Incidental Mutation 'R5153:Tet1'
ID |
395535 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
042735-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5153 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 62714357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 479
(N479K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
[ENSMUST00000218438]
[ENSMUST00000218782]
[ENSMUST00000227494]
[ENSMUST00000228901]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050826
AA Change: N479K
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: N479K
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
low complexity region
|
553 |
564 |
N/A |
INTRINSIC |
Pfam:zf-CXXC
|
566 |
607 |
2.5e-11 |
PFAM |
low complexity region
|
884 |
902 |
N/A |
INTRINSIC |
low complexity region
|
1087 |
1106 |
N/A |
INTRINSIC |
Tet_JBP
|
1528 |
1931 |
1e-171 |
SMART |
low complexity region
|
1944 |
1956 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174189
AA Change: N479K
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: N479K
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
21 |
N/A |
INTRINSIC |
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
low complexity region
|
553 |
564 |
N/A |
INTRINSIC |
Pfam:zf-CXXC
|
566 |
607 |
2.7e-10 |
PFAM |
low complexity region
|
884 |
902 |
N/A |
INTRINSIC |
low complexity region
|
1087 |
1106 |
N/A |
INTRINSIC |
Tet_JBP
|
1528 |
1963 |
7.36e-170 |
SMART |
low complexity region
|
1976 |
1988 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218438
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218782
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227494
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228901
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation. [provided by RefSeq, Sep 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit background sensitive lethality, abnormal forebrain development, abnormal female reproductive organs and decreased litter size. Mice homozygous for a different knock-out allele exhibit impaired adult neurogenesis, impaired spatial learning and impaired short-term memory retention. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
A |
T |
11: 99,728,073 (GRCm39) |
C257S |
unknown |
Het |
4930596D02Rik |
C |
A |
14: 35,532,212 (GRCm39) |
R121L |
probably benign |
Het |
Aadacl4fm1 |
T |
A |
4: 144,248,837 (GRCm39) |
M68K |
probably benign |
Het |
Acin1 |
A |
G |
14: 54,883,070 (GRCm39) |
V194A |
probably benign |
Het |
Acsm1 |
T |
C |
7: 119,239,950 (GRCm39) |
I298T |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,885,681 (GRCm39) |
N729D |
probably benign |
Het |
Apobr |
C |
T |
7: 126,186,904 (GRCm39) |
T20I |
possibly damaging |
Het |
Arsb |
A |
G |
13: 94,077,106 (GRCm39) |
E491G |
probably benign |
Het |
AW209491 |
C |
G |
13: 14,811,764 (GRCm39) |
Q206E |
probably benign |
Het |
Camsap1 |
A |
T |
2: 25,823,630 (GRCm39) |
N1473K |
probably damaging |
Het |
Casp8 |
A |
G |
1: 58,884,004 (GRCm39) |
Q457R |
probably benign |
Het |
Ccdc154 |
G |
A |
17: 25,387,315 (GRCm39) |
A350T |
probably damaging |
Het |
Cecr2 |
A |
G |
6: 120,711,521 (GRCm39) |
E183G |
probably benign |
Het |
Cep295 |
A |
T |
9: 15,268,925 (GRCm39) |
S39T |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,811,692 (GRCm39) |
I416K |
probably damaging |
Het |
Cidea |
C |
T |
18: 67,500,490 (GRCm39) |
T184M |
probably damaging |
Het |
Cnot10 |
G |
A |
9: 114,442,803 (GRCm39) |
A468V |
probably damaging |
Het |
Cstdc1 |
A |
G |
2: 148,625,360 (GRCm39) |
Q98R |
probably benign |
Het |
Defb22 |
A |
T |
2: 152,327,722 (GRCm39) |
N154K |
unknown |
Het |
Dnah17 |
A |
T |
11: 117,973,800 (GRCm39) |
C1915* |
probably null |
Het |
Dnah2 |
T |
C |
11: 69,411,759 (GRCm39) |
T288A |
possibly damaging |
Het |
Dop1b |
T |
A |
16: 93,570,891 (GRCm39) |
M1512K |
probably damaging |
Het |
Dsp |
T |
G |
13: 38,366,282 (GRCm39) |
I572S |
probably damaging |
Het |
Eepd1 |
A |
G |
9: 25,498,049 (GRCm39) |
H378R |
probably benign |
Het |
Elapor1 |
A |
T |
3: 108,380,063 (GRCm39) |
Y349N |
possibly damaging |
Het |
Emilin2 |
A |
G |
17: 71,580,497 (GRCm39) |
M743T |
possibly damaging |
Het |
Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
F2rl2 |
A |
G |
13: 95,833,620 (GRCm39) |
T17A |
probably benign |
Het |
Fbxl8 |
T |
G |
8: 105,993,739 (GRCm39) |
C32G |
probably damaging |
Het |
Fbxw17 |
A |
G |
13: 50,573,897 (GRCm39) |
T38A |
probably damaging |
Het |
Flii |
A |
T |
11: 60,607,512 (GRCm39) |
L882Q |
possibly damaging |
Het |
Focad |
T |
G |
4: 88,278,121 (GRCm39) |
S1197A |
unknown |
Het |
H1f11-ps |
A |
G |
19: 47,159,356 (GRCm39) |
V73A |
probably damaging |
Het |
Heatr5b |
G |
A |
17: 79,102,536 (GRCm39) |
R1281* |
probably null |
Het |
Khdc3 |
A |
G |
9: 73,010,720 (GRCm39) |
Q190R |
probably benign |
Het |
Krt9 |
T |
A |
11: 100,082,068 (GRCm39) |
D244V |
probably damaging |
Het |
Ldhd |
T |
C |
8: 112,353,724 (GRCm39) |
E463G |
probably benign |
Het |
Lig4 |
A |
T |
8: 10,023,003 (GRCm39) |
V259E |
possibly damaging |
Het |
Luc7l3 |
A |
T |
11: 94,186,806 (GRCm39) |
|
probably benign |
Het |
Man1a2 |
T |
C |
3: 100,563,579 (GRCm39) |
E22G |
probably damaging |
Het |
Mmp23 |
T |
G |
4: 155,735,797 (GRCm39) |
D258A |
probably damaging |
Het |
Msantd2 |
C |
T |
9: 37,434,509 (GRCm39) |
R250* |
probably null |
Het |
Mynn |
T |
C |
3: 30,665,738 (GRCm39) |
S457P |
probably benign |
Het |
Nectin1 |
C |
T |
9: 43,714,795 (GRCm39) |
H50Y |
probably damaging |
Het |
Or10a3b |
T |
C |
7: 108,444,906 (GRCm39) |
I104V |
probably benign |
Het |
Or2d3c |
C |
T |
7: 106,525,776 (GRCm39) |
V297M |
possibly damaging |
Het |
Or4a47 |
G |
A |
2: 89,665,578 (GRCm39) |
T237I |
possibly damaging |
Het |
Or6c6c |
A |
G |
10: 129,541,026 (GRCm39) |
N93S |
probably benign |
Het |
Pfkfb2 |
G |
A |
1: 130,629,527 (GRCm39) |
T303M |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,368,705 (GRCm39) |
D841G |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,201,094 (GRCm39) |
|
probably null |
Het |
Podnl1 |
C |
T |
8: 84,857,272 (GRCm39) |
H294Y |
probably benign |
Het |
Ppig |
T |
A |
2: 69,579,994 (GRCm39) |
D509E |
unknown |
Het |
Ppp1r16a |
T |
A |
15: 76,578,596 (GRCm39) |
Y433* |
probably null |
Het |
Prdm1 |
A |
C |
10: 44,326,221 (GRCm39) |
V134G |
possibly damaging |
Het |
Prx |
T |
C |
7: 27,217,901 (GRCm39) |
S940P |
probably damaging |
Het |
Ptprd |
C |
T |
4: 75,930,339 (GRCm39) |
V731I |
probably damaging |
Het |
Qki |
A |
G |
17: 10,457,820 (GRCm39) |
|
probably null |
Het |
Rassf6 |
T |
C |
5: 90,754,699 (GRCm39) |
K206R |
possibly damaging |
Het |
Rdh16f2 |
G |
A |
10: 127,712,124 (GRCm39) |
E194K |
possibly damaging |
Het |
Rims1 |
C |
A |
1: 22,522,328 (GRCm39) |
G457* |
probably null |
Het |
Ripk1 |
T |
G |
13: 34,197,279 (GRCm39) |
I123R |
probably damaging |
Het |
Rnf111 |
A |
T |
9: 70,383,422 (GRCm39) |
S170R |
probably benign |
Het |
Shc3 |
A |
T |
13: 51,615,413 (GRCm39) |
F181L |
probably damaging |
Het |
Siglec1 |
A |
C |
2: 130,927,497 (GRCm39) |
V103G |
probably damaging |
Het |
Slc26a11 |
G |
T |
11: 119,268,085 (GRCm39) |
A488S |
possibly damaging |
Het |
Smoc2 |
A |
T |
17: 14,556,841 (GRCm39) |
T97S |
probably damaging |
Het |
Son |
T |
C |
16: 91,451,910 (GRCm39) |
I219T |
possibly damaging |
Het |
Sptbn1 |
A |
T |
11: 30,071,510 (GRCm39) |
I1474N |
possibly damaging |
Het |
Syt16 |
A |
T |
12: 74,269,542 (GRCm39) |
D127V |
possibly damaging |
Het |
Thsd7a |
G |
A |
6: 12,338,654 (GRCm39) |
A1192V |
probably benign |
Het |
Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
Traj57 |
A |
G |
14: 54,396,016 (GRCm39) |
|
probably benign |
Het |
Trpv1 |
G |
T |
11: 73,129,342 (GRCm39) |
R86S |
probably benign |
Het |
Usp48 |
T |
A |
4: 137,343,673 (GRCm39) |
F434L |
possibly damaging |
Het |
Vmn2r59 |
A |
C |
7: 41,691,834 (GRCm39) |
|
probably null |
Het |
Vmn2r71 |
T |
A |
7: 85,268,430 (GRCm39) |
I211N |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,422,599 (GRCm39) |
D186E |
probably damaging |
Het |
Vps33a |
A |
G |
5: 123,696,691 (GRCm39) |
S321P |
probably damaging |
Het |
Wdr12 |
A |
T |
1: 60,133,670 (GRCm39) |
D19E |
probably benign |
Het |
Zc3h12c |
A |
G |
9: 52,037,947 (GRCm39) |
F278L |
probably damaging |
Het |
Zpld1 |
T |
C |
16: 55,067,007 (GRCm39) |
T183A |
probably damaging |
Het |
Zswim2 |
G |
T |
2: 83,770,010 (GRCm39) |
T68K |
possibly damaging |
Het |
|
Other mutations in Tet1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00539:Tet1
|
APN |
10 |
62,650,276 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01079:Tet1
|
APN |
10 |
62,715,252 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01109:Tet1
|
APN |
10 |
62,715,553 (GRCm39) |
missense |
probably benign |
|
IGL01634:Tet1
|
APN |
10 |
62,714,367 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02003:Tet1
|
APN |
10 |
62,652,179 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02081:Tet1
|
APN |
10 |
62,649,597 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02100:Tet1
|
APN |
10 |
62,648,507 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02228:Tet1
|
APN |
10 |
62,649,513 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02524:Tet1
|
APN |
10 |
62,714,425 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02539:Tet1
|
APN |
10 |
62,648,798 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02608:Tet1
|
APN |
10 |
62,674,866 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02608:Tet1
|
APN |
10 |
62,715,388 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02702:Tet1
|
APN |
10 |
62,715,531 (GRCm39) |
missense |
possibly damaging |
0.83 |
K7371:Tet1
|
UTSW |
10 |
62,714,955 (GRCm39) |
missense |
probably benign |
|
R0166:Tet1
|
UTSW |
10 |
62,676,058 (GRCm39) |
missense |
probably benign |
0.05 |
R0371:Tet1
|
UTSW |
10 |
62,714,178 (GRCm39) |
missense |
probably damaging |
0.97 |
R0373:Tet1
|
UTSW |
10 |
62,713,988 (GRCm39) |
nonsense |
probably null |
|
R0391:Tet1
|
UTSW |
10 |
62,650,325 (GRCm39) |
splice site |
probably null |
|
R0445:Tet1
|
UTSW |
10 |
62,715,720 (GRCm39) |
missense |
probably benign |
0.08 |
R1016:Tet1
|
UTSW |
10 |
62,715,729 (GRCm39) |
missense |
probably benign |
|
R1344:Tet1
|
UTSW |
10 |
62,650,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R1546:Tet1
|
UTSW |
10 |
62,648,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R1651:Tet1
|
UTSW |
10 |
62,715,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R1725:Tet1
|
UTSW |
10 |
62,650,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R1752:Tet1
|
UTSW |
10 |
62,648,768 (GRCm39) |
missense |
probably damaging |
0.99 |
R1834:Tet1
|
UTSW |
10 |
62,649,444 (GRCm39) |
missense |
probably damaging |
0.99 |
R1964:Tet1
|
UTSW |
10 |
62,648,726 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2239:Tet1
|
UTSW |
10 |
62,715,513 (GRCm39) |
missense |
probably benign |
0.01 |
R2962:Tet1
|
UTSW |
10 |
62,650,323 (GRCm39) |
nonsense |
probably null |
|
R3084:Tet1
|
UTSW |
10 |
62,715,400 (GRCm39) |
missense |
probably benign |
0.34 |
R3086:Tet1
|
UTSW |
10 |
62,715,400 (GRCm39) |
missense |
probably benign |
0.34 |
R3972:Tet1
|
UTSW |
10 |
62,649,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R4622:Tet1
|
UTSW |
10 |
62,655,253 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4674:Tet1
|
UTSW |
10 |
62,674,627 (GRCm39) |
missense |
probably damaging |
0.97 |
R4687:Tet1
|
UTSW |
10 |
62,674,570 (GRCm39) |
missense |
probably benign |
0.04 |
R4718:Tet1
|
UTSW |
10 |
62,649,591 (GRCm39) |
missense |
probably damaging |
0.96 |
R4801:Tet1
|
UTSW |
10 |
62,658,442 (GRCm39) |
missense |
probably damaging |
0.99 |
R4802:Tet1
|
UTSW |
10 |
62,658,442 (GRCm39) |
missense |
probably damaging |
0.99 |
R4903:Tet1
|
UTSW |
10 |
62,658,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R5193:Tet1
|
UTSW |
10 |
62,674,026 (GRCm39) |
missense |
probably benign |
0.22 |
R5225:Tet1
|
UTSW |
10 |
62,674,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R5437:Tet1
|
UTSW |
10 |
62,650,230 (GRCm39) |
missense |
probably benign |
0.01 |
R5465:Tet1
|
UTSW |
10 |
62,675,556 (GRCm39) |
missense |
probably benign |
|
R5535:Tet1
|
UTSW |
10 |
62,668,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R5586:Tet1
|
UTSW |
10 |
62,714,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R5763:Tet1
|
UTSW |
10 |
62,675,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R5788:Tet1
|
UTSW |
10 |
62,675,737 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5818:Tet1
|
UTSW |
10 |
62,652,187 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5860:Tet1
|
UTSW |
10 |
62,648,399 (GRCm39) |
splice site |
probably null |
|
R5975:Tet1
|
UTSW |
10 |
62,715,552 (GRCm39) |
missense |
probably benign |
0.37 |
R6041:Tet1
|
UTSW |
10 |
62,649,152 (GRCm39) |
missense |
probably damaging |
0.98 |
R6092:Tet1
|
UTSW |
10 |
62,649,494 (GRCm39) |
missense |
probably benign |
0.10 |
R6132:Tet1
|
UTSW |
10 |
62,649,079 (GRCm39) |
missense |
probably damaging |
0.99 |
R6157:Tet1
|
UTSW |
10 |
62,675,749 (GRCm39) |
missense |
probably damaging |
0.98 |
R6520:Tet1
|
UTSW |
10 |
62,715,792 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R7210:Tet1
|
UTSW |
10 |
62,650,280 (GRCm39) |
missense |
probably null |
0.95 |
R7223:Tet1
|
UTSW |
10 |
62,649,450 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7255:Tet1
|
UTSW |
10 |
62,658,415 (GRCm39) |
missense |
probably benign |
0.15 |
R7323:Tet1
|
UTSW |
10 |
62,715,818 (GRCm39) |
start gained |
probably benign |
|
R7472:Tet1
|
UTSW |
10 |
62,649,129 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7507:Tet1
|
UTSW |
10 |
62,668,671 (GRCm39) |
critical splice donor site |
probably null |
|
R7522:Tet1
|
UTSW |
10 |
62,654,762 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7849:Tet1
|
UTSW |
10 |
62,655,252 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7879:Tet1
|
UTSW |
10 |
62,714,825 (GRCm39) |
missense |
probably benign |
0.03 |
R8073:Tet1
|
UTSW |
10 |
62,649,132 (GRCm39) |
missense |
probably damaging |
0.98 |
R8098:Tet1
|
UTSW |
10 |
62,714,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R8147:Tet1
|
UTSW |
10 |
62,714,586 (GRCm39) |
missense |
probably benign |
0.01 |
R8355:Tet1
|
UTSW |
10 |
62,652,229 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8545:Tet1
|
UTSW |
10 |
62,648,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R8556:Tet1
|
UTSW |
10 |
62,675,985 (GRCm39) |
missense |
probably benign |
0.37 |
R8936:Tet1
|
UTSW |
10 |
62,676,063 (GRCm39) |
nonsense |
probably null |
|
R9173:Tet1
|
UTSW |
10 |
62,676,065 (GRCm39) |
missense |
probably benign |
|
R9414:Tet1
|
UTSW |
10 |
62,674,935 (GRCm39) |
missense |
probably benign |
0.01 |
R9584:Tet1
|
UTSW |
10 |
62,655,306 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tet1
|
UTSW |
10 |
62,654,764 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCAGCTGAGCCAGTGATGC -3'
(R):5'- ATGGATAGGAATGCTACCCCG -3'
Sequencing Primer
(F):5'- GTGATGCTGACCCGAGAAATCTC -3'
(R):5'- AATGCTACCCCGGACCTG -3'
|
Posted On |
2016-06-21 |