Mutagenetix > Incidental Mutation

Incidental Mutation 'R7653:Tet2'

580460

Institutional Source

Beutler Lab

Gene Symbol

Tet2

Ensembl Gene

ENSMUSG00000040943

Gene Name

tet methylcytosine dioxygenase 2

Synonyms

E130014J05Rik, Ayu17-449

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001040400.2; MGI:2443298

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133463679-133545139 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 133486385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 763 (Q763K)

Ref Sequence

ENSEMBL: ENSMUSP00000143029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098603] [ENSMUST00000196398] [ENSMUST00000197118]

AlphaFold

Q4JK59

Predicted Effect

probably benign
Transcript: ENSMUST00000098603
AA Change: Q763K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: Q763K

Domain	Start	End	E-Value	Type
low complexity region	690	701	N/A	INTRINSIC
low complexity region	855	862	N/A	INTRINSIC
low complexity region	884	895	N/A	INTRINSIC
low complexity region	899	921	N/A	INTRINSIC
Tet_JBP	1203	1819	7e-301	SMART
low complexity region	1832	1844	N/A	INTRINSIC
low complexity region	1885	1897	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196398
AA Change: Q763K

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: Q763K

Domain	Start	End	E-Value	Type
low complexity region	690	701	N/A	INTRINSIC
low complexity region	855	862	N/A	INTRINSIC
low complexity region	884	895	N/A	INTRINSIC
low complexity region	899	921	N/A	INTRINSIC
Tet_JBP	1211	1827	3.4e-305	SMART
low complexity region	1840	1852	N/A	INTRINSIC
low complexity region	1893	1905	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197118

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

Strain: 5285413; 4345275; 3813933; 5301343
Lethality: D1-D2
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele die shortly after birth and exhibit a loss of acidic granules in the proximal convoluted tubules of the kidneys. Mice homozygous for a conditional allele activated in hematopoeitic compartment exhibit self-renewal and myeloid transforamtion. [provided by MGI curators]

Allele List at MGI

All alleles(1246) : Targeted(6) Gene trapped(1240)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	T	6: 92,828,069	Q70L	unknown	Het
Adamts12	T	A	15: 11,257,029	N489K	probably benign	Het
Alms1	A	G	6: 85,620,595	D801G	possibly damaging	Het
Apex1	T	G	14: 50,926,538	N173K	probably damaging	Het
Arhgap32	A	T	9: 32,257,145	N808I	probably benign	Het
Arhgef28	T	C	13: 97,969,313	Y706C	probably benign	Het
Atg2b	A	T	12: 105,636,472	F1604Y	possibly damaging	Het
Atm	A	T	9: 53,490,302	Y1422*	probably null	Het
Bace2	T	A	16: 97,436,652	V38E		Het
BC053393	A	C	11: 46,584,373	S132R	probably benign	Het
Birc6	C	A	17: 74,647,734	L3442I	possibly damaging	Het
C6	T	A	15: 4,814,762	S889T		Het
Calcrl	A	T	2: 84,345,185	L275*	probably null	Het
Casp6	T	C	3: 129,912,223	Y180H	probably benign	Het
Cd5	T	C	19: 10,726,546	M51V	probably benign	Het
Cdhr1	G	T	14: 37,082,201	P500Q	probably benign	Het
Celsr3	G	A	9: 108,835,070	W1732*	probably null	Het
Ces2g	T	C	8: 104,962,653	V87A	probably damaging	Het
Chil6	T	C	3: 106,394,325	N153S	possibly damaging	Het
Chrna5	A	T	9: 55,002,434	D113V	probably benign	Het
Cox20	A	G	1: 178,322,599	T113A	probably benign	Het
Cryl1	T	C	14: 57,303,691	I179V	probably benign	Het
Dennd3	A	G	15: 73,562,426	T982A	probably damaging	Het
Drosha	G	A	15: 12,859,436	V577I	probably benign	Het
Dync2h1	A	G	9: 7,117,570	S2240P	probably benign	Het
Fam166b	T	G	4: 43,427,273		probably null	Het
Fbxl5	C	T	5: 43,758,774	S432N	probably benign	Het
Fez1	T	A	9: 36,860,850	S150R	probably benign	Het
Gabrb2	T	G	11: 42,487,212	M85R	probably damaging	Het
Gm2035	T	A	12: 87,919,478	D127V	unknown	Het
Lhx4	A	G	1: 155,704,871	V203A	probably damaging	Het
Med23	G	A	10: 24,904,384	D977N	probably damaging	Het
Mplkip	T	C	13: 17,695,782	F100L	probably damaging	Het
Ncoa7	C	T	10: 30,694,243	G240E	probably damaging	Het
Nedd4	A	G	9: 72,743,628	E827G	probably damaging	Het
Nfatc2	A	G	2: 168,571,145	F207L	probably benign	Het
Nr2f1	A	T	13: 78,195,597	S183T	probably benign	Het
Ocel1	A	G	8: 71,371,916	E81G	probably benign	Het
Olfr1513	C	A	14: 52,349,432	G205*	probably null	Het
Olfr432	T	C	1: 174,050,922	V183A	probably benign	Het
Olfr733	C	T	14: 50,299,147	G54E	possibly damaging	Het
Pcdh8	G	A	14: 79,767,646	P980S	probably benign	Het
Pex26	A	T	6: 121,193,551	Q285L	possibly damaging	Het
Plce1	A	T	19: 38,749,319	N1603I	probably benign	Het
Poli	A	T	18: 70,509,627	C501S	probably benign	Het
Ppp4r4	C	T	12: 103,584,145	T276I	probably damaging	Het
Rbpj	T	A	5: 53,590,351	M1K	probably null	Het
Recql4	T	A	15: 76,703,782	M1204L	probably benign	Het
Ribc2	T	C	15: 85,141,675	I284T	probably benign	Het
Rreb1	C	A	13: 37,930,386	Q574K	probably benign	Het
Scn9a	A	T	2: 66,527,080	L959Q	probably damaging	Het
Shank1	C	A	7: 44,319,669	H329Q	unknown	Het
Soat2	A	T	15: 102,162,578	D469V	probably damaging	Het
Spag7	T	A	11: 70,664,865	H82L	probably damaging	Het
Sptb	T	C	12: 76,628,497	I248V	probably benign	Het
Tacr3	A	G	3: 134,861,082	I239V	probably benign	Het
Tbc1d1	T	C	5: 64,256,790	F165L	probably benign	Het
Tchhl1	A	G	3: 93,471,144	E385G	probably benign	Het
Tecta	C	T	9: 42,337,236	D1957N	probably damaging	Het
Tenm2	T	C	11: 36,047,347	I1501V	probably benign	Het
Tmem8	T	A	17: 26,120,449	M579K	probably damaging	Het
Tox3	G	A	8: 90,248,989	T338I	probably damaging	Het
Usp30	G	A	5: 114,121,669	D479N	probably damaging	Het
Vmn1r27	T	C	6: 58,215,800	D73G	possibly damaging	Het
Vmn1r27	A	T	6: 58,215,894	S42T	probably benign	Het
Vmn2r120	A	T	17: 57,509,258	V699D	possibly damaging	Het
Vwa2	A	T	19: 56,909,335	T691S	probably benign	Het
Wdr31	T	A	4: 62,463,429	Q55L	probably benign	Het
Xdh	A	G	17: 73,897,045	F1107L	probably benign	Het
Zfp184	A	G	13: 21,959,717	H531R	probably damaging	Het
Zfp366	T	C	13: 99,229,201	L290P	probably damaging	Het

