Incidental Mutation 'R5193:Tet1'
ID |
399858 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
042769-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5193 (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 C
at 62674026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1350
(D1350G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050826
AA Change: D1350G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: D1350G
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: D1350G
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: D1350G
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
A |
T |
2: 150,677,226 (GRCm39) |
*56R |
probably null |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Arfgap3 |
C |
T |
15: 83,216,898 (GRCm39) |
A156T |
probably benign |
Het |
Bpifc |
T |
C |
10: 85,836,497 (GRCm39) |
T3A |
probably benign |
Het |
Ccdc7a |
T |
A |
8: 129,715,278 (GRCm39) |
I269L |
probably benign |
Het |
Cd151 |
A |
G |
7: 141,050,606 (GRCm39) |
Y253C |
probably damaging |
Het |
Cenpl |
C |
A |
1: 160,911,037 (GRCm39) |
S328* |
probably null |
Het |
Cfl1 |
T |
A |
19: 5,542,580 (GRCm39) |
V20D |
probably damaging |
Het |
Clec14a |
A |
G |
12: 58,315,400 (GRCm39) |
L74P |
probably damaging |
Het |
Cnn1 |
A |
T |
9: 22,019,132 (GRCm39) |
D196V |
probably damaging |
Het |
Cst13 |
C |
A |
2: 148,670,143 (GRCm39) |
C104* |
probably null |
Het |
Det1 |
A |
G |
7: 78,493,302 (GRCm39) |
V234A |
probably damaging |
Het |
Efnb2 |
A |
G |
8: 8,673,162 (GRCm39) |
M165T |
probably damaging |
Het |
Fbxo10 |
T |
A |
4: 45,051,573 (GRCm39) |
K339* |
probably null |
Het |
Fnta |
A |
T |
8: 26,501,246 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
T |
2: 82,813,338 (GRCm39) |
Y3219F |
possibly damaging |
Het |
Gprin2 |
C |
T |
14: 33,916,832 (GRCm39) |
V313M |
possibly damaging |
Het |
Hars1 |
A |
G |
18: 36,900,358 (GRCm39) |
L448S |
possibly damaging |
Het |
Hipk3 |
A |
G |
2: 104,260,345 (GRCm39) |
I1166T |
possibly damaging |
Het |
Il31ra |
T |
C |
13: 112,660,864 (GRCm39) |
E602G |
probably benign |
Het |
Kctd15 |
A |
G |
7: 34,344,282 (GRCm39) |
L123P |
probably damaging |
Het |
Kifbp |
T |
C |
10: 62,395,175 (GRCm39) |
D489G |
possibly damaging |
Het |
Krt1 |
C |
A |
15: 101,754,357 (GRCm39) |
S631I |
unknown |
Het |
Lancl1 |
T |
A |
1: 67,060,173 (GRCm39) |
Y84F |
probably benign |
Het |
Lcor |
A |
G |
19: 41,570,969 (GRCm39) |
D54G |
probably damaging |
Het |
Mafa |
G |
T |
15: 75,619,666 (GRCm39) |
P36T |
unknown |
Het |
Magi2 |
G |
A |
5: 20,563,970 (GRCm39) |
|
probably null |
Het |
Mcm9 |
T |
A |
10: 53,492,134 (GRCm39) |
I396F |
probably damaging |
Het |
Mrgprh |
T |
C |
17: 13,095,942 (GRCm39) |
F61L |
probably damaging |
Het |
Or10g1b |
A |
G |
14: 52,628,069 (GRCm39) |
W54R |
probably benign |
Het |
Or1e16 |
TAGCGGTCGTA |
T |
11: 73,286,479 (GRCm39) |
|
probably null |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or51a7 |
T |
A |
7: 102,615,143 (GRCm39) |
F279I |
possibly damaging |
Het |
Or5w17 |
A |
T |
2: 87,583,448 (GRCm39) |
D296E |
possibly damaging |
Het |
Pcsk5 |
T |
A |
19: 17,542,174 (GRCm39) |
T806S |
possibly damaging |
Het |
Pigc |
T |
C |
1: 161,798,465 (GRCm39) |
I149T |
possibly damaging |
Het |
Pou5f2 |
C |
A |
13: 78,173,083 (GRCm39) |
N8K |
probably benign |
Het |
Pou6f2 |
T |
C |
13: 18,300,129 (GRCm39) |
|
probably benign |
Het |
Prl3d2 |
T |
A |
13: 27,306,312 (GRCm39) |
M13K |
possibly damaging |
Het |
Pzp |
T |
C |
6: 128,479,297 (GRCm39) |
N619D |
probably benign |
Het |
Rnps1 |
G |
A |
17: 24,637,517 (GRCm39) |
S53N |
probably benign |
Het |
Scaf8 |
C |
G |
17: 3,240,440 (GRCm39) |
A604G |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,721 (GRCm39) |
N1716S |
probably damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc34a1 |
A |
G |
13: 24,003,845 (GRCm39) |
|
probably null |
Het |
Syne2 |
A |
G |
12: 76,141,194 (GRCm39) |
D6102G |
probably damaging |
Het |
Tbc1d16 |
A |
T |
11: 119,049,646 (GRCm39) |
D283E |
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,946,141 (GRCm39) |
Y997H |
possibly damaging |
Het |
Tyro3 |
T |
C |
2: 119,640,998 (GRCm39) |
L494P |
probably damaging |
Het |
Uba6 |
G |
T |
5: 86,272,281 (GRCm39) |
Q803K |
probably benign |
Het |
Vgll2 |
T |
A |
10: 51,904,088 (GRCm39) |
L317Q |
possibly damaging |
Het |
Wdr62 |
A |
T |
7: 29,964,592 (GRCm39) |
I384N |
probably damaging |
Het |
Wdtc1 |
G |
A |
4: 133,021,678 (GRCm39) |
R619* |
probably null |
Het |
Xkr6 |
A |
G |
14: 64,056,356 (GRCm39) |
D89G |
possibly damaging |
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 |
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'- GTCCCACTTGAAAGAGTTTACCTC -3'
(R):5'- CTGACACACTCTTGCCAGAC -3'
Sequencing Primer
(F):5'- ACCTCTTTTCCCAGTCTGAGTAG -3'
(R):5'- TCTTGCCAGACCCAGCATC -3'
|
Posted On |
2016-07-06 |