Incidental Mutation 'R1061:Tet3'
| ID |
94466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
D230004J03Rik, B430006D22Rik |
| MMRRC Submission |
039147-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.679)
|
| Stock # |
R1061 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83362373-83459084 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83373323 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1054
(N1054K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089622
AA Change: N919K
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: N919K
| 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: N1054K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: N1054K
| 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: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,277,809 (GRCm38) |
A715T |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 108,075,689 (GRCm38) |
Y641H |
probably damaging |
Het |
| Aqp4 |
A |
T |
18: 15,398,191 (GRCm38) |
V171E |
probably damaging |
Het |
| Arid4a |
T |
A |
12: 71,074,955 (GRCm38) |
S381R |
probably damaging |
Het |
| Armc8 |
T |
G |
9: 99,537,731 (GRCm38) |
N51H |
probably damaging |
Het |
| Asic5 |
T |
A |
3: 82,021,001 (GRCm38) |
Y424N |
probably damaging |
Het |
| Bcl11a |
A |
T |
11: 24,164,069 (GRCm38) |
K471* |
probably null |
Het |
| Birc6 |
A |
G |
17: 74,689,312 (GRCm38) |
T4494A |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,527,435 (GRCm38) |
I139T |
probably benign |
Het |
| Ccdc114 |
T |
C |
7: 45,941,755 (GRCm38) |
I218T |
probably damaging |
Het |
| Ccdc60 |
C |
A |
5: 116,172,468 (GRCm38) |
R178S |
possibly damaging |
Het |
| Cd163 |
C |
T |
6: 124,309,169 (GRCm38) |
A226V |
probably benign |
Het |
| Cog1 |
T |
G |
11: 113,652,037 (GRCm38) |
S170A |
probably benign |
Het |
| Cwc15 |
T |
C |
9: 14,507,915 (GRCm38) |
L169P |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,986,833 (GRCm38) |
D333E |
probably benign |
Het |
| Ddc |
C |
T |
11: 11,829,132 (GRCm38) |
V331I |
probably benign |
Het |
| Dlc1 |
T |
A |
8: 36,858,051 (GRCm38) |
T367S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,052,688 (GRCm38) |
D3183G |
possibly damaging |
Het |
| Eif2a |
T |
A |
3: 58,545,065 (GRCm38) |
Y165* |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,777,267 (GRCm38) |
D1285G |
probably damaging |
Het |
| Fam92b |
C |
A |
8: 120,169,704 (GRCm38) |
|
probably null |
Het |
| Fasn |
T |
C |
11: 120,822,182 (GRCm38) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,345,963 (GRCm38) |
T1549A |
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,342,713 (GRCm38) |
Y384C |
probably damaging |
Het |
| Flvcr1 |
A |
T |
1: 191,008,173 (GRCm38) |
V550E |
probably benign |
Het |
| Gcm2 |
A |
G |
13: 41,105,871 (GRCm38) |
W41R |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,854,517 (GRCm38) |
M160K |
possibly damaging |
Het |
| Gpr61 |
C |
T |
3: 108,150,307 (GRCm38) |
R346H |
probably damaging |
Het |
| Hoxa5 |
A |
T |
6: 52,204,155 (GRCm38) |
S66T |
probably benign |
Het |
| Hsph1 |
A |
T |
5: 149,618,418 (GRCm38) |
V781D |
possibly damaging |
Het |
| Kdm3b |
G |
A |
18: 34,796,862 (GRCm38) |
V220M |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,866,520 (GRCm38) |
Y391* |
probably null |
Het |
| Mc2r |
A |
T |
18: 68,407,809 (GRCm38) |
Y138N |
probably damaging |
Het |
| Mtap |
C |
A |
4: 89,156,584 (GRCm38) |
D106E |
probably benign |
Het |
| Nup43 |
G |
T |
10: 7,667,671 (GRCm38) |
W37L |
probably damaging |
Het |
| Nxpe2 |
T |
A |
9: 48,326,363 (GRCm38) |
E197D |
probably damaging |
Het |
| Olfr1098 |
A |
T |
2: 86,922,782 (GRCm38) |
V250D |
possibly damaging |
Het |
| Olfr484 |
T |
C |
7: 108,124,456 (GRCm38) |
Y269C |
probably damaging |
Het |
| Olfr544 |
T |
A |
7: 102,484,114 (GRCm38) |
*335C |
probably null |
Het |
| Olfr934 |
C |
A |
9: 38,982,483 (GRCm38) |
C187F |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,555,575 (GRCm38) |
H186R |
probably damaging |
Het |
| Pklr |
C |
T |
3: 89,144,881 (GRCm38) |
R467C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,644,093 (GRCm38) |
N112D |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,693,669 (GRCm38) |
Q328* |
probably null |
Het |
| Ppp3cb |
A |
C |
14: 20,508,614 (GRCm38) |
|
probably null |
Het |
| R3hcc1l |
C |
T |
19: 42,583,426 (GRCm38) |
R135* |
probably null |
Het |
| Ralyl |
A |
C |
3: 14,115,701 (GRCm38) |
D68A |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,110,324 (GRCm38) |
|
probably benign |
Het |
| S100a1 |
T |
C |
3: 90,511,312 (GRCm38) |
N65S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,795,663 (GRCm38) |
M531K |
probably damaging |
Het |
| Slc5a5 |
T |
A |
8: 70,890,221 (GRCm38) |
M232L |
probably benign |
Het |
| Tg |
A |
G |
15: 66,698,559 (GRCm38) |
N1427D |
probably benign |
Het |
| Tns1 |
A |
C |
1: 73,917,672 (GRCm38) |
V530G |
probably damaging |
Het |
| Trcg1 |
C |
A |
9: 57,245,873 (GRCm38) |
Q600K |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,768,706 (GRCm38) |
E40G |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,384,420 (GRCm38) |
F1138S |
possibly damaging |
Het |
| Vmn2r26 |
C |
T |
6: 124,061,644 (GRCm38) |
T726I |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 18,928,178 (GRCm38) |
R112* |
probably null |
Het |
| Vwa2 |
G |
T |
19: 56,908,994 (GRCm38) |
R577L |
probably benign |
Het |
| Vwa3b |
A |
C |
1: 37,157,430 (GRCm38) |
Q46P |
probably damaging |
Het |
| Wdr25 |
T |
A |
12: 108,992,799 (GRCm38) |
|
probably null |
Het |
| Wrap53 |
A |
G |
11: 69,562,400 (GRCm38) |
L405P |
probably damaging |
Het |
| Zfp629 |
C |
A |
7: 127,611,989 (GRCm38) |
W216L |
probably damaging |
Het |
|
| Other mutations in Tet3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00929:Tet3
|
APN |
6 |
83,368,655 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01396:Tet3
|
APN |
6 |
83,369,638 (GRCm38) |
nonsense |
probably null |
|
|
IGL02344:Tet3
|
APN |
6 |
83,403,833 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02987:Tet3
|
APN |
6 |
83,368,092 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03126:Tet3
|
APN |
6 |
83,376,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03155:Tet3
|
APN |
6 |
83,368,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03286:Tet3
|
APN |
6 |
83,375,778 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Reedy
|
UTSW |
6 |
83,368,084 (GRCm38) |
nonsense |
probably null |
|
|
P0033:Tet3
|
UTSW |
6 |
83,368,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0131:Tet3
|
UTSW |
6 |
83,368,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0295:Tet3
|
UTSW |
6 |
83,369,139 (GRCm38) |
missense |
probably benign |
0.14 |
|
R0504:Tet3
|
UTSW |
6 |
83,373,794 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0524:Tet3
|
UTSW |
6 |
83,379,942 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1160:Tet3
|
UTSW |
6 |
83,404,452 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1550:Tet3
|
UTSW |
6 |
83,386,028 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1640:Tet3
|
UTSW |
6 |
83,369,315 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1658:Tet3
|
UTSW |
6 |
83,369,057 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1746:Tet3
|
UTSW |
6 |
83,368,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1761:Tet3
|
UTSW |
6 |
83,403,659 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1832:Tet3
|
UTSW |
6 |
83,403,645 (GRCm38) |
missense |
probably benign |
|
|
R1835:Tet3
|
UTSW |
6 |
83,404,163 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1932:Tet3
|
UTSW |
6 |
83,404,379 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2014:Tet3
|
UTSW |
6 |
83,386,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2230:Tet3
|
UTSW |
6 |
