Incidental Mutation 'R1546:Tet1'
ID |
172190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
039585-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1546 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62648689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1914
(D1914E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174121]
[ENSMUST00000174189]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050826
AA Change: D1882E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: D1882E
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: ENSMUST00000173087
|
SMART Domains |
Protein: ENSMUSP00000133706 Gene: ENSMUSG00000047146
Domain | Start | End | E-Value | Type |
Tet_JBP
|
2 |
138 |
2.64e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173905
|
SMART Domains |
Protein: ENSMUSP00000134571 Gene: ENSMUSG00000047146
Domain | Start | End | E-Value | Type |
Pfam:Tet_JBP
|
1 |
61 |
2.4e-20 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174121
AA Change: D303E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134328 Gene: ENSMUSG00000047146 AA Change: D303E
Domain | Start | End | E-Value | Type |
Tet_JBP
|
1 |
352 |
1.49e-83 |
SMART |
low complexity region
|
365 |
377 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174189
AA Change: D1914E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: D1914E
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: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
C |
4: 148,026,232 (GRCm39) |
S251P |
probably damaging |
Het |
Aaas |
C |
A |
15: 102,255,153 (GRCm39) |
R79L |
probably benign |
Het |
Acap2 |
C |
A |
16: 30,923,754 (GRCm39) |
E657* |
probably null |
Het |
Adgrg5 |
A |
T |
8: 95,668,258 (GRCm39) |
E441V |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
AY358078 |
C |
T |
14: 52,057,876 (GRCm39) |
|
probably null |
Het |
Bco2 |
A |
G |
9: 50,461,929 (GRCm39) |
V25A |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 36,924,205 (GRCm39) |
V10A |
possibly damaging |
Het |
Carf |
T |
A |
1: 60,165,195 (GRCm39) |
|
probably null |
Het |
Ccdc38 |
A |
T |
10: 93,401,741 (GRCm39) |
I134L |
probably benign |
Het |
Cgnl1 |
A |
G |
9: 71,633,097 (GRCm39) |
S85P |
probably benign |
Het |
Ctsl |
A |
G |
13: 64,515,693 (GRCm39) |
V126A |
probably damaging |
Het |
Cwc27 |
A |
C |
13: 104,938,693 (GRCm39) |
S206A |
probably damaging |
Het |
D630045J12Rik |
A |
G |
6: 38,167,590 (GRCm39) |
I1004T |
probably damaging |
Het |
Dgki |
A |
G |
6: 37,027,138 (GRCm39) |
V401A |
probably damaging |
Het |
Dpp8 |
C |
T |
9: 64,970,775 (GRCm39) |
H545Y |
possibly damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,386,680 (GRCm39) |
C205S |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,709,225 (GRCm39) |
E797K |
probably benign |
Het |
Ephb2 |
C |
T |
4: 136,498,320 (GRCm39) |
R253H |
probably damaging |
Het |
Esrra |
T |
C |
19: 6,897,665 (GRCm39) |
T31A |
probably benign |
Het |
Ewsr1 |
C |
A |
11: 5,028,574 (GRCm39) |
|
probably benign |
Het |
Flt4 |
G |
T |
11: 49,522,808 (GRCm39) |
R475L |
probably benign |
Het |
Gm13547 |
A |
G |
2: 29,653,921 (GRCm39) |
E138G |
possibly damaging |
Het |
Gm572 |
A |
T |
4: 148,751,276 (GRCm39) |
R216S |
possibly damaging |
Het |
H2ac8 |
A |
G |
13: 23,755,119 (GRCm39) |
V55A |
probably damaging |
Het |
Hapln2 |
T |
A |
3: 87,931,404 (GRCm39) |
Y37F |
probably benign |
Het |
Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,302 (GRCm39) |
|
probably benign |
Het |
Hhla1 |
C |
T |
15: 65,805,176 (GRCm39) |
A369T |
probably benign |
Het |
Hmg20a |
T |
A |
9: 56,374,685 (GRCm39) |
F14I |
possibly damaging |
Het |
Iqca1l |
A |
T |
5: 24,760,426 (GRCm39) |
|
probably null |
Het |
Itga2 |
A |
T |
13: 114,985,956 (GRCm39) |
S940T |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,359,116 (GRCm39) |
N377S |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lhx6 |
A |
G |
2: 35,981,049 (GRCm39) |
S298P |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,332,954 (GRCm39) |
G1521D |
probably damaging |
Het |
Mogat2 |
A |
G |
7: 98,881,766 (GRCm39) |
W57R |
probably damaging |
Het |
Ms4a3 |
T |
C |
19: 11,610,271 (GRCm39) |
N97S |
probably benign |
Het |
Myo1a |
A |
G |
10: 127,548,493 (GRCm39) |
D380G |
probably damaging |
Het |
Nufip2 |
T |
A |
11: 77,582,432 (GRCm39) |
D115E |
probably damaging |
Het |
Ogn |
A |
T |
13: 49,762,809 (GRCm39) |
K50N |
probably benign |
Het |
Or5ac20 |
T |
C |
16: 59,104,366 (GRCm39) |
R165G |
probably damaging |
Het |
Or8c10 |
A |
T |
9: 38,278,844 (GRCm39) |
M1L |
probably benign |
Het |
Pde8b |
G |
A |
13: 95,182,951 (GRCm39) |
T269I |
probably damaging |
Het |
Ppargc1b |
A |
T |
18: 61,443,677 (GRCm39) |
D495E |
probably damaging |
Het |
Prdm16 |
C |
A |
4: 154,613,117 (GRCm39) |
K103N |
possibly damaging |
Het |
Proc |
C |
T |
18: 32,260,463 (GRCm39) |
G221S |
probably damaging |
Het |
Pxk |
A |
G |
14: 8,164,091 (GRCm38) |
N561S |
probably damaging |
Het |
Rapgef5 |
A |
G |
12: 117,610,721 (GRCm39) |
N323S |
probably benign |
Het |
Slc6a13 |
T |
G |
6: 121,309,333 (GRCm39) |
D281E |
possibly damaging |
Het |
Slc8a1 |
T |
C |
17: 81,955,676 (GRCm39) |
Y454C |
probably damaging |
Het |
Sntg2 |
C |
A |
12: 30,338,295 (GRCm39) |
L115F |
probably damaging |
Het |
Spata13 |
A |
G |
14: 60,993,857 (GRCm39) |
D1103G |
probably damaging |
Het |
Supv3l1 |
G |
A |
10: 62,268,225 (GRCm39) |
A540V |
probably benign |
Het |
Tmem30a |
A |
G |
9: 79,678,570 (GRCm39) |
*329Q |
probably null |
Het |
Tspan5 |
A |
T |
3: 138,604,102 (GRCm39) |
L162F |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,549,396 (GRCm39) |
K31760N |
probably damaging |
Het |
Tyr |
A |
T |
7: 87,087,200 (GRCm39) |
D437E |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,144,238 (GRCm39) |
L1427* |
probably null |
Het |
Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,841,075 (GRCm39) |
S1490P |
probably damaging |
Het |
Vcl |
T |
A |
14: 21,059,018 (GRCm39) |
C545S |
probably damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,314,309 (GRCm39) |
G224D |
probably damaging |
Het |
Vmn2r97 |
T |
A |
17: 19,168,110 (GRCm39) |
V788E |
probably damaging |
Het |
Vrtn |
G |
A |
12: 84,695,282 (GRCm39) |
V11M |
probably damaging |
Het |
Zbtb21 |
A |
T |
16: 97,753,227 (GRCm39) |
V380D |
probably damaging |
Het |
Zcchc14 |
G |
A |
8: 122,331,002 (GRCm39) |
|
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 |
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 |
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'- GATTGTAGGGTCCCGCAACATGAG -3'
(R):5'- AGCTGCTGGGGAATGTACTGGAAC -3'
Sequencing Primer
(F):5'- CGGTAACAACATTGTCTCGG -3'
(R):5'- AGTCCATCTGAGCAGCTAACTTC -3'
|
Posted On |
2014-04-13 |