Incidental Mutation 'R4674:Tet1'
ID |
348720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
041929-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4674 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62674627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1150
(F1150L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050826
AA Change: F1150L
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: F1150L
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 |
noncoding transcript
Transcript: ENSMUST00000173081
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174189
AA Change: F1150L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: F1150L
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,860,615 (GRCm39) |
I112T |
probably benign |
Het |
Acvr1b |
T |
C |
15: 101,100,939 (GRCm39) |
I367T |
possibly damaging |
Het |
Akr1b8 |
G |
A |
6: 34,333,359 (GRCm39) |
|
probably null |
Het |
Ash1l |
T |
C |
3: 88,979,783 (GRCm39) |
V2769A |
possibly damaging |
Het |
Asxl3 |
A |
T |
18: 22,650,795 (GRCm39) |
D928V |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,085,223 (GRCm39) |
V66E |
possibly damaging |
Het |
Cald1 |
AAGAGAGAGAGAGAG |
AAGAGAGAGAGAG |
6: 34,723,108 (GRCm39) |
|
probably null |
Het |
Cbx2 |
T |
A |
11: 118,919,935 (GRCm39) |
I500N |
probably damaging |
Het |
Ccdc82 |
A |
T |
9: 13,252,260 (GRCm39) |
H184L |
probably benign |
Het |
Cd84 |
A |
T |
1: 171,700,887 (GRCm39) |
H216L |
possibly damaging |
Het |
Ceacam15 |
T |
C |
7: 16,407,410 (GRCm39) |
T36A |
probably benign |
Het |
Cebpd |
A |
G |
16: 15,705,385 (GRCm39) |
D66G |
probably damaging |
Het |
Clec1b |
C |
A |
6: 129,377,097 (GRCm39) |
L47I |
probably damaging |
Het |
Cracr2b |
A |
G |
7: 141,043,451 (GRCm39) |
D43G |
probably damaging |
Het |
Crbn |
T |
A |
6: 106,767,932 (GRCm39) |
Q173L |
possibly damaging |
Het |
Cspg4 |
T |
C |
9: 56,805,489 (GRCm39) |
V2100A |
probably damaging |
Het |
Cyp46a1 |
T |
C |
12: 108,324,345 (GRCm39) |
L374P |
probably damaging |
Het |
Dhx16 |
T |
A |
17: 36,196,831 (GRCm39) |
V607E |
probably damaging |
Het |
Dido1 |
A |
G |
2: 180,329,352 (GRCm39) |
S357P |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,169,405 (GRCm39) |
I399F |
probably benign |
Het |
Dock10 |
T |
C |
1: 80,584,337 (GRCm39) |
E123G |
possibly damaging |
Het |
Dstyk |
A |
G |
1: 132,391,128 (GRCm39) |
D843G |
probably benign |
Het |
Efcab12 |
C |
A |
6: 115,800,610 (GRCm39) |
V138F |
probably damaging |
Het |
Egf |
A |
G |
3: 129,511,689 (GRCm39) |
F493L |
probably damaging |
Het |
Ephx1 |
A |
G |
1: 180,822,256 (GRCm39) |
F220S |
probably damaging |
Het |
Exoc6 |
T |
C |
19: 37,597,530 (GRCm39) |
F644L |
probably damaging |
Het |
F13b |
A |
G |
1: 139,429,542 (GRCm39) |
Y20C |
unknown |
Het |
Fam184b |
T |
A |
5: 45,740,230 (GRCm39) |
K319* |
probably null |
Het |
Flrt2 |
T |
A |
12: 95,747,462 (GRCm39) |
L600* |
probably null |
Het |
Gbgt1 |
T |
C |
2: 28,388,453 (GRCm39) |
F46S |
possibly damaging |
Het |
Gli2 |
T |
C |
1: 118,763,759 (GRCm39) |
E1464G |
probably damaging |
Het |
Hdac9 |
A |
G |
12: 34,423,959 (GRCm39) |
V501A |
possibly damaging |
Het |
Heca |
T |
C |
10: 17,791,057 (GRCm39) |
H333R |
probably benign |
Het |
Hirip3 |
G |
A |
7: 126,463,834 (GRCm39) |
|
probably null |
Het |
Igsf8 |
G |
A |
1: 172,146,479 (GRCm39) |
W51* |
probably null |
Het |
Kif21a |
C |
A |
15: 90,824,748 (GRCm39) |
R1342L |
possibly damaging |
Het |
Krt73 |
T |
C |
15: 101,710,510 (GRCm39) |
N75D |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,366,190 (GRCm39) |
Y1292F |
probably benign |
Het |
Macroh2a1 |
A |
C |
13: 56,230,997 (GRCm39) |
C297G |
possibly damaging |
Het |
Mapk14 |
A |
G |
17: 28,963,996 (GRCm39) |
|
probably null |
Het |
Mgat5 |
T |
A |
1: 127,318,495 (GRCm39) |
V330D |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Naip1 |
A |
T |
13: 100,580,682 (GRCm39) |
F188L |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,901,731 (GRCm39) |
S1035P |
probably benign |
Het |
Ndn |
T |
A |
7: 61,998,570 (GRCm39) |
W139R |
probably damaging |
Het |
Nes |
T |
C |
3: 87,879,102 (GRCm39) |
V198A |
possibly damaging |
Het |
Or4c107 |
G |
T |
2: 88,789,216 (GRCm39) |
M135I |
probably damaging |
Het |
Or4c35 |
A |
G |
2: 89,808,250 (GRCm39) |
I43V |
possibly damaging |
Het |
Or51ab3 |
T |
G |
7: 103,201,183 (GRCm39) |
L64V |
probably damaging |
Het |
Or52p1 |
T |
A |
7: 104,267,631 (GRCm39) |
C248* |
probably null |
Het |
Or5b111 |
T |
A |
19: 13,291,178 (GRCm39) |
H157L |
probably benign |
Het |
Or5p72 |
T |
C |
7: 108,022,309 (GRCm39) |
V177A |
possibly damaging |
Het |
Pcf11 |
G |
A |
7: 92,308,985 (GRCm39) |
|
probably benign |
Het |
Pde1a |
TCC |
TC |
2: 79,728,525 (GRCm39) |
|
probably benign |
Het |
Pipox |
T |
G |
11: 77,784,596 (GRCm39) |
Q4P |
probably benign |
Het |
Pla2g4c |
C |
T |
7: 13,077,439 (GRCm39) |
T327I |
probably null |
Het |
Plppr1 |
C |
T |
4: 49,323,384 (GRCm39) |
R225W |
probably damaging |
Het |
Pnpla6 |
T |
A |
8: 3,571,412 (GRCm39) |
V145D |
probably damaging |
Het |
Pnpla7 |
T |
C |
2: 24,942,329 (GRCm39) |
Y83H |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,996,954 (GRCm39) |
L970Q |
probably null |
Het |
Rimklb |
C |
A |
6: 122,433,242 (GRCm39) |
E303* |
probably null |
Het |
Rpl13a |
A |
T |
7: 44,776,242 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
A |
18: 89,029,135 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
G |
A |
8: 111,571,137 (GRCm39) |
R10W |
probably damaging |
Het |
Skint4 |
G |
A |
4: 111,975,430 (GRCm39) |
C130Y |
probably damaging |
Het |
Snap91 |
A |
G |
9: 86,674,070 (GRCm39) |
S593P |
possibly damaging |
Het |
Ssb |
A |
G |
2: 69,699,194 (GRCm39) |
Q209R |
probably benign |
Het |
Stap1 |
A |
T |
5: 86,229,044 (GRCm39) |
I71L |
probably benign |
Het |
Syna |
C |
A |
5: 134,587,209 (GRCm39) |
R580L |
probably damaging |
Het |
Tacc2 |
T |
A |
7: 130,226,591 (GRCm39) |
M1111K |
possibly damaging |
Het |
Tanc2 |
T |
C |
11: 105,758,306 (GRCm39) |
L689P |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,623,686 (GRCm39) |
E1406G |
possibly damaging |
Het |
Tcstv7b |
T |
C |
13: 120,702,362 (GRCm39) |
W53R |
probably damaging |
Het |
Tdrd5 |
A |
C |
1: 156,105,005 (GRCm39) |
C463W |
probably damaging |
Het |
Tia1 |
T |
A |
6: 86,397,382 (GRCm39) |
F118L |
probably damaging |
Het |
Trav3-1 |
A |
T |
14: 52,818,460 (GRCm39) |
T45S |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,761,711 (GRCm39) |
Y235F |
possibly damaging |
Het |
Ube4b |
T |
C |
4: 149,415,827 (GRCm39) |
N44S |
possibly damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,525,255 (GRCm39) |
H304Q |
probably benign |
Het |
Wdr18 |
A |
G |
10: 79,801,069 (GRCm39) |
I161V |
probably benign |
Het |
Zfp112 |
A |
G |
7: 23,826,399 (GRCm39) |
H789R |
probably damaging |
Het |
Zfp873 |
A |
G |
10: 81,895,814 (GRCm39) |
T182A |
possibly damaging |
Het |
Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
probably damaging |
Het |
Zup1 |
A |
T |
10: 33,824,980 (GRCm39) |
D167E |
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 |
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 |
R5153:Tet1
|
UTSW |
10 |
62,714,357 (GRCm39) |
missense |
possibly damaging |
0.85 |
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'- CCACCGGATTCTGTCTTGAATTG -3'
(R):5'- AGTGTACCATCAGCAAAGCC -3'
Sequencing Primer
(F):5'- GAGAATCTGATGGTTCAACCTTCAC -3'
(R):5'- GTGTACCATCAGCAAAGCCAAAGAAG -3'
|
Posted On |
2015-10-08 |