Incidental Mutation 'IGL03155:Tet3'
| ID |
411209 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
IGL03155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83345365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 1556
(R1556S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089622
AA Change: R1556S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: R1556S
| 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: R1691S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: R1691S
| 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 |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1d |
C |
T |
2: 131,388,001 (GRCm39) |
R518H |
probably benign |
Het |
| Akr7a5 |
T |
A |
4: 139,041,837 (GRCm39) |
C190* |
probably null |
Het |
| Cct2 |
A |
T |
10: 116,896,576 (GRCm39) |
L209Q |
probably damaging |
Het |
| Chordc1 |
T |
A |
9: 18,215,616 (GRCm39) |
S123T |
possibly damaging |
Het |
| Crtap |
T |
C |
9: 114,209,117 (GRCm39) |
D309G |
possibly damaging |
Het |
| Csf2 |
T |
C |
11: 54,138,497 (GRCm39) |
T115A |
possibly damaging |
Het |
| Dgkb |
T |
A |
12: 38,189,458 (GRCm39) |
I287N |
probably damaging |
Het |
| Dyrk1b |
G |
A |
7: 27,882,112 (GRCm39) |
D98N |
probably benign |
Het |
| Eif4g1 |
T |
C |
16: 20,511,167 (GRCm39) |
S1550P |
probably damaging |
Het |
| Fam83e |
A |
G |
7: 45,376,499 (GRCm39) |
E404G |
possibly damaging |
Het |
| Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
| Fsip1 |
A |
T |
2: 118,082,220 (GRCm39) |
N71K |
probably benign |
Het |
| Gm5092 |
A |
T |
17: 21,314,970 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1l |
T |
A |
16: 18,359,282 (GRCm39) |
|
probably null |
Het |
| Got1l1 |
T |
C |
8: 27,689,360 (GRCm39) |
Y233C |
probably damaging |
Het |
| Katnbl1 |
T |
A |
2: 112,239,577 (GRCm39) |
|
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,818,382 (GRCm39) |
E493G |
probably damaging |
Het |
| Kif26b |
C |
T |
1: 178,701,693 (GRCm39) |
R691W |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,285,796 (GRCm39) |
|
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,241,861 (GRCm39) |
S107P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,335,912 (GRCm39) |
N1433D |
probably benign |
Het |
| Mycbp2 |
G |
A |
14: 103,392,889 (GRCm39) |
S3114L |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,452,932 (GRCm39) |
H43L |
possibly damaging |
Het |
| Nin |
A |
T |
12: 70,078,544 (GRCm39) |
C1681S |
probably damaging |
Het |
| Nnmt |
C |
T |
9: 48,503,352 (GRCm39) |
V225M |
probably damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,446 (GRCm39) |
M164K |
probably damaging |
Het |
| Or4c125 |
A |
T |
2: 89,170,310 (GRCm39) |
M112K |
probably damaging |
Het |
| Phf21a |
T |
G |
2: 92,150,611 (GRCm39) |
V64G |
probably damaging |
Het |
| Ptprd |
A |
T |
4: 75,984,456 (GRCm39) |
S800R |
possibly damaging |
Het |
| Scarf2 |
C |
T |
16: 17,625,413 (GRCm39) |
P823S |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,341,248 (GRCm39) |
T1212A |
possibly damaging |
Het |
| Slc38a10 |
C |
T |
11: 119,995,945 (GRCm39) |
V1043I |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,692,034 (GRCm39) |
L370Q |
probably null |
Het |
| Tas1r2 |
T |
C |
4: 139,396,467 (GRCm39) |
V602A |
possibly damaging |
Het |
| Tatdn1 |
T |
C |
15: 58,788,045 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,936,398 (GRCm39) |
L1550Q |
probably damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,771,709 (GRCm39) |
I249N |
probably benign |
Het |
| Tnxb |
G |
T |
17: 34,932,569 (GRCm39) |
V2263F |
probably damaging |
Het |
| Trim75 |
C |
T |
8: 65,435,992 (GRCm39) |
V153M |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,773,042 (GRCm39) |
|
probably null |
Het |
| Tuft1 |
T |
A |
3: 94,541,821 (GRCm39) |
I61L |
possibly damaging |
Het |
| Usp43 |
T |
C |
11: 67,767,315 (GRCm39) |
D680G |
probably damaging |
Het |
| Vac14 |
A |
G |
8: 111,362,975 (GRCm39) |
I274V |
possibly damaging |
Het |
| Vmn1r222 |
T |
A |
13: 23,416,863 (GRCm39) |
R117W |
probably damaging |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,617 (GRCm39) |
M147V |
probably benign |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,068 (GRCm39) |
I382L |
possibly damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,552,878 (GRCm39) |
V793I |
probably damaging |
Het |
| Vopp1 |
A |
G |
6: 57,739,492 (GRCm39) |
Y19H |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 20,048,323 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation