Mutagenetix > Incidental Mutation

Incidental Mutation 'P0033:Tet3'

7748

Institutional Source

Beutler Lab

Gene Symbol

Tet3

Ensembl Gene

ENSMUSG00000034832

Gene Name

tet methylcytosine dioxygenase 3

Synonyms

B430006D22Rik, D230004J03Rik

MMRRC Submission

038284-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.640) question?

Stock #

P0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

83339355-83434190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83345494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1648 (S1648P)

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: S1513P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: S1513P

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: S1648P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: S1648P

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

0.3360

Coding Region Coverage

1x: 81.1%
3x: 72.9%
10x: 47.1%
20x: 23.7%

Validation Efficiency

86% (108/125)

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Depdc1a	T	C	3: 159,221,778 (GRCm39)	S241P	probably damaging	Het
Dusp19	T	A	2: 80,447,729 (GRCm39)	M1K	probably null	Het
Egfem1	G	C	3: 29,744,340 (GRCm39)	Q526H	probably damaging	Het
Gm10856	C	A	15: 79,730,023 (GRCm39)		noncoding transcript	Het
Gm5901	A	G	7: 105,026,712 (GRCm39)	Y160C	probably damaging	Het
Hmg20a	A	G	9: 56,397,108 (GRCm39)	S303G	probably benign	Het
Lmbrd1	A	G	1: 24,724,646 (GRCm39)	T77A	possibly damaging	Het
Map3k5	C	T	10: 20,007,959 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,402,255 (GRCm39)	V696I	probably benign	Het
Orm3	A	T	4: 63,274,539 (GRCm39)	T35S	probably damaging	Het
Pdgfra	A	G	5: 75,353,222 (GRCm39)	E1004G	probably damaging	Het
Pigg	T	A	5: 108,489,944 (GRCm39)	F850I	probably damaging	Het
Ppip5k2	A	G	1: 97,645,253 (GRCm39)	V1067A	probably damaging	Het
Ptprd	T	A	4: 76,047,091 (GRCm39)	R392*	probably null	Het
Rad54b	T	A	4: 11,609,285 (GRCm39)		probably benign	Het
Rapgef4	T	C	2: 71,967,675 (GRCm39)		probably benign	Het
Rasef	T	C	4: 73,668,089 (GRCm39)	N134S	probably benign	Het
Sfswap	C	T	5: 129,616,819 (GRCm39)	P421L	possibly damaging	Het
Sorcs1	T	A	19: 50,141,345 (GRCm39)	I1129F	probably damaging	Het
Spats2l	G	A	1: 57,924,997 (GRCm39)	E132K	probably damaging	Het
Ttc16	T	A	2: 32,652,586 (GRCm39)	T691S	probably benign	Het
Usp38	C	T	8: 81,708,525 (GRCm39)	D1018N	probably benign	Het
Zcchc14	A	C	8: 122,336,898 (GRCm39)		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
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
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

Posted On

2012-10-29