Incidental Mutation 'R5763:Tet1'
ID |
446130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
043364-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5763 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62675847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 743
(N743I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050826
AA Change: N743I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: N743I
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: N743I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: N743I
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 |
0.1743 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
97% (70/72) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
A |
G |
1: 130,670,768 (GRCm39) |
H330R |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Actl6b |
T |
A |
5: 137,565,063 (GRCm39) |
L314Q |
possibly damaging |
Het |
Adam22 |
A |
T |
5: 8,184,544 (GRCm39) |
C483S |
probably damaging |
Het |
Adamts7 |
T |
A |
9: 90,070,462 (GRCm39) |
L601H |
probably damaging |
Het |
Agl |
A |
T |
3: 116,547,009 (GRCm39) |
D1280E |
probably damaging |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Astn2 |
T |
A |
4: 65,647,568 (GRCm39) |
M757L |
probably benign |
Het |
Atr |
A |
G |
9: 95,827,176 (GRCm39) |
M2407V |
probably benign |
Het |
Brca2 |
T |
C |
5: 150,471,471 (GRCm39) |
F2283L |
possibly damaging |
Het |
Brwd1 |
A |
T |
16: 95,835,043 (GRCm39) |
Y940* |
probably null |
Het |
Camk2g |
A |
T |
14: 20,789,415 (GRCm39) |
N218K |
probably damaging |
Het |
Ces2a |
C |
T |
8: 105,462,756 (GRCm39) |
P115L |
probably benign |
Het |
Col11a1 |
T |
C |
3: 113,888,245 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
T |
A |
6: 4,515,682 (GRCm39) |
D150E |
unknown |
Het |
Crybg3 |
A |
G |
16: 59,374,973 (GRCm39) |
S2094P |
possibly damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,414,298 (GRCm39) |
N916D |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,673 (GRCm39) |
F593L |
probably damaging |
Het |
Dhx16 |
G |
A |
17: 36,192,580 (GRCm39) |
E171K |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,311,298 (GRCm39) |
I1759T |
probably damaging |
Het |
Dnah9 |
C |
A |
11: 65,846,065 (GRCm39) |
S2991I |
probably damaging |
Het |
Entpd7 |
G |
T |
19: 43,692,705 (GRCm39) |
V87L |
probably damaging |
Het |
Fam221a |
T |
G |
6: 49,355,518 (GRCm39) |
L207V |
probably damaging |
Het |
Foxm1 |
T |
A |
6: 128,343,071 (GRCm39) |
I135N |
probably benign |
Het |
Gabpa |
C |
A |
16: 84,657,297 (GRCm39) |
Q391K |
possibly damaging |
Het |
Gipr |
T |
A |
7: 18,897,475 (GRCm39) |
H111L |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,270,501 (GRCm39) |
D737G |
probably damaging |
Het |
Herc6 |
T |
A |
6: 57,639,872 (GRCm39) |
N995K |
probably damaging |
Het |
Ldha |
G |
A |
7: 46,497,213 (GRCm39) |
|
probably benign |
Het |
Lrrc37 |
G |
A |
11: 103,504,469 (GRCm39) |
P324S |
probably damaging |
Het |
Masp1 |
T |
C |
16: 23,314,997 (GRCm39) |
E88G |
probably damaging |
Het |
Mical2 |
G |
A |
7: 111,973,861 (GRCm39) |
|
probably null |
Het |
Mill1 |
T |
A |
7: 17,979,587 (GRCm39) |
V18E |
probably benign |
Het |
Mrgpra3 |
A |
T |
7: 47,239,355 (GRCm39) |
C190* |
probably null |
Het |
Nog |
C |
T |
11: 89,192,291 (GRCm39) |
V186M |
probably damaging |
Het |
Nrxn2 |
T |
C |
19: 6,581,369 (GRCm39) |
F392L |
probably benign |
Het |
Or11h7 |
T |
C |
14: 50,891,525 (GRCm39) |
I277T |
possibly damaging |
Het |
Or12j3 |
T |
A |
7: 139,953,568 (GRCm39) |
|
probably null |
Het |
Or1e33 |
T |
A |
11: 73,738,693 (GRCm39) |
Q86L |
probably benign |
Het |
Or4a79 |
T |
A |
2: 89,552,372 (GRCm39) |
M28L |
probably benign |
Het |
Or7c74 |
T |
C |
2: 37,161,025 (GRCm39) |
|
noncoding transcript |
Het |
Phyhd1 |
T |
A |
2: 30,169,983 (GRCm39) |
D158E |
probably damaging |
Het |
Pik3r4 |
G |
T |
9: 105,546,974 (GRCm39) |
K917N |
probably benign |
Het |
Pnma1 |
A |
G |
12: 84,194,124 (GRCm39) |
V193A |
possibly damaging |
Het |
Podxl2 |
T |
C |
6: 88,826,805 (GRCm39) |
E167G |
probably damaging |
Het |
Prss50 |
A |
T |
9: 110,691,517 (GRCm39) |
K82* |
probably null |
Het |
Qsox1 |
A |
G |
1: 155,655,625 (GRCm39) |
S513P |
probably benign |
Het |
Rheb |
A |
G |
5: 25,012,785 (GRCm39) |
V98A |
probably benign |
Het |
Rhoj |
A |
G |
12: 75,438,606 (GRCm39) |
I131V |
probably benign |
Het |
Rsph4a |
A |
T |
10: 33,781,684 (GRCm39) |
D178V |
probably damaging |
Het |
Setd2 |
T |
G |
9: 110,385,343 (GRCm39) |
|
probably null |
Het |
Siglecf |
A |
T |
7: 43,005,744 (GRCm39) |
K434* |
probably null |
Het |
Slc14a1 |
T |
C |
18: 78,159,629 (GRCm39) |
Y88C |
probably benign |
Het |
Snx15 |
T |
C |
19: 6,172,140 (GRCm39) |
E89G |
probably damaging |
Het |
Son |
C |
T |
16: 91,454,378 (GRCm39) |
R1042C |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Suz12 |
C |
A |
11: 79,916,134 (GRCm39) |
Y457* |
probably null |
Het |
Tmc6 |
A |
G |
11: 117,660,259 (GRCm39) |
F660L |
possibly damaging |
Het |
Tnpo1 |
A |
C |
13: 98,996,445 (GRCm39) |
I452S |
possibly damaging |
Het |
Trav4-3 |
G |
T |
14: 53,836,844 (GRCm39) |
G103V |
probably damaging |
Het |
Ubap2 |
T |
C |
4: 41,195,809 (GRCm39) |
K994E |
probably damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,363,724 (GRCm39) |
T731A |
possibly damaging |
Het |
Vmn2r52 |
T |
A |
7: 9,905,231 (GRCm39) |
I203L |
probably benign |
Het |
Zfp663 |
G |
T |
2: 165,200,355 (GRCm39) |
S75* |
probably null |
Het |
Zik1 |
G |
T |
7: 10,226,293 (GRCm39) |
H25N |
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 |
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'- CCCTTGAGATGATCACACTCCC -3'
(R):5'- GTTGGATTTGATCACACATCCCC -3'
Sequencing Primer
(F):5'- CCCAACGCCTTGCTAAAT -3'
(R):5'- CATCCCCTTGAAAATGTAAGGAAG -3'
|
Posted On |
2016-11-21 |