Incidental Mutation 'R1725:Tet1'
ID |
198086 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
039757-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1725 (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 62650256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 22
(S22P)
|
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: S1619P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: S1619P
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 |
unknown
Transcript: ENSMUST00000173087
AA Change: S21P
|
SMART Domains |
Protein: ENSMUSP00000133706 Gene: ENSMUSG00000047146 AA Change: S21P
Domain | Start | End | E-Value | Type |
Tet_JBP
|
2 |
138 |
2.64e-3 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000173905
AA Change: S22P
|
SMART Domains |
Protein: ENSMUSP00000134571 Gene: ENSMUSG00000047146 AA Change: S22P
Domain | Start | End | E-Value | Type |
Pfam:Tet_JBP
|
1 |
61 |
2.4e-20 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174121
AA Change: S22P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134328 Gene: ENSMUSG00000047146 AA Change: S22P
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: S1651P
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: S1651P
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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
A |
T |
16: 88,424,163 (GRCm39) |
F109L |
probably benign |
Het |
Aacs |
T |
C |
5: 125,559,999 (GRCm39) |
|
probably null |
Het |
Abcc6 |
C |
A |
7: 45,641,781 (GRCm39) |
D866Y |
possibly damaging |
Het |
Acox3 |
T |
C |
5: 35,749,516 (GRCm39) |
Y214H |
probably benign |
Het |
Acss2 |
A |
G |
2: 155,398,764 (GRCm39) |
T404A |
possibly damaging |
Het |
Adgrb3 |
T |
A |
1: 25,865,381 (GRCm39) |
E154V |
probably damaging |
Het |
Akap12 |
G |
A |
10: 4,303,942 (GRCm39) |
V251M |
probably damaging |
Het |
Ambp |
A |
T |
4: 63,062,513 (GRCm39) |
M242K |
possibly damaging |
Het |
Angptl7 |
T |
G |
4: 148,584,469 (GRCm39) |
Y93S |
probably damaging |
Het |
Apof |
A |
G |
10: 128,105,680 (GRCm39) |
|
probably benign |
Het |
Arv1 |
T |
C |
8: 125,455,191 (GRCm39) |
F135L |
probably damaging |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Cacna1s |
C |
T |
1: 136,026,361 (GRCm39) |
T1116I |
probably damaging |
Het |
Ccdc91 |
A |
G |
6: 147,493,541 (GRCm39) |
E311G |
unknown |
Het |
Cenpf |
T |
C |
1: 189,412,676 (GRCm39) |
T196A |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,470,030 (GRCm39) |
S527T |
probably benign |
Het |
Csmd3 |
A |
C |
15: 47,460,203 (GRCm39) |
N3529K |
probably damaging |
Het |
Csnk2a1 |
T |
C |
2: 152,099,892 (GRCm39) |
V116A |
probably damaging |
Het |
Dhx36 |
T |
G |
3: 62,414,360 (GRCm39) |
M1L |
probably benign |
Het |
Diaph3 |
A |
G |
14: 87,203,759 (GRCm39) |
|
probably null |
Het |
Ephb2 |
G |
A |
4: 136,387,089 (GRCm39) |
Q714* |
probably null |
Het |
Eprs1 |
T |
A |
1: 185,139,189 (GRCm39) |
L858Q |
probably damaging |
Het |
Espl1 |
G |
T |
15: 102,221,656 (GRCm39) |
V982L |
probably benign |
Het |
Eya2 |
A |
G |
2: 165,566,605 (GRCm39) |
T219A |
probably benign |
Het |
Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
Fbxl18 |
C |
T |
5: 142,872,458 (GRCm39) |
R259H |
probably damaging |
Het |
Gcc2 |
G |
A |
10: 58,139,937 (GRCm39) |
R1629H |
possibly damaging |
Het |
Gje1 |
G |
A |
10: 14,592,168 (GRCm39) |
R205* |
probably null |
Het |
Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,743,115 (GRCm39) |
|
probably benign |
Het |
Krt6a |
A |
T |
15: 101,600,992 (GRCm39) |
M268K |
probably damaging |
Het |
Loxhd1 |
T |
A |
18: 77,380,937 (GRCm39) |
S85T |
probably benign |
Het |
Loxl3 |
G |
A |
6: 83,012,574 (GRCm39) |
V38I |
probably benign |
Het |
Mill2 |
A |
G |
7: 18,573,993 (GRCm39) |
D26G |
probably benign |
Het |
Muc15 |
T |
C |
2: 110,561,591 (GRCm39) |
L9S |
probably damaging |
Het |
Nat8f4 |
G |
A |
6: 85,878,080 (GRCm39) |
R148* |
probably null |
Het |
Nav3 |
A |
T |
10: 109,659,451 (GRCm39) |
V722E |
probably damaging |
Het |
Nfkb1 |
C |
A |
3: 135,373,519 (GRCm39) |
G10W |
probably damaging |
Het |
Or10j5 |
C |
T |
1: 172,784,908 (GRCm39) |
P182L |
possibly damaging |
Het |
Or2ag1 |
A |
T |
7: 106,313,265 (GRCm39) |
F208I |
probably benign |
Het |
Or2t1 |
T |
G |
14: 14,328,977 (GRCm38) |
Y289D |
probably damaging |
Het |
Or5b120 |
T |
C |
19: 13,479,883 (GRCm39) |
Y59H |
probably damaging |
Het |
Pcdhb22 |
T |
A |
18: 37,653,241 (GRCm39) |
C313S |
probably benign |
Het |
Plin4 |
A |
G |
17: 56,413,473 (GRCm39) |
L384P |
probably damaging |
Het |
Pm20d1 |
T |
C |
1: 131,743,796 (GRCm39) |
I487T |
probably damaging |
Het |
Prex1 |
A |
T |
2: 166,443,656 (GRCm39) |
D334E |
probably damaging |
Het |
Psg28 |
A |
T |
7: 18,161,936 (GRCm39) |
I189N |
possibly damaging |
Het |
Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
Rae1 |
A |
G |
2: 172,848,754 (GRCm39) |
I123M |
possibly damaging |
Het |
Sh3glb2 |
C |
A |
2: 30,240,679 (GRCm39) |
E129* |
probably null |
Het |
Simc1 |
T |
C |
13: 54,674,219 (GRCm39) |
S856P |
probably damaging |
Het |
Slc19a1 |
T |
A |
10: 76,877,672 (GRCm39) |
M69K |
probably benign |
Het |
Slc30a8 |
A |
T |
15: 52,197,000 (GRCm39) |
I304F |
possibly damaging |
Het |
Snx1 |
A |
G |
9: 66,005,611 (GRCm39) |
|
probably null |
Het |
Spmip5 |
T |
G |
19: 58,781,194 (GRCm39) |
K10T |
probably benign |
Het |
Stx18 |
G |
A |
5: 38,292,599 (GRCm39) |
V234M |
probably damaging |
Het |
Sulf2 |
T |
C |
2: 165,923,281 (GRCm39) |
T615A |
probably damaging |
Het |
Sult3a2 |
T |
A |
10: 33,655,705 (GRCm39) |
K91N |
probably benign |
Het |
Tmc3 |
T |
C |
7: 83,253,940 (GRCm39) |
V362A |
probably damaging |
Het |
Trim16 |
A |
C |
11: 62,711,331 (GRCm39) |
M1L |
possibly damaging |
Het |
Trp53bp1 |
C |
T |
2: 121,082,481 (GRCm39) |
V10I |
possibly damaging |
Het |
Ttc12 |
T |
G |
9: 49,369,415 (GRCm39) |
D235A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,692,727 (GRCm39) |
R452G |
possibly damaging |
Het |
Ugt2b38 |
A |
T |
5: 87,559,730 (GRCm39) |
H387Q |
probably damaging |
Het |
Usp48 |
T |
A |
4: 137,360,733 (GRCm39) |
L20* |
probably null |
Het |
Utrn |
T |
C |
10: 12,539,263 (GRCm39) |
D1918G |
probably damaging |
Het |
Vmn1r158 |
A |
G |
7: 22,490,072 (GRCm39) |
S46P |
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,149,397 (GRCm39) |
W262R |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,869,830 (GRCm39) |
S1917T |
possibly damaging |
Het |
Vsx1 |
T |
C |
2: 150,528,120 (GRCm39) |
N158D |
probably benign |
Het |
Vwf |
G |
A |
6: 125,623,245 (GRCm39) |
V1781I |
probably benign |
Het |
Wrap73 |
T |
C |
4: 154,233,209 (GRCm39) |
Y128H |
possibly damaging |
Het |
Zfp472 |
A |
G |
17: 33,196,311 (GRCm39) |
K129E |
possibly damaging |
Het |
Zscan18 |
A |
T |
7: 12,504,784 (GRCm39) |
L611Q |
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 |
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 |
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'- TGCTGGGATTAAAGCCTTGTCCAAC -3'
(R):5'- GCTGTACACAGACCCATATGCAGAC -3'
Sequencing Primer
(F):5'- tcctatgctcaagttccacc -3'
(R):5'- GACCCATATGCAGACAAAACC -3'
|
Posted On |
2014-05-23 |