Incidental Mutation 'R1651:Tet1'
ID |
186396 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
039687-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1651 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62715453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 114
(L114P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
[ENSMUST00000218438]
[ENSMUST00000218782]
[ENSMUST00000227494]
[ENSMUST00000228901]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050826
AA Change: L114P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: L114P
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: L114P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: L114P
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 |
0.1933 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
97% (66/68) |
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 |
Abhd12 |
T |
A |
2: 150,690,341 (GRCm39) |
Q118L |
probably benign |
Het |
Acss1 |
A |
T |
2: 150,480,357 (GRCm39) |
V238D |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,635,972 (GRCm39) |
I3512M |
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,171,096 (GRCm39) |
Q1292R |
probably damaging |
Het |
Bpnt2 |
A |
G |
4: 4,792,737 (GRCm39) |
F123L |
probably damaging |
Het |
Caskin1 |
C |
T |
17: 24,721,186 (GRCm39) |
R509C |
possibly damaging |
Het |
Cd47 |
T |
C |
16: 49,714,591 (GRCm39) |
V147A |
possibly damaging |
Het |
Cdc20b |
T |
A |
13: 113,215,258 (GRCm39) |
Y275* |
probably null |
Het |
Chd4 |
A |
G |
6: 125,100,547 (GRCm39) |
D1745G |
possibly damaging |
Het |
Crmp1 |
T |
A |
5: 37,430,783 (GRCm39) |
S250T |
probably damaging |
Het |
Crybg2 |
A |
G |
4: 133,802,214 (GRCm39) |
K1125E |
probably benign |
Het |
Crybg2 |
C |
A |
4: 133,802,136 (GRCm39) |
P1099T |
possibly damaging |
Het |
Csf1r |
T |
A |
18: 61,243,473 (GRCm39) |
I163N |
possibly damaging |
Het |
Dicer1 |
T |
C |
12: 104,675,064 (GRCm39) |
T733A |
probably damaging |
Het |
Edar |
A |
G |
10: 58,441,875 (GRCm39) |
V339A |
possibly damaging |
Het |
Efcab3 |
A |
G |
11: 104,611,492 (GRCm39) |
R445G |
probably benign |
Het |
Efcab6 |
A |
G |
15: 83,755,194 (GRCm39) |
I1374T |
possibly damaging |
Het |
Erbb2 |
G |
A |
11: 98,324,283 (GRCm39) |
R757K |
probably damaging |
Het |
Fam98a |
A |
G |
17: 75,854,710 (GRCm39) |
V33A |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,531,191 (GRCm39) |
|
probably null |
Het |
Fcmr |
A |
G |
1: 130,805,988 (GRCm39) |
T315A |
probably benign |
Het |
Gdf9 |
G |
A |
11: 53,324,576 (GRCm39) |
R115Q |
probably damaging |
Het |
Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
H2-M10.1 |
A |
G |
17: 36,636,648 (GRCm39) |
V52A |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,260,748 (GRCm39) |
C1582* |
probably null |
Het |
Icam2 |
C |
T |
11: 106,268,782 (GRCm39) |
V229M |
probably damaging |
Het |
Itga7 |
C |
T |
10: 128,784,693 (GRCm39) |
P735L |
probably benign |
Het |
Kbtbd3 |
C |
A |
9: 4,330,589 (GRCm39) |
P321Q |
possibly damaging |
Het |
Kcnma1 |
T |
A |
14: 23,364,262 (GRCm39) |
T997S |
probably damaging |
Het |
Kifc5b |
T |
C |
17: 27,144,504 (GRCm39) |
F541S |
probably damaging |
Het |
Klhdc9 |
C |
A |
1: 171,188,016 (GRCm39) |
V72L |
probably benign |
Het |
Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
Lrrtm4 |
A |
G |
6: 79,999,511 (GRCm39) |
T308A |
probably benign |
Het |
Map1b |
T |
C |
13: 99,569,091 (GRCm39) |
E1210G |
unknown |
Het |
Mocs3 |
A |
G |
2: 168,073,489 (GRCm39) |
Y312C |
probably damaging |
Het |
Mrps7 |
G |
T |
11: 115,495,581 (GRCm39) |
E40* |
probably null |
Het |
Msantd5f1 |
A |
T |
4: 73,605,621 (GRCm39) |
N344I |
possibly damaging |
Het |
Msln |
T |
C |
17: 25,972,382 (GRCm39) |
H50R |
probably benign |
Het |
Myb |
A |
G |
10: 21,002,097 (GRCm39) |
F748S |
probably damaging |
Het |
Myo10 |
C |
A |
15: 25,742,455 (GRCm39) |
H590N |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,358,419 (GRCm39) |
E939G |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,239,278 (GRCm39) |
V107E |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,623,462 (GRCm39) |
N1011I |
probably damaging |
Het |
Or14c44 |
A |
G |
7: 86,057,078 (GRCm39) |
|
probably benign |
Het |
Or1ak2 |
T |
C |
2: 36,827,335 (GRCm39) |
L68P |
probably damaging |
Het |
Or4c118 |
A |
C |
2: 88,975,346 (GRCm39) |
V7G |
probably damaging |
Het |
Pcgf6 |
A |
T |
19: 47,037,441 (GRCm39) |
C153S |
probably damaging |
Het |
Phrf1 |
T |
C |
7: 140,817,434 (GRCm39) |
V81A |
probably benign |
Het |
Ppp4r4 |
A |
G |
12: 103,550,331 (GRCm39) |
N36D |
probably benign |
Het |
Prkch |
A |
G |
12: 73,805,775 (GRCm39) |
T517A |
possibly damaging |
Het |
Rasal1 |
A |
T |
5: 120,790,910 (GRCm39) |
K33* |
probably null |
Het |
Rp1l1 |
G |
A |
14: 64,268,442 (GRCm39) |
E1343K |
probably damaging |
Het |
Serpinb6e |
T |
C |
13: 34,020,406 (GRCm39) |
D234G |
probably benign |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Smyd3 |
T |
G |
1: 178,871,441 (GRCm39) |
I313L |
probably benign |
Het |
Tdrd9 |
C |
A |
12: 111,991,140 (GRCm39) |
D543E |
probably damaging |
Het |
Tmprss11c |
G |
A |
5: 86,387,283 (GRCm39) |
P212S |
probably damaging |
Het |
Tmx2 |
A |
T |
2: 84,506,461 (GRCm39) |
M77K |
probably damaging |
Het |
Traf3 |
T |
G |
12: 111,228,470 (GRCm39) |
D560E |
probably damaging |
Het |
Trappc12 |
C |
T |
12: 28,741,776 (GRCm39) |
M711I |
probably benign |
Het |
Trim2 |
A |
G |
3: 84,074,957 (GRCm39) |
|
probably null |
Het |
Vmn2r18 |
A |
G |
5: 151,485,464 (GRCm39) |
S677P |
probably damaging |
Het |
Wdr7 |
T |
A |
18: 63,853,847 (GRCm39) |
L60* |
probably null |
Het |
Wdr93 |
T |
C |
7: 79,399,830 (GRCm39) |
F140L |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,931,719 (GRCm39) |
T802A |
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 |
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'- TGATCTTTGGGGCAATGGAGCAC -3'
(R):5'- TCAAAGCAGGCTGTCAGACATGG -3'
Sequencing Primer
(F):5'- GCAATGGAGCACACTCTTG -3'
(R):5'- CTGTCAGACATGGGGCATCAG -3'
|
Posted On |
2014-05-09 |