Incidental Mutation 'R0295:Tet3'
| ID |
37674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
038512-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R0295 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83346121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1304
(P1304S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089622
AA Change: P1304S
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: P1304S
| 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 benign
Transcript: ENSMUST00000186548
AA Change: P1439S
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: P1439S
| 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 |
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
G |
A |
10: 76,290,642 (GRCm39) |
S127N |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,767,478 (GRCm39) |
R953G |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,197,213 (GRCm39) |
|
probably null |
Het |
| Adh4 |
A |
G |
3: 138,134,837 (GRCm39) |
D337G |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,052,181 (GRCm39) |
Y1207* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,920,357 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,366,298 (GRCm39) |
I1065T |
probably benign |
Het |
| Cacna1i |
T |
A |
15: 80,240,412 (GRCm39) |
L378Q |
probably damaging |
Het |
| Ccdc127 |
C |
A |
13: 74,504,989 (GRCm39) |
P179H |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,321,655 (GRCm39) |
K586N |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,373,683 (GRCm39) |
E1321A |
probably damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,112,939 (GRCm39) |
I173N |
probably damaging |
Het |
| Ctc1 |
A |
G |
11: 68,921,414 (GRCm39) |
K682E |
possibly damaging |
Het |
| Cux1 |
A |
C |
5: 136,342,066 (GRCm39) |
V442G |
probably benign |
Het |
| Dph2 |
A |
T |
4: 117,748,127 (GRCm39) |
V150E |
possibly damaging |
Het |
| Etv6 |
A |
G |
6: 134,243,238 (GRCm39) |
D331G |
probably benign |
Het |
| Fbxo42 |
A |
G |
4: 140,927,808 (GRCm39) |
D696G |
probably damaging |
Het |
| Fbxo8 |
G |
A |
8: 57,043,109 (GRCm39) |
D198N |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,793,840 (GRCm39) |
T73A |
possibly damaging |
Het |
| H2aj |
C |
G |
6: 136,785,602 (GRCm39) |
R89G |
probably damaging |
Het |
| Ifng |
G |
T |
10: 118,277,154 (GRCm39) |
S32I |
possibly damaging |
Het |
| Ildr1 |
A |
G |
16: 36,529,839 (GRCm39) |
|
probably null |
Het |
| Knl1 |
A |
C |
2: 118,919,320 (GRCm39) |
D1824A |
probably damaging |
Het |
| Lamp3 |
A |
T |
16: 19,519,858 (GRCm39) |
Y108* |
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,436,860 (GRCm39) |
I69V |
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,434,656 (GRCm39) |
V1349E |
probably benign |
Het |
| Lrrcc1 |
A |
T |
3: 14,630,909 (GRCm39) |
E1009D |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Med14 |
G |
C |
X: 12,551,987 (GRCm39) |
R1223G |
probably damaging |
Het |
| Mesd |
C |
T |
7: 83,547,073 (GRCm39) |
Q179* |
probably null |
Het |
| Myh7 |
A |
G |
14: 55,222,278 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,190,861 (GRCm39) |
I804T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,174,297 (GRCm39) |
I1521V |
possibly damaging |
Het |
| Nosip |
T |
A |
7: 44,726,340 (GRCm39) |
I249N |
probably damaging |
Het |
| Nostrin |
A |
C |
2: 69,009,760 (GRCm39) |
E296A |
probably benign |
Het |
| Oprk1 |
T |
C |
1: 5,669,073 (GRCm39) |
L173S |
possibly damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,182 (GRCm39) |
I45F |
probably damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,499 (GRCm39) |
V225D |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5p1 |
T |
G |
7: 107,916,892 (GRCm39) |
S264A |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,025,511 (GRCm39) |
V328A |
probably benign |
Het |
| Podxl2 |
A |
T |
6: 88,826,660 (GRCm39) |
S215R |
probably benign |
Het |
| Prss36 |
T |
G |
7: 127,535,027 (GRCm39) |
T418P |
possibly damaging |
Het |
| Ralgps2 |
T |
A |
1: 156,651,555 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,427,863 (GRCm39) |
|
probably null |
Het |
| Rgs1 |
A |
T |
1: 144,121,224 (GRCm39) |
I149N |
probably damaging |
Het |
| Rgs16 |
A |
G |
1: 153,619,483 (GRCm39) |
E163G |
probably damaging |
Het |
| Rnf121 |
A |
G |
7: 101,684,553 (GRCm39) |
F120S |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,169 (GRCm39) |
Y823* |
probably null |
Het |
| Spdl1 |
A |
T |
11: 34,704,170 (GRCm39) |
N554K |
possibly damaging |
Het |
| St6gal1 |
T |
A |
16: 23,174,953 (GRCm39) |
|
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,372 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
T |
A |
5: 120,677,125 (GRCm39) |
I687F |
probably damaging |
Het |
| Trim46 |
A |
G |
3: 89,152,420 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
T |
A |
7: 67,319,600 (GRCm39) |
|
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,045,540 (GRCm39) |
V586L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,588,955 (GRCm39) |
|
probably benign |
Het |
| Uba3 |
A |
T |
6: 97,168,544 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Usp32 |
A |
G |
11: 84,944,518 (GRCm39) |
S316P |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,860,310 (GRCm39) |
I352M |
probably benign |
Het |
| Zcwpw1 |
G |
T |
5: 137,815,734 (GRCm39) |
L412F |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,281 (GRCm39) |
N2254K |
probably damaging |
Het |
| Zscan4e |
A |
G |
7: 11,041,543 (GRCm39) |
S138P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGAACAGTCCCCACTGGCTTTC -3'
(R):5'- TGGCTTTCCATCAAGCAACCCTG -3'
Sequencing Primer
(F):5'- TCTGGGAAGTGTGAAGGAGTG -3'
(R):5'- GGAATATCTGCTACCCAAGGTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation