Incidental Mutation 'R7323:Tet1'
ID |
568295 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7323 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
A to G
at 62715818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
[ENSMUST00000218438]
[ENSMUST00000218782]
[ENSMUST00000227494]
[ENSMUST00000228901]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050826
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146
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
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146
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 |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (73/73) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930524J08Rik |
C |
A |
5: 100,126,945 (GRCm39) |
A9E |
unknown |
Het |
6030452D12Rik |
A |
T |
8: 107,227,411 (GRCm39) |
|
probably null |
Het |
Abcb11 |
C |
A |
2: 69,117,979 (GRCm39) |
Q466H |
probably damaging |
Het |
Adam20 |
A |
G |
8: 41,248,421 (GRCm39) |
D177G |
probably benign |
Het |
Ampd1 |
A |
T |
3: 102,992,696 (GRCm39) |
Q150L |
probably benign |
Het |
Angpt2 |
A |
C |
8: 18,755,840 (GRCm39) |
M209R |
probably benign |
Het |
Aoc2 |
G |
A |
11: 101,219,371 (GRCm39) |
R598Q |
probably damaging |
Het |
Arap1 |
A |
G |
7: 101,049,418 (GRCm39) |
D960G |
probably damaging |
Het |
Bhlhe40 |
G |
C |
6: 108,642,242 (GRCm39) |
L395F |
probably benign |
Het |
Cacna1i |
T |
C |
15: 80,275,854 (GRCm39) |
C1882R |
possibly damaging |
Het |
Ccr6 |
A |
G |
17: 8,475,611 (GRCm39) |
N272S |
possibly damaging |
Het |
Ces1f |
A |
T |
8: 93,998,472 (GRCm39) |
W175R |
probably damaging |
Het |
Ces3a |
A |
C |
8: 105,782,239 (GRCm39) |
H364P |
possibly damaging |
Het |
Cfap54 |
T |
C |
10: 92,637,000 (GRCm39) |
M3130V |
probably benign |
Het |
Clca3b |
G |
A |
3: 144,531,681 (GRCm39) |
P708S |
possibly damaging |
Het |
Cps1 |
A |
T |
1: 67,197,028 (GRCm39) |
T360S |
probably benign |
Het |
Cramp1 |
A |
T |
17: 25,201,379 (GRCm39) |
M701K |
possibly damaging |
Het |
Dnah1 |
A |
G |
14: 31,020,664 (GRCm39) |
I1235T |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,920,837 (GRCm39) |
L4676P |
probably benign |
Het |
Ergic1 |
A |
G |
17: 26,860,644 (GRCm39) |
E244G |
probably damaging |
Het |
Fignl2 |
C |
A |
15: 100,951,382 (GRCm39) |
R300L |
unknown |
Het |
Fry |
T |
C |
5: 150,419,814 (GRCm39) |
M628T |
|
Het |
Fscn3 |
A |
G |
6: 28,431,544 (GRCm39) |
T292A |
possibly damaging |
Het |
Fsip2 |
A |
T |
2: 82,819,860 (GRCm39) |
I5198L |
probably benign |
Het |
Gm4181 |
T |
A |
14: 51,869,990 (GRCm39) |
R104W |
probably damaging |
Het |
Gnl1 |
G |
A |
17: 36,294,305 (GRCm39) |
R308H |
probably benign |
Het |
Gtf2h4 |
G |
T |
17: 35,980,857 (GRCm39) |
L271I |
probably damaging |
Het |
Helq |
GTTT |
GTT |
5: 100,931,051 (GRCm39) |
|
probably null |
Het |
Hhatl |
A |
T |
9: 121,618,652 (GRCm39) |
W117R |
probably benign |
Het |
Hlx |
A |
G |
1: 184,462,993 (GRCm39) |
F220L |
probably benign |
Het |
Il31ra |
T |
C |
13: 112,688,497 (GRCm39) |
I27V |
probably damaging |
Het |
Itga8 |
T |
G |
2: 12,266,940 (GRCm39) |
D165A |
probably damaging |
Het |
Krt33a |
A |
C |
11: 99,902,801 (GRCm39) |
V341G |
probably benign |
Het |
Lrrc3c |
A |
G |
11: 98,490,266 (GRCm39) |
M208V |
possibly damaging |
Het |
Mapk8ip3 |
A |
T |
17: 25,120,135 (GRCm39) |
S947T |
probably benign |
Het |
Muc5b |
A |
G |
7: 141,412,444 (GRCm39) |
I1797V |
unknown |
Het |
Myh2 |
A |
T |
11: 67,088,191 (GRCm39) |
T1936S |
probably benign |
Het |
Nr1h2 |
T |
C |
7: 44,199,746 (GRCm39) |
Y391C |
possibly damaging |
Het |
Or1l8 |
T |
A |
2: 36,817,986 (GRCm39) |
I47F |
probably damaging |
Het |
Or4c114 |
A |
T |
2: 88,904,811 (GRCm39) |
I208K |
probably damaging |
Het |
Or4e2 |
A |
G |
14: 52,688,670 (GRCm39) |
I267V |
probably benign |
Het |
Or5d40 |
A |
G |
2: 88,015,952 (GRCm39) |
T244A |
possibly damaging |
Het |
Phf3 |
A |
G |
1: 30,852,211 (GRCm39) |
M1064T |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,794,025 (GRCm39) |
E1904G |
probably benign |
Het |
Polrmt |
A |
G |
10: 79,576,483 (GRCm39) |
V491A |
probably benign |
Het |
Ppm1j |
C |
A |
3: 104,691,429 (GRCm39) |
R306S |
probably damaging |
Het |
Prkd2 |
T |
C |
7: 16,581,547 (GRCm39) |
F134S |
probably benign |
Het |
Prpf8 |
C |
A |
11: 75,382,610 (GRCm39) |
Q439K |
probably benign |
Het |
Prss50 |
A |
T |
9: 110,692,800 (GRCm39) |
I307F |
possibly damaging |
Het |
Rgs20 |
A |
G |
1: 4,982,535 (GRCm39) |
|
probably null |
Het |
Rnf144b |
A |
G |
13: 47,393,258 (GRCm39) |
E199G |
probably damaging |
Het |
Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
Slc22a26 |
A |
T |
19: 7,768,259 (GRCm39) |
V233E |
probably damaging |
Het |
Slc27a2 |
T |
G |
2: 126,395,124 (GRCm39) |
L17R |
probably benign |
Het |
Slc6a17 |
A |
G |
3: 107,398,794 (GRCm39) |
V269A |
probably benign |
Het |
Srp54c |
T |
C |
12: 55,304,237 (GRCm39) |
V395A |
probably benign |
Het |
Sspo |
A |
T |
6: 48,438,581 (GRCm39) |
S1550C |
possibly damaging |
Het |
Themis |
A |
T |
10: 28,609,497 (GRCm39) |
H88L |
probably benign |
Het |
Tmem63b |
G |
A |
17: 45,971,773 (GRCm39) |
T814M |
possibly damaging |
Het |
Tnc |
G |
A |
4: 63,889,469 (GRCm39) |
T1679I |
probably damaging |
Het |
Tnfrsf11a |
A |
G |
1: 105,772,456 (GRCm39) |
D581G |
probably damaging |
Het |
Trim30d |
A |
C |
7: 104,132,555 (GRCm39) |
V244G |
probably benign |
Het |
Trpv1 |
T |
C |
11: 73,151,163 (GRCm39) |
S784P |
possibly damaging |
Het |
Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
Ubap2l |
A |
C |
3: 89,922,713 (GRCm39) |
V775G |
unknown |
Het |
Vmn2r69 |
A |
C |
7: 85,060,972 (GRCm39) |
I204R |
possibly damaging |
Het |
Vmn2r72 |
T |
A |
7: 85,399,771 (GRCm39) |
D426V |
probably benign |
Het |
Vmn2r93 |
G |
A |
17: 18,533,497 (GRCm39) |
W467* |
probably null |
Het |
Wbp2nl |
T |
C |
15: 82,198,542 (GRCm39) |
*360Q |
probably null |
Het |
Xylt1 |
G |
A |
7: 117,191,274 (GRCm39) |
|
probably null |
Het |
Zc3h6 |
T |
G |
2: 128,835,331 (GRCm39) |
N123K |
unknown |
Het |
Zfp853 |
T |
C |
5: 143,275,110 (GRCm39) |
Q185R |
unknown |
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 |
R7255:Tet1
|
UTSW |
10 |
62,658,415 (GRCm39) |
missense |
probably benign |
0.15 |
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'- GGTTTCGATCCCGATTCATTCG -3'
(R):5'- ACTCAGTCTCCCAAATGCTGG -3'
Sequencing Primer
(F):5'- TCGCGTCAGAAAACTCGG -3'
(R):5'- AAACTCAGGTGACCAAGC -3'
|
Posted On |
2019-06-26 |