83,369,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2232:Tet3
|
UTSW |
6 |
83,369,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2922:Tet3
|
UTSW |
6 |
83,368,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3429:Tet3
|
UTSW |
6 |
83,403,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3430:Tet3
|
UTSW |
6 |
83,403,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4291:Tet3
|
UTSW |
6 |
83,373,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4349:Tet3
|
UTSW |
6 |
83,403,275 (GRCm38) |
missense |
probably benign |
|
|
R4809:Tet3
|
UTSW |
6 |
83,402,946 (GRCm38) |
missense |
probably benign |
|
|
R4846:Tet3
|
UTSW |
6 |
83,376,883 (GRCm38) |
nonsense |
probably null |
|
|
R5039:Tet3
|
UTSW |
6 |
83,375,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5233:Tet3
|
UTSW |
6 |
83,386,063 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5363:Tet3
|
UTSW |
6 |
83,376,764 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5880:Tet3
|
UTSW |
6 |
83,370,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6270:Tet3
|
UTSW |
6 |
83,375,791 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6277:Tet3
|
UTSW |
6 |
83,368,084 (GRCm38) |
nonsense |
probably null |
|
|
R6564:Tet3
|
UTSW |
6 |
83,386,070 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6622:Tet3
|
UTSW |
6 |
83,403,444 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7089:Tet3
|
UTSW |
6 |
83,455,024 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7244:Tet3
|
UTSW |
6 |
83,370,621 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7251:Tet3
|
UTSW |
6 |
83,404,056 (GRCm38) |
missense |
probably benign |
|
|
R7361:Tet3
|
UTSW |
6 |
83,368,094 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7436:Tet3
|
UTSW |
6 |
83,368,229 (GRCm38) |
small insertion |
probably benign |
|
|
R7438:Tet3
|
UTSW |
6 |
83,368,229 (GRCm38) |
small insertion |
probably benign |
|
|
R7544:Tet3
|
UTSW |
6 |
83,404,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7552:Tet3
|
UTSW |
6 |
83,368,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7942:Tet3
|
UTSW |
6 |
83,376,974 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8010:Tet3
|
UTSW |
6 |
83,403,246 (GRCm38) |
missense |
unknown |
|
|
R8063:Tet3
|
UTSW |
6 |
83,402,741 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8307:Tet3
|
UTSW |
6 |
83,379,927 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9016:Tet3
|
UTSW |
6 |
83,368,271 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9020:Tet3
|
UTSW |
6 |
83,404,436 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9377:Tet3
|
UTSW |
6 |
83,403,614 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9476:Tet3
|
UTSW |
6 |
83,404,826 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9476:Tet3
|
UTSW |
6 |
83,403,953 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9510:Tet3
|
UTSW |
6 |
83,404,826 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9510:Tet3
|
UTSW |
6 |
83,403,953 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9582:Tet3
|
UTSW |
6 |
83,404,244 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9671:Tet3
|
UTSW |
6 |
83,404,154 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9801:Tet3
|
UTSW |
6 |
83,369,454 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
X0004:Tet3
|
UTSW |
6 |
83,403,423 (GRCm38) |
missense |
probably benign |
0.17 |
|
Z1176:Tet3
|
UTSW |
6 |
83,459,021 (GRCm38) |
missense |
unknown |
|
|
Z1176:Tet3
|
UTSW |
6 |
83,404,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Tet3
|
UTSW |
6 |
83,370,698 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Tet3
|
UTSW |
6 |
83,404,294 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATGTAGCCTAGCAGGCATCTC -3'
(R):5'- GGACCTCTCAACTGGAAAGCCTTC -3'
Sequencing Primer
(F):5'- CCTAGCAGGCATCTCTAGGAAG -3'
(R):5'- TGGAAAGCCTTCCCTCAATGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation