Incidental Mutation 'R4687:Tet1'
ID |
353774 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
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 |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62674570 bp (GRCm39)
|
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: 9,210,985 (GRCm39) |
Y45N |
probably damaging |
Het |
Agbl3 |
T |
C |
6: 34,775,261 (GRCm39) |
V189A |
probably damaging |
Het |
Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
Amn |
A |
T |
12: 111,242,502 (GRCm39) |
D439V |
probably benign |
Het |
Arhgap17 |
T |
A |
7: 122,920,826 (GRCm39) |
D149V |
probably damaging |
Het |
Atp6v0a4 |
A |
T |
6: 38,069,400 (GRCm39) |
I76N |
possibly damaging |
Het |
Atp6v1h |
A |
T |
1: 5,203,308 (GRCm39) |
N291I |
probably damaging |
Het |
Baiap2l2 |
G |
T |
15: 79,143,453 (GRCm39) |
P462T |
probably damaging |
Het |
Bves |
C |
T |
10: 45,230,936 (GRCm39) |
|
probably null |
Het |
Cabp7 |
T |
A |
11: 4,689,265 (GRCm39) |
K127* |
probably null |
Het |
Cacna1h |
A |
G |
17: 25,612,884 (GRCm39) |
V313A |
possibly damaging |
Het |
Camkk2 |
T |
C |
5: 122,891,787 (GRCm39) |
H245R |
probably damaging |
Het |
Celsr1 |
T |
A |
15: 85,816,661 (GRCm39) |
S1761C |
possibly damaging |
Het |
Cfap46 |
T |
C |
7: 139,207,372 (GRCm39) |
E1849G |
possibly damaging |
Het |
Ciz1 |
T |
C |
2: 32,257,477 (GRCm39) |
L174P |
probably damaging |
Het |
Crim1 |
G |
T |
17: 78,610,454 (GRCm39) |
C303F |
probably damaging |
Het |
Cyp26c1 |
A |
G |
19: 37,681,385 (GRCm39) |
Q396R |
probably damaging |
Het |
Dnajc7 |
G |
A |
11: 100,490,126 (GRCm39) |
P43L |
probably damaging |
Het |
Dpf2 |
T |
C |
19: 5,957,040 (GRCm39) |
H16R |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,375,595 (GRCm39) |
T1127A |
probably damaging |
Het |
Dst |
T |
C |
1: 34,240,204 (GRCm39) |
L1525P |
probably damaging |
Het |
Ehf |
T |
A |
2: 103,097,471 (GRCm39) |
D192V |
probably damaging |
Het |
Frem1 |
G |
T |
4: 82,938,868 (GRCm39) |
N71K |
probably damaging |
Het |
Furin |
T |
A |
7: 80,043,195 (GRCm39) |
T339S |
probably benign |
Het |
Gad1 |
T |
A |
2: 70,431,064 (GRCm39) |
I569N |
possibly damaging |
Het |
Gfi1 |
T |
C |
5: 107,871,676 (GRCm39) |
K10R |
probably damaging |
Het |
Gm20775 |
T |
A |
Y: 10,641,258 (GRCm39) |
|
noncoding transcript |
Homo |
Gpn3 |
A |
C |
5: 122,516,638 (GRCm39) |
D89A |
possibly damaging |
Het |
Gpr18 |
T |
A |
14: 122,149,090 (GRCm39) |
R312* |
probably null |
Het |
Gsap |
T |
C |
5: 21,451,969 (GRCm39) |
|
probably benign |
Het |
H2-Ab1 |
C |
A |
17: 34,483,783 (GRCm39) |
T48K |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,328,297 (GRCm39) |
N4326I |
probably benign |
Het |
Igkv4-51 |
A |
C |
6: 69,658,714 (GRCm39) |
|
probably benign |
Het |
Insr |
T |
C |
8: 3,211,709 (GRCm39) |
H1104R |
probably benign |
Het |
Ipo13 |
A |
T |
4: 117,758,773 (GRCm39) |
N697K |
probably benign |
Het |
Iqcm |
T |
G |
8: 76,489,617 (GRCm39) |
F362V |
probably damaging |
Het |
Irak4 |
T |
C |
15: 94,464,704 (GRCm39) |
S425P |
probably damaging |
Het |
Jakmip2 |
T |
C |
18: 43,710,477 (GRCm39) |
E242G |
possibly damaging |
Het |
Kdm4a |
T |
C |
4: 118,001,280 (GRCm39) |
K829R |
probably damaging |
Het |
Kdr |
T |
C |
5: 76,129,452 (GRCm39) |
N145S |
possibly damaging |
Het |
Klra9 |
A |
T |
6: 130,162,480 (GRCm39) |
D185E |
probably benign |
Het |
Lcn12 |
T |
C |
2: 25,383,333 (GRCm39) |
N15S |
probably benign |
Het |
Mei4 |
T |
A |
9: 81,809,370 (GRCm39) |
M151K |
probably damaging |
Het |
Mmp3 |
T |
A |
9: 7,451,223 (GRCm39) |
S320T |
probably benign |
Het |
Mrps5 |
C |
G |
2: 127,432,690 (GRCm39) |
A37G |
probably benign |
Het |
Mttp |
A |
G |
3: 137,798,496 (GRCm39) |
I800T |
possibly damaging |
Het |
Nags |
A |
T |
11: 102,039,022 (GRCm39) |
Q451L |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,965,486 (GRCm39) |
T476A |
probably damaging |
Het |
Ndufb10 |
T |
C |
17: 24,941,393 (GRCm39) |
E145G |
possibly damaging |
Het |
Neb |
T |
G |
2: 52,194,047 (GRCm39) |
S660R |
possibly damaging |
Het |
Nppb |
A |
G |
4: 148,070,753 (GRCm39) |
K43E |
probably benign |
Het |
Nup188 |
A |
T |
2: 30,220,645 (GRCm39) |
Q906L |
probably benign |
Het |
Or10k2 |
T |
A |
8: 84,268,489 (GRCm39) |
S239T |
probably damaging |
Het |
Or4c12 |
T |
C |
2: 89,774,213 (GRCm39) |
D82G |
probably damaging |
Het |
Or8c17 |
C |
A |
9: 38,180,710 (GRCm39) |
N292K |
probably damaging |
Het |
Or9s23 |
T |
C |
1: 92,501,052 (GRCm39) |
I53T |
possibly damaging |
Het |
Ovch2 |
T |
A |
7: 107,395,755 (GRCm39) |
I88F |
possibly damaging |
Het |
Palm3 |
A |
G |
8: 84,756,564 (GRCm39) |
E692G |
probably benign |
Het |
Pcsk6 |
T |
C |
7: 65,633,501 (GRCm39) |
F578L |
probably damaging |
Het |
Piezo2 |
A |
C |
18: 63,203,034 (GRCm39) |
D1535E |
probably damaging |
Het |
Ppp1r15b |
T |
C |
1: 133,059,873 (GRCm39) |
V130A |
probably benign |
Het |
Proca1 |
T |
C |
11: 78,095,724 (GRCm39) |
Y32H |
probably damaging |
Het |
Prtg |
T |
A |
9: 72,798,080 (GRCm39) |
V682E |
probably damaging |
Het |
Pyroxd1 |
A |
T |
6: 142,307,594 (GRCm39) |
M455L |
probably benign |
Het |
Rasa1 |
T |
C |
13: 85,374,754 (GRCm39) |
D739G |
possibly damaging |
Het |
Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
Sepsecs |
T |
C |
5: 52,801,213 (GRCm39) |
D483G |
probably benign |
Het |
Setd7 |
T |
C |
3: 51,457,776 (GRCm39) |
D17G |
probably damaging |
Het |
Sipa1l2 |
C |
T |
8: 126,217,984 (GRCm39) |
C451Y |
probably damaging |
Het |
Slc31a1 |
A |
G |
4: 62,306,939 (GRCm39) |
Y165C |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,249,776 (GRCm39) |
F68L |
possibly damaging |
Het |
Sptbn5 |
A |
G |
2: 119,907,689 (GRCm39) |
|
probably benign |
Het |
Stk3 |
A |
G |
15: 35,114,711 (GRCm39) |
I65T |
probably damaging |
Het |
Tas2r115 |
C |
T |
6: 132,714,247 (GRCm39) |
A235T |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,939,924 (GRCm39) |
A1400T |
probably benign |
Het |
Treml2 |
T |
A |
17: 48,616,425 (GRCm39) |
|
probably null |
Het |
Tspan11 |
A |
G |
6: 127,915,198 (GRCm39) |
E104G |
probably damaging |
Het |
Wdtc1 |
G |
A |
4: 133,023,742 (GRCm39) |
A543V |
probably damaging |
Het |
Zfp148 |
T |
A |
16: 33,317,189 (GRCm39) |
D578E |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,602,682 (GRCm39) |
N542I |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,602,681 (GRCm39) |
N542Y |
probably damaging |
Het |
Zfp869 |
T |
A |
8: 70,160,793 (GRCm39) |
E65D |
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 |
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'- AATGTCTGCCCACCGGATTC -3'
(R):5'- AGTGTACCATCAGCAAAGCC -3'
Sequencing Primer
(F):5'- CCACCGGATTCTGTCTTGAATTGG -3'
(R):5'- GTGTACCATCAGCAAAGCCAAAGAAG -3'
|
Posted On |
2015-10-21 |