Incidental Mutation 'R7210:Tet1'
ID |
561009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
045239-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7210 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62650280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 14
(C14S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174121]
[ENSMUST00000174189]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000050826
AA Change: C1611S
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: C1611S
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 null
Transcript: ENSMUST00000173087
AA Change: C13S
|
SMART Domains |
Protein: ENSMUSP00000133706 Gene: ENSMUSG00000047146 AA Change: C13S
Domain | Start | End | E-Value | Type |
Tet_JBP
|
2 |
138 |
2.64e-3 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000134571 Gene: ENSMUSG00000047146 AA Change: C14S
Domain | Start | End | E-Value | Type |
Pfam:Tet_JBP
|
1 |
61 |
2.4e-20 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174121
AA Change: C14S
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000134328 Gene: ENSMUSG00000047146 AA Change: C14S
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 null
Transcript: ENSMUST00000174189
AA Change: C1643S
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: C1643S
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: 98.9%
|
Validation Efficiency |
100% (60/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
G |
A |
11: 94,264,767 (GRCm39) |
P194S |
probably benign |
Het |
Ackr2 |
C |
T |
9: 121,737,943 (GRCm39) |
A106V |
possibly damaging |
Het |
Alg3 |
G |
A |
16: 20,424,644 (GRCm39) |
P112L |
unknown |
Het |
Areg |
T |
A |
5: 91,288,764 (GRCm39) |
Y23* |
probably null |
Het |
Aspn |
A |
G |
13: 49,719,967 (GRCm39) |
T328A |
probably benign |
Het |
B020011L13Rik |
A |
T |
1: 117,729,241 (GRCm39) |
E249D |
possibly damaging |
Het |
Bptf |
G |
A |
11: 106,945,290 (GRCm39) |
Q2650* |
probably null |
Het |
Btbd3 |
A |
T |
2: 138,125,664 (GRCm39) |
R283W |
probably damaging |
Het |
Cep131 |
T |
C |
11: 119,955,615 (GRCm39) |
H1035R |
probably damaging |
Het |
Cfap57 |
A |
T |
4: 118,433,900 (GRCm39) |
Y959* |
probably null |
Het |
Cnot1 |
T |
C |
8: 96,515,286 (GRCm39) |
Y25C |
probably damaging |
Het |
Crebbp |
G |
A |
16: 3,902,121 (GRCm39) |
H2373Y |
possibly damaging |
Het |
Ctnna3 |
T |
C |
10: 64,086,547 (GRCm39) |
L373P |
probably damaging |
Het |
Cyp8b1 |
T |
A |
9: 121,744,246 (GRCm39) |
D362V |
probably damaging |
Het |
D630003M21Rik |
T |
A |
2: 158,057,932 (GRCm39) |
|
probably null |
Het |
Dpp6 |
T |
C |
5: 27,803,801 (GRCm39) |
I249T |
probably damaging |
Het |
Fam149b |
T |
G |
14: 20,428,540 (GRCm39) |
I475M |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,476,540 (GRCm39) |
Y1862C |
probably damaging |
Het |
Fcrl5 |
A |
T |
3: 87,353,719 (GRCm39) |
N355Y |
possibly damaging |
Het |
Fgd6 |
C |
T |
10: 93,969,954 (GRCm39) |
T1201I |
probably damaging |
Het |
Fndc8 |
A |
T |
11: 82,788,692 (GRCm39) |
D174V |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,481,527 (GRCm39) |
H26R |
probably benign |
Het |
Gm37240 |
T |
A |
3: 84,405,114 (GRCm39) |
T230S |
probably benign |
Het |
Gria4 |
T |
C |
9: 4,464,135 (GRCm39) |
Q609R |
probably damaging |
Het |
Gse1 |
C |
A |
8: 120,957,441 (GRCm39) |
T644K |
unknown |
Het |
Ifit1bl1 |
T |
G |
19: 34,571,564 (GRCm39) |
I298L |
probably benign |
Het |
Il31ra |
T |
C |
13: 112,686,034 (GRCm39) |
D85G |
possibly damaging |
Het |
Katnip |
T |
C |
7: 125,471,411 (GRCm39) |
V1504A |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,831,568 (GRCm39) |
L1664P |
probably damaging |
Het |
Mrpl35 |
A |
G |
6: 71,794,722 (GRCm39) |
L82S |
possibly damaging |
Het |
Myo7b |
G |
A |
18: 32,140,155 (GRCm39) |
R212C |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,154,114 (GRCm39) |
V684A |
probably damaging |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nop58 |
G |
T |
1: 59,749,539 (GRCm39) |
|
probably null |
Het |
Nudt13 |
T |
A |
14: 20,359,852 (GRCm39) |
I193N |
possibly damaging |
Het |
Nyap1 |
C |
A |
5: 137,736,244 (GRCm39) |
R81L |
probably damaging |
Het |
Or1e28-ps1 |
T |
C |
11: 73,615,699 (GRCm39) |
I50M |
possibly damaging |
Het |
Oxct2b |
A |
C |
4: 123,010,069 (GRCm39) |
|
probably benign |
Het |
Pcf11 |
C |
T |
7: 92,312,684 (GRCm39) |
A230T |
probably benign |
Het |
Phactr4 |
A |
T |
4: 132,085,582 (GRCm39) |
*695R |
probably null |
Het |
Pkd1 |
T |
C |
17: 24,794,840 (GRCm39) |
S2176P |
probably damaging |
Het |
Plch2 |
C |
A |
4: 155,093,543 (GRCm39) |
R133L |
probably damaging |
Het |
Ptprq |
G |
T |
10: 107,521,032 (GRCm39) |
N713K |
probably damaging |
Het |
Ptrh2 |
A |
T |
11: 86,580,793 (GRCm39) |
T137S |
probably benign |
Het |
R3hdm1 |
A |
G |
1: 128,138,945 (GRCm39) |
Y718C |
possibly damaging |
Het |
Rftn1 |
T |
A |
17: 50,301,335 (GRCm39) |
R505* |
probably null |
Het |
Rps15a |
A |
G |
7: 117,708,334 (GRCm39) |
F128L |
probably benign |
Het |
Slc25a25 |
A |
T |
2: 32,310,408 (GRCm39) |
M177K |
possibly damaging |
Het |
Smgc |
C |
A |
15: 91,744,492 (GRCm39) |
P631Q |
probably damaging |
Het |
Sox2 |
T |
C |
3: 34,705,306 (GRCm39) |
S248P |
probably damaging |
Het |
Sycp1 |
T |
C |
3: 102,760,808 (GRCm39) |
K702E |
probably damaging |
Het |
Tes |
G |
T |
6: 17,104,761 (GRCm39) |
C414F |
probably damaging |
Het |
Tle3 |
C |
T |
9: 61,319,587 (GRCm39) |
P452S |
probably damaging |
Het |
Tmc6 |
A |
C |
11: 117,666,670 (GRCm39) |
L131R |
possibly damaging |
Het |
Tnip3 |
C |
T |
6: 65,570,495 (GRCm39) |
R30* |
probably null |
Het |
Tnrc6b |
G |
T |
15: 80,813,486 (GRCm39) |
G1748W |
probably damaging |
Het |
Ugt2b38 |
T |
G |
5: 87,558,284 (GRCm39) |
D459A |
probably damaging |
Het |
Zdhhc2 |
A |
T |
8: 40,920,480 (GRCm39) |
R246S |
probably damaging |
Het |
Zscan22 |
T |
A |
7: 12,640,748 (GRCm39) |
C331S |
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 |
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'- TGGGATTAAAGCCTTGTCCAAC -3'
(R):5'- CCGGCATCTGAACATGTGTG -3'
Sequencing Primer
(F):5'- CTGGCTGCCTTCAGATCAAAATG -3'
(R):5'- TGTGCATGCTGTACACAGAC -3'
|
Posted On |
2019-06-26 |