Incidental Mutation 'R0445:Tet1'
| ID |
39324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet1
|
| Ensembl Gene |
ENSMUSG00000047146 |
| Gene Name |
tet methylcytosine dioxygenase 1 |
| Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
| MMRRC Submission |
038646-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0445 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62715720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 25
(M25T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
[ENSMUST00000218438]
[ENSMUST00000218782]
[ENSMUST00000227494]
[ENSMUST00000228901]
|
| AlphaFold |
Q3URK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050826
AA Change: M25T
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: M25T
| 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: ENSMUST00000174189
AA Change: M25T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: M25T
| 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 |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218438
AA Change: M25T
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218782
AA Change: M25T
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227494
AA Change: M25T
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228901
AA Change: M25T
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| Validation Efficiency |
100% (77/77) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
A |
C |
17: 48,400,542 (GRCm39) |
|
probably null |
Het |
| A2m |
C |
T |
6: 121,634,914 (GRCm39) |
T687I |
probably damaging |
Het |
| Acsbg1 |
A |
G |
9: 54,523,179 (GRCm39) |
S483P |
probably damaging |
Het |
| Adam22 |
T |
A |
5: 8,230,591 (GRCm39) |
|
probably benign |
Het |
| Aggf1 |
A |
G |
13: 95,490,509 (GRCm39) |
V595A |
possibly damaging |
Het |
| Aplf |
A |
T |
6: 87,640,734 (GRCm39) |
L71I |
probably damaging |
Het |
| Arid3c |
G |
T |
4: 41,725,172 (GRCm39) |
P292T |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,054,214 (GRCm39) |
V3111A |
probably damaging |
Het |
| Brms1l |
T |
A |
12: 55,908,191 (GRCm39) |
Y213* |
probably null |
Het |
| C87436 |
T |
A |
6: 86,426,832 (GRCm39) |
S332T |
possibly damaging |
Het |
| Cad |
G |
A |
5: 31,230,053 (GRCm39) |
A1454T |
probably benign |
Het |
| Cdkn3 |
T |
C |
14: 47,004,857 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
G |
8: 96,486,836 (GRCm39) |
C624R |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,411,738 (GRCm39) |
I541F |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,095,503 (GRCm39) |
|
probably benign |
Het |
| Dscam |
A |
T |
16: 96,573,703 (GRCm39) |
I753N |
probably damaging |
Het |
| Eef2 |
C |
CN |
10: 81,014,604 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
A |
18: 78,057,399 (GRCm39) |
V1826D |
possibly damaging |
Het |
| Epha8 |
T |
C |
4: 136,659,711 (GRCm39) |
Y755C |
probably damaging |
Het |
| Esco1 |
A |
T |
18: 10,574,989 (GRCm39) |
N694K |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,980,667 (GRCm39) |
H300R |
probably benign |
Het |
| Galnt5 |
C |
A |
2: 57,888,962 (GRCm39) |
F187L |
probably benign |
Het |
| Gm17067 |
A |
G |
7: 42,358,046 (GRCm39) |
I152T |
probably benign |
Het |
| Gnb3 |
T |
C |
6: 124,814,218 (GRCm39) |
D154G |
possibly damaging |
Het |
| Gpr155 |
G |
A |
2: 73,200,488 (GRCm39) |
|
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,076,777 (GRCm39) |
I240T |
probably damaging |
Het |
| Ifitm1 |
A |
T |
7: 140,548,354 (GRCm39) |
|
probably null |
Het |
| Kif1b |
A |
T |
4: 149,272,466 (GRCm39) |
L1455Q |
probably benign |
Het |
| Krt1 |
A |
C |
15: 101,756,056 (GRCm39) |
L388R |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,426,505 (GRCm39) |
K635* |
probably null |
Het |
| Map3k2 |
A |
G |
18: 32,350,263 (GRCm39) |
Y371C |
probably damaging |
Het |
| Mcu |
T |
C |
10: 59,292,467 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
C |
T |
6: 39,381,788 (GRCm39) |
V167I |
probably benign |
Het |
| Mrpl9 |
T |
A |
3: 94,352,198 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,395 (GRCm39) |
Y547C |
possibly damaging |
Het |
| Nup88 |
G |
A |
11: 70,838,555 (GRCm39) |
T487I |
probably benign |
Het |
| Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,890,161 (GRCm39) |
R7457H |
unknown |
Het |
| Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
| Or2y13 |
T |
A |
11: 49,414,784 (GRCm39) |
V78E |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,095,113 (GRCm39) |
S118P |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,840,205 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,178,381 (GRCm39) |
Y157F |
probably damaging |
Het |
| Pex10 |
G |
A |
4: 155,153,531 (GRCm39) |
|
probably null |
Het |
| Phrf1 |
C |
T |
7: 140,827,244 (GRCm39) |
|
probably benign |
Het |
| Polr3a |
G |
T |
14: 24,504,989 (GRCm39) |
D1090E |
probably benign |
Het |
| Ppfia4 |
A |
C |
1: 134,255,027 (GRCm39) |
L276R |
probably benign |
Het |
| Rdh16f1 |
T |
C |
10: 127,626,736 (GRCm39) |
L263S |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,696,399 (GRCm39) |
D967G |
probably benign |
Het |
| Shc1 |
G |
T |
3: 89,333,844 (GRCm39) |
A226S |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,245,192 (GRCm39) |
V585A |
probably benign |
Het |
| Stk38l |
T |
A |
6: 146,677,184 (GRCm39) |
S461T |
probably benign |
Het |
| Tbkbp1 |
A |
T |
11: 97,040,295 (GRCm39) |
S40T |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,658,007 (GRCm39) |
R192G |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,732,661 (GRCm39) |
T206A |
probably benign |
Het |
| Tmem74b |
G |
A |
2: 151,548,879 (GRCm39) |
R202H |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,894,590 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,230,785 (GRCm39) |
H557R |
probably benign |
Het |
| Zbtb12 |
C |
A |
17: 35,115,277 (GRCm39) |
A354E |
possibly damaging |
Het |
| Zfp143 |
A |
T |
7: 109,660,324 (GRCm39) |
|
probably benign |
Het |
| Zftraf1 |
T |
C |
15: 76,532,457 (GRCm39) |
H217R |
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 |
|
|
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 |
|
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'- TCGCCAGCTAAGAGAGGTTCTTCG -3'
(R):5'- AGCTTGGCAACACCTCCAGATTC -3'
Sequencing Primer
(F):5'- GAGCCATTGTAAACCCGTTG -3'
(R):5'- TCCAGATTCTCCTCAAAAGGAAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation