Incidental Mutation 'IGL01634:Tet1'
| ID |
93532 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01634
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62714367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 476
(I476K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
[ENSMUST00000218438]
[ENSMUST00000218782]
[ENSMUST00000227494]
[ENSMUST00000228901]
|
| AlphaFold |
Q3URK3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050826
AA Change: I476K
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: I476K
| 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 |
possibly damaging
Transcript: ENSMUST00000174189
AA Change: I476K
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: I476K
| 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 |
probably benign
Transcript: ENSMUST00000218438
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218782
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227494
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228901
|
| Coding Region Coverage |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034H15Rik |
A |
T |
1: 191,633,016 (GRCm39) |
|
noncoding transcript |
Het |
| 4933421I07Rik |
C |
T |
7: 42,097,123 (GRCm39) |
D63N |
probably benign |
Het |
| Alg9 |
C |
A |
9: 50,686,677 (GRCm39) |
|
probably null |
Het |
| Anln |
T |
C |
9: 22,271,771 (GRCm39) |
T695A |
probably benign |
Het |
| Aox4 |
G |
T |
1: 58,261,089 (GRCm39) |
D141Y |
possibly damaging |
Het |
| Arhgap21 |
C |
A |
2: 20,919,455 (GRCm39) |
Q84H |
probably benign |
Het |
| Arnt |
G |
A |
3: 95,377,709 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,235,511 (GRCm39) |
Y677F |
probably benign |
Het |
| Car6 |
C |
T |
4: 150,282,610 (GRCm39) |
V12M |
probably benign |
Het |
| Cd209d |
A |
T |
8: 3,927,974 (GRCm39) |
|
probably null |
Het |
| Ctnna1 |
T |
A |
18: 35,356,501 (GRCm39) |
V390E |
probably damaging |
Het |
| Cypt4 |
T |
A |
9: 24,536,952 (GRCm39) |
N147K |
possibly damaging |
Het |
| Dnah10 |
C |
A |
5: 124,898,405 (GRCm39) |
A3729E |
probably damaging |
Het |
| Dusp8 |
A |
G |
7: 141,638,160 (GRCm39) |
V156A |
probably benign |
Het |
| Ecm1 |
G |
A |
3: 95,642,211 (GRCm39) |
P458L |
probably damaging |
Het |
| Fat3 |
T |
G |
9: 15,909,654 (GRCm39) |
Y2116S |
probably damaging |
Het |
| Fscn3 |
T |
A |
6: 28,430,537 (GRCm39) |
Y236N |
probably damaging |
Het |
| Gaa |
G |
A |
11: 119,164,902 (GRCm39) |
S265N |
possibly damaging |
Het |
| Gas7 |
T |
C |
11: 67,565,057 (GRCm39) |
|
probably benign |
Het |
| Gbp8 |
T |
C |
5: 105,166,438 (GRCm39) |
K297R |
probably damaging |
Het |
| Gm1818 |
G |
A |
12: 48,602,992 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5114 |
G |
T |
7: 39,058,071 (GRCm39) |
T516K |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,850,562 (GRCm39) |
S165P |
probably damaging |
Het |
| Hoxb4 |
G |
T |
11: 96,209,726 (GRCm39) |
R44L |
probably damaging |
Het |
| Ivd |
G |
A |
2: 118,706,863 (GRCm39) |
R285H |
probably damaging |
Het |
| Krtap20-2 |
T |
C |
16: 89,002,977 (GRCm39) |
F59S |
unknown |
Het |
| Megf8 |
G |
A |
7: 25,058,206 (GRCm39) |
|
probably benign |
Het |
| Mgat4d |
A |
T |
8: 84,094,745 (GRCm39) |
M261L |
possibly damaging |
Het |
| Mlc1 |
A |
T |
15: 88,858,921 (GRCm39) |
|
probably benign |
Het |
| Mmp20 |
T |
A |
9: 7,635,149 (GRCm39) |
Y43* |
probably null |
Het |
| Morc3 |
G |
A |
16: 93,670,125 (GRCm39) |
V767I |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,386,298 (GRCm39) |
T1808A |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,791,562 (GRCm39) |
F574L |
probably damaging |
Het |
| Npas3 |
G |
A |
12: 53,993,946 (GRCm39) |
V164M |
probably damaging |
Het |
| Nptx1 |
A |
G |
11: 119,435,498 (GRCm39) |
Y273H |
probably damaging |
Het |
| Oaf |
T |
C |
9: 43,135,301 (GRCm39) |
N159S |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,292 (GRCm39) |
F107L |
probably benign |
Het |
| Or4c111 |
T |
A |
2: 88,843,788 (GRCm39) |
I207F |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,260,783 (GRCm39) |
L130H |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,258,317 (GRCm39) |
F101L |
probably benign |
Het |
| Pkd1l3 |
A |
C |
8: 110,394,157 (GRCm39) |
|
probably null |
Het |
| Plcd1 |
C |
T |
9: 118,902,857 (GRCm39) |
R527H |
probably damaging |
Het |
| Rexo2 |
C |
T |
9: 48,380,215 (GRCm39) |
E206K |
probably damaging |
Het |
| Ropn1 |
C |
A |
16: 34,487,148 (GRCm39) |
T28N |
possibly damaging |
Het |
| Ropn1 |
A |
T |
16: 34,487,141 (GRCm39) |
I26F |
probably damaging |
Het |
| Rpgrip1l |
C |
A |
8: 91,979,171 (GRCm39) |
S998I |
probably benign |
Het |
| Rpgrip1l |
T |
A |
8: 91,979,172 (GRCm39) |
S998C |
probably benign |
Het |
| Scap |
T |
C |
9: 110,207,857 (GRCm39) |
|
probably null |
Het |
| Sec23b |
T |
C |
2: 144,401,150 (GRCm39) |
Y4H |
probably damaging |
Het |
| Sfrp4 |
C |
A |
13: 19,807,800 (GRCm39) |
D66E |
possibly damaging |
Het |
| Slc25a36 |
T |
C |
9: 96,962,534 (GRCm39) |
T13A |
probably benign |
Het |
| Synpr |
A |
T |
14: 13,608,576 (GRCm38) |
I119F |
possibly damaging |
Het |
| Tamm41 |
A |
C |
6: 114,993,059 (GRCm39) |
H109Q |
probably benign |
Het |
| Tg |
A |
T |
15: 66,601,415 (GRCm39) |
I142F |
probably benign |
Het |
| Thada |
A |
T |
17: 84,700,786 (GRCm39) |
|
probably null |
Het |
| Triobp |
T |
C |
15: 78,877,568 (GRCm39) |
L1654P |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,668,738 (GRCm39) |
V726A |
probably damaging |
Het |
| Txndc15 |
T |
G |
13: 55,869,438 (GRCm39) |
V197G |
probably damaging |
Het |
| Ubr3 |
A |
T |
2: 69,803,916 (GRCm39) |
T1169S |
probably benign |
Het |
| Uhmk1 |
C |
T |
1: 170,034,682 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,177 (GRCm39) |
M350K |
probably benign |
Het |
| Vmn2r77 |
G |
A |
7: 86,460,857 (GRCm39) |
V728I |
probably benign |
Het |
| Wipf1 |
G |
A |
2: 73,278,225 (GRCm39) |
P7S |
unknown |
Het |
| Zswim3 |
A |
G |
2: 164,661,922 (GRCm39) |
D134G |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation