Mutagenetix > Incidental Mutation

Incidental Mutation 'R7942:Tet3'

649102

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 #

R7942 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83362373-83459084 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83376974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 902 (V902M)

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: V767M

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

SMART Domains

Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: V767M

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: V902M

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

SMART Domains

Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: V902M

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

0.1992

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (51/51)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	A	G	8: 11,655,615	I164T	unknown	Het
Abcg3	A	G	5: 104,939,161	I565T	probably damaging	Het
Adamts8	G	A	9: 30,953,482	C423Y	probably damaging	Het
Adamts8	G	A	9: 30,958,913		probably null	Het
Ahctf1	A	C	1: 179,786,095	V490G	possibly damaging	Het
Akap13	A	G	7: 75,611,470	T478A	possibly damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Ano9	T	C	7: 141,104,076	S559G	probably damaging	Het
Aox2	A	G	1: 58,337,431	T924A	probably damaging	Het
Atp13a1	A	G	8: 69,807,220	E1126G	probably damaging	Het
Bcan	A	G	3: 87,993,075	V617A	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cldnd1	A	T	16: 58,729,715	N87I	possibly damaging	Het
Enpp2	A	T	15: 54,845,879	V784E	probably damaging	Het
Eps8	T	A	6: 137,530,577	Y51F	possibly damaging	Het
Fam184b	T	C	5: 45,584,253	K212R	probably benign	Het
Fbn1	A	C	2: 125,412,786	C186G	possibly damaging	Het
Fsip1	G	A	2: 118,136,611	T411I	probably benign	Het
Glyr1	T	C	16: 5,018,921	T460A	probably benign	Het
Gm19410	G	A	8: 35,771,786	G70R	probably damaging	Het
Gna15	G	A	10: 81,523,911	T15I	probably damaging	Het
Heg1	T	C	16: 33,751,200	C1198R	probably damaging	Het
Hoxd1	A	G	2: 74,764,160	Y253C	probably damaging	Het
Il17re	G	T	6: 113,466,150	Q316H	probably damaging	Het
Jakmip1	C	A	5: 37,173,838	P621T	probably benign	Het
Krt71	T	C	15: 101,735,459	Y448C	probably damaging	Het
Lgals8	A	G	13: 12,453,256		probably null	Het
March11	A	G	15: 26,409,419	*401W	probably null	Het
Mctp1	A	T	13: 76,641,710		probably null	Het
Mms19	C	A	19: 41,955,961	V310F	probably damaging	Het
Mycbp2	A	T	14: 103,155,238	F3296I	probably damaging	Het
Myo7b	A	T	18: 32,013,369	I121N	probably damaging	Het
Nr0b2	T	C	4: 133,553,536	S38P	probably benign	Het
Nudt16l1	T	A	16: 4,939,379	M52K	probably benign	Het
Olfr1079	T	C	2: 86,538,222	N229S	probably benign	Het
Olfr399	A	G	11: 74,054,228	I177T	probably damaging	Het
Polr3gl	A	T	3: 96,582,236		probably null	Het
Ptch2	T	A	4: 117,106,001	F228L	probably benign	Het
Slc35d1	A	G	4: 103,213,163		probably null	Het
Slc41a1	G	A	1: 131,840,897	V198I	probably damaging	Het
Slc5a7	T	C	17: 54,276,681	D527G	possibly damaging	Het
Spag16	G	T	1: 69,827,088	A29S	probably benign	Het
Speer4f2	T	A	5: 17,377,632	D284E	unknown	Het
Sspo	A	G	6: 48,488,500		probably null	Het
Tdpoz1	T	C	3: 93,671,210	K89R	possibly damaging	Het
Tek	C	T	4: 94,851,874		probably null	Het
Tpcn2	C	T	7: 145,257,191	V590M	probably damaging	Het
Trcg1	T	C	9: 57,242,216	V357A	probably benign	Het
Tspan18	A	G	2: 93,210,858	V133A	probably benign	Het
Unc5b	A	T	10: 60,777,543	W305R	probably damaging	Het
Vmn2r95	T	A	17: 18,440,267	L314I	possibly damaging	Het
Wdsub1	G	A	2: 59,876,717	A178V	probably damaging	Het
Zfp407	A	G	18: 84,559,629	S1120P	probably benign	Het
Zfp57	T	C	17: 37,009,674	F140S	probably damaging	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
R8010:Tet3	UTSW	6	83403246	missense	unknown
R8063:Tet3	UTSW	6	83402741	missense	probably damaging	1.00
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	83459021	missense	unknown
Z1176:Tet3	UTSW	6	83404350	missense	probably damaging	1.00
Z1177:Tet3	UTSW	6	83404294	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CTGGTAGGGTTGCCATACTTC -3'
(R):5'- AACGCCTTCTCTGCAGACATG -3'

Sequencing Primer
(F):5'- AGGGTTGCCATACTTCCGGAG -3'
(R):5'- GCTGGGACATCATAAAACTCTTC -3'

Posted On

2020-09-15