Incidental Mutation 'R8936:Tet1'
ID |
680657 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet1
|
Ensembl Gene |
ENSMUSG00000047146 |
Gene Name |
tet methylcytosine dioxygenase 1 |
Synonyms |
Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228 |
MMRRC Submission |
068779-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8936 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
62640349-62723242 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 62676063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 671
(L671*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133279
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050826]
[ENSMUST00000174189]
|
AlphaFold |
Q3URK3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000050826
AA Change: L671*
|
SMART Domains |
Protein: ENSMUSP00000059527 Gene: ENSMUSG00000047146 AA Change: L671*
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 null
Transcript: ENSMUST00000174189
AA Change: L671*
|
SMART Domains |
Protein: ENSMUSP00000133279 Gene: ENSMUSG00000047146 AA Change: L671*
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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,797,101 (GRCm39) |
K491E |
probably benign |
Het |
Abcd3 |
T |
C |
3: 121,569,117 (GRCm39) |
I374V |
probably benign |
Het |
Adam34 |
G |
A |
8: 44,104,439 (GRCm39) |
T402I |
probably benign |
Het |
Angptl7 |
G |
T |
4: 148,581,790 (GRCm39) |
H199N |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,621,840 (GRCm39) |
C671R |
possibly damaging |
Het |
Anxa7 |
G |
A |
14: 20,521,495 (GRCm39) |
P67L |
unknown |
Het |
Ap3d1 |
T |
A |
10: 80,547,952 (GRCm39) |
Q913H |
probably benign |
Het |
Arhgef37 |
A |
G |
18: 61,656,948 (GRCm39) |
I39T |
probably damaging |
Het |
Armh4 |
G |
A |
14: 50,008,024 (GRCm39) |
T483I |
probably damaging |
Het |
C3ar1 |
T |
A |
6: 122,828,044 (GRCm39) |
T58S |
probably damaging |
Het |
Caap1 |
A |
T |
4: 94,389,332 (GRCm39) |
L334Q |
probably damaging |
Het |
Ccr1 |
A |
T |
9: 123,763,882 (GRCm39) |
I216K |
probably damaging |
Het |
Cdh9 |
T |
A |
15: 16,831,162 (GRCm39) |
|
probably null |
Het |
Cept1 |
A |
G |
3: 106,411,921 (GRCm39) |
F351S |
possibly damaging |
Het |
Cfap61 |
A |
G |
2: 145,791,879 (GRCm39) |
D112G |
possibly damaging |
Het |
Cul9 |
T |
A |
17: 46,839,528 (GRCm39) |
S817C |
possibly damaging |
Het |
Dido1 |
A |
G |
2: 180,303,195 (GRCm39) |
S1570P |
probably benign |
Het |
Disc1 |
A |
G |
8: 125,814,754 (GRCm39) |
D206G |
probably damaging |
Het |
Dock5 |
T |
A |
14: 68,083,439 (GRCm39) |
R157* |
probably null |
Het |
Dpp6 |
A |
G |
5: 27,926,140 (GRCm39) |
D738G |
probably damaging |
Het |
Enpep |
A |
G |
3: 129,125,884 (GRCm39) |
F83L |
possibly damaging |
Het |
F10 |
G |
T |
8: 13,095,086 (GRCm39) |
W81L |
probably damaging |
Het |
Fam217a |
T |
C |
13: 35,095,147 (GRCm39) |
D356G |
probably damaging |
Het |
Fes |
T |
C |
7: 80,031,473 (GRCm39) |
E467G |
probably damaging |
Het |
Fignl2 |
A |
T |
15: 100,951,339 (GRCm39) |
D314E |
unknown |
Het |
Foxh1 |
T |
C |
15: 76,552,719 (GRCm39) |
|
probably benign |
Het |
Gdpd5 |
T |
C |
7: 99,109,199 (GRCm39) |
L573P |
probably benign |
Het |
Gigyf1 |
T |
A |
5: 137,523,469 (GRCm39) |
S934T |
probably damaging |
Het |
Gm7356 |
C |
T |
17: 14,221,937 (GRCm39) |
V31I |
probably benign |
Het |
Hoatz |
A |
G |
9: 51,011,298 (GRCm39) |
|
probably null |
Het |
Hoxa2 |
C |
A |
6: 52,140,517 (GRCm39) |
K156N |
probably damaging |
Het |
Ifi203 |
G |
A |
1: 173,756,857 (GRCm39) |
|
probably benign |
Het |
Il5ra |
A |
T |
6: 106,692,604 (GRCm39) |
D380E |
possibly damaging |
Het |
Ino80c |
C |
A |
18: 24,254,865 (GRCm39) |
|
probably benign |
Het |
Kif18a |
T |
A |
2: 109,163,966 (GRCm39) |
W772R |
probably benign |
Het |
Lipo3 |
G |
T |
19: 33,557,880 (GRCm39) |
Q171K |
probably damaging |
Het |
Mga |
A |
T |
2: 119,794,709 (GRCm39) |
T2798S |
probably damaging |
Het |
Msantd5l |
A |
G |
11: 51,145,249 (GRCm39) |
S113P |
probably damaging |
Het |
Mybpc1 |
T |
A |
10: 88,394,437 (GRCm39) |
T297S |
probably benign |
Het |
Myh7 |
T |
G |
14: 55,228,440 (GRCm39) |
Q222P |
probably benign |
Het |
N4bp2l2 |
T |
C |
5: 150,585,362 (GRCm39) |
D206G |
probably benign |
Het |
Nacc2 |
G |
C |
2: 25,952,216 (GRCm39) |
T380S |
probably benign |
Het |
Niban3 |
T |
A |
8: 72,060,307 (GRCm39) |
|
probably benign |
Het |
Nkpd1 |
T |
A |
7: 19,255,875 (GRCm39) |
D186E |
probably damaging |
Het |
Nol10 |
A |
T |
12: 17,466,863 (GRCm39) |
E581V |
probably benign |
Het |
Ntrk1 |
A |
T |
3: 87,693,366 (GRCm39) |
N255K |
possibly damaging |
Het |
Nudt5 |
T |
G |
2: 5,869,228 (GRCm39) |
D151E |
probably benign |
Het |
Obscn |
A |
T |
11: 58,892,858 (GRCm39) |
L6796Q |
probably benign |
Het |
Or10p21 |
C |
T |
10: 128,847,802 (GRCm39) |
A216V |
probably benign |
Het |
Or4k2 |
A |
G |
14: 50,423,999 (GRCm39) |
I225T |
possibly damaging |
Het |
Oxct2b |
A |
G |
4: 123,010,838 (GRCm39) |
T253A |
probably benign |
Het |
Patl1 |
G |
A |
19: 11,891,725 (GRCm39) |
C10Y |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,310,427 (GRCm39) |
R1905G |
possibly damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,402,312 (GRCm39) |
E2228G |
possibly damaging |
Het |
Plcg1 |
A |
G |
2: 160,589,986 (GRCm39) |
K135E |
probably benign |
Het |
Proz |
A |
G |
8: 13,115,319 (GRCm39) |
T112A |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,099,199 (GRCm39) |
N1568D |
probably benign |
Het |
Rbm4 |
A |
G |
19: 4,837,539 (GRCm39) |
V431A |
probably benign |
Het |
Rgs19 |
G |
T |
2: 181,333,058 (GRCm39) |
C40* |
probably null |
Het |
Rimbp3 |
T |
A |
16: 17,030,884 (GRCm39) |
I1436K |
probably benign |
Het |
Rnps1 |
T |
A |
17: 24,641,176 (GRCm39) |
M192K |
probably damaging |
Het |
Rrad |
C |
T |
8: 105,355,222 (GRCm39) |
R262Q |
possibly damaging |
Het |
Slc17a9 |
G |
A |
2: 180,380,210 (GRCm39) |
V318I |
probably benign |
Het |
Slc5a12 |
A |
G |
2: 110,467,455 (GRCm39) |
I412V |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,925,491 (GRCm39) |
N329K |
probably benign |
Het |
St3gal4 |
G |
A |
9: 34,964,723 (GRCm39) |
R165W |
probably damaging |
Het |
Strbp |
G |
A |
2: 37,493,949 (GRCm39) |
R375* |
probably null |
Het |
Tacc2 |
A |
G |
7: 130,228,367 (GRCm39) |
N1684S |
possibly damaging |
Het |
Tex2 |
C |
A |
11: 106,458,144 (GRCm39) |
E429* |
probably null |
Het |
Tgm4 |
T |
C |
9: 122,869,541 (GRCm39) |
I40T |
possibly damaging |
Het |
Tmem132d |
C |
T |
5: 127,869,676 (GRCm39) |
D553N |
probably damaging |
Het |
Tnks |
A |
T |
8: 35,320,501 (GRCm39) |
Y723* |
probably null |
Het |
Tnks1bp1 |
A |
T |
2: 84,894,320 (GRCm39) |
T1416S |
probably benign |
Het |
Tnxb |
T |
A |
17: 34,904,646 (GRCm39) |
L1137Q |
probably damaging |
Het |
Tor4a |
A |
C |
2: 25,085,202 (GRCm39) |
C68G |
probably damaging |
Het |
Tubb2b |
A |
C |
13: 34,312,445 (GRCm39) |
V116G |
probably damaging |
Het |
Upb1 |
T |
A |
10: 75,250,827 (GRCm39) |
S99T |
probably benign |
Het |
Vmn1r31 |
T |
A |
6: 58,449,083 (GRCm39) |
I261F |
unknown |
Het |
Vmn1r53 |
T |
C |
6: 90,200,571 (GRCm39) |
Y251C |
probably benign |
Het |
Vmn2r58 |
T |
C |
7: 41,513,981 (GRCm39) |
R221G |
|
Het |
Vmn2r88 |
A |
T |
14: 51,655,983 (GRCm39) |
I740F |
possibly damaging |
Het |
Zfp644 |
C |
T |
5: 106,783,503 (GRCm39) |
G1015R |
probably damaging |
Het |
Zfy1 |
T |
C |
Y: 738,726 (GRCm39) |
D160G |
unknown |
Het |
Zscan25 |
T |
A |
5: 145,223,200 (GRCm39) |
V156E |
probably damaging |
Het |
Zyg11b |
A |
T |
4: 108,109,356 (GRCm39) |
F443I |
|
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 |
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'- CCTTATGGTCTGGGCAAATGTCG -3'
(R):5'- AGTGGGAGCCTAGCAACAAC -3'
Sequencing Primer
(F):5'- TCTGGGCAAATGTCGGAGAAG -3'
(R):5'- GGAGCCTAGCAACAACAACCAC -3'
|
Posted On |
2021-08-31 |