24,816,351 (GRCm39) |
L206P |
probably damaging |
Het |
| Cby3 |
A |
T |
11: 50,250,313 (GRCm39) |
Y173F |
probably damaging |
Het |
| Cdh18 |
T |
A |
15: 23,436,634 (GRCm39) |
C497S |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,725,442 (GRCm39) |
I226V |
probably benign |
Het |
| Ddit4l |
T |
A |
3: 137,330,036 (GRCm39) |
|
probably null |
Het |
| Ddx11 |
C |
T |
17: 66,445,215 (GRCm39) |
T405I |
probably benign |
Het |
| Dhx40 |
A |
T |
11: 86,667,565 (GRCm39) |
|
probably null |
Het |
| Dlgap2 |
A |
G |
8: 14,872,499 (GRCm39) |
D659G |
probably damaging |
Het |
| Eef2 |
A |
G |
10: 81,016,681 (GRCm39) |
E586G |
probably benign |
Het |
| Fam161a |
A |
G |
11: 22,970,470 (GRCm39) |
Q216R |
possibly damaging |
Het |
| Fbxw24 |
G |
T |
9: 109,436,112 (GRCm39) |
R307S |
probably benign |
Het |
| Gbp2b |
G |
T |
3: 142,312,591 (GRCm39) |
A325S |
probably damaging |
Het |
| Gli1 |
A |
T |
10: 127,174,385 (GRCm39) |
F2Y |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,938,027 (GRCm39) |
V269A |
probably damaging |
Het |
| Grin1 |
A |
G |
2: 25,195,143 (GRCm39) |
V292A |
probably benign |
Het |
| Heg1 |
T |
A |
16: 33,555,923 (GRCm39) |
V1001E |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,785,406 (GRCm39) |
I1552N |
probably damaging |
Het |
| Htr1a |
A |
G |
13: 105,581,788 (GRCm39) |
T343A |
probably benign |
Het |
| Itk |
G |
T |
11: 46,280,153 (GRCm39) |
R29S |
probably damaging |
Het |
| Ivns1abp |
G |
T |
1: 151,237,242 (GRCm39) |
G469C |
probably damaging |
Het |
| Jph3 |
A |
T |
8: 122,511,598 (GRCm39) |
N529Y |
possibly damaging |
Het |
| Kdm2b |
A |
G |
5: 123,019,120 (GRCm39) |
L829P |
probably damaging |
Het |
| Kprp |
T |
A |
3: 92,732,033 (GRCm39) |
Y339F |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,333,005 (GRCm39) |
V1504A |
possibly damaging |
Het |
| Lypd6b |
A |
G |
2: 49,833,615 (GRCm39) |
D85G |
probably damaging |
Het |
| Mansc4 |
T |
C |
6: 146,977,136 (GRCm39) |
Y160C |
probably damaging |
Het |
| Mgll |
C |
A |
6: 88,790,871 (GRCm39) |
H164N |
probably benign |
Het |
| Mtmr4 |
A |
T |
11: 87,504,342 (GRCm39) |
D1097V |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,536,241 (GRCm39) |
K571E |
probably damaging |
Het |
| Nfat5 |
A |
T |
8: 108,097,205 (GRCm39) |
N1527Y |
probably damaging |
Het |
| Nlgn1 |
A |
G |
3: 25,966,808 (GRCm39) |
L215P |
probably damaging |
Het |
| Or6b9 |
T |
A |
7: 106,555,235 (GRCm39) |
I303L |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,627,020 (GRCm39) |
S1173G |
probably damaging |
Het |
| Prrt3 |
A |
T |
6: 113,472,468 (GRCm39) |
V568E |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,383,313 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
| Rnf7l |
A |
G |
10: 63,257,427 (GRCm39) |
L31P |
probably damaging |
Het |
| Sema5a |
G |
A |
15: 32,618,995 (GRCm39) |
A508T |
probably benign |
Het |
| Serpinb11 |
T |
C |
1: 107,307,418 (GRCm39) |
I283T |
possibly damaging |
Het |
| Setbp1 |
A |
T |
18: 78,901,807 (GRCm39) |
L620Q |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,082,628 (GRCm39) |
C756S |
probably benign |
Het |
| Sirpa |
A |
T |
2: 129,471,961 (GRCm39) |
I463F |
probably damaging |
Het |
| Slc13a2 |
G |
T |
11: 78,293,990 (GRCm39) |
N257K |
probably damaging |
Het |
| Slc4a5 |
C |
A |
6: 83,248,039 (GRCm39) |
T530N |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,714,790 (GRCm39) |
F125L |
probably benign |
Het |
| Tet2 |
G |
T |
3: 133,175,280 (GRCm39) |
Q1356K |
probably benign |
Het |
| Tg |
C |
T |
15: 66,565,279 (GRCm39) |
T1207I |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,287,525 (GRCm39) |
Y173C |
probably damaging |
Het |
| Tlr6 |
T |
A |
5: 65,110,754 (GRCm39) |
I718F |
probably damaging |
Het |
| Tnfrsf11b |
A |
G |
15: 54,117,454 (GRCm39) |
V267A |
possibly damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,790,753 (GRCm39) |
N446Y |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,915,083 (GRCm39) |
C521Y |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,282,260 (GRCm39) |
D394G |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,692,549 (GRCm39) |
M142K |
possibly damaging |
Het |
| Zfp780b |
T |
C |
7: 27,664,282 (GRCm39) |
D91G |
probably benign |
Het |
| Zfp97 |
T |
A |
17: 17,365,468 (GRCm39) |
Y322* |
probably null |
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 |
|
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 |
|
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'- TCAGGACAGAGTCCACGTATGGAG -3'
(R):5'- TGAGCTGAAGTCCAAATGGTTAGGC -3'
Sequencing Primer
(F):5'- caagacaaccacacagcag -3'
(R):5'- tgagtttaattgtattgtgcatttcc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation