Mutagenetix > Incidental Mutation

Incidental Mutation 'R8063:Tet3'

619848

Institutional Source

Beutler Lab

Gene Symbol

Tet3

Ensembl Gene

ENSMUSG00000034832

Gene Name

tet methylcytosine dioxygenase 3

Synonyms

D230004J03Rik, B430006D22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

R8063 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83362373-83459084 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83402741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 815 (D815G)

Ref Sequence

ENSEMBL: ENSMUSP00000139630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089622] [ENSMUST00000186548] [ENSMUST00000190295]

AlphaFold

Q8BG87

Predicted Effect

probably damaging
Transcript: ENSMUST00000089622
AA Change: D680G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: D680G

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: D815G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: D815G

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (53/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	A	11: 105,971,364	I248N	possibly damaging	Het
Agk	T	A	6: 40,329,556	C20S	possibly damaging	Het
Alpk2	G	A	18: 65,350,346	S197L	probably benign	Het
Armc10	T	C	5: 21,648,770		probably null	Het
Asxl2	A	G	12: 3,500,768	T837A	probably benign	Het
Atp12a	A	G	14: 56,366,088	E50G	probably damaging	Het
Bend5	G	T	4: 111,459,834	C398F	probably damaging	Het
Bicra	A	G	7: 15,979,044	V1026A	probably benign	Het
Canx	A	T	11: 50,308,346	Y165*	probably null	Het
Casp14	A	G	10: 78,714,031	F210L	probably damaging	Het
Cep70	T	A	9: 99,296,122	D458E	probably benign	Het
Cisd3	T	C	11: 97,685,884	V12A	probably benign	Het
Cnot4	A	T	6: 35,068,643	M211K	probably damaging	Het
Cyp4f18	A	G	8: 71,998,231	L197P	probably damaging	Het
Dnah5	T	A	15: 28,230,583	I209N	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Edem2	A	T	2: 155,702,456	M458K	probably benign	Het
Eif2ak4	G	A	2: 118,410,901	E178K	possibly damaging	Het
Fars2	G	A	13: 36,204,897	W123*	probably null	Het
Gm884	T	C	11: 103,542,261	T3361A	unknown	Het
Ighv1-20	T	C	12: 114,723,785	Y113C	probably damaging	Het
Il18r1	T	A	1: 40,487,038	I248N	probably benign	Het
Impg2	T	A	16: 56,261,456		probably benign	Het
Kcnh2	T	C	5: 24,321,672	E1042G	probably benign	Het
Krt42	G	C	11: 100,265,039	R294G	possibly damaging	Het
Lasp1	T	C	11: 97,834,131	Y188H	probably benign	Het
Lrrc52	A	G	1: 167,466,521	I65T	probably damaging	Het
Megf9	A	G	4: 70,488,258	C224R	probably damaging	Het
Ms4a10	T	C	19: 10,964,772	T162A	probably benign	Het
Mstn	T	A	1: 53,066,448	F316L	probably benign	Het
Ndufs8	T	C	19: 3,911,019	Y86C	probably damaging	Het
Olfr960	A	T	9: 39,623,527	I133F	probably damaging	Het
Pappa2	C	T	1: 158,936,556	D462N	possibly damaging	Het
Rad51d	A	G	11: 82,889,771	S62P	probably benign	Het
Ralgapa2	A	G	2: 146,443,855	Y388H	probably damaging	Het
Rdm1	C	A	11: 101,630,868	Q150K	probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Sctr	T	C	1: 120,063,275	V446A	probably benign	Het
Sin3b	G	A	8: 72,725,541	D71N	probably damaging	Het
Sirt5	A	T	13: 43,370,847	T32S	probably benign	Het
Slc17a1	T	C	13: 23,875,541	V85A	probably benign	Het
Snx1	C	T	9: 66,097,394		probably benign	Het
Sorcs1	T	A	19: 50,143,977	D1181V	unknown	Het
Tcof1	A	G	18: 60,838,762	S158P	probably damaging	Het
Tnfsf11	A	T	14: 78,278,658	I290N	probably damaging	Het
Uba6	A	T	5: 86,152,685	N225K	probably benign	Het
Usp30	A	G	5: 114,100,463	T11A	probably benign	Het
Vmn1r5	T	G	6: 56,985,598	M86R	probably damaging	Het
Vmn2r26	T	A	6: 124,024,955	H66Q	probably benign	Het
Vps13d	T	C	4: 145,114,757	E2647G		Het
Wdr5b	T	A	16: 36,041,788	D92E	possibly damaging	Het
Zfp960	C	A	17: 17,088,361	R446S	probably benign	Het
Zscan20	C	T	4: 128,586,235	S821N	probably benign	Het

Other mutations in Tet3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Tet3	APN	6	83368655	missense	probably benign	0.06
IGL01396:Tet3	APN	6	83369638	nonsense	probably null
IGL02344:Tet3	APN	6	83403833	missense	probably benign	0.04
IGL02987:Tet3	APN	6	83368092	missense	probably damaging	0.99
IGL03126:Tet3	APN	6	83376787	missense	probably damaging	1.00
IGL03155:Tet3	APN	6	83368383	missense	probably damaging	1.00
IGL03286:Tet3	APN	6	83375778	missense	probably damaging	1.00
Reedy	UTSW	6	83368084	nonsense	probably null
P0033:Tet3	UTSW	6	83368512	missense	probably damaging	1.00
R0131:Tet3	UTSW	6	83368788	missense	probably damaging	1.00
R0295:Tet3	UTSW	6	83369139	missense	probably benign	0.14
R0504:Tet3	UTSW	6	83373794	missense	probably damaging	1.00
R0524:Tet3	UTSW	6	83379942	missense	probably damaging	1.00
R1061:Tet3	UTSW	6	83373323	missense	probably damaging	0.99
R1160:Tet3	UTSW	6	83404452	missense	probably benign	0.00
R1550:Tet3	UTSW	6	83386028	missense	probably damaging	0.97
R1640:Tet3	UTSW	6	83369315	missense	probably benign	0.44
R1658:Tet3	UTSW	6	83369057	missense	probably benign	0.44
R1746:Tet3	UTSW	6	83368068	missense	probably damaging	1.00
R1761:Tet3	UTSW	6	83403659	missense	probably damaging	0.99
R1832:Tet3	UTSW	6	83403645	missense	probably benign
R1835:Tet3	UTSW	6	83404163	missense	possibly damaging	0.95
R1932:Tet3	UTSW	6	83404379	missense	possibly damaging	0.94
R2014:Tet3	UTSW	6	83386075	missense	probably damaging	1.00
R2230:Tet3	UTSW	6	83369471	missense	probably damaging	1.00
R2232:Tet3	UTSW	6	83369471	missense	probably damaging	1.00
R2922:Tet3	UTSW	6	83368512	missense	probably damaging	1.00
R3429:Tet3	UTSW	6	83403419	missense	probably damaging	1.00
R3430:Tet3	UTSW	6	83403419	missense	probably damaging	1.00
R4291:Tet3	UTSW	6	83373199	missense	probably damaging	1.00
R4349:Tet3	UTSW	6	83403275	missense	probably benign
R4809:Tet3	UTSW	6	83402946	missense	probably benign
R4846:Tet3	UTSW	6	83376883	nonsense	probably null
R5039:Tet3	UTSW	6	83375896	missense	probably damaging	1.00
R5233:Tet3	UTSW	6	83386063	missense	probably damaging	1.00
R5363:Tet3	UTSW	6	83376764	critical splice donor site	probably null
R5880:Tet3	UTSW	6	83370550	missense	probably damaging	1.00
R6270:Tet3	UTSW	6	83375791	missense	possibly damaging	0.86
R6277:Tet3	UTSW	6	83368084	nonsense	probably null
R6564:Tet3	UTSW	6	83386070	missense	possibly damaging	0.92
R6622:Tet3	UTSW	6	83403444	missense	probably benign	0.00
R7089:Tet3	UTSW	6	83455024	missense	possibly damaging	0.46
R7244:Tet3	UTSW	6	83370621	missense	probably damaging	1.00
R7251:Tet3	UTSW	6	83404056	missense	probably benign
R7361:Tet3	UTSW	6	83368094	missense	probably benign	0.15
R7436:Tet3	UTSW	6	83368229	small insertion	probably benign
R7438:Tet3	UTSW	6	83368229	small insertion	probably benign
R7544:Tet3	UTSW	6	83404641	missense	probably damaging	1.00
R7552:Tet3	UTSW	6	83368307	missense	probably damaging	1.00
R7942:Tet3	UTSW	6	83376974	missense	probably damaging	1.00
R8010:Tet3	UTSW	6	83403246	missense	unknown
R8307:Tet3	UTSW	6	83379927	missense	probably damaging	1.00
R9016:Tet3	UTSW	6	83368271	missense	probably damaging	1.00
R9020:Tet3	UTSW	6	83404436	missense	probably damaging	1.00
R9377:Tet3	UTSW	6	83403614	missense	possibly damaging	0.95
R9476:Tet3	UTSW	6	83403953	missense	possibly damaging	0.91
R9476:Tet3	UTSW	6	83404826	critical splice acceptor site	probably null
R9510:Tet3	UTSW	6	83403953	missense	possibly damaging	0.91
R9510:Tet3	UTSW	6	83404826	critical splice acceptor site	probably null
R9582:Tet3	UTSW	6	83404244	missense	probably damaging	0.99
R9671:Tet3	UTSW	6	83404154	missense	possibly damaging	0.89
R9801:Tet3	UTSW	6	83369454	missense	possibly damaging	0.94
X0004:Tet3	UTSW	6	83403423	missense	probably benign	0.17
Z1176:Tet3	UTSW	6	83370698	missense	probably damaging	1.00
Z1176:Tet3	UTSW	6	83404350	missense	probably damaging	1.00
Z1176:Tet3	UTSW	6	83459021	missense	unknown
Z1177:Tet3	UTSW	6	83404294	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TTTCCCAGGACACAGCAAAGTG -3'
(R):5'- ATCAACATGTCTCCCAGCTC -3'

Sequencing Primer
(F):5'- AGTGGTAGGCATTTAGTAAACCGTC -3'
(R):5'- TCCGGAGAGCCCTTTTGC -3'

Posted On

2020-01-23