Incidental Mutation 'R8073:Tet1'
| ID |
620359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet1
|
| Ensembl Gene |
ENSMUSG00000047146 |
| Gene Name |
tet methylcytosine dioxygenase 1 |
| Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8073 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 62649132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 156
(E156Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174121]
[ENSMUST00000174189]
|
| AlphaFold |
Q3URK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050826
AA Change: E1735Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: E1735Q
| 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: E156Q
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134328
Gene: ENSMUSG00000047146
AA Change: E156Q
| 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: E1767Q
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: E1767Q
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
C |
T |
4: 126,337,019 (GRCm39) |
V533I |
probably benign |
Het |
| Akap3 |
A |
T |
6: 126,842,736 (GRCm39) |
T452S |
probably damaging |
Het |
| Angpt1 |
C |
T |
15: 42,301,699 (GRCm39) |
M436I |
probably benign |
Het |
| B3galt4 |
T |
C |
17: 34,169,797 (GRCm39) |
K147R |
probably damaging |
Het |
| Birc6 |
C |
A |
17: 74,910,080 (GRCm39) |
T1491K |
probably damaging |
Het |
| Boll |
T |
C |
1: 55,394,881 (GRCm39) |
|
probably benign |
Het |
| C6 |
T |
C |
15: 4,764,675 (GRCm39) |
F124L |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,163,281 (GRCm39) |
Y436C |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,823,356 (GRCm39) |
N1684S |
probably benign |
Het |
| Cflar |
T |
C |
1: 58,791,981 (GRCm39) |
L428P |
|
Het |
| Clk4 |
T |
C |
11: 51,168,716 (GRCm39) |
I363T |
probably benign |
Het |
| Cnst |
A |
G |
1: 179,434,002 (GRCm39) |
T273A |
probably benign |
Het |
| Col5a1 |
C |
T |
2: 27,852,141 (GRCm39) |
A546V |
possibly damaging |
Het |
| Col6a6 |
T |
A |
9: 105,659,146 (GRCm39) |
N600Y |
probably benign |
Het |
| Cxadr |
A |
G |
16: 78,130,301 (GRCm39) |
N156S |
probably benign |
Het |
| Diaph1 |
C |
T |
18: 38,024,850 (GRCm39) |
G537E |
unknown |
Het |
| Dmxl1 |
T |
A |
18: 50,011,500 (GRCm39) |
V1219D |
probably damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,726,001 (GRCm39) |
Y95* |
probably null |
Het |
| Dnajc5g |
A |
G |
5: 31,269,029 (GRCm39) |
T137A |
probably benign |
Het |
| Dpy19l3 |
G |
A |
7: 35,429,173 (GRCm39) |
T89M |
probably damaging |
Het |
| Dusp19 |
C |
A |
2: 80,447,828 (GRCm39) |
T34N |
probably benign |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Enpp1 |
A |
G |
10: 24,555,142 (GRCm39) |
V68A |
possibly damaging |
Het |
| Epha7 |
T |
A |
4: 28,821,022 (GRCm39) |
D62E |
probably damaging |
Het |
| Frmd4b |
A |
T |
6: 97,283,674 (GRCm39) |
V445E |
probably benign |
Het |
| Gp9 |
A |
C |
6: 87,756,336 (GRCm39) |
D117A |
probably benign |
Het |
| Haao |
T |
C |
17: 84,142,649 (GRCm39) |
E152G |
possibly damaging |
Het |
| Ift70a2 |
A |
G |
2: 75,806,997 (GRCm39) |
V505A |
probably damaging |
Het |
| Ighd |
A |
G |
12: 113,379,789 (GRCm39) |
S52P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,358,255 (GRCm39) |
K361E |
probably benign |
Het |
| Lgi2 |
T |
A |
5: 52,704,013 (GRCm39) |
E206V |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,754,749 (GRCm39) |
V220E |
probably benign |
Het |
| Moxd1 |
G |
T |
10: 24,128,848 (GRCm39) |
G200C |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,923,417 (GRCm39) |
Q55K |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,260,260 (GRCm39) |
L672M |
probably damaging |
Het |
| Npvf |
A |
C |
6: 50,631,349 (GRCm39) |
F9V |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,179,104 (GRCm39) |
|
probably null |
Het |
| Nup43 |
T |
C |
10: 7,546,713 (GRCm39) |
V111A |
probably benign |
Het |
| Obscn |
C |
T |
11: 59,026,516 (GRCm39) |
R229H |
probably benign |
Het |
| Olfml2a |
C |
A |
2: 38,847,766 (GRCm39) |
R442S |
probably damaging |
Het |
| Or10j2 |
A |
G |
1: 173,098,552 (GRCm39) |
D270G |
probably benign |
Het |
| Or2ag16 |
C |
A |
7: 106,352,008 (GRCm39) |
E196* |
probably null |
Het |
| Or4c120 |
T |
A |
2: 89,001,284 (GRCm39) |
I91F |
probably damaging |
Het |
| Or5b12b |
T |
A |
19: 12,861,980 (GRCm39) |
V245E |
probably benign |
Het |
| Or9s13 |
T |
A |
1: 92,547,806 (GRCm39) |
D59E |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,398 (GRCm39) |
F135S |
probably damaging |
Het |
| Pde4a |
A |
T |
9: 21,122,065 (GRCm39) |
I654F |
probably damaging |
Het |
| Pip5kl1 |
G |
A |
2: 32,473,440 (GRCm39) |
R359Q |
possibly damaging |
Het |
| Ppp2ca |
T |
C |
11: 52,010,124 (GRCm39) |
V244A |
possibly damaging |
Het |
| Qrich1 |
T |
A |
9: 108,411,627 (GRCm39) |
L384H |
possibly damaging |
Het |
| Rab4a |
T |
C |
8: 124,554,135 (GRCm39) |
V62A |
possibly damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,513,261 (GRCm39) |
L217P |
probably damaging |
Het |
| Rhebl1 |
C |
T |
15: 98,776,405 (GRCm39) |
A131T |
probably benign |
Het |
| Rnf150 |
A |
T |
8: 83,590,546 (GRCm39) |
|
probably benign |
Het |
| Slc32a1 |
G |
A |
2: 158,456,685 (GRCm39) |
A447T |
probably damaging |
Het |
| Spag5 |
T |
A |
11: 78,192,803 (GRCm39) |
M45K |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,928,705 (GRCm39) |
N88D |
probably damaging |
Het |
| Spred2 |
C |
A |
11: 19,958,422 (GRCm39) |
T128N |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,030,471 (GRCm39) |
E776G |
possibly damaging |
Het |
| Tmc1 |
T |
C |
19: 20,845,725 (GRCm39) |
N166S |
probably benign |
Het |
| Trim43a |
C |
A |
9: 88,464,490 (GRCm39) |
Q134K |
possibly damaging |
Het |
| Tsks |
A |
T |
7: 44,607,305 (GRCm39) |
M543L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,574,181 (GRCm39) |
K25571E |
probably damaging |
Het |
| Vamp5 |
C |
A |
6: 72,357,436 (GRCm39) |
|
probably benign |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,462 (GRCm39) |
Q287L |
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,062,682 (GRCm39) |
V517E |
unknown |
Het |
| Zfp467 |
A |
T |
6: 48,414,959 (GRCm39) |
H564Q |
probably damaging |
Het |
| Zfp51 |
G |
A |
17: 21,684,294 (GRCm39) |
C303Y |
probably 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 |
|
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 |
|
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'- TCAGCATGAACGGGAGAATC -3'
(R):5'- GGTGCCAAATAGCTTCTGTG -3'
Sequencing Primer
(F):5'- TGAGGATGAGCAGCCACCTC -3'
(R):5'- CAAATAGCTTCTGTGGTTGTTTTCAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation