Incidental Mutation 'R9173:Tet1'
| ID |
696542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet1
|
| Ensembl Gene |
ENSMUSG00000047146 |
| Gene Name |
tet methylcytosine dioxygenase 1 |
| Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
| MMRRC Submission |
068947-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9173 (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 62676065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 670
(D670E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
|
| AlphaFold |
Q3URK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050826
AA Change: D670E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: D670E
| 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: D670E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: D670E
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1a |
G |
T |
9: 119,170,190 (GRCm39) |
|
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,710,564 (GRCm39) |
T79A |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,699,649 (GRCm39) |
R634Q |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,896,939 (GRCm39) |
D753G |
probably damaging |
Het |
| Cyp51 |
T |
C |
5: 4,136,504 (GRCm39) |
N430S |
probably benign |
Het |
| Dnajc17 |
A |
T |
2: 119,009,894 (GRCm39) |
V244D |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,171,379 (GRCm39) |
K1796E |
probably benign |
Het |
| Eftud2 |
A |
T |
11: 102,734,242 (GRCm39) |
V659E |
probably damaging |
Het |
| Ercc4 |
G |
A |
16: 12,939,973 (GRCm39) |
A168T |
possibly damaging |
Het |
| Exd2 |
T |
C |
12: 80,536,236 (GRCm39) |
Y289H |
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,169,763 (GRCm39) |
V2999L |
probably damaging |
Het |
| Fgd5 |
T |
C |
6: 92,044,584 (GRCm39) |
|
probably null |
Het |
| Fkbp9 |
T |
C |
6: 56,850,389 (GRCm39) |
S422P |
possibly damaging |
Het |
| H2bc21 |
T |
C |
3: 96,128,615 (GRCm39) |
V45A |
possibly damaging |
Het |
| H2-Eb2 |
A |
G |
17: 34,552,491 (GRCm39) |
D112G |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,856,350 (GRCm39) |
R3929S |
probably damaging |
Het |
| Hrc |
G |
A |
7: 44,986,799 (GRCm39) |
|
probably null |
Het |
| Ighv5-8 |
T |
A |
12: 113,618,681 (GRCm39) |
V32D |
probably benign |
Het |
| Itgal |
G |
T |
7: 126,896,789 (GRCm39) |
|
probably null |
Het |
| Jcad |
T |
A |
18: 4,675,820 (GRCm39) |
V1194E |
probably benign |
Het |
| Kat8 |
A |
G |
7: 127,511,863 (GRCm39) |
T54A |
probably benign |
Het |
| Kcnu1 |
G |
A |
8: 26,390,074 (GRCm39) |
|
probably null |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,076,597 (GRCm39) |
T1124A |
|
Het |
| Lrp2 |
T |
A |
2: 69,299,731 (GRCm39) |
D3107V |
probably damaging |
Het |
| Map6 |
G |
A |
7: 98,917,935 (GRCm39) |
R236H |
probably damaging |
Het |
| Mycbpap |
T |
A |
11: 94,397,209 (GRCm39) |
N64I |
probably damaging |
Het |
| Nop14 |
A |
G |
5: 34,806,776 (GRCm39) |
S443P |
probably damaging |
Het |
| Nxn |
T |
C |
11: 76,149,560 (GRCm39) |
D380G |
possibly damaging |
Het |
| Or1e28-ps1 |
T |
A |
11: 73,615,734 (GRCm39) |
I39F |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,526,958 (GRCm39) |
M1390L |
probably benign |
Het |
| Pcyox1l |
A |
G |
18: 61,830,663 (GRCm39) |
L403P |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,384,152 (GRCm39) |
S1181G |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,220,520 (GRCm39) |
I76N |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,678,128 (GRCm39) |
E1151G |
probably benign |
Het |
| Rnft1 |
T |
C |
11: 86,377,001 (GRCm39) |
S22P |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,529,147 (GRCm39) |
T733A |
possibly damaging |
Het |
| Serpina1c |
A |
G |
12: 103,862,328 (GRCm39) |
I329T |
possibly damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,761,299 (GRCm39) |
D438G |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,377,285 (GRCm39) |
C438Y |
probably damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,220,753 (GRCm39) |
I566F |
possibly damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,430 (GRCm39) |
E534V |
probably benign |
Het |
| Spata7 |
T |
A |
12: 98,603,853 (GRCm39) |
S73R |
probably damaging |
Het |
| Stau2 |
G |
A |
1: 16,444,933 (GRCm39) |
R332* |
probably null |
Het |
| Sytl3 |
T |
C |
17: 7,000,471 (GRCm39) |
F419L |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,516,598 (GRCm39) |
R202G |
possibly damaging |
Het |
| Tubal3 |
A |
T |
13: 3,983,050 (GRCm39) |
T277S |
possibly damaging |
Het |
| Ube4b |
A |
G |
4: 149,415,933 (GRCm39) |
F1054L |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,177,421 (GRCm39) |
Q2750K |
unknown |
Het |
| Usp29 |
T |
C |
7: 6,964,636 (GRCm39) |
S160P |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,510,527 (GRCm39) |
I651N |
probably damaging |
Het |
| Ypel1 |
A |
T |
16: 16,915,298 (GRCm39) |
C103* |
probably null |
Het |
| Zfp11 |
A |
T |
5: 129,734,891 (GRCm39) |
I190N |
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 |
|
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 |
|
|
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'- TCCTTATGGTCTGGGCAAATGTC -3'
(R):5'- AGTGGGAGCCTAGCAACAAC -3'
Sequencing Primer
(F):5'- TTTGCTGCTTGTCATCTTCAGAG -3'
(R):5'- GGAGCCTAGCAACAACAACCAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation