Incidental Mutation 'R7255:Tet1'
| ID |
564211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet1
|
| Ensembl Gene |
ENSMUSG00000047146 |
| Gene Name |
tet methylcytosine dioxygenase 1 |
| Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
| MMRRC Submission |
045316-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7255 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62658415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1477
(M1477K)
|
| 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: M1477K
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: M1477K
| 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: ENSMUST00000174189
AA Change: M1477K
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: M1477K
| 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 |
|
| Meta Mutation Damage Score |
0.2107 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (66/68) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
A |
G |
19: 20,692,092 (GRCm39) |
S234P |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,159,999 (GRCm39) |
H650R |
probably damaging |
Het |
| Asic1 |
A |
G |
15: 99,595,338 (GRCm39) |
D355G |
probably damaging |
Het |
| Atp8b1 |
T |
A |
18: 64,689,939 (GRCm39) |
S598C |
probably damaging |
Het |
| Bcat1 |
C |
A |
6: 144,978,511 (GRCm39) |
E237* |
probably null |
Het |
| Btbd16 |
A |
T |
7: 130,387,722 (GRCm39) |
I114F |
probably benign |
Het |
| Casp2 |
A |
G |
6: 42,245,841 (GRCm39) |
D166G |
probably damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cpsf1 |
G |
A |
15: 76,481,743 (GRCm39) |
T1099M |
probably damaging |
Het |
| Crisp4 |
C |
A |
1: 18,200,455 (GRCm39) |
A116S |
probably damaging |
Het |
| Cyb5r3 |
A |
G |
15: 83,044,366 (GRCm39) |
I168T |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,107,508 (GRCm39) |
D1407N |
probably benign |
Het |
| Dnajc8 |
A |
G |
4: 132,278,884 (GRCm39) |
K201R |
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,520,816 (GRCm39) |
|
probably null |
Het |
| Dop1b |
C |
A |
16: 93,567,034 (GRCm39) |
H1272N |
probably damaging |
Het |
| Dsc1 |
C |
T |
18: 20,230,330 (GRCm39) |
R325Q |
probably benign |
Het |
| Enpp1 |
A |
T |
10: 24,521,213 (GRCm39) |
I838K |
possibly damaging |
Het |
| Fcna |
T |
G |
2: 25,516,040 (GRCm39) |
D159A |
probably damaging |
Het |
| Flnc |
G |
T |
6: 29,445,765 (GRCm39) |
G840C |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,517,216 (GRCm39) |
A1024T |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,212,514 (GRCm39) |
K207R |
probably null |
Het |
| Gbp2b |
T |
A |
3: 142,313,878 (GRCm39) |
L386Q |
probably damaging |
Het |
| Gm8297 |
T |
A |
14: 16,165,868 (GRCm39) |
N48K |
probably damaging |
Het |
| Gm9639 |
G |
A |
10: 77,630,372 (GRCm39) |
P180L |
unknown |
Het |
| Inpp5a |
A |
G |
7: 139,091,364 (GRCm39) |
N116S |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,313,726 (GRCm39) |
E984G |
probably benign |
Het |
| Klra4 |
A |
G |
6: 130,036,605 (GRCm39) |
F145L |
probably damaging |
Het |
| Lag3 |
A |
G |
6: 124,887,198 (GRCm39) |
L123P |
probably benign |
Het |
| Lyz3 |
T |
C |
10: 117,070,327 (GRCm39) |
H150R |
probably benign |
Het |
| Med7 |
T |
A |
11: 46,331,822 (GRCm39) |
M139K |
probably damaging |
Het |
| Mfsd2a |
A |
C |
4: 122,845,814 (GRCm39) |
L153R |
possibly damaging |
Het |
| Mup9 |
A |
G |
4: 60,377,336 (GRCm39) |
V71A |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,549,169 (GRCm39) |
Q927L |
unknown |
Het |
| Myo9b |
T |
C |
8: 71,743,535 (GRCm39) |
Y199H |
probably damaging |
Het |
| Nefm |
A |
G |
14: 68,353,449 (GRCm39) |
F406L |
probably benign |
Het |
| Or10ag2 |
T |
A |
2: 87,249,286 (GRCm39) |
L296Q |
probably damaging |
Het |
| Or10ak11 |
A |
T |
4: 118,687,149 (GRCm39) |
F162I |
probably benign |
Het |
| Pamr1 |
T |
C |
2: 102,441,929 (GRCm39) |
F173L |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,720,132 (GRCm39) |
D1205E |
probably benign |
Het |
| Plxna2 |
T |
G |
1: 194,434,411 (GRCm39) |
F646V |
probably benign |
Het |
| Pnrc1 |
C |
T |
4: 33,248,045 (GRCm39) |
G118D |
probably benign |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,311 (GRCm39) |
F412S |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,777,398 (GRCm39) |
V192E |
probably damaging |
Het |
| Psg19 |
A |
G |
7: 18,527,973 (GRCm39) |
Y257H |
probably benign |
Het |
| Rfx7 |
T |
G |
9: 72,527,110 (GRCm39) |
S1433R |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Sanbr |
G |
A |
11: 23,570,465 (GRCm39) |
P145L |
probably benign |
Het |
| Sbspon |
G |
T |
1: 15,954,021 (GRCm39) |
C86* |
probably null |
Het |
| Sdhb |
A |
G |
4: 140,704,729 (GRCm39) |
E230G |
possibly damaging |
Het |
| Sema6b |
T |
C |
17: 56,432,336 (GRCm39) |
T581A |
probably benign |
Het |
| Shkbp1 |
G |
T |
7: 27,042,173 (GRCm39) |
T594K |
possibly damaging |
Het |
| Shpk |
A |
G |
11: 73,090,486 (GRCm39) |
S48G |
probably benign |
Het |
| Slc1a3 |
A |
G |
15: 8,672,483 (GRCm39) |
V332A |
possibly damaging |
Het |
| Slc25a25 |
T |
C |
2: 32,311,384 (GRCm39) |
E135G |
possibly damaging |
Het |
| Slc5a8 |
A |
T |
10: 88,745,493 (GRCm39) |
D367V |
probably damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,515,051 (GRCm39) |
T649A |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spats1 |
T |
A |
17: 45,765,131 (GRCm39) |
D163V |
probably damaging |
Het |
| Ssh2 |
T |
A |
11: 77,316,419 (GRCm39) |
M304K |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,929,232 (GRCm39) |
D166E |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,283,446 (GRCm39) |
S1540P |
probably damaging |
Het |
| Tcf7l1 |
A |
T |
6: 72,604,330 (GRCm39) |
|
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,801,881 (GRCm39) |
F395S |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,795,764 (GRCm39) |
L3847P |
probably damaging |
Het |
| Tsks |
C |
T |
7: 44,602,112 (GRCm39) |
S276L |
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,185,187 (GRCm39) |
E1519G |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,631,703 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,696,239 (GRCm39) |
V2768A |
|
Het |
| Wdr26 |
A |
C |
1: 181,008,889 (GRCm39) |
I627R |
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,245,749 (GRCm39) |
S100T |
probably benign |
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 |
|
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 |
|
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'- GCAGATGTAGCTCCAACTCATG -3'
(R):5'- TCTGGCTCCTGATGTATAAAGCTTG -3'
Sequencing Primer
(F):5'- TAGAGTCCTGCTACTCACAGGCTAG -3'
(R):5'- GCTCCTGATGTATAAAGCTTGTATTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation