Incidental Mutation 'R1640:Tet3'
ID |
173454 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tet3
|
Ensembl Gene |
ENSMUSG00000034832 |
Gene Name |
tet methylcytosine dioxygenase 3 |
Synonyms |
B430006D22Rik, D230004J03Rik |
MMRRC Submission |
039676-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.640)
|
Stock # |
R1640 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83346297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 1245
(V1245D)
|
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: V1245D
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000087049 Gene: ENSMUSG00000034832 AA Change: V1245D
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: V1380D
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000139630 Gene: ENSMUSG00000034832 AA Change: V1380D
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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.2%
|
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
C |
A |
8: 125,566,584 (GRCm39) |
V279L |
probably damaging |
Het |
Acot6 |
A |
T |
12: 84,147,900 (GRCm39) |
Y52F |
probably damaging |
Het |
Adam22 |
C |
T |
5: 8,195,689 (GRCm39) |
V284I |
probably damaging |
Het |
Agl |
A |
T |
3: 116,545,739 (GRCm39) |
H1352Q |
probably benign |
Het |
Aldh18a1 |
G |
A |
19: 40,573,943 (GRCm39) |
P27S |
probably benign |
Het |
C1ra |
A |
G |
6: 124,499,233 (GRCm39) |
N473S |
probably benign |
Het |
C87436 |
T |
C |
6: 86,423,233 (GRCm39) |
L269P |
probably damaging |
Het |
Calcrl |
A |
G |
2: 84,164,021 (GRCm39) |
V390A |
probably damaging |
Het |
Ccp110 |
T |
G |
7: 118,314,751 (GRCm39) |
|
probably null |
Het |
Cerk |
A |
G |
15: 86,033,601 (GRCm39) |
V274A |
probably damaging |
Het |
Chd1l |
A |
T |
3: 97,488,307 (GRCm39) |
S570T |
probably benign |
Het |
Chst14 |
T |
A |
2: 118,757,379 (GRCm39) |
W83R |
probably damaging |
Het |
Chsy1 |
A |
T |
7: 65,821,262 (GRCm39) |
D499V |
probably benign |
Het |
Ckmt1 |
C |
A |
2: 121,190,198 (GRCm39) |
|
probably null |
Het |
Cnot1 |
A |
T |
8: 96,496,460 (GRCm39) |
V282D |
probably damaging |
Het |
Cntn3 |
A |
T |
6: 102,218,974 (GRCm39) |
S549T |
possibly damaging |
Het |
Cntnap5c |
A |
T |
17: 58,702,289 (GRCm39) |
D1203V |
probably benign |
Het |
Col4a4 |
A |
G |
1: 82,513,491 (GRCm39) |
Y169H |
unknown |
Het |
Cwc22 |
A |
G |
2: 77,745,874 (GRCm39) |
F454S |
possibly damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dhrs7 |
A |
T |
12: 72,699,089 (GRCm39) |
W298R |
possibly damaging |
Het |
Dock7 |
G |
T |
4: 98,833,483 (GRCm39) |
T1906N |
probably damaging |
Het |
Dpy19l3 |
T |
C |
7: 35,449,203 (GRCm39) |
T67A |
probably benign |
Het |
Drc1 |
A |
G |
5: 30,521,301 (GRCm39) |
D654G |
possibly damaging |
Het |
Ech1 |
A |
T |
7: 28,531,264 (GRCm39) |
H284L |
probably damaging |
Het |
Epc1 |
G |
A |
18: 6,441,175 (GRCm39) |
Q8* |
probably null |
Het |
Etv5 |
A |
T |
16: 22,254,664 (GRCm39) |
D65E |
probably damaging |
Het |
F2rl3 |
A |
G |
8: 73,489,534 (GRCm39) |
R254G |
probably benign |
Het |
Fabp5 |
T |
G |
3: 10,080,170 (GRCm39) |
F73L |
probably benign |
Het |
Fbrs |
T |
C |
7: 127,086,483 (GRCm39) |
I611T |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,433,806 (GRCm39) |
S117P |
possibly damaging |
Het |
Frmd4b |
A |
C |
6: 97,285,634 (GRCm39) |
S291A |
possibly damaging |
Het |
Galnt13 |
A |
G |
2: 54,950,558 (GRCm39) |
Y413C |
probably damaging |
Het |
Gfer |
A |
G |
17: 24,914,337 (GRCm39) |
Y109H |
possibly damaging |
Het |
Gli2 |
T |
C |
1: 118,764,254 (GRCm39) |
H1299R |
possibly damaging |
Het |
Gm10110 |
T |
C |
14: 90,135,679 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5a |
T |
G |
6: 135,055,652 (GRCm39) |
L33W |
probably damaging |
Het |
Grin3a |
T |
C |
4: 49,844,721 (GRCm39) |
T121A |
probably benign |
Het |
Grk3 |
A |
G |
5: 113,163,248 (GRCm39) |
V33A |
probably benign |
Het |
Hc |
A |
T |
2: 34,947,336 (GRCm39) |
Y59* |
probably null |
Het |
Hrnr |
A |
G |
3: 93,239,823 (GRCm39) |
I3354V |
unknown |
Het |
Hyou1 |
C |
G |
9: 44,300,703 (GRCm39) |
T924S |
probably benign |
Het |
Ifi209 |
T |
G |
1: 173,464,931 (GRCm39) |
H20Q |
probably damaging |
Het |
Ifi44 |
A |
G |
3: 151,438,171 (GRCm39) |
V372A |
probably benign |
Het |
Igdcc4 |
T |
A |
9: 65,030,077 (GRCm39) |
L328H |
probably damaging |
Het |
Jkampl |
A |
G |
6: 73,445,869 (GRCm39) |
Y227H |
probably benign |
Het |
Kif18a |
A |
G |
2: 109,120,161 (GRCm39) |
T155A |
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,742,938 (GRCm39) |
|
probably benign |
Het |
Kri1 |
T |
C |
9: 21,191,753 (GRCm39) |
D281G |
possibly damaging |
Het |
Larp1b |
T |
A |
3: 40,988,507 (GRCm39) |
M1K |
probably null |
Het |
Loxhd1 |
A |
G |
18: 77,490,259 (GRCm39) |
D1225G |
probably damaging |
Het |
Mzf1 |
A |
G |
7: 12,777,197 (GRCm39) |
*736Q |
probably null |
Het |
Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
Ncf2 |
T |
A |
1: 152,683,784 (GRCm39) |
M1K |
probably null |
Het |
Or5t15 |
T |
A |
2: 86,681,571 (GRCm39) |
H157L |
probably benign |
Het |
Or8h10 |
A |
C |
2: 86,808,963 (GRCm39) |
M59R |
probably damaging |
Het |
Parp12 |
T |
C |
6: 39,073,574 (GRCm39) |
D417G |
probably benign |
Het |
Parp12 |
T |
C |
6: 39,088,612 (GRCm39) |
H208R |
probably damaging |
Het |
Pcif1 |
T |
C |
2: 164,727,603 (GRCm39) |
I132T |
probably benign |
Het |
Pck2 |
A |
G |
14: 55,786,041 (GRCm39) |
D610G |
possibly damaging |
Het |
Plbd1 |
T |
C |
6: 136,617,123 (GRCm39) |
K185E |
probably benign |
Het |
Ppp2r5a |
T |
C |
1: 191,086,126 (GRCm39) |
M425V |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,548,231 (GRCm39) |
V805D |
probably damaging |
Het |
Rprd2 |
C |
T |
3: 95,671,059 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,731,178 (GRCm39) |
S711P |
probably damaging |
Het |
Slc17a3 |
T |
A |
13: 24,036,340 (GRCm39) |
L212* |
probably null |
Het |
Slc4a8 |
A |
G |
15: 100,681,668 (GRCm39) |
D41G |
probably benign |
Het |
Slc9a3 |
T |
A |
13: 74,306,937 (GRCm39) |
V354E |
probably damaging |
Het |
Spen |
A |
G |
4: 141,196,254 (GRCm39) |
I3632T |
probably damaging |
Het |
Tesc |
A |
G |
5: 118,192,914 (GRCm39) |
S77G |
probably benign |
Het |
Tox4 |
T |
A |
14: 52,530,000 (GRCm39) |
D553E |
possibly damaging |
Het |
Tpmt |
A |
T |
13: 47,180,759 (GRCm39) |
Y193* |
probably null |
Het |
Trio |
T |
C |
15: 27,833,130 (GRCm39) |
Y1169C |
probably damaging |
Het |
Urb1 |
G |
A |
16: 90,569,514 (GRCm39) |
T1404I |
probably benign |
Het |
Usp47 |
T |
C |
7: 111,682,334 (GRCm39) |
S540P |
probably damaging |
Het |
Vmn1r178 |
A |
T |
7: 23,593,548 (GRCm39) |
M126L |
possibly damaging |
Het |
Vmn1r223 |
T |
C |
13: 23,434,348 (GRCm39) |
F314S |
probably damaging |
Het |
Vmn2r112 |
A |
T |
17: 22,824,097 (GRCm39) |
I451L |
probably benign |
Het |
Zfc3h1 |
A |
G |
10: 115,242,806 (GRCm39) |
|
probably null |
Het |
Zfp503 |
A |
T |
14: 22,034,969 (GRCm39) |
L649Q |
probably damaging |
Het |
Zfp977 |
A |
C |
7: 42,229,530 (GRCm39) |
C332G |
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 |
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'- CAGTTGCCACCTACACTGTTAGTCC -3'
(R):5'- TGAGAAGAAGCCAGACCTCCATGC -3'
Sequencing Primer
(F):5'- TGAGTACTGTCCCCACAGATG -3'
(R):5'- TGCTCTACACAACAGCCTG -3'
|
Posted On |
2014-04-24 |