Incidental Mutation 'R7544:Tet3'
ID |
584080 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet3
|
Ensembl Gene |
ENSMUSG00000034832 |
Gene Name |
tet methylcytosine dioxygenase 3 |
Synonyms |
B430006D22Rik, D230004J03Rik |
MMRRC Submission |
045616-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.640)
|
Stock # |
R7544 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83381623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 182
(W182R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
[ENSMUST00000190295]
|
AlphaFold |
Q8BG87 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000089622
AA Change: W47R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087049 Gene: ENSMUSG00000034832 AA Change: W47R
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
low complexity region
|
66 |
77 |
N/A |
INTRINSIC |
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
internal_repeat_1
|
160 |
277 |
4.9e-5 |
PROSPERO |
low complexity region
|
279 |
297 |
N/A |
INTRINSIC |
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
low complexity region
|
418 |
456 |
N/A |
INTRINSIC |
Tet_JBP
|
858 |
1570 |
N/A |
SMART |
coiled coil region
|
1579 |
1603 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186548
AA Change: W182R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139630 Gene: ENSMUSG00000034832 AA Change: W182R
Domain | Start | End | E-Value | Type |
Pfam:zf-CXXC
|
49 |
89 |
8e-6 |
PFAM |
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
low complexity region
|
250 |
261 |
N/A |
INTRINSIC |
internal_repeat_1
|
295 |
412 |
5.5e-5 |
PROSPERO |
low complexity region
|
414 |
432 |
N/A |
INTRINSIC |
low complexity region
|
494 |
506 |
N/A |
INTRINSIC |
low complexity region
|
553 |
591 |
N/A |
INTRINSIC |
Tet_JBP
|
993 |
1705 |
N/A |
SMART |
coiled coil region
|
1714 |
1738 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190295
AA Change: W92R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139679 Gene: ENSMUSG00000034832 AA Change: W92R
Domain | Start | End | E-Value | Type |
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010] PHENOTYPE: Mice inheriting a null allele from a germ cell conditional null mother display impaired reprogramming of the paternal genome resulting in reduced embryo viability. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
C |
T |
11: 72,089,765 (GRCm39) |
V40I |
probably damaging |
Het |
Abcb11 |
T |
C |
2: 69,095,830 (GRCm39) |
K837E |
probably benign |
Het |
Arhgef10 |
T |
C |
8: 15,029,854 (GRCm39) |
S919P |
probably benign |
Het |
Atxn2 |
T |
C |
5: 121,919,431 (GRCm39) |
S530P |
probably damaging |
Het |
Bicc1 |
T |
C |
10: 70,792,204 (GRCm39) |
E268G |
possibly damaging |
Het |
Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
Capn7 |
T |
G |
14: 31,062,007 (GRCm39) |
L40V |
probably damaging |
Het |
Cd28 |
A |
T |
1: 60,808,859 (GRCm39) |
N191I |
probably damaging |
Het |
Cfap69 |
G |
A |
5: 5,645,936 (GRCm39) |
T588M |
not run |
Het |
Csmd1 |
T |
C |
8: 16,142,310 (GRCm39) |
E1531G |
probably damaging |
Het |
Cyp4a14 |
T |
A |
4: 115,348,283 (GRCm39) |
D398V |
probably damaging |
Het |
Dchs2 |
T |
C |
3: 83,262,434 (GRCm39) |
S2901P |
probably damaging |
Het |
Ddx11 |
G |
A |
17: 66,433,280 (GRCm39) |
G37S |
probably damaging |
Het |
Diaph1 |
A |
T |
18: 38,026,322 (GRCm39) |
|
probably null |
Het |
Ech1 |
T |
C |
7: 28,525,392 (GRCm39) |
V49A |
probably benign |
Het |
Elovl4 |
T |
C |
9: 83,665,271 (GRCm39) |
Y196C |
probably damaging |
Het |
Ern2 |
G |
A |
7: 121,772,422 (GRCm39) |
L679F |
probably benign |
Het |
Fbf1 |
A |
T |
11: 116,056,659 (GRCm39) |
M17K |
probably benign |
Het |
Flvcr1 |
C |
A |
1: 190,758,143 (GRCm39) |
G50W |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,238,382 (GRCm39) |
S1455P |
probably benign |
Het |
Fzd9 |
A |
G |
5: 135,278,716 (GRCm39) |
Y390H |
probably damaging |
Het |
Gnai3 |
C |
T |
3: 108,025,702 (GRCm39) |
V126M |
|
Het |
Gpc5 |
T |
C |
14: 115,665,585 (GRCm39) |
F470L |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,195,086 (GRCm39) |
N332S |
probably benign |
Het |
Gtf3c5 |
T |
A |
2: 28,469,554 (GRCm39) |
I117F |
possibly damaging |
Het |
Hydin |
A |
T |
8: 111,316,157 (GRCm39) |
S4350C |
probably benign |
Het |
Kcnh4 |
G |
T |
11: 100,647,906 (GRCm39) |
H152Q |
probably benign |
Het |
Kcnk12 |
A |
T |
17: 88,053,493 (GRCm39) |
S390T |
possibly damaging |
Het |
Klra9 |
T |
G |
6: 130,168,183 (GRCm39) |
T28P |
probably benign |
Het |
Lef1 |
T |
A |
3: 130,988,414 (GRCm39) |
I327N |
probably damaging |
Het |
Lin54 |
A |
G |
5: 100,633,129 (GRCm39) |
V185A |
possibly damaging |
Het |
Lrrc37 |
T |
C |
11: 103,506,274 (GRCm39) |
E1898G |
probably benign |
Het |
Lrrc4b |
A |
T |
7: 44,111,975 (GRCm39) |
I616F |
probably damaging |
Het |
Mad2l1bp |
A |
G |
17: 46,463,770 (GRCm39) |
Y85H |
possibly damaging |
Het |
Mars1 |
T |
C |
10: 127,147,479 (GRCm39) |
E7G |
probably benign |
Het |
Mpnd |
G |
A |
17: 56,318,666 (GRCm39) |
R225H |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,555,016 (GRCm39) |
M1K |
probably null |
Het |
Nckap5 |
A |
G |
1: 125,953,948 (GRCm39) |
L868S |
possibly damaging |
Het |
Ndst1 |
G |
A |
18: 60,830,256 (GRCm39) |
T618M |
probably damaging |
Het |
Npas1 |
A |
T |
7: 16,194,899 (GRCm39) |
|
probably null |
Het |
Nr2f2 |
A |
T |
7: 70,004,499 (GRCm39) |
V384D |
probably damaging |
Het |
Or10a3b |
A |
G |
7: 108,444,528 (GRCm39) |
S230P |
probably benign |
Het |
Or1e19 |
A |
G |
11: 73,316,596 (GRCm39) |
L71P |
probably damaging |
Het |
Or4p8 |
T |
A |
2: 88,727,705 (GRCm39) |
I79F |
probably damaging |
Het |
Paip1 |
T |
A |
13: 119,582,337 (GRCm39) |
F188I |
probably damaging |
Het |
Pcdha4 |
A |
T |
18: 37,086,776 (GRCm39) |
I320L |
probably benign |
Het |
Peg10 |
TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC |
T |
6: 4,756,427 (GRCm39) |
|
probably null |
Het |
Pgpep1 |
C |
T |
8: 71,103,168 (GRCm39) |
G110R |
unknown |
Het |
Pidd1 |
T |
A |
7: 141,020,252 (GRCm39) |
H558L |
possibly damaging |
Het |
Ppp1r1a |
C |
T |
15: 103,439,776 (GRCm39) |
|
probably null |
Het |
Pramel18 |
T |
C |
4: 101,768,599 (GRCm39) |
S317P |
possibly damaging |
Het |
Pramel51 |
T |
A |
12: 88,142,850 (GRCm39) |
Y451F |
probably benign |
Het |
Prkcg |
A |
G |
7: 3,359,081 (GRCm39) |
D96G |
probably benign |
Het |
Prpf40b |
A |
G |
15: 99,203,899 (GRCm39) |
N154S |
probably benign |
Het |
Psg17 |
A |
G |
7: 18,553,897 (GRCm39) |
Y118H |
probably benign |
Het |
Ptpn12 |
A |
G |
5: 21,214,509 (GRCm39) |
I209T |
probably damaging |
Het |
Reln |
T |
A |
5: 22,181,276 (GRCm39) |
K1835* |
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,564,915 (GRCm39) |
M298V |
probably benign |
Het |
Slc5a3 |
T |
A |
16: 91,874,682 (GRCm39) |
N246K |
probably benign |
Het |
Slmap |
T |
A |
14: 26,151,001 (GRCm39) |
E522D |
probably damaging |
Het |
Slmap |
C |
T |
14: 26,151,003 (GRCm39) |
E522K |
probably damaging |
Het |
Tcp10c |
T |
A |
17: 13,581,260 (GRCm39) |
L230Q |
probably damaging |
Het |
Tdo2 |
A |
G |
3: 81,878,942 (GRCm39) |
|
probably null |
Het |
Tmem151a |
T |
A |
19: 5,121,895 (GRCm39) |
M35L |
unknown |
Het |
Tom1l2 |
TTGATGATG |
TTGATG |
11: 60,171,040 (GRCm39) |
|
probably benign |
Het |
Trak2 |
A |
T |
1: 58,960,227 (GRCm39) |
|
probably null |
Het |
Trappc11 |
T |
A |
8: 47,975,449 (GRCm39) |
E256D |
possibly damaging |
Het |
Trim62 |
C |
T |
4: 128,796,346 (GRCm39) |
T281I |
probably benign |
Het |
Trip13 |
T |
C |
13: 74,081,021 (GRCm39) |
E115G |
probably benign |
Het |
Trp63 |
A |
G |
16: 25,620,837 (GRCm39) |
T10A |
probably benign |
Het |
Urah |
A |
T |
7: 140,415,565 (GRCm39) |
H11L |
probably damaging |
Het |
Usp39 |
G |
A |
6: 72,319,891 (GRCm39) |
T109I |
probably damaging |
Het |
Wfikkn2 |
T |
C |
11: 94,128,738 (GRCm39) |
T468A |
probably benign |
Het |
Zfhx4 |
T |
G |
3: 5,477,875 (GRCm39) |
S3497A |
probably damaging |
Het |
Zfp85 |
C |
T |
13: 67,897,184 (GRCm39) |
R296H |
probably benign |
Het |
|
Other mutations in Tet3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00929:Tet3
|
APN |
6 |
83,345,637 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01396:Tet3
|
APN |
6 |
83,346,620 (GRCm39) |
nonsense |
probably null |
|
IGL02344:Tet3
|
APN |
6 |
83,380,815 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02987:Tet3
|
APN |
6 |
83,345,074 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03126:Tet3
|
APN |
6 |
83,353,769 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03155:Tet3
|
APN |
6 |
83,345,365 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03286:Tet3
|
APN |
6 |
83,352,760 (GRCm39) |
missense |
probably damaging |
1.00 |
Reedy
|
UTSW |
6 |
83,345,066 (GRCm39) |
nonsense |
probably null |
|
P0033:Tet3
|
UTSW |
6 |
83,345,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Tet3
|
UTSW |
6 |
83,345,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R0295:Tet3
|
UTSW |
6 |
83,346,121 (GRCm39) |
missense |
probably benign |
0.14 |
R0504:Tet3
|
UTSW |
6 |
83,350,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R0524:Tet3
|
UTSW |
6 |
83,356,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R1061:Tet3
|
UTSW |
6 |
83,350,305 (GRCm39) |
missense |
probably damaging |
0.99 |
R1160:Tet3
|
UTSW |
6 |
83,381,434 (GRCm39) |
missense |
probably benign |
0.00 |
R1550:Tet3
|
UTSW |
6 |
83,363,010 (GRCm39) |
missense |
probably damaging |
0.97 |
R1640:Tet3
|
UTSW |
6 |
83,346,297 (GRCm39) |
missense |
probably benign |
0.44 |
R1658:Tet3
|
UTSW |
6 |
83,346,039 (GRCm39) |
missense |
probably benign |
0.44 |
R1746:Tet3
|
UTSW |
6 |
83,345,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R1761:Tet3
|
UTSW |
6 |
83,380,641 (GRCm39) |
missense |
probably damaging |
0.99 |
R1832:Tet3
|
UTSW |
6 |
83,380,627 (GRCm39) |
missense |
probably benign |
|
R1835:Tet3
|
UTSW |
6 |
83,381,145 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1932:Tet3
|
UTSW |
6 |
83,381,361 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2014:Tet3
|
UTSW |
6 |
83,363,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R2230:Tet3
|
UTSW |
6 |
83,346,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R2232:Tet3
|
UTSW |
6 |
83,346,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R2922:Tet3
|
UTSW |
6 |
83,345,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R3429:Tet3
|
UTSW |
6 |
83,380,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R3430:Tet3
|
UTSW |
6 |
83,380,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R4291:Tet3
|
UTSW |
6 |
83,350,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R4349:Tet3
|
UTSW |
6 |
83,380,257 (GRCm39) |
missense |
probably benign |
|
R4809:Tet3
|
UTSW |
6 |
83,379,928 (GRCm39) |
missense |
probably benign |
|
R4846:Tet3
|
UTSW |
6 |
83,353,865 (GRCm39) |
nonsense |
probably null |
|
R5039:Tet3
|
UTSW |
6 |
83,352,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R5233:Tet3
|
UTSW |
6 |
83,363,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R5363:Tet3
|
UTSW |
6 |
83,353,746 (GRCm39) |
critical splice donor site |
probably null |
|
R5880:Tet3
|
UTSW |
6 |
83,347,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R6270:Tet3
|
UTSW |
6 |
83,352,773 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6277:Tet3
|
UTSW |
6 |
83,345,066 (GRCm39) |
nonsense |
probably null |
|
R6564:Tet3
|
UTSW |
6 |
83,363,052 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6622:Tet3
|
UTSW |
6 |
83,380,426 (GRCm39) |
missense |
probably benign |
0.00 |
R7089:Tet3
|
UTSW |
6 |
83,432,006 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7244:Tet3
|
UTSW |
6 |
83,347,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R7251:Tet3
|
UTSW |
6 |
83,381,038 (GRCm39) |
missense |
probably benign |
|
R7361:Tet3
|
UTSW |
6 |
83,345,076 (GRCm39) |
missense |
probably benign |
0.15 |
R7436:Tet3
|
UTSW |
6 |
83,345,211 (GRCm39) |
small insertion |
probably benign |
|
R7438:Tet3
|
UTSW |
6 |
83,345,211 (GRCm39) |
small insertion |
probably benign |
|
R7552:Tet3
|
UTSW |
6 |
83,345,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R7942:Tet3
|
UTSW |
6 |
83,353,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R8010:Tet3
|
UTSW |
6 |
83,380,228 (GRCm39) |
missense |
unknown |
|
R8063:Tet3
|
UTSW |
6 |
83,379,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R8307:Tet3
|
UTSW |
6 |
83,356,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Tet3
|
UTSW |
6 |
83,345,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R9020:Tet3
|
UTSW |
6 |
83,381,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R9377:Tet3
|
UTSW |
6 |
83,380,596 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9476:Tet3
|
UTSW |
6 |
83,381,808 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9476:Tet3
|
UTSW |
6 |
83,380,935 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9510:Tet3
|
UTSW |
6 |
83,381,808 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9510:Tet3
|
UTSW |
6 |
83,380,935 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9582:Tet3
|
UTSW |
6 |
83,381,226 (GRCm39) |
missense |
probably damaging |
0.99 |
R9671:Tet3
|
UTSW |
6 |
83,381,136 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9801:Tet3
|
UTSW |
6 |
83,346,436 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0004:Tet3
|
UTSW |
6 |
83,380,405 (GRCm39) |
missense |
probably benign |
0.17 |
Z1176:Tet3
|
UTSW |
6 |
83,436,003 (GRCm39) |
missense |
unknown |
|
Z1176:Tet3
|
UTSW |
6 |
83,381,332 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tet3
|
UTSW |
6 |
83,347,680 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tet3
|
UTSW |
6 |
83,381,276 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATGCCATGCCTTGCAAG -3'
(R):5'- AGAGCTCAGCCCAGTTGATG -3'
Sequencing Primer
(F):5'- AGGTCTTCACTGCCCTCAGAG -3'
(R):5'- GGTCAATGGTGCTAGAGA -3'
|
Posted On |
2019-10-17 |