Incidental Mutation 'R4809:Tet3'
| ID |
370898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
042428-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R4809 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83379928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 747
(S747P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
[ENSMUST00000190295]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000056191
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089622
AA Change: S612P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: S612P
| 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 |
noncoding transcript
Transcript: ENSMUST00000184003
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186548
AA Change: S747P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: S747P
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190295
|
| SMART Domains |
Protein: ENSMUSP00000139679
Gene: ENSMUSG00000034832
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
96% (96/100) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,384,588 (GRCm39) |
V459A |
probably benign |
Het |
| Abca12 |
C |
T |
1: 71,318,015 (GRCm39) |
A1840T |
probably benign |
Het |
| Abhd6 |
T |
G |
14: 8,039,771 (GRCm38) |
M1R |
probably null |
Het |
| Abl1 |
T |
C |
2: 31,690,254 (GRCm39) |
L572P |
probably damaging |
Het |
| Adamts2 |
C |
A |
11: 50,694,517 (GRCm39) |
S1101R |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,600,507 (GRCm39) |
W200* |
probably null |
Het |
| AI661453 |
C |
A |
17: 47,778,112 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
A |
G |
10: 83,342,496 (GRCm39) |
F438S |
probably damaging |
Het |
| Ankrd49 |
G |
A |
9: 14,692,510 (GRCm39) |
T218I |
possibly damaging |
Het |
| Ano7 |
T |
C |
1: 93,322,288 (GRCm39) |
F410L |
probably benign |
Het |
| Aox4 |
T |
A |
1: 58,305,808 (GRCm39) |
F1271I |
probably damaging |
Het |
| Aqr |
T |
C |
2: 114,005,695 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,180,118 (GRCm39) |
S54P |
probably damaging |
Het |
| Aunip |
C |
A |
4: 134,238,450 (GRCm39) |
D16E |
possibly damaging |
Het |
| Btbd7 |
A |
G |
12: 102,760,003 (GRCm39) |
|
probably null |
Het |
| Cabp4 |
T |
C |
19: 4,189,290 (GRCm39) |
H89R |
probably benign |
Het |
| Ccni |
AAA |
AAACTAA |
5: 93,335,429 (GRCm39) |
|
probably benign |
Het |
| Chfr |
C |
T |
5: 110,306,700 (GRCm39) |
H410Y |
probably damaging |
Het |
| Churc1 |
C |
A |
12: 76,829,671 (GRCm39) |
L111M |
probably damaging |
Het |
| Clasp1 |
C |
T |
1: 118,388,980 (GRCm39) |
T113I |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,600,849 (GRCm39) |
Q745L |
probably benign |
Het |
| Col20a1 |
T |
C |
2: 180,640,454 (GRCm39) |
L537P |
probably damaging |
Het |
| Creb5 |
A |
T |
6: 53,587,411 (GRCm39) |
E47V |
probably null |
Het |
| Csnk1d |
A |
T |
11: 120,854,668 (GRCm39) |
|
probably benign |
Het |
| Cts6 |
A |
T |
13: 61,349,995 (GRCm39) |
W29R |
probably damaging |
Het |
| Dbt |
T |
A |
3: 116,339,992 (GRCm39) |
I420N |
probably damaging |
Het |
| Det1 |
C |
A |
7: 78,493,555 (GRCm39) |
D150Y |
probably damaging |
Het |
| Dlk2 |
A |
G |
17: 46,609,940 (GRCm39) |
|
probably null |
Het |
| Dnmt3a |
A |
T |
12: 3,950,352 (GRCm39) |
I639F |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,784,008 (GRCm39) |
Y1989N |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,599,678 (GRCm39) |
T765S |
possibly damaging |
Het |
| Entrep2 |
G |
A |
7: 64,426,488 (GRCm39) |
T159I |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
| Fam227b |
T |
A |
2: 125,958,045 (GRCm39) |
Y240F |
possibly damaging |
Het |
| Fbxw21 |
C |
T |
9: 108,972,458 (GRCm39) |
V395I |
probably damaging |
Het |
| Fn1 |
C |
A |
1: 71,691,959 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs3 |
A |
T |
17: 20,844,683 (GRCm39) |
S153T |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,561,316 (GRCm39) |
F1064L |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gjd2 |
C |
T |
2: 113,842,022 (GRCm39) |
G152R |
probably damaging |
Het |
| Gpr75 |
T |
C |
11: 30,842,154 (GRCm39) |
I353T |
possibly damaging |
Het |
| Grb7 |
T |
C |
11: 98,342,262 (GRCm39) |
V145A |
possibly damaging |
Het |
| Igkv4-73 |
G |
A |
6: 69,174,807 (GRCm39) |
R40W |
unknown |
Het |
| Kif1c |
C |
T |
11: 70,617,183 (GRCm39) |
A839V |
probably benign |
Het |
| Krt31 |
G |
A |
11: 99,940,748 (GRCm39) |
A125V |
possibly damaging |
Het |
| Lamb1 |
A |
G |
12: 31,328,525 (GRCm39) |
Y163C |
probably damaging |
Het |
| Mars1 |
G |
T |
10: 127,136,084 (GRCm39) |
T535K |
probably damaging |
Het |
| Mdc1 |
T |
C |
17: 36,159,993 (GRCm39) |
|
probably null |
Het |
| Micos10 |
C |
G |
4: 138,858,268 (GRCm39) |
W10S |
probably damaging |
Het |
| Micu1 |
C |
T |
10: 59,576,644 (GRCm39) |
H167Y |
probably benign |
Het |
| Mrgprb1 |
C |
T |
7: 48,097,739 (GRCm39) |
V58I |
possibly damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,647,758 (GRCm39) |
E6V |
possibly damaging |
Het |
| Nectin3 |
A |
C |
16: 46,268,523 (GRCm39) |
|
probably benign |
Het |
| Or13a18 |
A |
G |
7: 140,190,987 (GRCm39) |
K295E |
probably damaging |
Het |
| Or4k44 |
C |
T |
2: 111,367,956 (GRCm39) |
C226Y |
probably benign |
Het |
| Or52ab7 |
T |
A |
7: 102,977,730 (GRCm39) |
Y12* |
probably null |
Het |
| Or8k38 |
T |
A |
2: 86,488,029 (GRCm39) |
M258L |
possibly damaging |
Het |
| Pex16 |
T |
C |
2: 92,206,983 (GRCm39) |
S54P |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,254,080 (GRCm39) |
S636T |
possibly damaging |
Het |
| Plin5 |
A |
G |
17: 56,423,855 (GRCm39) |
S27P |
probably benign |
Het |
| Ptch1 |
A |
T |
13: 63,661,522 (GRCm39) |
D1068E |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,399,036 (GRCm39) |
T1960A |
probably damaging |
Het |
| Rap1gap2 |
T |
C |
11: 74,298,800 (GRCm39) |
|
probably benign |
Het |
| Rcc2 |
G |
A |
4: 140,444,353 (GRCm39) |
R348Q |
probably damaging |
Het |
| Rhbdd3 |
C |
A |
11: 5,055,949 (GRCm39) |
A377D |
probably damaging |
Het |
| Rpl7 |
T |
G |
1: 16,172,189 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
G |
T |
9: 119,648,936 (GRCm39) |
D42E |
probably benign |
Het |
| Scube3 |
C |
T |
17: 28,384,147 (GRCm39) |
R549W |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,458,428 (GRCm39) |
M189K |
probably damaging |
Het |
| Slc39a6 |
G |
A |
18: 24,718,531 (GRCm39) |
Q225* |
probably null |
Het |
| Slc7a15 |
A |
T |
12: 8,589,002 (GRCm39) |
C182S |
probably benign |
Het |
| Spata21 |
G |
A |
4: 140,824,431 (GRCm39) |
|
probably null |
Het |
| Stim2 |
T |
C |
5: 54,267,955 (GRCm39) |
V417A |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,246,182 (GRCm39) |
D993G |
probably damaging |
Het |
| Tmem86a |
C |
G |
7: 46,702,678 (GRCm39) |
S34R |
possibly damaging |
Het |
| Top2b |
T |
A |
14: 16,383,125 (GRCm38) |
S38T |
probably benign |
Het |
| Trim33 |
A |
T |
3: 103,236,572 (GRCm39) |
T561S |
possibly damaging |
Het |
| Ttc39a |
C |
T |
4: 109,273,218 (GRCm39) |
Q25* |
probably null |
Het |
| Urb1 |
A |
G |
16: 90,556,730 (GRCm39) |
I1816T |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,270,873 (GRCm39) |
|
probably null |
Het |
| Usp36 |
A |
C |
11: 118,153,896 (GRCm39) |
L840R |
probably damaging |
Het |
| Usp50 |
C |
A |
2: 126,619,773 (GRCm39) |
|
probably benign |
Het |
| Vangl2 |
A |
G |
1: 171,837,230 (GRCm39) |
V193A |
possibly damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,866 (GRCm39) |
H182Q |
probably benign |
Het |
| Vmn2r124 |
A |
T |
17: 18,294,007 (GRCm39) |
Y698F |
probably benign |
Het |
| Wls |
C |
T |
3: 159,603,082 (GRCm39) |
T165I |
probably benign |
Het |
| Zfp808 |
G |
T |
13: 62,319,106 (GRCm39) |
E112* |
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 |
|
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 |
|
R4291:Tet3
|
UTSW |
6 |
83,350,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4349:Tet3
|
UTSW |
6 |
83,380,257 (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'- TGACTCCAAGAAGCCACTGAGG -3'
(R):5'- GCGCTATTTGCACCTAGTCC -3'
Sequencing Primer
(F):5'- CCACTGAGGGTTGGTGTGAG -3'
(R):5'- GCTGCCCCCTACTCAGGAAATG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation