Mutagenetix > Incidental Mutation

Incidental Mutation 'R7251:Tet3'

563923

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: 0.567) question?

Stock #

R7251 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83362373-83459084 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83404056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 377 (S377P)

Ref Sequence

ENSEMBL: ENSMUSP00000139630 (fasta)

Gene Model

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

AlphaFold

Q8BG87

Predicted Effect

probably benign
Transcript: ENSMUST00000089622
AA Change: S242P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: S242P

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: S377P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: S377P

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	G	T	X: 78,370,705	M345I	probably benign	Het
Adamts19	A	T	18: 58,837,902	D186V	probably damaging	Het
Agrn	T	C	4: 156,174,606	D884G	probably damaging	Het
Akr1c6	T	A	13: 4,447,020	C154S	probably damaging	Het
Apob	T	C	12: 8,007,037	Y1840H	probably damaging	Het
Arfgef1	T	C	1: 10,198,975	E399G	possibly damaging	Het
Arg2	G	A	12: 79,150,798	G197S	probably damaging	Het
Arhgap32	T	C	9: 32,208,185	V308A	probably damaging	Het
Atcay	A	T	10: 81,210,532	C319*	probably null	Het
Bend4	C	G	5: 67,427,533	R16P	unknown	Het
Braf	A	G	6: 39,677,570		probably null	Het
Camsap1	T	C	2: 25,938,886	E942G	probably damaging	Het
Cdpf1	C	T	15: 85,809,293	G11D	probably damaging	Het
Cgn	T	C	3: 94,776,199	E382G	possibly damaging	Het
Cndp1	T	A	18: 84,622,197	E294D	probably benign	Het
Cnn1	T	A	9: 22,108,217	Y294N	unknown	Het
Cyp2ab1	A	G	16: 20,315,896	F104S	possibly damaging	Het
Cyp2t4	G	A	7: 27,157,719	V336M	possibly damaging	Het
D430041D05Rik	T	A	2: 104,221,166	D782V	probably damaging	Het
Ddx39b	A	G	17: 35,253,488	*429W	probably null	Het
Dgkb	T	C	12: 37,981,986	S16P	possibly damaging	Het
Dll4	T	C	2: 119,332,292	C465R	probably damaging	Het
Dsp	A	G	13: 38,193,548	I1770V	probably benign	Het
Fbxw11	A	G	11: 32,731,370	N250S	probably benign	Het
Fsip2	G	A	2: 82,979,081	V1915M	possibly damaging	Het
Greb1l	G	A	18: 10,515,319	V704M	probably damaging	Het
Hgf	T	A	5: 16,593,944	N323K	possibly damaging	Het
Hhatl	A	T	9: 121,785,050		probably null	Het
Hip1r	T	C	5: 123,994,750	S204P	probably damaging	Het
Igsf10	T	A	3: 59,319,454	N2266I	probably damaging	Het
Krtap15	A	G	16: 88,829,094		probably null	Het
Lrp1	T	C	10: 127,572,554	D1751G	probably damaging	Het
Madd	A	T	2: 91,162,176	D1050E	probably benign	Het
Man1c1	C	T	4: 134,580,836	G323R	probably damaging	Het
Mgll	A	G	6: 88,823,375	E252G	probably benign	Het
Muc2	A	G	7: 141,692,722	N145S	possibly damaging	Het
Ncoa2	C	T	1: 13,148,375	S1410N	probably benign	Het
Nek10	A	G	14: 14,853,965	T384A	probably benign	Het
Nexn	T	C	3: 152,247,195	E310G	probably damaging	Het
Nol10	T	C	12: 17,402,107	L354P	probably damaging	Het
Npy4r	T	C	14: 34,146,915	R139G	probably damaging	Het
Nup160	A	G	2: 90,700,174	E463G	probably damaging	Het
Olfr1062	G	A	2: 86,423,596	L27F	probably benign	Het
Olfr301	T	C	7: 86,413,001	V213A	probably benign	Het
Olfr622	C	T	7: 103,639,702	G146D	probably damaging	Het
Pdzd8	A	T	19: 59,300,645	N774K	possibly damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Pot1a	T	C	6: 25,752,498		probably null	Het
Ppip5k1	T	A	2: 121,347,571	E283D	probably benign	Het
Ptpn2	A	C	18: 67,675,792	I318R	possibly damaging	Het
Raph1	A	G	1: 60,489,868	F745L	unknown	Het
Rgs19	C	T	2: 181,689,748	V88I	probably benign	Het
Ripk4	A	G	16: 97,743,249	S733P	probably benign	Het
Rprd1b	T	A	2: 158,028,979	W29R	probably damaging	Het
Rtkn	A	G	6: 83,135,962	N5S	probably damaging	Het
Sh3bp5l	A	T	11: 58,341,302	Q131L	probably damaging	Het
Slain2	T	A	5: 72,974,548	F461I	possibly damaging	Het
Stk24	A	T	14: 121,308,022	L108Q	probably damaging	Het
Syne3	TC	T	12: 104,961,571		probably null	Het
Tapbpl	A	T	6: 125,226,595	V374E	probably damaging	Het
Tax1bp1	A	G	6: 52,721,356	I18V	possibly damaging	Het
Tecta	T	A	9: 42,387,752	I233F	probably damaging	Het
Uty	A	G	Y: 1,154,262	S721P	probably benign	Het
Wnk4	C	A	11: 101,265,153	T412K	possibly damaging	Het
Zdhhc11	G	T	13: 73,992,097	V336L	probably benign	Het
Zfp605	T	A	5: 110,127,960	S315T	probably damaging	Het
Zfp746	A	G	6: 48,064,877	L305P	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
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
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	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'- GAAAACTCAGGTCTTGGGGTTG -3'
(R):5'- AAGTCTATGGCCATGGAGGG -3'

Sequencing Primer
(F):5'- TGCTGGAGGGAAGGCTG -3'
(R):5'- GCTCTGCCTCCCAGTGAG -3'

Posted On

2019-06-26