Incidental Mutation 'R4687:Tet1'
| ID |
353774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet1
|
| Ensembl Gene |
ENSMUSG00000047146 |
| Gene Name |
tet methylcytosine dioxygenase 1 |
| Synonyms |
BB001228, 2510010B09Rik, D10Ertd17e, Cxxc6 |
| MMRRC Submission |
041938-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4687 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62804570-62908996 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62838791 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 1169
(N1169Y)
|
| 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: N1169Y
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: N1169Y
| 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: N1169Y
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: N1169Y
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
A |
17: 8,992,153 (GRCm38) |
Y45N |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,798,326 (GRCm38) |
V189A |
probably damaging |
Het |
| Akip1 |
C |
A |
7: 109,704,986 (GRCm38) |
S90* |
probably null |
Het |
| Amn |
A |
T |
12: 111,276,068 (GRCm38) |
D439V |
probably benign |
Het |
| Arhgap17 |
T |
A |
7: 123,321,603 (GRCm38) |
D149V |
probably damaging |
Het |
| Atp6v0a4 |
A |
T |
6: 38,092,465 (GRCm38) |
I76N |
possibly damaging |
Het |
| Atp6v1h |
A |
T |
1: 5,133,085 (GRCm38) |
N291I |
probably damaging |
Het |
| Baiap2l2 |
G |
T |
15: 79,259,253 (GRCm38) |
P462T |
probably damaging |
Het |
| Bves |
C |
T |
10: 45,354,840 (GRCm38) |
|
probably null |
Het |
| Cabp7 |
T |
A |
11: 4,739,265 (GRCm38) |
K127* |
probably null |
Het |
| Cacna1h |
A |
G |
17: 25,393,910 (GRCm38) |
V313A |
possibly damaging |
Het |
| Camkk2 |
T |
C |
5: 122,753,724 (GRCm38) |
H245R |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,932,460 (GRCm38) |
S1761C |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,627,456 (GRCm38) |
E1849G |
possibly damaging |
Het |
| Ciz1 |
T |
C |
2: 32,367,465 (GRCm38) |
L174P |
probably damaging |
Het |
| Crim1 |
G |
T |
17: 78,303,025 (GRCm38) |
C303F |
probably damaging |
Het |
| Cyp26c1 |
A |
G |
19: 37,692,937 (GRCm38) |
Q396R |
probably damaging |
Het |
| Dnajc7 |
G |
A |
11: 100,599,300 (GRCm38) |
P43L |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,907,012 (GRCm38) |
H16R |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,191,619 (GRCm38) |
T1127A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,201,123 (GRCm38) |
L1525P |
probably damaging |
Het |
| Ehf |
T |
A |
2: 103,267,126 (GRCm38) |
D192V |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 83,020,631 (GRCm38) |
N71K |
probably damaging |
Het |
| Furin |
T |
A |
7: 80,393,447 (GRCm38) |
T339S |
probably benign |
Het |
| Gad1 |
T |
A |
2: 70,600,720 (GRCm38) |
I569N |
possibly damaging |
Het |
| Gfi1 |
T |
C |
5: 107,723,810 (GRCm38) |
K10R |
probably damaging |
Het |
| Gm20775 |
T |
A |
Y: 10,641,258 (GRCm38) |
|
noncoding transcript |
Homo |
| Gpn3 |
A |
C |
5: 122,378,575 (GRCm38) |
D89A |
possibly damaging |
Het |
| Gpr18 |
T |
A |
14: 121,911,678 (GRCm38) |
R312* |
probably null |
Het |
| Gsap |
T |
C |
5: 21,246,971 (GRCm38) |
|
probably benign |
Het |
| H2-Ab1 |
C |
A |
17: 34,264,809 (GRCm38) |
T48K |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,438,285 (GRCm38) |
N4326I |
probably benign |
Het |
| Igkv4-51 |
A |
C |
6: 69,681,730 (GRCm38) |
|
probably benign |
Het |
| Insr |
T |
C |
8: 3,161,709 (GRCm38) |
H1104R |
probably benign |
Het |
| Ipo13 |
A |
T |
4: 117,901,576 (GRCm38) |
N697K |
probably benign |
Het |
| Iqcm |
T |
G |
8: 75,762,989 (GRCm38) |
F362V |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,566,823 (GRCm38) |
S425P |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,577,412 (GRCm38) |
E242G |
possibly damaging |
Het |
| Kdm4a |
T |
C |
4: 118,144,083 (GRCm38) |
K829R |
probably damaging |
Het |
| Kdr |
T |
C |
5: 75,968,792 (GRCm38) |
N145S |
possibly damaging |
Het |
| Klra9 |
A |
T |
6: 130,185,517 (GRCm38) |
D185E |
probably benign |
Het |
| Lcn12 |
T |
C |
2: 25,493,321 (GRCm38) |
N15S |
probably benign |
Het |
| Mei4 |
T |
A |
9: 81,927,317 (GRCm38) |
M151K |
probably damaging |
Het |
| Mmp3 |
T |
A |
9: 7,451,223 (GRCm38) |
S320T |
probably benign |
Het |
| Mrps5 |
C |
G |
2: 127,590,770 (GRCm38) |
A37G |
probably benign |
Het |
| Mttp |
A |
G |
3: 138,092,735 (GRCm38) |
I800T |
possibly damaging |
Het |
| Nags |
A |
T |
11: 102,148,196 (GRCm38) |
Q451L |
probably damaging |
Het |
| Nbea |
T |
C |
3: 56,058,065 (GRCm38) |
T476A |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,722,419 (GRCm38) |
E145G |
possibly damaging |
Het |
| Neb |
T |
G |
2: 52,304,035 (GRCm38) |
S660R |
possibly damaging |
Het |
| Nppb |
A |
G |
4: 147,986,296 (GRCm38) |
K43E |
probably benign |
Het |
| Nup188 |
A |
T |
2: 30,330,633 (GRCm38) |
Q906L |
probably benign |
Het |
| Olfr1259 |
T |
C |
2: 89,943,869 (GRCm38) |
D82G |
probably damaging |
Het |
| Olfr1413 |
T |
C |
1: 92,573,330 (GRCm38) |
I53T |
possibly damaging |
Het |
| Olfr370 |
T |
A |
8: 83,541,860 (GRCm38) |
S239T |
probably damaging |
Het |
| Olfr895 |
C |
A |
9: 38,269,414 (GRCm38) |
N292K |
probably damaging |
Het |
| Ovch2 |
T |
A |
7: 107,796,548 (GRCm38) |
I88F |
possibly damaging |
Het |
| Palm3 |
A |
G |
8: 84,029,935 (GRCm38) |
E692G |
probably benign |
Het |
| Pcsk6 |
T |
C |
7: 65,983,753 (GRCm38) |
F578L |
probably damaging |
Het |
| Piezo2 |
A |
C |
18: 63,069,963 (GRCm38) |
D1535E |
probably damaging |
Het |
| Ppp1r15b |
T |
C |
1: 133,132,135 (GRCm38) |
V130A |
probably benign |
Het |
| Proca1 |
T |
C |
11: 78,204,898 (GRCm38) |
Y32H |
probably damaging |
Het |
| Prtg |
T |
A |
9: 72,890,798 (GRCm38) |
V682E |
probably damaging |
Het |
| Pyroxd1 |
A |
T |
6: 142,361,868 (GRCm38) |
M455L |
probably benign |
Het |
| Rasa1 |
T |
C |
13: 85,226,635 (GRCm38) |
D739G |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,464,730 (GRCm38) |
I1550V |
possibly damaging |
Het |
| Sepsecs |
T |
C |
5: 52,643,871 (GRCm38) |
D483G |
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,550,355 (GRCm38) |
D17G |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 125,491,245 (GRCm38) |
C451Y |
probably damaging |
Het |
| Slc31a1 |
A |
G |
4: 62,388,702 (GRCm38) |
Y165C |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,342,469 (GRCm38) |
F68L |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 120,077,208 (GRCm38) |
|
probably benign |
Het |
| Stk3 |
A |
G |
15: 35,114,565 (GRCm38) |
I65T |
probably damaging |
Het |
| Tas2r115 |
C |
T |
6: 132,737,284 (GRCm38) |
A235T |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 36,049,097 (GRCm38) |
A1400T |
probably benign |
Het |
| Treml2 |
T |
A |
17: 48,309,397 (GRCm38) |
|
probably null |
Het |
| Tspan11 |
A |
G |
6: 127,938,235 (GRCm38) |
E104G |
probably damaging |
Het |
| Wdtc1 |
G |
A |
4: 133,296,431 (GRCm38) |
A543V |
probably damaging |
Het |
| Zfp148 |
T |
A |
16: 33,496,819 (GRCm38) |
D578E |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,711,856 (GRCm38) |
N542I |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,711,855 (GRCm38) |
N542Y |
probably damaging |
Het |
| Zfp869 |
T |
A |
8: 69,708,143 (GRCm38) |
E65D |
probably benign |
Het |
|
| Other mutations in Tet1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Tet1
|
APN |
10 |
62,814,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01079:Tet1
|
APN |
10 |
62,879,473 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01109:Tet1
|
APN |
10 |
62,879,774 (GRCm38) |
missense |
probably benign |
|
|
IGL01634:Tet1
|
APN |
10 |
62,878,588 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02003:Tet1
|
APN |
10 |
62,816,400 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02081:Tet1
|
APN |
10 |
62,813,818 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02100:Tet1
|
APN |
10 |
62,812,728 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02228:Tet1
|
APN |
10 |
62,813,734 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02524:Tet1
|
APN |
10 |
62,878,646 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02539:Tet1
|
APN |
10 |
62,813,019 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
IGL02608:Tet1
|
APN |
10 |
62,839,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02608:Tet1
|
APN |
10 |
62,879,609 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02702:Tet1
|
APN |
10 |
62,879,752 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
K7371:Tet1
|
UTSW |
10 |
62,879,176 (GRCm38) |
missense |
probably benign |
|
|
R0166:Tet1
|
UTSW |
10 |
62,840,279 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0371:Tet1
|
UTSW |
10 |
62,878,399 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0373:Tet1
|
UTSW |
10 |
62,878,209 (GRCm38) |
nonsense |
probably null |
|
|
R0391:Tet1
|
UTSW |
10 |
62,814,546 (GRCm38) |
splice site |
probably null |
|
|
R0445:Tet1
|
UTSW |
10 |
62,879,941 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1016:Tet1
|
UTSW |
10 |
62,879,950 (GRCm38) |
missense |
probably benign |
|
|
R1344:Tet1
|
UTSW |
10 |
62,814,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1546:Tet1
|
UTSW |
10 |
62,812,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1651:Tet1
|
UTSW |
10 |
62,879,674 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1725:Tet1
|
UTSW |
10 |
62,814,477 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1752:Tet1
|
UTSW |
10 |
62,812,989 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1834:Tet1
|
UTSW |
10 |
62,813,665 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1964:Tet1
|
UTSW |
10 |
62,812,947 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2239:Tet1
|
UTSW |
10 |
62,879,734 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2962:Tet1
|
UTSW |
10 |
62,814,544 (GRCm38) |
nonsense |
probably null |
|
|
R3084:Tet1
|
UTSW |
10 |
62,879,621 (GRCm38) |
missense |
probably benign |
0.34 |
|
R3086:Tet1
|
UTSW |
10 |
62,879,621 (GRCm38) |
missense |
probably benign |
0.34 |
|
R3972:Tet1
|
UTSW |
10 |
62,813,726 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4622:Tet1
|
UTSW |
10 |
62,819,474 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4674:Tet1
|
UTSW |
10 |
62,838,848 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4718:Tet1
|
UTSW |
10 |
62,813,812 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4801:Tet1
|
UTSW |
10 |
62,822,663 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4802:Tet1
|
UTSW |
10 |
62,822,663 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4903:Tet1
|
UTSW |
10 |
62,822,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5153:Tet1
|
UTSW |
10 |
62,878,578 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R5193:Tet1
|
UTSW |
10 |
62,838,247 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5225:Tet1
|
UTSW |
10 |
62,838,671 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5437:Tet1
|
UTSW |
10 |
62,814,451 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5465:Tet1
|
UTSW |
10 |
62,839,777 (GRCm38) |
missense |
probably benign |
|
|
R5535:Tet1
|
UTSW |
10 |
62,832,907 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5586:Tet1
|
UTSW |
10 |
62,878,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5763:Tet1
|
UTSW |
10 |
62,840,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5788:Tet1
|
UTSW |
10 |
62,839,958 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5818:Tet1
|
UTSW |
10 |
62,816,408 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5860:Tet1
|
UTSW |
10 |
62,812,620 (GRCm38) |
splice site |
probably null |
|
|
R5975:Tet1
|
UTSW |
10 |
62,879,773 (GRCm38) |
missense |
probably benign |
0.37 |
|
R6041:Tet1
|
UTSW |
10 |
62,813,373 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6092:Tet1
|
UTSW |
10 |
62,813,715 (GRCm38) |
missense |
probably benign |
0.10 |
|
R6132:Tet1
|
UTSW |
10 |
62,813,300 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6157:Tet1
|
UTSW |
10 |
62,839,970 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6520:Tet1
|
UTSW |
10 |
62,880,013 (GRCm38) |
start codon destroyed |
probably null |
0.53 |
|
R7210:Tet1
|
UTSW |
10 |
62,814,501 (GRCm38) |
missense |
probably null |
0.95 |
|
R7223:Tet1
|
UTSW |
10 |
62,813,671 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7255:Tet1
|
UTSW |
10 |
62,822,636 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7323:Tet1
|
UTSW |
10 |
62,880,039 (GRCm38) |
start gained |
probably benign |
|
|
R7472:Tet1
|
UTSW |
10 |
62,813,350 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7507:Tet1
|
UTSW |
10 |
62,832,892 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7522:Tet1
|
UTSW |
10 |
62,818,983 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7849:Tet1
|
UTSW |
10 |
62,819,473 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7879:Tet1
|
UTSW |
10 |
62,879,046 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8073:Tet1
|
UTSW |
10 |
62,813,353 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8098:Tet1
|
UTSW |
10 |
62,879,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8147:Tet1
|
UTSW |
10 |
62,878,807 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8355:Tet1
|
UTSW |
10 |
62,816,450 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8545:Tet1
|
UTSW |
10 |
62,812,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8556:Tet1
|
UTSW |
10 |
62,840,206 (GRCm38) |
missense |
probably benign |
0.37 |
|
R8936:Tet1
|
UTSW |
10 |
62,840,284 (GRCm38) |
nonsense |
probably null |
|
|
R9173:Tet1
|
UTSW |
10 |
62,840,286 (GRCm38) |
missense |
probably benign |
|
|
R9414:Tet1
|
UTSW |
10 |
62,839,156 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9584:Tet1
|
UTSW |
10 |
62,819,527 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Tet1
|
UTSW |
10 |
62,818,985 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTCTGCCCACCGGATTC -3'
(R):5'- AGTGTACCATCAGCAAAGCC -3'
Sequencing Primer
(F):5'- CCACCGGATTCTGTCTTGAATTGG -3'
(R):5'- GTGTACCATCAGCAAAGCCAAAGAAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation