Incidental Mutation 'R3972:Tet1'
ID |
311031 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
040840-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3972 (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 62649505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 67
(E67D)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174121]
[ENSMUST00000174189]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050826
AA Change: E1665D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: E1665D
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: ENSMUST00000173087
AA Change: E67D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133706 Gene: ENSMUSG00000047146 AA Change: E67D
Domain | Start | End | E-Value | Type |
Tet_JBP
|
2 |
138 |
2.64e-3 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000173905
AA Change: N61I
|
SMART Domains |
Protein: ENSMUSP00000134571 Gene: ENSMUSG00000047146 AA Change: N61I
Domain | Start | End | E-Value | Type |
Pfam:Tet_JBP
|
1 |
61 |
2.4e-20 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000174121
AA Change: E68D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134328 Gene: ENSMUSG00000047146 AA Change: E68D
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: E1697D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: E1697D
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: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alk |
T |
G |
17: 72,292,442 (GRCm39) |
D512A |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,720,393 (GRCm39) |
F477S |
probably damaging |
Het |
C7 |
C |
T |
15: 5,037,133 (GRCm39) |
V582I |
possibly damaging |
Het |
Cldn20 |
A |
G |
17: 3,582,914 (GRCm39) |
N29S |
probably benign |
Het |
Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
Dnah3 |
T |
A |
7: 119,685,943 (GRCm39) |
D131V |
probably damaging |
Het |
Dusp12 |
T |
C |
1: 170,707,344 (GRCm39) |
K248R |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fgf1 |
T |
C |
18: 38,980,147 (GRCm39) |
T76A |
probably benign |
Het |
Gucy2c |
C |
T |
6: 136,685,364 (GRCm39) |
R859K |
probably damaging |
Het |
Irf2bp1 |
T |
A |
7: 18,739,369 (GRCm39) |
D336E |
possibly damaging |
Het |
Lpar6 |
A |
G |
14: 73,476,513 (GRCm39) |
H158R |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Lyst |
T |
C |
13: 13,881,210 (GRCm39) |
C2814R |
possibly damaging |
Het |
Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
Mrpl16 |
A |
G |
19: 11,750,239 (GRCm39) |
N41S |
probably benign |
Het |
Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
Nudt9 |
G |
T |
5: 104,194,991 (GRCm39) |
C29F |
probably benign |
Het |
Or4d11 |
G |
T |
19: 12,013,383 (GRCm39) |
T241N |
probably damaging |
Het |
Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
Otp |
T |
G |
13: 95,019,692 (GRCm39) |
L181R |
probably damaging |
Het |
Pde4a |
A |
G |
9: 21,117,513 (GRCm39) |
T592A |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,111,739 (GRCm39) |
Y1579H |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,319,224 (GRCm39) |
V864A |
probably benign |
Het |
Reln |
A |
T |
5: 22,183,999 (GRCm39) |
F1667I |
probably damaging |
Het |
Serpinb10 |
T |
A |
1: 107,463,852 (GRCm39) |
F45I |
probably damaging |
Het |
Setdb1 |
A |
T |
3: 95,248,649 (GRCm39) |
N422K |
probably damaging |
Het |
Slc17a7 |
A |
G |
7: 44,819,334 (GRCm39) |
I137V |
possibly damaging |
Het |
Tpcn1 |
C |
A |
5: 120,691,817 (GRCm39) |
|
probably null |
Het |
Trav9-4 |
T |
C |
14: 53,913,877 (GRCm39) |
Y44H |
possibly damaging |
Het |
Trmt1l |
A |
G |
1: 151,309,634 (GRCm39) |
N106D |
possibly damaging |
Het |
Ttll12 |
A |
T |
15: 83,466,297 (GRCm39) |
L388Q |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubfd1 |
T |
G |
7: 121,666,656 (GRCm39) |
S51A |
probably benign |
Het |
Uckl1 |
T |
C |
2: 181,216,256 (GRCm39) |
D148G |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,407,803 (GRCm39) |
L2571S |
probably damaging |
Het |
Wdr75 |
T |
C |
1: 45,861,714 (GRCm39) |
V718A |
probably benign |
Het |
Zfp266 |
A |
G |
9: 20,411,446 (GRCm39) |
S244P |
probably damaging |
Het |
Zfp979 |
G |
A |
4: 147,702,876 (GRCm39) |
Q25* |
probably null |
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 |
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'- AAGCTATTTGGCACCTGGG -3'
(R):5'- TATATGAGTCTAAGGGGCCAGG -3'
Sequencing Primer
(F):5'- GCTGGCAGAGATCCTCTTC -3'
(R):5'- AGTCTAAGGGGCCAGGTTGTTG -3'
|
Posted On |
2015-04-29 |