Incidental Mutation 'R0371:Tet1'
ID |
30480 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
038577-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0371 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62714178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 539
(D539G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
[ENSMUST00000218438]
[ENSMUST00000218782]
[ENSMUST00000227494]
[ENSMUST00000228901]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050826
AA Change: D539G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: D539G
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 damaging
Transcript: ENSMUST00000174189
AA Change: D539G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: D539G
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218438
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218782
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227494
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228901
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.6%
|
Validation Efficiency |
99% (67/68) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy9 |
G |
A |
16: 4,105,911 (GRCm39) |
R1068C |
probably benign |
Het |
Afmid |
C |
T |
11: 117,725,966 (GRCm39) |
|
probably benign |
Het |
Aqr |
A |
G |
2: 113,988,085 (GRCm39) |
V159A |
possibly damaging |
Het |
Atp6v0d2 |
G |
C |
4: 19,880,033 (GRCm39) |
T288R |
possibly damaging |
Het |
Btnl1 |
T |
C |
17: 34,600,031 (GRCm39) |
V178A |
probably damaging |
Het |
Ccdc110 |
T |
A |
8: 46,395,843 (GRCm39) |
M578K |
possibly damaging |
Het |
Ccdc38 |
G |
T |
10: 93,398,674 (GRCm39) |
E51* |
probably null |
Het |
Cep290 |
T |
A |
10: 100,354,426 (GRCm39) |
|
probably benign |
Het |
Cilp2 |
T |
C |
8: 70,334,256 (GRCm39) |
E914G |
probably damaging |
Het |
Col6a2 |
T |
C |
10: 76,450,307 (GRCm39) |
N208S |
probably benign |
Het |
Ctrb1 |
T |
A |
8: 112,413,783 (GRCm39) |
I194F |
probably benign |
Het |
Cyp4a12a |
C |
G |
4: 115,183,880 (GRCm39) |
R229G |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,207,339 (GRCm39) |
V337M |
probably damaging |
Het |
Dcbld2 |
A |
G |
16: 58,271,186 (GRCm39) |
N321S |
probably benign |
Het |
Enpep |
C |
T |
3: 129,077,516 (GRCm39) |
|
probably null |
Het |
Fat1 |
T |
C |
8: 45,404,929 (GRCm39) |
L560P |
probably damaging |
Het |
Fdxr |
T |
C |
11: 115,166,915 (GRCm39) |
H58R |
possibly damaging |
Het |
Filip1 |
G |
T |
9: 79,767,373 (GRCm39) |
P147T |
probably damaging |
Het |
Fras1 |
G |
A |
5: 96,703,190 (GRCm39) |
E318K |
possibly damaging |
Het |
Grk2 |
T |
C |
19: 4,341,614 (GRCm39) |
|
probably null |
Het |
Gvin-ps6 |
A |
T |
7: 106,021,986 (GRCm39) |
C339S |
unknown |
Het |
Havcr1 |
T |
C |
11: 46,643,416 (GRCm39) |
I112T |
possibly damaging |
Het |
Hjurp |
G |
A |
1: 88,205,090 (GRCm39) |
|
probably benign |
Het |
Ildr2 |
G |
A |
1: 166,131,133 (GRCm39) |
V330I |
probably damaging |
Het |
Ino80d |
T |
C |
1: 63,097,115 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
A |
G |
6: 90,647,385 (GRCm39) |
|
probably benign |
Het |
Irf2bpl |
C |
T |
12: 86,928,417 (GRCm39) |
W752* |
probably null |
Het |
Kdr |
T |
A |
5: 76,102,494 (GRCm39) |
H1211L |
probably benign |
Het |
Klri2 |
A |
G |
6: 129,709,106 (GRCm39) |
*249R |
probably null |
Het |
Ktn1 |
A |
T |
14: 47,961,460 (GRCm39) |
K1054* |
probably null |
Het |
Lactb2 |
A |
G |
1: 13,720,984 (GRCm39) |
S83P |
possibly damaging |
Het |
Lrrc3b |
A |
T |
14: 15,358,560 (GRCm38) |
C15* |
probably null |
Het |
Mrs2 |
T |
C |
13: 25,177,078 (GRCm39) |
I430V |
probably benign |
Het |
Myo3b |
C |
T |
2: 70,083,304 (GRCm39) |
|
probably benign |
Het |
Nbas |
C |
T |
12: 13,381,096 (GRCm39) |
T696I |
probably damaging |
Het |
Nsun6 |
T |
C |
2: 15,034,898 (GRCm39) |
D240G |
probably damaging |
Het |
Nup107 |
T |
C |
10: 117,599,674 (GRCm39) |
E615G |
probably damaging |
Het |
Or2a25 |
A |
T |
6: 42,888,872 (GRCm39) |
R138S |
probably benign |
Het |
Or3a1d |
T |
A |
11: 74,237,760 (GRCm39) |
I217F |
probably damaging |
Het |
Or4k77 |
A |
T |
2: 111,199,498 (GRCm39) |
I174L |
probably benign |
Het |
Or5ac23 |
A |
G |
16: 59,149,585 (GRCm39) |
C96R |
possibly damaging |
Het |
Pabpc1l |
G |
A |
2: 163,877,192 (GRCm39) |
V256M |
probably benign |
Het |
Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
Sik1 |
T |
C |
17: 32,067,958 (GRCm39) |
D409G |
probably benign |
Het |
Slc22a22 |
A |
T |
15: 57,113,131 (GRCm39) |
D369E |
possibly damaging |
Het |
Smg1 |
T |
A |
7: 117,767,523 (GRCm39) |
|
probably benign |
Het |
Snap29 |
C |
A |
16: 17,224,067 (GRCm39) |
D27E |
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Sorcs3 |
A |
G |
19: 48,592,333 (GRCm39) |
I333V |
probably benign |
Het |
Spag7 |
A |
G |
11: 70,555,622 (GRCm39) |
M105T |
probably damaging |
Het |
Srgap3 |
A |
T |
6: 112,748,432 (GRCm39) |
S407T |
probably damaging |
Het |
Supt6 |
T |
C |
11: 78,113,983 (GRCm39) |
N854S |
probably benign |
Het |
Syne2 |
T |
C |
12: 75,980,619 (GRCm39) |
S1460P |
probably damaging |
Het |
Taok3 |
C |
T |
5: 117,344,752 (GRCm39) |
Q160* |
probably null |
Het |
Tchhl1 |
C |
A |
3: 93,376,884 (GRCm39) |
A27E |
probably damaging |
Het |
Tut1 |
T |
C |
19: 8,940,137 (GRCm39) |
F374L |
probably damaging |
Het |
Unc5c |
C |
T |
3: 141,533,283 (GRCm39) |
P770S |
probably benign |
Het |
Vmn2r101 |
T |
A |
17: 19,810,394 (GRCm39) |
N393K |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,477,556 (GRCm39) |
H285L |
probably benign |
Het |
Wdr62 |
G |
A |
7: 29,941,583 (GRCm39) |
S700L |
possibly damaging |
Het |
Wscd1 |
A |
G |
11: 71,679,549 (GRCm39) |
D474G |
probably damaging |
Het |
Zcchc7 |
A |
G |
4: 44,762,190 (GRCm39) |
N106S |
probably damaging |
Het |
Zfp345 |
G |
T |
2: 150,313,983 (GRCm39) |
T518N |
possibly damaging |
Het |
Zfp648 |
A |
T |
1: 154,080,413 (GRCm39) |
S191C |
possibly damaging |
Het |
Zkscan8 |
C |
T |
13: 21,710,844 (GRCm39) |
E89K |
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 |
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 |
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'- ACTGATGCTGCGCCAAACACAG -3'
(R):5'- ATAGCTGCAAACGGTACGCGAG -3'
Sequencing Primer
(F):5'- TCACCTGTGCCTGTGAGG -3'
(R):5'- ACGGTACGCGAGCTGAG -3'
|
Posted On |
2013-04-24 |