Other mutations in Tet2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Tet2	APN	3	133488085	missense	possibly damaging	0.96
IGL00401:Tet2	APN	3	133466882	missense	possibly damaging	0.72
IGL01528:Tet2	APN	3	133480298	missense	possibly damaging	0.86
IGL02053:Tet2	APN	3	133488523	missense	possibly damaging	0.96
IGL02142:Tet2	APN	3	133480139	missense	possibly damaging	0.96
IGL02512:Tet2	APN	3	133469308	missense	probably benign	0.05
IGL03148:Tet2	APN	3	133481363	missense	probably benign	0.18
IGL03182:Tet2	APN	3	133471398	nonsense	probably null
IGL03371:Tet2	APN	3	133467551	missense	possibly damaging	0.71
P0022:Tet2	UTSW	3	133486893	missense	probably benign	0.01
P0023:Tet2	UTSW	3	133486893	missense	probably benign	0.01
P0031:Tet2	UTSW	3	133480202	missense	possibly damaging	0.53
R0012:Tet2	UTSW	3	133476558	missense	probably damaging	0.98
R0012:Tet2	UTSW	3	133476558	missense	probably damaging	0.98
R0463:Tet2	UTSW	3	133486666	missense	possibly damaging	0.86
R0522:Tet2	UTSW	3	133466804	missense	probably damaging	0.98
R0593:Tet2	UTSW	3	133488109	missense	probably benign	0.00
R0600:Tet2	UTSW	3	133467602	missense	probably benign	0.00
R0600:Tet2	UTSW	3	133467725	missense	probably benign	0.01
R0698:Tet2	UTSW	3	133467384	missense	probably benign	0.32
R0723:Tet2	UTSW	3	133467284	missense	probably benign
R0726:Tet2	UTSW	3	133468184	missense	probably benign
R0747:Tet2	UTSW	3	133467470	missense	possibly damaging	0.86
R1006:Tet2	UTSW	3	133476601	missense	possibly damaging	0.53
R1382:Tet2	UTSW	3	133476615	missense	probably damaging	1.00
R1455:Tet2	UTSW	3	133473645	missense	possibly damaging	0.51
R1550:Tet2	UTSW	3	133469519	missense	probably benign	0.32
R1647:Tet2	UTSW	3	133485880	missense	probably benign
R1662:Tet2	UTSW	3	133466852	missense	possibly damaging	0.96
R1727:Tet2	UTSW	3	133487290	missense	probably damaging	0.98
R1738:Tet2	UTSW	3	133481387	missense	probably benign	0.08
R1749:Tet2	UTSW	3	133480131	critical splice donor site	probably null
R1869:Tet2	UTSW	3	133481441	splice site	probably null
R1887:Tet2	UTSW	3	133487333	missense	possibly damaging	0.68
R1937:Tet2	UTSW	3	133488638	missense	possibly damaging	0.68
R1939:Tet2	UTSW	3	133488638	missense	possibly damaging	0.68
R1940:Tet2	UTSW	3	133488638	missense	possibly damaging	0.68
R1997:Tet2	UTSW	3	133486589	nonsense	probably null
R2082:Tet2	UTSW	3	133485727	missense	possibly damaging	0.96
R2084:Tet2	UTSW	3	133487767	missense	possibly damaging	0.68
R2215:Tet2	UTSW	3	133486601	missense	probably benign	0.03
R2321:Tet2	UTSW	3	133486339	missense	possibly damaging	0.53
R2873:Tet2	UTSW	3	133486954	missense	probably damaging	1.00
R3439:Tet2	UTSW	3	133466831	missense	possibly damaging	0.93
R3783:Tet2	UTSW	3	133479363	missense	possibly damaging	0.53
R3894:Tet2	UTSW	3	133469477	missense	possibly damaging	0.86
R3916:Tet2	UTSW	3	133486055	missense	possibly damaging	0.53
R3966:Tet2	UTSW	3	133487657	missense	possibly damaging	0.73
R4457:Tet2	UTSW	3	133485563	missense	possibly damaging	0.85
R4633:Tet2	UTSW	3	133485549	missense	probably benign	0.33
R4646:Tet2	UTSW	3	133488082	missense	probably benign	0.02
R4647:Tet2	UTSW	3	133488082	missense	probably benign	0.02
R4648:Tet2	UTSW	3	133488082	missense	probably benign	0.02
R4691:Tet2	UTSW	3	133486083	missense	possibly damaging	0.73
R4805:Tet2	UTSW	3	133467315	missense	probably benign	0.32
R4829:Tet2	UTSW	3	133476620	missense	possibly damaging	0.91
R4901:Tet2	UTSW	3	133467044	missense	possibly damaging	0.86
R4975:Tet2	UTSW	3	133486759	unclassified	probably benign
R5004:Tet2	UTSW	3	133487379	missense	possibly damaging	0.84
R5075:Tet2	UTSW	3	133486906	missense	probably benign
R5137:Tet2	UTSW	3	133476565	missense	probably benign	0.32
R5324:Tet2	UTSW	3	133485913	missense	probably benign	0.00
R5590:Tet2	UTSW	3	133476480	splice site	probably null
R5854:Tet2	UTSW	3	133487885	missense	probably damaging	0.98
R5856:Tet2	UTSW	3	133486640	missense	probably benign	0.01
R5865:Tet2	UTSW	3	133487099	missense	probably benign	0.08
R5879:Tet2	UTSW	3	133487960	missense	possibly damaging	0.96
R5935:Tet2	UTSW	3	133488535	missense	possibly damaging	0.68
R6012:Tet2	UTSW	3	133466781	missense	possibly damaging	0.86
R6075:Tet2	UTSW	3	133471435	missense	possibly damaging	0.71
R6181:Tet2	UTSW	3	133487759	nonsense	probably null
R6188:Tet2	UTSW	3	133480326	missense	probably benign	0.18
R6339:Tet2	UTSW	3	133486417	missense	possibly damaging	0.53
R6612:Tet2	UTSW	3	133487335	missense	possibly damaging	0.53
R6923:Tet2	UTSW	3	133479341	critical splice donor site	probably null
R6934:Tet2	UTSW	3	133483237	critical splice donor site	probably null
R7076:Tet2	UTSW	3	133467023	missense	possibly damaging	0.71
R7155:Tet2	UTSW	3	133469591	missense	possibly damaging	0.71
R7184:Tet2	UTSW	3	133473630	missense	probably damaging	0.98
R7200:Tet2	UTSW	3	133487192	missense	probably benign	0.18
R7459:Tet2	UTSW	3	133480289	missense	possibly damaging	0.53
R7504:Tet2	UTSW	3	133487339	missense	probably benign	0.33
R7524:Tet2	UTSW	3	133480229	missense	probably benign	0.33
R7613:Tet2	UTSW	3	133466748	missense	possibly damaging	0.83
R7691:Tet2	UTSW	3	133486849	missense	probably damaging	0.98
R7770:Tet2	UTSW	3	133480295	missense	possibly damaging	0.53
R7807:Tet2	UTSW	3	133486541	missense	possibly damaging	0.53
R7813:Tet2	UTSW	3	133473643	missense	probably benign	0.06
R7978:Tet2	UTSW	3	133487665	missense	possibly damaging	0.96
R8055:Tet2	UTSW	3	133467992	missense	possibly damaging	0.93
R8164:Tet2	UTSW	3	133467134	missense	possibly damaging	0.85
R8236:Tet2	UTSW	3	133487786	missense	probably benign	0.00
R8755:Tet2	UTSW	3	133488278	missense	probably damaging	0.99
R8962:Tet2	UTSW	3	133488043	missense	probably benign	0.22
R9009:Tet2	UTSW	3	133487599	missense	possibly damaging	0.86
R9014:Tet2	UTSW	3	133467188	missense	probably damaging	0.99
R9128:Tet2	UTSW	3	133469613	missense	possibly damaging	0.85
R9166:Tet2	UTSW	3	133468172	missense	probably damaging	1.00
R9190:Tet2	UTSW	3	133481386	missense	possibly damaging	0.73
R9344:Tet2	UTSW	3	133469354	missense	possibly damaging	0.86
R9360:Tet2	UTSW	3	133487142	missense	possibly damaging	0.72
R9471:Tet2	UTSW	3	133485919	missense	probably damaging	1.00
R9488:Tet2	UTSW	3	133487342	missense	probably benign	0.18
R9534:Tet2	UTSW	3	133467928	nonsense	probably null
R9557:Tet2	UTSW	3	133485805	missense	probably benign
R9621:Tet2	UTSW	3	133488006	nonsense	probably null
R9644:Tet2	UTSW	3	133487303	nonsense	probably null
R9719:Tet2	UTSW	3	133486042	missense	possibly damaging	0.86
X0021:Tet2	UTSW	3	133486295	missense	possibly damaging	0.85
X0066:Tet2	UTSW	3	133488373	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAGCTTGCTGAGGCTTCTGC -3'
(R):5'- GAGCAAATGCCTCAGACTTTC -3'

Sequencing Primer
(F):5'- TTGTTCCTGAAAGCACCGG -3'
(R):5'- CTCTCATCTCCAAGGTAGCAATG -3'

Posted On

2019-10-07