Incidental Mutation 'R0166:Tet1'
ID |
24182 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
038442-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0166 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
10 |
Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62676058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 673
(T673S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050826
AA Change: T673S
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: T673S
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 benign
Transcript: ENSMUST00000174189
AA Change: T673S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: T673S
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 91.4%
|
Validation Efficiency |
91% (49/54) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,903,468 (GRCm39) |
F1040L |
probably damaging |
Het |
Adamts7 |
A |
G |
9: 90,075,745 (GRCm39) |
N1201S |
probably benign |
Het |
Ahnak |
C |
T |
19: 8,983,089 (GRCm39) |
P1458S |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,187,707 (GRCm39) |
V1707A |
probably benign |
Het |
Akr1c21 |
T |
A |
13: 4,631,263 (GRCm39) |
V266E |
probably damaging |
Het |
Arap2 |
A |
C |
5: 62,833,361 (GRCm39) |
C894G |
probably damaging |
Het |
Atp2a2 |
T |
C |
5: 122,604,901 (GRCm39) |
D426G |
possibly damaging |
Het |
Azi2 |
A |
T |
9: 117,884,909 (GRCm39) |
Q132L |
possibly damaging |
Het |
Carmil1 |
C |
T |
13: 24,283,032 (GRCm39) |
D91N |
probably damaging |
Het |
Cnot7 |
A |
T |
8: 40,960,494 (GRCm39) |
|
probably null |
Het |
Cntnap5b |
A |
G |
1: 100,202,086 (GRCm39) |
E311G |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,283,036 (GRCm39) |
V640A |
probably benign |
Het |
Cst7 |
T |
C |
2: 150,417,647 (GRCm39) |
S31P |
probably benign |
Het |
Cyp7b1 |
T |
A |
3: 18,151,530 (GRCm39) |
I228L |
probably benign |
Het |
Ddx28 |
G |
A |
8: 106,736,921 (GRCm39) |
T379I |
probably benign |
Het |
Drd1 |
T |
A |
13: 54,207,600 (GRCm39) |
I205F |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,896,115 (GRCm38) |
V837D |
probably damaging |
Het |
Fsd1l |
A |
G |
4: 53,647,664 (GRCm39) |
|
probably null |
Het |
Fubp1 |
T |
A |
3: 151,925,841 (GRCm39) |
Y264* |
probably null |
Het |
Gbp5 |
T |
A |
3: 142,212,680 (GRCm39) |
|
probably null |
Het |
Gm7094 |
A |
G |
1: 21,342,958 (GRCm39) |
|
noncoding transcript |
Het |
Gpr55 |
A |
G |
1: 85,868,858 (GRCm39) |
V241A |
probably benign |
Het |
Impa1 |
C |
T |
3: 10,394,020 (GRCm39) |
A16T |
probably damaging |
Het |
Llgl2 |
T |
C |
11: 115,735,680 (GRCm39) |
L92P |
probably damaging |
Het |
Ltbp2 |
T |
A |
12: 84,833,132 (GRCm39) |
Q1472L |
probably benign |
Het |
Lyplal1 |
A |
T |
1: 185,820,943 (GRCm39) |
M168K |
probably benign |
Het |
Macc1 |
A |
T |
12: 119,410,815 (GRCm39) |
R528* |
probably null |
Het |
Mdm1 |
T |
A |
10: 118,002,585 (GRCm39) |
D635E |
probably damaging |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mrpl23 |
C |
T |
7: 142,088,851 (GRCm39) |
R69W |
probably damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nr0b2 |
A |
G |
4: 133,281,049 (GRCm39) |
Q105R |
probably damaging |
Het |
Or8b53 |
T |
A |
9: 38,667,484 (GRCm39) |
S167T |
probably benign |
Het |
Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
Pcdhb14 |
A |
T |
18: 37,581,542 (GRCm39) |
|
probably null |
Het |
Plxna1 |
A |
G |
6: 89,310,001 (GRCm39) |
W1055R |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,381,081 (GRCm39) |
H314L |
probably benign |
Het |
Prdm1 |
C |
T |
10: 44,316,087 (GRCm39) |
R716Q |
probably damaging |
Het |
Proser1 |
C |
A |
3: 53,388,038 (GRCm39) |
Q909K |
possibly damaging |
Het |
Pus10 |
T |
A |
11: 23,617,358 (GRCm39) |
C24S |
probably damaging |
Het |
Rpl27 |
T |
A |
11: 101,336,146 (GRCm39) |
F69I |
possibly damaging |
Het |
Sctr |
A |
T |
1: 119,983,124 (GRCm39) |
I325F |
probably damaging |
Het |
Slc49a4 |
G |
A |
16: 35,539,684 (GRCm39) |
T379I |
possibly damaging |
Het |
Slc5a3 |
G |
A |
16: 91,874,581 (GRCm39) |
V213I |
possibly damaging |
Het |
Spib |
G |
T |
7: 44,179,324 (GRCm39) |
D28E |
probably damaging |
Het |
Spic |
T |
C |
10: 88,511,579 (GRCm39) |
S226G |
possibly damaging |
Het |
Tph1 |
A |
G |
7: 46,297,020 (GRCm39) |
F392L |
probably damaging |
Het |
Ttc28 |
T |
C |
5: 111,373,500 (GRCm39) |
S979P |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,122,812 (GRCm39) |
L2110P |
probably damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Zfp467 |
T |
C |
6: 48,415,615 (GRCm39) |
T346A |
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 |
|
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 |
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'- TGCAGTTTGAGGGATCAGTCAGC -3'
(R):5'- GCATCTCCTTGTAGACATTCAGCGG -3'
Sequencing Primer
(F):5'- GAGGAATTATTTCCCAACGCCTTG -3'
(R):5'- AGACATTCAGCGGGTGGTG -3'
|
Posted On |
2013-04-16 |