Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Tet3'

37674

Institutional Source

Beutler Lab

Gene Symbol

Tet3

Ensembl Gene

ENSMUSG00000034832

Gene Name

tet methylcytosine dioxygenase 3

Synonyms

D230004J03Rik, B430006D22Rik

MMRRC Submission

038512-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

R0295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83362373-83459084 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83369139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1304 (P1304S)

Ref Sequence

ENSEMBL: ENSMUSP00000087049 (fasta)

Gene Model

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

AlphaFold

Q8BG87

Predicted Effect

probably benign
Transcript: ENSMUST00000089622
AA Change: P1304S

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000087049
Gene: ENSMUSG00000034832
AA Change: P1304S

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: P1439S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139630
Gene: ENSMUSG00000034832
AA Change: P1439S

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

0.0604

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	T	2: 91,282,594	I173N	probably damaging	Het
2610028H24Rik	G	A	10: 76,454,808	S127N	probably damaging	Het
Abcc8	T	C	7: 46,118,054	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,548,005		probably null	Het
Adh4	A	G	3: 138,429,076	D337G	probably damaging	Het
Apob	T	A	12: 8,002,181	Y1207*	probably null	Het
Birc6	T	C	17: 74,613,362		probably benign	Het
Bms1	A	G	6: 118,389,337	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,356,211	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,356,870	P179H	probably damaging	Het
Ccdc18	A	T	5: 108,173,789	K586N	probably damaging	Het
Cep290	A	C	10: 100,537,821	E1321A	probably damaging	Het
Ctc1	A	G	11: 69,030,588	K682E	possibly damaging	Het
Cux1	A	C	5: 136,313,212	V442G	probably benign	Het
Dph2	A	T	4: 117,890,930	V150E	possibly damaging	Het
Etv6	A	G	6: 134,266,275	D331G	probably benign	Het
Fbxo42	A	G	4: 141,200,497	D696G	probably damaging	Het
Fbxo8	G	A	8: 56,590,074	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840	T73A	possibly damaging	Het
H2afj	C	G	6: 136,808,604	R89G	probably damaging	Het
Ifng	G	T	10: 118,441,249	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,709,477		probably null	Het
Knl1	A	C	2: 119,088,839	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,701,108	Y108*	probably null	Het
Lcp1	A	G	14: 75,199,420	I69V	probably null	Het
Lrp6	A	T	6: 134,457,693	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,565,849	E1009D	probably benign	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Med14	G	C	X: 12,685,748	R1223G	probably damaging	Het
Mesd	C	T	7: 83,897,865	Q179*	probably null	Het
Myh7	A	G	14: 54,984,821		probably benign	Het
Myo6	T	C	9: 80,283,579	I804T	probably damaging	Het
Neb	T	C	2: 52,284,285	I1521V	possibly damaging	Het
Nosip	T	A	7: 45,076,916	I249N	probably damaging	Het
Nostrin	A	C	2: 69,179,416	E296A	probably benign	Het
Olfr1280	T	A	2: 111,316,154	V225D	probably damaging	Het
Olfr136	A	T	17: 38,335,291	I45F	probably damaging	Het
Olfr491	T	G	7: 108,317,685	S264A	probably benign	Het
Olfr624	T	C	7: 103,670,311	H240R	probably damaging	Het
Oprk1	T	C	1: 5,598,850	L173S	possibly damaging	Het
Pdzd7	A	G	19: 45,037,072	V328A	probably benign	Het
Podxl2	A	T	6: 88,849,678	S215R	probably benign	Het
Prss36	T	G	7: 127,935,855	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,823,985		probably benign	Het
Rasa2	T	C	9: 96,545,810		probably null	Het
Rgs1	A	T	1: 144,245,486	I149N	probably damaging	Het
Rgs16	A	G	1: 153,743,737	E163G	probably damaging	Het
Rnf121	A	G	7: 102,035,346	F120S	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slfn8	A	T	11: 83,003,343	Y823*	probably null	Het
Spdl1	A	T	11: 34,813,343	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,356,203		probably benign	Het
Timm29	T	C	9: 21,593,076		probably null	Het
Tpcn1	T	A	5: 120,539,060	I687F	probably damaging	Het
Trim46	A	G	3: 89,245,113		probably benign	Het
Ttc23	T	A	7: 67,669,852		probably benign	Het
Ttll6	G	T	11: 96,154,714	V586L	probably benign	Het
Ttn	A	T	2: 76,758,611		probably benign	Het
Uba3	A	T	6: 97,191,583	H160Q	possibly damaging	Het
Usp32	A	G	11: 85,053,692	S316P	probably damaging	Het
Vcan	T	C	13: 89,712,191	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,817,472	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,307,616	S138P	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
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
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'- AGTGAACAGTCCCCACTGGCTTTC -3'
(R):5'- TGGCTTTCCATCAAGCAACCCTG -3'

Sequencing Primer
(F):5'- TCTGGGAAGTGTGAAGGAGTG -3'
(R):5'- GGAATATCTGCTACCCAAGGTC -3'

Posted On

2013-05-23