Incidental Mutation 'R1832:Tet3'
| ID |
204866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
039859-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.552)
|
| Stock # |
R1832 (G1)
|
| Quality Score |
210 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83380627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 514
(S514P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
[ENSMUST00000190295]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000056191
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089622
AA Change: S379P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: S379P
| 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 |
noncoding transcript
Transcript: ENSMUST00000184003
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186548
AA Change: S514P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: S514P
| 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 |
|
| Meta Mutation Damage Score |
0.0836 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (82/82) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,350,509 (GRCm39) |
D143V |
unknown |
Het |
| Abca8a |
A |
T |
11: 109,962,277 (GRCm39) |
N525K |
probably damaging |
Het |
| Abhd12 |
T |
A |
2: 150,690,338 (GRCm39) |
D119V |
probably damaging |
Het |
| Adamts20 |
A |
T |
15: 94,184,225 (GRCm39) |
M1526K |
probably benign |
Het |
| Ankdd1a |
A |
T |
9: 65,411,771 (GRCm39) |
|
probably null |
Het |
| Ankrd1 |
C |
T |
19: 36,092,378 (GRCm39) |
C283Y |
possibly damaging |
Het |
| Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
| Bhlhe22 |
G |
A |
3: 18,109,139 (GRCm39) |
C63Y |
probably damaging |
Het |
| Bmp8a |
A |
T |
4: 123,218,885 (GRCm39) |
|
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
| Ccdc88b |
G |
A |
19: 6,830,900 (GRCm39) |
Q681* |
probably null |
Het |
| Cep104 |
T |
A |
4: 154,087,003 (GRCm39) |
V842E |
probably benign |
Het |
| Chac2 |
T |
C |
11: 30,927,568 (GRCm39) |
N117S |
probably benign |
Het |
| Cimap3 |
C |
T |
3: 105,921,912 (GRCm39) |
E4K |
possibly damaging |
Het |
| Cldn8 |
T |
A |
16: 88,359,746 (GRCm39) |
I60F |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,970,850 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
A |
G |
8: 11,264,644 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
G |
T |
7: 26,011,635 (GRCm39) |
E285D |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,426,928 (GRCm39) |
G176D |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,368,233 (GRCm39) |
Y246D |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,580,493 (GRCm39) |
K118R |
probably damaging |
Het |
| Dync2i1 |
T |
A |
12: 116,171,363 (GRCm39) |
S958C |
probably damaging |
Het |
| Eif3h |
T |
C |
15: 51,728,832 (GRCm39) |
T8A |
possibly damaging |
Het |
| Fbh1 |
G |
T |
2: 11,772,211 (GRCm39) |
L157I |
probably benign |
Het |
| Fbxo40 |
C |
A |
16: 36,789,218 (GRCm39) |
G631* |
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,279,281 (GRCm39) |
|
probably null |
Het |
| Galc |
A |
G |
12: 98,200,499 (GRCm39) |
|
probably null |
Het |
| Garin2 |
G |
A |
12: 78,762,280 (GRCm39) |
|
probably benign |
Het |
| H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
| Igkv13-54-1 |
A |
T |
6: 69,594,277 (GRCm39) |
M31L |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,041,933 (GRCm39) |
R67Q |
possibly damaging |
Het |
| Lcn10 |
A |
G |
2: 25,575,151 (GRCm39) |
D173G |
probably damaging |
Het |
| Llgl2 |
G |
T |
11: 115,741,926 (GRCm39) |
R656L |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
| Ly6d |
T |
C |
15: 74,634,615 (GRCm39) |
K46E |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,975,306 (GRCm39) |
N88D |
probably damaging |
Het |
| Mertk |
A |
T |
2: 128,604,132 (GRCm39) |
E422V |
probably benign |
Het |
| Mixl1 |
A |
G |
1: 180,522,296 (GRCm39) |
V195A |
probably benign |
Het |
| Nmnat3 |
T |
C |
9: 98,281,521 (GRCm39) |
V41A |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,319 (GRCm39) |
N38K |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,834 (GRCm39) |
R305G |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,492 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,684,886 (GRCm39) |
E751V |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,635,189 (GRCm39) |
S355G |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,390,134 (GRCm39) |
V821A |
probably damaging |
Het |
| Plxna4 |
A |
C |
6: 32,174,761 (GRCm39) |
D1109E |
probably benign |
Het |
| Ppard |
A |
G |
17: 28,516,084 (GRCm39) |
M103V |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,145,218 (GRCm39) |
E44G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,804,752 (GRCm39) |
T515A |
probably benign |
Het |
| Rin2 |
A |
G |
2: 145,703,091 (GRCm39) |
I596V |
possibly damaging |
Het |
| Rnls |
A |
G |
19: 33,145,895 (GRCm39) |
S75P |
possibly damaging |
Het |
| Rsph10b |
A |
T |
5: 143,903,997 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Runx1t1 |
C |
T |
4: 13,835,628 (GRCm39) |
|
probably benign |
Het |
| Sardh |
A |
G |
2: 27,125,581 (GRCm39) |
V311A |
possibly damaging |
Het |
| Sbno2 |
G |
T |
10: 79,896,439 (GRCm39) |
Y889* |
probably null |
Het |
| Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
| Sema4g |
T |
A |
19: 44,987,456 (GRCm39) |
V534E |
probably benign |
Het |
| Shoc1 |
T |
G |
4: 59,066,441 (GRCm39) |
I768L |
probably benign |
Het |
| Slc10a1 |
G |
A |
12: 81,000,446 (GRCm39) |
S351F |
probably benign |
Het |
| Slc19a3 |
A |
T |
1: 83,000,468 (GRCm39) |
V183E |
probably damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,164,054 (GRCm39) |
Y74H |
possibly damaging |
Het |
| Slc6a19 |
T |
A |
13: 73,841,069 (GRCm39) |
I114L |
probably benign |
Het |
| Smpd2 |
A |
T |
10: 41,364,232 (GRCm39) |
C189S |
probably benign |
Het |
| Spon1 |
T |
A |
7: 113,616,018 (GRCm39) |
V295D |
probably benign |
Het |
| Tnk1 |
T |
C |
11: 69,747,754 (GRCm39) |
I49M |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,337,619 (GRCm39) |
T431A |
probably benign |
Het |
| Vgf |
A |
T |
5: 137,060,153 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Vmn1r37 |
G |
T |
6: 66,708,780 (GRCm39) |
L135F |
probably benign |
Het |
| Vps37d |
C |
T |
5: 135,102,594 (GRCm39) |
A128T |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,650,197 (GRCm39) |
D323G |
probably benign |
Het |
| Zfp456 |
T |
A |
13: 67,515,482 (GRCm39) |
I75L |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,264,780 (GRCm39) |
I593V |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCAGGGGTGGTTTTCTC -3'
(R):5'- CTGACCCTATGGCAGAACTG -3'
Sequencing Primer
(F):5'- TCTCTGCTCCCACGGGAC -3'
(R):5'- ACTGGAGCAGCTATTGGGC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation