Incidental Mutation 'R9510:Tet3'
| ID |
718086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R9510 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83380935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 411
(E411G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
[ENSMUST00000190295]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089622
AA Change: E276G
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: E276G
| 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 |
possibly damaging
Transcript: ENSMUST00000186548
AA Change: E411G
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: E411G
| 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 benign
Transcript: ENSMUST00000190295
|
| SMART Domains |
Protein: ENSMUSP00000139679
Gene: ENSMUSG00000034832
| 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: 99.6%
- 20x: 98.6%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578G10Rik |
T |
G |
4: 42,760,998 (GRCm39) |
W6G |
unknown |
Het |
| Aatk |
A |
T |
11: 119,901,094 (GRCm39) |
C1101S |
probably benign |
Het |
| Ankrd61 |
T |
C |
5: 143,828,322 (GRCm39) |
T218A |
possibly damaging |
Het |
| Cacna1b |
T |
C |
2: 24,540,058 (GRCm39) |
E1467G |
probably damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,802,016 (GRCm39) |
T34A |
probably benign |
Het |
| Cdc42bpb |
G |
A |
12: 111,261,372 (GRCm39) |
P1656S |
probably benign |
Het |
| Cdk13 |
A |
C |
13: 17,902,747 (GRCm39) |
C934W |
probably damaging |
Het |
| Cebpg |
T |
C |
7: 34,750,080 (GRCm39) |
N61S |
probably benign |
Het |
| Cldn13 |
T |
A |
5: 134,943,843 (GRCm39) |
E114V |
probably benign |
Het |
| Clec9a |
T |
A |
6: 129,398,023 (GRCm39) |
I187K |
possibly damaging |
Het |
| Cr2 |
G |
T |
1: 194,840,416 (GRCm39) |
L509M |
probably damaging |
Het |
| Creb3l2 |
C |
A |
6: 37,311,446 (GRCm39) |
G448W |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,229,760 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
C |
T |
11: 118,076,206 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,910,203 (GRCm39) |
D1441V |
unknown |
Het |
| Dnhd1 |
A |
T |
7: 105,352,889 (GRCm39) |
N2681Y |
possibly damaging |
Het |
| Dnm1 |
T |
C |
2: 32,213,739 (GRCm39) |
M476V |
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,592,279 (GRCm39) |
I938S |
probably benign |
Het |
| Duox1 |
G |
A |
2: 122,160,023 (GRCm39) |
V713I |
possibly damaging |
Het |
| Dusp16 |
T |
C |
6: 134,695,226 (GRCm39) |
H535R |
probably benign |
Het |
| Eif3j2 |
TGCCGCCGCCGCCGCCGCCGCCGCCGCC |
TGCCGCCGCCGCCGCCGCCGCCGCC |
18: 43,610,782 (GRCm39) |
|
probably benign |
Het |
| Fancd2os |
T |
A |
6: 113,574,994 (GRCm39) |
Y4F |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,886 (GRCm39) |
Q3846L |
probably benign |
Het |
| Fbxw10 |
A |
C |
11: 62,743,814 (GRCm39) |
H240P |
probably benign |
Het |
| Fer1l5 |
T |
C |
1: 36,442,662 (GRCm39) |
L727P |
probably damaging |
Het |
| Fezf1 |
A |
C |
6: 23,247,845 (GRCm39) |
F77V |
probably benign |
Het |
| Fli1 |
T |
C |
9: 32,335,493 (GRCm39) |
D313G |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,608,324 (GRCm39) |
T731A |
probably benign |
Het |
| Gfy |
T |
C |
7: 44,828,090 (GRCm39) |
Q2R |
possibly damaging |
Het |
| Ggt5 |
T |
C |
10: 75,445,139 (GRCm39) |
V382A |
probably benign |
Het |
| Hira |
A |
G |
16: 18,772,789 (GRCm39) |
D867G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,462,127 (GRCm39) |
S5184P |
probably benign |
Het |
| Ighv1-26 |
A |
C |
12: 114,752,407 (GRCm39) |
F7V |
probably benign |
Het |
| Igkv4-81 |
C |
T |
6: 68,967,796 (GRCm39) |
E102K |
possibly damaging |
Het |
| Inmt |
G |
T |
6: 55,147,990 (GRCm39) |
S213Y |
possibly damaging |
Het |
| Ints2 |
T |
A |
11: 86,135,335 (GRCm39) |
M360L |
probably benign |
Het |
| Itih3 |
A |
G |
14: 30,631,416 (GRCm39) |
S827P |
probably benign |
Het |
| Kcnk12 |
C |
A |
17: 88,054,122 (GRCm39) |
R180L |
probably benign |
Het |
| Klhl2 |
T |
C |
8: 65,202,113 (GRCm39) |
N521S |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,734,531 (GRCm39) |
F2104I |
unknown |
Het |
| Kndc1 |
G |
A |
7: 139,510,031 (GRCm39) |
S1291N |
probably benign |
Het |
| Mettl21a |
T |
C |
1: 64,647,285 (GRCm39) |
T91A |
probably damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,120,407 (GRCm39) |
I426V |
possibly damaging |
Het |
| Mrpl2 |
T |
C |
17: 46,958,440 (GRCm39) |
V74A |
probably benign |
Het |
| Msantd4 |
A |
G |
9: 4,385,007 (GRCm39) |
D244G |
probably benign |
Het |
| Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,420,341 (GRCm39) |
*838W |
probably null |
Het |
| Ncor1 |
CTG |
CTGATG |
11: 62,324,442 (GRCm39) |
|
probably benign |
Het |
| Nsf |
T |
C |
11: 103,763,988 (GRCm39) |
N365S |
probably damaging |
Het |
| Osbpl3 |
C |
T |
6: 50,313,194 (GRCm39) |
|
probably null |
Het |
| Pam |
C |
T |
1: 97,826,065 (GRCm39) |
|
probably null |
Het |
| Parn |
A |
T |
16: 13,358,942 (GRCm39) |
M600K |
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,532 (GRCm39) |
T387N |
probably benign |
Het |
| Ptprt |
A |
C |
2: 161,397,381 (GRCm39) |
C1129G |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,856 (GRCm39) |
S645T |
probably damaging |
Het |
| Rara |
C |
T |
11: 98,860,983 (GRCm39) |
S157L |
probably benign |
Het |
| Rnf40 |
T |
A |
7: 127,201,808 (GRCm39) |
I1000N |
probably damaging |
Het |
| Sap25 |
C |
T |
5: 137,640,494 (GRCm39) |
T141I |
probably null |
Het |
| Scube2 |
C |
T |
7: 109,430,969 (GRCm39) |
G410E |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,304,089 (GRCm39) |
E264G |
probably benign |
Het |
| Smc4 |
T |
G |
3: 68,914,662 (GRCm39) |
S92A |
probably damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,666,521 (GRCm39) |
R129Q |
probably benign |
Het |
| Spata31e4 |
A |
G |
13: 50,856,149 (GRCm39) |
T596A |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,713,203 (GRCm39) |
R390G |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,377,768 (GRCm39) |
F842S |
probably damaging |
Het |
| Stk17b |
G |
T |
1: 53,796,898 (GRCm39) |
H290N |
probably damaging |
Het |
| Stpg3 |
A |
T |
2: 25,103,516 (GRCm39) |
V191D |
probably benign |
Het |
| Supt6 |
C |
T |
11: 78,120,290 (GRCm39) |
R350H |
probably damaging |
Het |
| Taf1b |
G |
A |
12: 24,566,947 (GRCm39) |
A214T |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,545,913 (GRCm39) |
Y212H |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,395,702 (GRCm39) |
I1234T |
probably damaging |
Het |
| Traf6 |
C |
T |
2: 101,521,825 (GRCm39) |
T220I |
possibly damaging |
Het |
| Tram2 |
C |
G |
1: 21,074,150 (GRCm39) |
A263P |
possibly damaging |
Het |
| Treml1 |
T |
G |
17: 48,673,771 (GRCm39) |
S261A |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,503 (GRCm39) |
E197G |
probably damaging |
Het |
| Tspan18 |
C |
T |
2: 93,050,462 (GRCm39) |
G54S |
probably damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,049,529 (GRCm39) |
V29A |
probably damaging |
Het |
| Zdhhc16 |
T |
C |
19: 41,929,155 (GRCm39) |
Y253H |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,365,874 (GRCm39) |
Y345C |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,510,041 (GRCm39) |
D101V |
possibly damaging |
Het |
| Zfp462 |
G |
A |
4: 55,080,735 (GRCm39) |
M2450I |
probably benign |
Het |
| Zfp52 |
C |
T |
17: 21,782,218 (GRCm39) |
L689F |
possibly damaging |
Het |
| Zim1 |
G |
A |
7: 6,690,739 (GRCm39) |
Q29* |
probably null |
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 |
|
|
R7544:Tet3
|
UTSW |
6 |
83,381,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TGGATGTAATCACTGGCGCTG -3'
(R):5'- ACTCCTTAGCTCTGAGGTCC -3'
Sequencing Primer
(F):5'- TGCCCAATAGCTGCTCCAG -3'
(R):5'- TTAGCTCTGAGGTCCCCCAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation