Incidental Mutation 'R9582:Tet3'
| ID |
722597 |
| 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: 0.552)
|
| Stock # |
R9582 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83381226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 314
(P314Q)
|
| 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: P179Q
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: P179Q
| 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: P314Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: P314Q
| 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: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,772,766 (GRCm39) |
F652I |
probably damaging |
Het |
| Adam17 |
A |
T |
12: 21,386,665 (GRCm39) |
I457K |
probably benign |
Het |
| Arpin |
T |
C |
7: 79,585,038 (GRCm39) |
|
probably benign |
Het |
| Bhlhe40 |
A |
G |
6: 108,638,467 (GRCm39) |
E51G |
probably benign |
Het |
| Ces1a |
C |
T |
8: 93,766,156 (GRCm39) |
D153N |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,536,200 (GRCm39) |
M547V |
probably benign |
Het |
| Csrnp2 |
C |
T |
15: 100,386,067 (GRCm39) |
R57K |
possibly damaging |
Het |
| Dact1 |
A |
T |
12: 71,365,619 (GRCm39) |
K763M |
probably damaging |
Het |
| Ddost |
A |
T |
4: 138,035,583 (GRCm39) |
I101F |
possibly damaging |
Het |
| Dyrk1b |
C |
T |
7: 27,882,028 (GRCm39) |
R130W |
probably damaging |
Het |
| Ep400 |
A |
C |
5: 110,824,315 (GRCm39) |
|
probably null |
Het |
| Fam227a |
A |
G |
15: 79,501,978 (GRCm39) |
V532A |
probably benign |
Het |
| Flnc |
C |
A |
6: 29,460,736 (GRCm39) |
T2609K |
probably damaging |
Het |
| Gbp10 |
A |
G |
5: 105,372,256 (GRCm39) |
V168A |
probably benign |
Het |
| Gp5 |
A |
G |
16: 30,127,057 (GRCm39) |
V539A |
probably benign |
Het |
| H2-T13 |
T |
A |
17: 36,392,375 (GRCm39) |
R33S |
unknown |
Het |
| Itih5 |
A |
G |
2: 10,195,013 (GRCm39) |
E135G |
probably benign |
Het |
| L2hgdh |
A |
G |
12: 69,739,172 (GRCm39) |
V433A |
probably benign |
Het |
| Leng9 |
A |
G |
7: 4,152,263 (GRCm39) |
S138P |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ly6g6e |
T |
C |
17: 35,296,159 (GRCm39) |
V10A |
probably benign |
Het |
| Lypla1 |
C |
T |
1: 4,911,248 (GRCm39) |
P178S |
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,651,858 (GRCm39) |
F216L |
possibly damaging |
Het |
| Mertk |
G |
A |
2: 128,624,527 (GRCm39) |
R646Q |
possibly damaging |
Het |
| Mmp9 |
A |
C |
2: 164,791,235 (GRCm39) |
D135A |
probably benign |
Het |
| Nefl |
A |
G |
14: 68,324,849 (GRCm39) |
K529E |
unknown |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nwd1 |
A |
G |
8: 73,421,917 (GRCm39) |
T988A |
probably damaging |
Het |
| P4ha2 |
T |
A |
11: 54,022,065 (GRCm39) |
C529* |
probably null |
Het |
| Pcdhb4 |
T |
A |
18: 37,441,417 (GRCm39) |
F242L |
probably damaging |
Het |
| Pced1b |
A |
G |
15: 97,282,450 (GRCm39) |
N163S |
probably damaging |
Het |
| Pde8b |
A |
G |
13: 95,169,369 (GRCm39) |
V585A |
probably damaging |
Het |
| Pknox2 |
T |
A |
9: 36,804,252 (GRCm39) |
T432S |
probably damaging |
Het |
| Rad18 |
A |
G |
6: 112,658,298 (GRCm39) |
|
probably null |
Het |
| Rpgrip1l |
C |
T |
8: 91,996,886 (GRCm39) |
V665I |
probably benign |
Het |
| Rreb1 |
A |
G |
13: 38,114,734 (GRCm39) |
I698V |
probably benign |
Het |
| Schip1 |
TCTGGCC |
TC |
3: 68,525,060 (GRCm39) |
|
probably null |
Het |
| Slc2a4 |
C |
T |
11: 69,837,450 (GRCm39) |
V32M |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,950,499 (GRCm39) |
Y318H |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,897,717 (GRCm39) |
T156A |
probably benign |
Het |
| Srebf1 |
C |
A |
11: 60,097,868 (GRCm39) |
A103S |
probably benign |
Het |
| Sspn |
C |
T |
6: 145,899,334 (GRCm39) |
|
probably benign |
Het |
| Stoml2 |
A |
T |
4: 43,030,238 (GRCm39) |
|
probably null |
Het |
| Stra6 |
T |
A |
9: 58,054,770 (GRCm39) |
V319E |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,416,780 (GRCm39) |
F414L |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,757,128 (GRCm39) |
L1313Q |
|
Het |
| Topors |
A |
T |
4: 40,260,460 (GRCm39) |
D941E |
unknown |
Het |
| Txnip |
T |
A |
3: 96,465,659 (GRCm39) |
C36* |
probably null |
Het |
| Uba3 |
A |
T |
6: 97,168,491 (GRCm39) |
M178K |
probably damaging |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,925 (GRCm39) |
T196A |
probably benign |
Het |
| Vwc2 |
T |
A |
11: 11,066,129 (GRCm39) |
S72R |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,210,975 (GRCm39) |
S1627P |
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 |
|
|
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 |
|
|
R9510:Tet3
|
UTSW |
6 |
83,380,935 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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'- AAAGGATGGATGTTCCTCTGGG -3'
(R):5'- ACCGTGAGATGAGTCGTGAG -3'
Sequencing Primer
(F):5'- ACCACAGGCCATGAGGG -3'
(R):5'- TGAAGACCTGGACACGCTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation