Incidental Mutation 'R6041:Tet1'
| ID |
483558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet1
|
| Ensembl Gene |
ENSMUSG00000047146 |
| Gene Name |
tet methylcytosine dioxygenase 1 |
| Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
| MMRRC Submission |
044209-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6041 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 62649152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 149
(T149N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174121]
[ENSMUST00000174189]
|
| AlphaFold |
Q3URK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050826
AA Change: T1728N
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: T1728N
| 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: ENSMUST00000173087
|
| SMART Domains |
Protein: ENSMUSP00000133706
Gene: ENSMUSG00000047146
| Domain | Start | End | E-Value | Type |
|---|
|
Tet_JBP
|
2 |
138 |
2.64e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173905
|
| SMART Domains |
Protein: ENSMUSP00000134571
Gene: ENSMUSG00000047146
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tet_JBP
|
1 |
61 |
2.4e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174121
AA Change: T149N
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134328
Gene: ENSMUSG00000047146
AA Change: T149N
| 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 damaging
Transcript: ENSMUST00000174189
AA Change: T1760N
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: T1760N
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,595,354 (GRCm39) |
M297K |
probably damaging |
Het |
| Ace |
A |
C |
11: 105,866,134 (GRCm39) |
H34P |
probably benign |
Het |
| Agbl2 |
A |
T |
2: 90,638,371 (GRCm39) |
N652I |
probably benign |
Het |
| Auh |
T |
A |
13: 53,073,122 (GRCm39) |
L86F |
possibly damaging |
Het |
| Bmp10 |
A |
G |
6: 87,411,302 (GRCm39) |
K365R |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,764,314 (GRCm39) |
S2086T |
probably damaging |
Het |
| Calcoco1 |
C |
A |
15: 102,626,374 (GRCm39) |
R105L |
possibly damaging |
Het |
| Casc3 |
T |
G |
11: 98,719,385 (GRCm39) |
V509G |
probably damaging |
Het |
| Clmn |
A |
G |
12: 104,748,131 (GRCm39) |
V472A |
probably benign |
Het |
| Cyp2b19 |
A |
T |
7: 26,458,852 (GRCm39) |
S142C |
probably damaging |
Het |
| Derl3 |
T |
C |
10: 75,729,335 (GRCm39) |
L26P |
probably damaging |
Het |
| Dgkh |
C |
T |
14: 78,825,067 (GRCm39) |
A863T |
probably damaging |
Het |
| Dhx30 |
C |
T |
9: 109,913,666 (GRCm39) |
R1127Q |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,324,037 (GRCm39) |
S1116P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,328,805 (GRCm39) |
V3179A |
probably benign |
Het |
| Dnajb11 |
A |
T |
16: 22,687,471 (GRCm39) |
N156I |
probably benign |
Het |
| Dpep1 |
A |
T |
8: 123,927,394 (GRCm39) |
E316V |
probably damaging |
Het |
| Entrep1 |
A |
T |
19: 23,962,193 (GRCm39) |
M270K |
probably benign |
Het |
| F2rl2 |
T |
A |
13: 95,837,617 (GRCm39) |
F221I |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,127,668 (GRCm39) |
D173E |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,293,414 (GRCm39) |
D421E |
probably damaging |
Het |
| Gfm2 |
T |
A |
13: 97,309,131 (GRCm39) |
V612E |
probably benign |
Het |
| Gm17655 |
T |
G |
5: 110,195,439 (GRCm39) |
K114N |
possibly damaging |
Het |
| Gm45844 |
C |
A |
7: 7,281,183 (GRCm39) |
|
probably benign |
Het |
| Gpr142 |
A |
T |
11: 114,697,203 (GRCm39) |
I250F |
probably damaging |
Het |
| Hexa |
A |
G |
9: 59,470,519 (GRCm39) |
Q447R |
probably damaging |
Het |
| Leng8 |
T |
C |
7: 4,148,568 (GRCm39) |
L780P |
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 65,911,881 (GRCm39) |
D1893G |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,407,641 (GRCm39) |
I139F |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,313,621 (GRCm39) |
T22S |
probably benign |
Het |
| Mup-ps1 |
C |
A |
4: 60,088,549 (GRCm39) |
|
noncoding transcript |
Het |
| Myh13 |
A |
T |
11: 67,255,556 (GRCm39) |
E1642V |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,913,068 (GRCm39) |
Y1462H |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,353,748 (GRCm39) |
D1765V |
probably damaging |
Het |
| Npy5r |
A |
T |
8: 67,134,675 (GRCm39) |
N39K |
possibly damaging |
Het |
| Or5m13b |
G |
A |
2: 85,753,735 (GRCm39) |
G41D |
probably damaging |
Het |
| Pax6 |
A |
G |
2: 105,514,247 (GRCm39) |
I29V |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,178,436 (GRCm39) |
Y307H |
probably benign |
Het |
| Pmf1 |
A |
C |
3: 88,303,358 (GRCm39) |
Y68D |
probably damaging |
Het |
| Psen2 |
C |
A |
1: 180,073,292 (GRCm39) |
E10* |
probably null |
Het |
| Ptprs |
T |
A |
17: 56,726,080 (GRCm39) |
M991L |
probably benign |
Het |
| R3hdm4 |
A |
G |
10: 79,749,495 (GRCm39) |
V20A |
possibly damaging |
Het |
| Rad17 |
T |
C |
13: 100,754,274 (GRCm39) |
N649D |
probably benign |
Het |
| Rad9b |
A |
T |
5: 122,489,415 (GRCm39) |
C38S |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,976,469 (GRCm39) |
M1296V |
probably benign |
Het |
| Rbp3 |
T |
C |
14: 33,678,439 (GRCm39) |
S796P |
probably damaging |
Het |
| Rpl10-ps3 |
A |
G |
9: 50,256,082 (GRCm39) |
S54P |
probably benign |
Het |
| Sclt1 |
T |
A |
3: 41,581,612 (GRCm39) |
I688F |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,535 (GRCm39) |
I1778T |
probably damaging |
Het |
| Scrib |
C |
T |
15: 75,939,021 (GRCm39) |
R159Q |
possibly damaging |
Het |
| Senp1 |
C |
T |
15: 97,956,097 (GRCm39) |
E441K |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,389,024 (GRCm39) |
F417I |
probably damaging |
Het |
| Slco1a7 |
A |
C |
6: 141,684,764 (GRCm39) |
D230E |
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,670,394 (GRCm39) |
D514G |
probably damaging |
Het |
| Tbc1d23 |
T |
G |
16: 56,993,513 (GRCm39) |
D551A |
probably benign |
Het |
| Them4 |
A |
T |
3: 94,224,806 (GRCm39) |
D61V |
possibly damaging |
Het |
| Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,206,864 (GRCm39) |
I1666V |
possibly damaging |
Het |
| Vipr2 |
A |
C |
12: 116,106,604 (GRCm39) |
N378T |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,231 (GRCm39) |
R575G |
probably benign |
Het |
| Zfp941 |
A |
T |
7: 140,392,158 (GRCm39) |
C400* |
probably null |
Het |
| Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
probably benign |
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 |
|
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'- ATTCCCCAGCAGCTGCATTAG -3'
(R):5'- GTTCCTCGATGTGGGAAGAG -3'
Sequencing Primer
(F):5'- GCATTAGCACCACTGTGTGC -3'
(R):5'- AAGAGGATCTCTGCCAGCC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation