Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00929:Tet3'

27631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tet3

Ensembl Gene

ENSMUSG00000034832

Gene Name

tet methylcytosine dioxygenase 3

Synonyms

B430006D22Rik, D230004J03Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

IGL00929

Quality Score

Status

Chromosome

Chromosomal Location

83339355-83434190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83345637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1600 (L1600P)

Ref Sequence

ENSEMBL: ENSMUSP00000139630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089622] [ENSMUST00000186548]

AlphaFold

Q8BG87

Predicted Effect

probably benign
Transcript: ENSMUST00000089622
AA Change: L1465P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: L1465P

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: L1600P

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: L1600P

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	A	T	12: 30,954,899 (GRCm39)	H67Q	probably damaging	Het
Ankrd13b	A	G	11: 77,363,578 (GRCm39)	S247P	probably damaging	Het
Aqp4	C	T	18: 15,526,656 (GRCm39)	G275E	probably benign	Het
Arhgef15	A	T	11: 68,844,928 (GRCm39)	L223Q	probably damaging	Het
Asb13	A	G	13: 3,699,427 (GRCm39)	Y209C	probably damaging	Het
Cdk18	A	G	1: 132,046,257 (GRCm39)		probably null	Het
Cntnap5a	G	A	1: 115,988,004 (GRCm39)		probably null	Het
Cops6	A	G	5: 138,159,648 (GRCm39)	M1V	probably null	Het
Dab2ip	A	T	2: 35,598,889 (GRCm39)	M137L	possibly damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Lemd1	A	G	1: 132,184,447 (GRCm39)	D73G	probably benign	Het
Lpin1	G	A	12: 16,623,700 (GRCm39)	S228L	probably benign	Het
Mtcl3	C	A	10: 29,024,288 (GRCm39)	N401K	probably damaging	Het
Mtmr9	A	G	14: 63,780,946 (GRCm39)	L48P	probably damaging	Het
Ncoa3	T	A	2: 165,893,529 (GRCm39)		probably null	Het
Ndc1	T	A	4: 107,246,694 (GRCm39)	N372K	probably benign	Het
Ndufa2	A	G	18: 36,877,228 (GRCm39)		probably benign	Het
Nmt1	A	T	11: 102,950,902 (GRCm39)		probably null	Het
Or52s1	A	T	7: 102,861,892 (GRCm39)	H264L	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,758 (GRCm39)	Y489H	probably damaging	Het
Rttn	A	T	18: 89,047,059 (GRCm39)	K907M	probably damaging	Het
Sos1	T	C	17: 80,716,025 (GRCm39)	Y979C	probably damaging	Het
Spag6l	C	T	16: 16,584,877 (GRCm39)	A424T	possibly damaging	Het
Stt3b	A	T	9: 115,095,233 (GRCm39)	I266N	probably damaging	Het
Tiam1	T	A	16: 89,591,627 (GRCm39)	I1358F	probably damaging	Het
Usp37	G	T	1: 74,529,313 (GRCm39)	T122N	probably benign	Het
Vit	T	C	17: 78,886,830 (GRCm39)	S153P	probably damaging	Het

Other mutations in Tet3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-04-17