Incidental Mutation 'R7879:Tet1'
| ID |
608652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet1
|
| Ensembl Gene |
ENSMUSG00000047146 |
| Gene Name |
tet methylcytosine dioxygenase 1 |
| Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
| MMRRC Submission |
045931-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7879 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 62714825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 323
(D323E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133279
(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: D323E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: D323E
| 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: D323E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: D323E
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
C |
5: 146,439,662 (GRCm39) |
I81T |
probably benign |
Het |
| Acnat2 |
G |
A |
4: 49,383,299 (GRCm39) |
P85S |
probably damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,286,223 (GRCm39) |
V74M |
probably damaging |
Het |
| Alb |
C |
A |
5: 90,620,507 (GRCm39) |
T539K |
probably benign |
Het |
| B4galnt2 |
G |
A |
11: 95,760,223 (GRCm39) |
T268I |
possibly damaging |
Het |
| Bcl7b |
G |
A |
5: 135,205,986 (GRCm39) |
E58K |
possibly damaging |
Het |
| Calr3 |
C |
T |
8: 73,178,487 (GRCm39) |
S372N |
unknown |
Het |
| Cdcp3 |
T |
A |
7: 130,844,871 (GRCm39) |
V588E |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,875,047 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
A |
C |
1: 109,976,677 (GRCm39) |
E114A |
probably benign |
Het |
| Cep70 |
A |
G |
9: 99,144,686 (GRCm39) |
R74G |
possibly damaging |
Het |
| Chrna6 |
A |
G |
8: 27,897,109 (GRCm39) |
F256S |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,984,551 (GRCm39) |
T996A |
probably benign |
Het |
| Clstn2 |
A |
G |
9: 97,351,817 (GRCm39) |
V536A |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,441,820 (GRCm39) |
M348K |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 118,004,744 (GRCm39) |
D2192E |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,352,646 (GRCm39) |
I2600V |
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,785,700 (GRCm39) |
S185A |
probably benign |
Het |
| Dock4 |
A |
T |
12: 40,780,083 (GRCm39) |
D628V |
possibly damaging |
Het |
| Dzank1 |
A |
T |
2: 144,333,718 (GRCm39) |
S371T |
probably benign |
Het |
| Fam83b |
A |
T |
9: 76,399,737 (GRCm39) |
N455K |
possibly damaging |
Het |
| Fcrlb |
T |
C |
1: 170,736,365 (GRCm39) |
Y137C |
probably damaging |
Het |
| Gtf2i |
G |
A |
5: 134,295,471 (GRCm39) |
T327M |
possibly damaging |
Het |
| Hspa5 |
T |
A |
2: 34,665,941 (GRCm39) |
M595K |
probably benign |
Het |
| Htt |
C |
T |
5: 34,981,252 (GRCm39) |
A875V |
probably benign |
Het |
| Hvcn1 |
G |
A |
5: 122,376,701 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,238,145 (GRCm39) |
S679P |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,751,265 (GRCm39) |
H1285R |
probably benign |
Het |
| Kcnq4 |
T |
C |
4: 120,559,632 (GRCm39) |
T523A |
probably benign |
Het |
| Kif6 |
T |
A |
17: 50,139,214 (GRCm39) |
I562N |
probably benign |
Het |
| Klhl9 |
C |
A |
4: 88,638,575 (GRCm39) |
W555C |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,624 (GRCm39) |
T423A |
probably benign |
Het |
| Mapk10 |
C |
T |
5: 103,111,362 (GRCm39) |
V391I |
probably benign |
Het |
| Noa1 |
T |
C |
5: 77,445,044 (GRCm39) |
M592V |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,133,968 (GRCm39) |
M275T |
possibly damaging |
Het |
| Nuak2 |
T |
A |
1: 132,259,695 (GRCm39) |
V499E |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,185 (GRCm39) |
C252* |
probably null |
Het |
| Or6c213 |
T |
C |
10: 129,574,559 (GRCm39) |
I76V |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,612,970 (GRCm39) |
E2052G |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,198,670 (GRCm39) |
C253S |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,727,228 (GRCm39) |
S2029P |
unknown |
Het |
| Plekhg3 |
A |
G |
12: 76,612,343 (GRCm39) |
I401M |
probably damaging |
Het |
| Polg |
A |
T |
7: 79,100,392 (GRCm39) |
C1140S |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,962,817 (GRCm39) |
L62H |
probably damaging |
Het |
| Psmf1 |
T |
A |
2: 151,576,163 (GRCm39) |
E115V |
probably benign |
Het |
| Ptpn9 |
A |
T |
9: 56,964,010 (GRCm39) |
N381I |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,465,979 (GRCm39) |
S1234P |
probably benign |
Het |
| Qrich1 |
A |
G |
9: 108,436,485 (GRCm39) |
T728A |
possibly damaging |
Het |
| Ralgps2 |
C |
A |
1: 156,656,636 (GRCm39) |
A323S |
probably benign |
Het |
| Rimbp3 |
T |
C |
16: 17,028,910 (GRCm39) |
V778A |
possibly damaging |
Het |
| Scn1a |
A |
T |
2: 66,116,349 (GRCm39) |
L430* |
probably null |
Het |
| Sema7a |
A |
T |
9: 57,862,363 (GRCm39) |
I189F |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,571,386 (GRCm39) |
I39T |
probably benign |
Het |
| Stap2 |
T |
C |
17: 56,309,023 (GRCm39) |
T115A |
probably benign |
Het |
| Stmn4 |
A |
G |
14: 66,595,388 (GRCm39) |
I138V |
probably benign |
Het |
| Suds3 |
C |
T |
5: 117,236,335 (GRCm39) |
|
probably null |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tia1 |
A |
G |
6: 86,401,347 (GRCm39) |
D140G |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,852,010 (GRCm39) |
R827H |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,625,397 (GRCm39) |
|
probably null |
Het |
| Unc80 |
T |
C |
1: 66,549,866 (GRCm39) |
V708A |
probably benign |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,772 (GRCm39) |
T130S |
probably benign |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,755 (GRCm39) |
C129R |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
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 |
|
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'- TGGTGAGTCTGAACCCTTGC -3'
(R):5'- TAGCAATCAGTTAGCAGACTTGAGC -3'
Sequencing Primer
(F):5'- AGTCTGAACCCTTGCCCAGG -3'
(R):5'- GCTCACAAGTAGAGTCTATCAAGCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation