Incidental Mutation 'R8307:Tet3'
| ID |
641128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tet3
|
| Ensembl Gene |
ENSMUSG00000034832 |
| Gene Name |
tet methylcytosine dioxygenase 3 |
| Synonyms |
B430006D22Rik, D230004J03Rik |
| MMRRC Submission |
067717-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R8307 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83339355-83434190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83356909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 883
(V883A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089622]
[ENSMUST00000186548]
|
| AlphaFold |
Q8BG87 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089622
AA Change: V748A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: V748A
| 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: V883A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: V883A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (56/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
C |
A |
4: 148,025,837 (GRCm39) |
T119K |
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,227,922 (GRCm39) |
L655* |
probably null |
Het |
| Aifm2 |
A |
G |
10: 61,562,171 (GRCm39) |
Y69C |
probably damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,320,030 (GRCm39) |
V448I |
probably benign |
Het |
| Barx2 |
A |
G |
9: 31,770,307 (GRCm39) |
S74P |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,978,498 (GRCm39) |
K939E |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,358,949 (GRCm39) |
F124L |
probably benign |
Het |
| Cdh12 |
T |
A |
15: 21,358,950 (GRCm39) |
Y125N |
probably damaging |
Het |
| Cdx2 |
A |
G |
5: 147,243,477 (GRCm39) |
Y106H |
possibly damaging |
Het |
| Chmp1a |
C |
T |
8: 123,932,980 (GRCm39) |
G158S |
probably damaging |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,079,702 (GRCm39) |
Y1277F |
possibly damaging |
Het |
| Csde1 |
A |
G |
3: 102,946,389 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,744,109 (GRCm39) |
D1317A |
probably benign |
Het |
| Dgcr2 |
C |
T |
16: 17,676,242 (GRCm39) |
G176D |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,260,362 (GRCm39) |
M993K |
possibly damaging |
Het |
| Dpy19l1 |
G |
A |
9: 24,414,297 (GRCm39) |
P44S |
probably benign |
Het |
| Dsg2 |
C |
T |
18: 20,708,121 (GRCm39) |
P74L |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,065,894 (GRCm39) |
F2078Y |
probably damaging |
Het |
| Fancl |
A |
G |
11: 26,349,642 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
A |
2: 125,347,402 (GRCm39) |
R41L |
possibly damaging |
Het |
| Gemin5 |
G |
A |
11: 58,042,420 (GRCm39) |
T467M |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,330,707 (GRCm39) |
Q102R |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,286,127 (GRCm39) |
D2093G |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Igkv1-131 |
A |
G |
6: 67,743,051 (GRCm39) |
Y111H |
probably damaging |
Het |
| Il6st |
G |
T |
13: 112,624,281 (GRCm39) |
G177V |
probably benign |
Het |
| Kank4 |
G |
A |
4: 98,666,915 (GRCm39) |
Q511* |
probably null |
Het |
| Krt90 |
A |
G |
15: 101,467,634 (GRCm39) |
L248P |
probably damaging |
Het |
| Krtap5-2 |
A |
G |
7: 141,728,586 (GRCm39) |
C187R |
unknown |
Het |
| Lonp1 |
C |
A |
17: 56,933,573 (GRCm39) |
A101S |
probably benign |
Het |
| Nckap5l |
A |
G |
15: 99,321,058 (GRCm39) |
C1241R |
probably damaging |
Het |
| Or1j11 |
A |
G |
2: 36,312,333 (GRCm39) |
T308A |
probably benign |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or6c203 |
T |
C |
10: 129,010,101 (GRCm39) |
D263G |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,342,307 (GRCm39) |
C1131* |
probably null |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,847 (GRCm39) |
D416G |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,284,894 (GRCm39) |
M786T |
possibly damaging |
Het |
| Pink1 |
A |
T |
4: 138,045,273 (GRCm39) |
M297K |
probably benign |
Het |
| Pln |
T |
C |
10: 53,219,975 (GRCm39) |
Y6H |
unknown |
Het |
| Ppp2r2c |
A |
G |
5: 37,104,430 (GRCm39) |
D270G |
probably damaging |
Het |
| Pramel58 |
T |
G |
5: 94,831,416 (GRCm39) |
L141R |
probably damaging |
Het |
| Prcd |
A |
T |
11: 116,550,199 (GRCm39) |
T76S |
possibly damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,721,137 (GRCm39) |
|
probably null |
Het |
| Rab11fip4 |
A |
T |
11: 79,581,600 (GRCm39) |
N532Y |
possibly damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,788,308 (GRCm39) |
V592L |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,753,498 (GRCm39) |
D793G |
probably damaging |
Het |
| Sec14l1 |
G |
A |
11: 117,034,242 (GRCm39) |
|
probably null |
Het |
| Srcap |
T |
A |
7: 127,124,541 (GRCm39) |
V237E |
probably damaging |
Het |
| Srl |
A |
G |
16: 4,315,009 (GRCm39) |
I211T |
probably benign |
Het |
| Tasor |
G |
T |
14: 27,193,622 (GRCm39) |
A941S |
probably damaging |
Het |
| Trim46 |
A |
G |
3: 89,151,223 (GRCm39) |
Y113H |
probably benign |
Het |
| Trim58 |
G |
A |
11: 58,537,909 (GRCm39) |
A267T |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,086 (GRCm39) |
G140S |
|
Het |
| Vmn2r110 |
C |
A |
17: 20,803,319 (GRCm39) |
V419L |
probably benign |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,270 (GRCm39) |
F249L |
probably benign |
Het |
| Vps8 |
A |
C |
16: 21,314,652 (GRCm39) |
D584A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,063 (GRCm39) |
C394S |
probably damaging |
Het |
| Zscan4e |
A |
G |
7: 11,041,059 (GRCm39) |
I271T |
probably benign |
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 |
|
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 |
|
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'- AGCTGCCACAAGGGTCATTG -3'
(R):5'- GGAGCATCTGGAAATGGCTG -3'
Sequencing Primer
(F):5'- ACAAGGGTCATTGGCTCCAG -3'
(R):5'- CATCTGGAAATGGCTGAGAGTCTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation