Incidental Mutation 'R9016:Tet3'
| ID |
685994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
068846-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.552)
|
| Stock # |
R9016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83345253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1728
(A1728V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089622
AA Change: A1593V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: A1593V
| 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: A1728V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: A1728V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
C |
A |
18: 74,932,154 (GRCm39) |
S264R |
probably damaging |
Het |
| Agap1 |
T |
C |
1: 89,694,188 (GRCm39) |
|
probably null |
Het |
| Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,606,264 (GRCm39) |
G1219S |
probably null |
Het |
| Apob |
C |
T |
12: 8,035,408 (GRCm39) |
|
silent |
Het |
| Atg2a |
G |
C |
19: 6,300,111 (GRCm39) |
A640P |
probably damaging |
Het |
| AW209491 |
G |
A |
13: 14,812,193 (GRCm39) |
V349M |
probably damaging |
Het |
| Bmpr2 |
C |
T |
1: 59,854,460 (GRCm39) |
T103I |
probably damaging |
Het |
| Btaf1 |
A |
C |
19: 36,971,705 (GRCm39) |
E1231D |
probably benign |
Het |
| Btbd7 |
T |
C |
12: 102,751,417 (GRCm39) |
R1116G |
probably damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,891,162 (GRCm39) |
M627K |
probably benign |
Het |
| Cdk7 |
G |
A |
13: 100,854,126 (GRCm39) |
T121I |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,522,438 (GRCm39) |
T1833S |
|
Het |
| Dapk3 |
A |
T |
10: 81,028,266 (GRCm39) |
R279W |
probably damaging |
Het |
| Dennd2b |
A |
C |
7: 109,139,642 (GRCm39) |
D645E |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,998,856 (GRCm39) |
E1064G |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,673,226 (GRCm39) |
E75G |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,847,855 (GRCm39) |
E229G |
possibly damaging |
Het |
| Fam171a1 |
G |
A |
2: 3,227,434 (GRCm39) |
A856T |
probably benign |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fen1 |
A |
T |
19: 10,178,306 (GRCm39) |
V46D |
probably damaging |
Het |
| Ffar3 |
T |
C |
7: 30,554,454 (GRCm39) |
R289G |
probably damaging |
Het |
| Fhod3 |
G |
A |
18: 25,243,136 (GRCm39) |
E1165K |
possibly damaging |
Het |
| Fras1 |
A |
T |
5: 96,783,923 (GRCm39) |
H809L |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,249,870 (GRCm39) |
E447V |
probably benign |
Het |
| Gja8 |
T |
C |
3: 96,827,521 (GRCm39) |
D47G |
probably damaging |
Het |
| Gm5795 |
A |
G |
14: 14,883,574 (GRCm39) |
K144E |
probably benign |
Het |
| Gm7298 |
A |
C |
6: 121,758,800 (GRCm39) |
Q1139H |
possibly damaging |
Het |
| Gpa33 |
A |
T |
1: 165,992,730 (GRCm39) |
Y281F |
probably damaging |
Het |
| H2-M10.5 |
G |
A |
17: 37,084,226 (GRCm39) |
E63K |
possibly damaging |
Het |
| Hgf |
T |
C |
5: 16,823,956 (GRCm39) |
W718R |
probably damaging |
Het |
| Ifna5 |
C |
G |
4: 88,754,046 (GRCm39) |
D95E |
probably benign |
Het |
| Ifnar2 |
T |
C |
16: 91,201,073 (GRCm39) |
L438P |
possibly damaging |
Het |
| Ints1 |
T |
C |
5: 139,744,326 (GRCm39) |
T1479A |
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,953,395 (GRCm39) |
R1263H |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,856,467 (GRCm39) |
T686A |
probably benign |
Het |
| Med12l |
A |
T |
3: 59,163,294 (GRCm39) |
E1307V |
probably damaging |
Het |
| Mtcl1 |
T |
A |
17: 66,651,062 (GRCm39) |
T1468S |
probably damaging |
Het |
| Myo9a |
C |
T |
9: 59,775,427 (GRCm39) |
Q1013* |
probably null |
Het |
| Nckap5 |
T |
C |
1: 126,623,491 (GRCm39) |
M1V |
probably null |
Het |
| Nos3 |
G |
T |
5: 24,588,639 (GRCm39) |
V1122F |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Odad1 |
T |
G |
7: 45,585,988 (GRCm39) |
C128W |
probably damaging |
Het |
| Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
| Or52n4 |
A |
T |
7: 104,293,828 (GRCm39) |
C250* |
probably null |
Het |
| Oscar |
A |
G |
7: 3,619,072 (GRCm39) |
V2A |
probably benign |
Het |
| P2rx6 |
T |
A |
16: 17,385,304 (GRCm39) |
H132Q |
possibly damaging |
Het |
| Pakap |
T |
C |
4: 57,637,857 (GRCm39) |
C12R |
unknown |
Het |
| Pde6b |
T |
A |
5: 108,536,592 (GRCm39) |
M96K |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,843,159 (GRCm39) |
L231Q |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,423,899 (GRCm39) |
I297V |
possibly damaging |
Het |
| Prrc2a |
G |
A |
17: 35,378,844 (GRCm39) |
T399I |
unknown |
Het |
| Rapsn |
A |
G |
2: 90,867,172 (GRCm39) |
D158G |
probably damaging |
Het |
| Rcor1 |
T |
A |
12: 111,047,933 (GRCm39) |
|
probably benign |
Het |
| Sema4d |
G |
T |
13: 51,867,794 (GRCm39) |
P186T |
probably damaging |
Het |
| Skic2 |
A |
C |
17: 35,063,640 (GRCm39) |
L601R |
probably damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,773,241 (GRCm38) |
R737Q |
probably damaging |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Sox15 |
T |
G |
11: 69,546,529 (GRCm39) |
Y111D |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,200,938 (GRCm39) |
C2563Y |
probably damaging |
Het |
| Taf8 |
A |
T |
17: 47,807,527 (GRCm39) |
D153E |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,737,778 (GRCm39) |
D427E |
probably benign |
Het |
| Tmem53 |
T |
C |
4: 117,125,451 (GRCm39) |
I188T |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,935,331 (GRCm39) |
D535A |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
| Tnik |
G |
A |
3: 28,692,544 (GRCm39) |
G867R |
probably damaging |
Het |
| Uba3 |
A |
T |
6: 97,162,694 (GRCm39) |
C367* |
probably null |
Het |
| Vmn1r235 |
G |
T |
17: 21,481,969 (GRCm39) |
S98I |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,442,109 (GRCm39) |
E108G |
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,525,462 (GRCm39) |
I127N |
probably benign |
Het |
| Zc3h18 |
G |
A |
8: 123,129,963 (GRCm39) |
R447Q |
unknown |
Het |
| Zcwpw1 |
C |
A |
5: 137,798,340 (GRCm39) |
P179Q |
probably damaging |
Het |
| Zfp526 |
C |
T |
7: 24,925,264 (GRCm39) |
H508Y |
probably damaging |
Het |
| Zfp583 |
T |
C |
7: 6,320,404 (GRCm39) |
K203E |
probably benign |
Het |
| Zfp979 |
A |
G |
4: 147,697,504 (GRCm39) |
C402R |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,254 (GRCm39) |
T629A |
probably damaging |
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 |
|
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'- GACCTTTGTGTAGGCGTAAGAG -3'
(R):5'- CCTGGATGAGAACATAGGCG -3'
Sequencing Primer
(F):5'- CTTTGTGTAGGCGTAAGAGGACAC -3'
(R):5'- CATTGCTCCATCCTCATCGAGTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation