Incidental Mutation 'R7251:Tet3'
| ID |
563923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
045313-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.552)
|
| Stock # |
R7251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83381038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 377
(S377P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
[ENSMUST00000190295]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089622
AA Change: S242P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: S242P
| 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: S377P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: S377P
| 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: 98.9%
|
| Validation Efficiency |
97% (66/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
G |
T |
X: 77,414,311 (GRCm39) |
M345I |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 58,970,974 (GRCm39) |
D186V |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,259,063 (GRCm39) |
D884G |
probably damaging |
Het |
| Akr1c6 |
T |
A |
13: 4,497,019 (GRCm39) |
C154S |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,057,037 (GRCm39) |
Y1840H |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,269,200 (GRCm39) |
E399G |
possibly damaging |
Het |
| Arg2 |
G |
A |
12: 79,197,572 (GRCm39) |
G197S |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,119,481 (GRCm39) |
V308A |
probably damaging |
Het |
| Atcay |
A |
T |
10: 81,046,366 (GRCm39) |
C319* |
probably null |
Het |
| Bend4 |
C |
G |
5: 67,584,876 (GRCm39) |
R16P |
unknown |
Het |
| Braf |
A |
G |
6: 39,654,504 (GRCm39) |
|
probably null |
Het |
| Camsap1 |
T |
C |
2: 25,828,898 (GRCm39) |
E942G |
probably damaging |
Het |
| Cdpf1 |
C |
T |
15: 85,693,494 (GRCm39) |
G11D |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,683,509 (GRCm39) |
E382G |
possibly damaging |
Het |
| Cndp1 |
T |
A |
18: 84,640,322 (GRCm39) |
E294D |
probably benign |
Het |
| Cnn1 |
T |
A |
9: 22,019,513 (GRCm39) |
Y294N |
unknown |
Het |
| Cyp2ab1 |
A |
G |
16: 20,134,646 (GRCm39) |
F104S |
possibly damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,144 (GRCm39) |
V336M |
possibly damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,051,511 (GRCm39) |
D782V |
probably damaging |
Het |
| Ddx39b |
A |
G |
17: 35,472,464 (GRCm39) |
*429W |
probably null |
Het |
| Dgkb |
T |
C |
12: 38,031,985 (GRCm39) |
S16P |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,162,773 (GRCm39) |
C465R |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,377,524 (GRCm39) |
I1770V |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,681,370 (GRCm39) |
N250S |
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,809,425 (GRCm39) |
V1915M |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,515,319 (GRCm39) |
V704M |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,798,942 (GRCm39) |
N323K |
possibly damaging |
Het |
| Hhatl |
A |
T |
9: 121,614,116 (GRCm39) |
|
probably null |
Het |
| Hip1r |
T |
C |
5: 124,132,813 (GRCm39) |
S204P |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,226,875 (GRCm39) |
N2266I |
probably damaging |
Het |
| Krtap15-1 |
A |
G |
16: 88,625,982 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,408,423 (GRCm39) |
D1751G |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,992,521 (GRCm39) |
D1050E |
probably benign |
Het |
| Man1c1 |
C |
T |
4: 134,308,147 (GRCm39) |
G323R |
probably damaging |
Het |
| Mgll |
A |
G |
6: 88,800,357 (GRCm39) |
E252G |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,278,965 (GRCm39) |
N145S |
possibly damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,218,599 (GRCm39) |
S1410N |
probably benign |
Het |
| Nek10 |
A |
G |
14: 14,853,965 (GRCm38) |
T384A |
probably benign |
Het |
| Nexn |
T |
C |
3: 151,952,832 (GRCm39) |
E310G |
probably damaging |
Het |
| Nol10 |
T |
C |
12: 17,452,108 (GRCm39) |
L354P |
probably damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,872 (GRCm39) |
R139G |
probably damaging |
Het |
| Nup160 |
A |
G |
2: 90,530,518 (GRCm39) |
E463G |
probably damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,209 (GRCm39) |
V213A |
probably benign |
Het |
| Or52a33 |
C |
T |
7: 103,288,909 (GRCm39) |
G146D |
probably damaging |
Het |
| Or8j3c |
G |
A |
2: 86,253,940 (GRCm39) |
L27F |
probably benign |
Het |
| Pdzd8 |
A |
T |
19: 59,289,077 (GRCm39) |
N774K |
possibly damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,752,497 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
T |
A |
2: 121,178,052 (GRCm39) |
E283D |
probably benign |
Het |
| Ptpn2 |
A |
C |
18: 67,808,862 (GRCm39) |
I318R |
possibly damaging |
Het |
| Raph1 |
A |
G |
1: 60,529,027 (GRCm39) |
F745L |
unknown |
Het |
| Rgs19 |
C |
T |
2: 181,331,541 (GRCm39) |
V88I |
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,544,449 (GRCm39) |
S733P |
probably benign |
Het |
| Rprd1b |
T |
A |
2: 157,870,899 (GRCm39) |
W29R |
probably damaging |
Het |
| Rtkn |
A |
G |
6: 83,112,943 (GRCm39) |
N5S |
probably damaging |
Het |
| Sh3bp5l |
A |
T |
11: 58,232,128 (GRCm39) |
Q131L |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,131,891 (GRCm39) |
F461I |
possibly damaging |
Het |
| Stk24 |
A |
T |
14: 121,545,434 (GRCm39) |
L108Q |
probably damaging |
Het |
| Syne3 |
TC |
T |
12: 104,927,830 (GRCm39) |
|
probably null |
Het |
| Tapbpl |
A |
T |
6: 125,203,558 (GRCm39) |
V374E |
probably damaging |
Het |
| Tax1bp1 |
A |
G |
6: 52,698,341 (GRCm39) |
I18V |
possibly damaging |
Het |
| Tecta |
T |
A |
9: 42,299,048 (GRCm39) |
I233F |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,154,262 (GRCm39) |
S721P |
probably benign |
Het |
| Wnk4 |
C |
A |
11: 101,155,979 (GRCm39) |
T412K |
possibly damaging |
Het |
| Zdhhc11 |
G |
T |
13: 74,140,216 (GRCm39) |
V336L |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,275,826 (GRCm39) |
S315T |
probably damaging |
Het |
| Zfp746 |
A |
G |
6: 48,041,811 (GRCm39) |
L305P |
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 |
|
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'- GAAAACTCAGGTCTTGGGGTTG -3'
(R):5'- AAGTCTATGGCCATGGAGGG -3'
Sequencing Primer
(F):5'- TGCTGGAGGGAAGGCTG -3'
(R):5'- GCTCTGCCTCCCAGTGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation