Incidental Mutation 'R5860:Tet1'
ID |
453855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
044072-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5860 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
splice site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 62648399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174121]
[ENSMUST00000174189]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050826
AA Change: V1979A
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: V1979A
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 |
probably benign
Transcript: ENSMUST00000173087
|
SMART Domains |
Protein: ENSMUSP00000133706 Gene: ENSMUSG00000047146
Domain | Start | End | E-Value | Type |
Tet_JBP
|
2 |
138 |
2.64e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173905
|
SMART Domains |
Protein: ENSMUSP00000134571 Gene: ENSMUSG00000047146
Domain | Start | End | E-Value | Type |
Pfam:Tet_JBP
|
1 |
61 |
2.4e-20 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174121
|
SMART Domains |
Protein: ENSMUSP00000134328 Gene: ENSMUSG00000047146
Domain | Start | End | E-Value | Type |
Tet_JBP
|
1 |
352 |
1.49e-83 |
SMART |
low complexity region
|
365 |
377 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174189
AA Change: V2011A
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: V2011A
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: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.8%
|
Validation Efficiency |
97% (75/77) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568A12Rik |
A |
G |
1: 34,524,661 (GRCm39) |
|
noncoding transcript |
Het |
A2ml1 |
T |
C |
6: 128,518,024 (GRCm39) |
T1421A |
probably benign |
Het |
Actr8 |
T |
A |
14: 29,708,242 (GRCm39) |
Y150* |
probably null |
Het |
Adamts1 |
A |
G |
16: 85,595,432 (GRCm39) |
C249R |
probably damaging |
Het |
Adgre1 |
T |
A |
17: 57,752,034 (GRCm39) |
I594N |
probably damaging |
Het |
Atf6 |
A |
T |
1: 170,669,344 (GRCm39) |
L119H |
probably damaging |
Het |
Atf6 |
G |
A |
1: 170,669,345 (GRCm39) |
L119F |
possibly damaging |
Het |
B3gat2 |
G |
A |
1: 23,854,400 (GRCm39) |
W33* |
probably null |
Het |
Bach2 |
A |
G |
4: 32,580,268 (GRCm39) |
D831G |
probably damaging |
Het |
Ccnk |
A |
T |
12: 108,153,466 (GRCm39) |
I76F |
probably damaging |
Het |
Cdyl |
A |
C |
13: 36,042,066 (GRCm39) |
K368T |
possibly damaging |
Het |
Chi3l1 |
A |
G |
1: 134,112,909 (GRCm39) |
T114A |
probably benign |
Het |
Cnppd1 |
A |
G |
1: 75,113,131 (GRCm39) |
V379A |
probably benign |
Het |
Col11a2 |
C |
A |
17: 34,283,159 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
T |
C |
2: 91,854,399 (GRCm39) |
S18G |
probably benign |
Het |
Crybg3 |
A |
C |
16: 59,385,632 (GRCm39) |
D197E |
probably damaging |
Het |
Cryga |
T |
C |
1: 65,142,527 (GRCm39) |
|
probably benign |
Het |
Cthrc1 |
T |
C |
15: 38,950,080 (GRCm39) |
C146R |
probably damaging |
Het |
Cyp2c39 |
A |
T |
19: 39,525,270 (GRCm39) |
D191V |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,421,242 (GRCm39) |
A393T |
probably damaging |
Het |
Dhx30 |
G |
A |
9: 109,913,645 (GRCm39) |
T1126I |
probably damaging |
Het |
Dock2 |
C |
T |
11: 34,206,562 (GRCm39) |
G1345R |
probably damaging |
Het |
Dsc1 |
T |
C |
18: 20,228,081 (GRCm39) |
E425G |
probably damaging |
Het |
Dynlt2b |
A |
G |
16: 32,247,614 (GRCm39) |
Y143C |
probably damaging |
Het |
Exosc8 |
C |
T |
3: 54,642,463 (GRCm39) |
|
probably benign |
Het |
Fat1 |
C |
T |
8: 45,504,166 (GRCm39) |
A4553V |
probably benign |
Het |
Flnb |
T |
A |
14: 7,931,135 (GRCm38) |
L2119Q |
probably damaging |
Het |
Fnbp4 |
T |
A |
2: 90,587,826 (GRCm39) |
D401E |
probably benign |
Het |
Glyctk |
T |
C |
9: 106,032,906 (GRCm39) |
E369G |
possibly damaging |
Het |
Gm14149 |
C |
A |
2: 151,066,225 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
T |
C |
9: 118,387,174 (GRCm39) |
L1432P |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,023,196 (GRCm39) |
S623T |
probably benign |
Het |
Insc |
A |
C |
7: 114,390,383 (GRCm39) |
S85R |
probably damaging |
Het |
Lgr4 |
G |
A |
2: 109,821,496 (GRCm39) |
R126H |
probably damaging |
Het |
M1ap |
T |
A |
6: 82,980,795 (GRCm39) |
L227Q |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,067,187 (GRCm39) |
I569T |
probably damaging |
Het |
Mbd1 |
C |
A |
18: 74,409,768 (GRCm39) |
C339* |
probably null |
Het |
Moxd2 |
T |
A |
6: 40,857,341 (GRCm39) |
Y473F |
probably damaging |
Het |
Mrgpra6 |
T |
C |
7: 46,839,099 (GRCm39) |
H2R |
probably benign |
Het |
Mtus1 |
T |
G |
8: 41,529,303 (GRCm39) |
L742F |
probably damaging |
Het |
Nek11 |
A |
G |
9: 105,270,160 (GRCm39) |
Y21H |
probably benign |
Het |
Notch4 |
G |
T |
17: 34,801,392 (GRCm39) |
C1080F |
probably damaging |
Het |
Nsd3 |
C |
A |
8: 26,156,107 (GRCm39) |
P558Q |
probably damaging |
Het |
Oas1e |
A |
T |
5: 120,930,015 (GRCm39) |
S168T |
probably benign |
Het |
Ogfr |
T |
C |
2: 180,234,285 (GRCm39) |
S119P |
probably damaging |
Het |
Or2y15 |
A |
G |
11: 49,350,563 (GRCm39) |
D19G |
probably damaging |
Het |
Or8g20 |
T |
A |
9: 39,395,767 (GRCm39) |
M261L |
probably benign |
Het |
Pde4dip |
A |
G |
3: 97,631,504 (GRCm39) |
I1135T |
possibly damaging |
Het |
Prex1 |
G |
A |
2: 166,486,604 (GRCm39) |
|
probably benign |
Het |
Ptprf |
T |
C |
4: 118,068,486 (GRCm39) |
|
probably benign |
Het |
Rapsn |
T |
C |
2: 90,875,859 (GRCm39) |
V359A |
probably damaging |
Het |
Ric1 |
A |
G |
19: 29,577,245 (GRCm39) |
S1050G |
possibly damaging |
Het |
Rnft2 |
A |
G |
5: 118,366,868 (GRCm39) |
I290T |
possibly damaging |
Het |
Senp7 |
C |
A |
16: 55,975,722 (GRCm39) |
A476E |
possibly damaging |
Het |
Serpinh1 |
G |
A |
7: 98,995,571 (GRCm39) |
S337L |
probably damaging |
Het |
Slc5a12 |
C |
A |
2: 110,427,969 (GRCm39) |
A8D |
probably benign |
Het |
Smg5 |
T |
A |
3: 88,250,214 (GRCm39) |
C109S |
probably damaging |
Het |
Speer4b |
T |
C |
5: 27,705,226 (GRCm39) |
H49R |
possibly damaging |
Het |
Tas2r109 |
T |
C |
6: 132,957,664 (GRCm39) |
I89V |
probably benign |
Het |
Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
Tpgs1 |
G |
A |
10: 79,505,545 (GRCm39) |
G101D |
probably damaging |
Het |
Trim13 |
T |
G |
14: 61,842,188 (GRCm39) |
S68R |
probably damaging |
Het |
Vwf |
A |
G |
6: 125,620,053 (GRCm39) |
N1577S |
|
Het |
Vwf |
G |
T |
6: 125,656,228 (GRCm39) |
|
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,207,868 (GRCm39) |
|
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
Zftraf1 |
A |
T |
15: 76,532,391 (GRCm39) |
I239N |
probably damaging |
Het |
Zftraf1 |
T |
C |
15: 76,540,615 (GRCm39) |
Y101C |
probably damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably 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 |
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 |
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'- ACGTCGGAGTTGAAATGGGC -3'
(R):5'- ATAGCACCCATTCACGGCTC -3'
Sequencing Primer
(F):5'- ATGACTTTCTTTTTAACAGCACCGG -3'
(R):5'- TCGGAAGGAGCTTCATGC -3'
|
Posted On |
2017-02-10 |