Mutagenetix > Incidental Mutations

Incidental Mutation 'R7459:Tet2'

578299

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133463679-133545139 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133480289 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1129 (R1129Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143029 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098603
AA Change: R1129Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: R1129Q

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

possibly damaging
Transcript: ENSMUST00000196398
AA Change: R1129Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: R1129Q

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: ENSMUST00000198974

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	T	G	8: 84,167,352	S383A	probably benign	Het
Adgre1	T	A	17: 57,449,933	V730E	probably damaging	Het
Agbl1	G	A	7: 76,420,066	D449N	not run	Het
Agr2	A	T	12: 35,997,453	E96V	probably benign	Het
Als2cr12	T	G	1: 58,691,752	E48D	possibly damaging	Het
Atp1a2	A	C	1: 172,287,295	S308A	probably benign	Het
Birc7	T	C	2: 180,929,357	S71P	possibly damaging	Het
Camk2g	T	C	14: 20,779,207	I73V	probably damaging	Het
Carf	C	A	1: 60,128,039	T177K	possibly damaging	Het
Ccdc191	C	T	16: 43,947,457	Q665*	probably null	Het
Cd79a	A	T	7: 24,899,142	T39S	possibly damaging	Het
Ces5a	C	A	8: 93,535,741		probably benign	Het
Dkk2	C	A	3: 132,175,029	T145N	probably benign	Het
Dot1l	C	T	10: 80,773,173	A188V	probably damaging	Het
Egfr	T	A	11: 16,896,967	V788D	probably damaging	Het
Esyt3	T	A	9: 99,358,064	H109L	probably benign	Het
Fam129c	T	A	8: 71,605,027	C516S	possibly damaging	Het
Fam234b	C	T	6: 135,211,901	T168I	probably benign	Het
Fan1	G	T	7: 64,348,966	S936Y	probably damaging	Het
Fat2	T	C	11: 55,303,919	E1098G	probably damaging	Het
Fcgbp	A	G	7: 28,107,285	D2226G	possibly damaging	Het
Flvcr2	T	C	12: 85,747,057	V69A	probably benign	Het
Foxb2	T	A	19: 16,873,072	H190L	unknown	Het
Fut4	C	T	9: 14,751,306	V231M	possibly damaging	Het
Gtf2a1	G	A	12: 91,575,652	A91V	probably benign	Het
Hip1	A	G	5: 135,414,297	S961P	probably damaging	Het
Hsf2bp	C	T	17: 31,946,734	V296M	probably benign	Het
Hspbp1	G	T	7: 4,684,578	H11Q	probably benign	Het
Ighv1-84	C	T	12: 115,980,812	E81K	probably benign	Het
Isg20l2	T	C	3: 87,932,178	L232P	possibly damaging	Het
Isx	A	G	8: 74,892,764	Y181C	probably benign	Het
Kif9	A	G	9: 110,519,041	Y644C	probably damaging	Het
Lin7c	T	A	2: 109,897,337	V177D	probably benign	Het
Lpin3	T	C	2: 160,897,300	S343P	probably benign	Het
Mat1a	A	T	14: 41,120,184	Q246L	probably benign	Het
Mlkl	T	C	8: 111,333,530	I75V	probably benign	Het
Ndufa7	T	A	17: 33,838,166	S107T	probably damaging	Het
Nip7	T	A	8: 107,057,336	C69*	probably null	Het
Nipa2	A	T	7: 55,933,341	W219R	probably damaging	Het
Oas2	A	C	5: 120,749,710	S22A	unknown	Het
Obscn	A	G	11: 59,131,657	V754A	probably benign	Het
Olfr1249	G	A	2: 89,630,668	P77S	probably damaging	Het
Osbpl1a	C	T	18: 12,933,585	C39Y	probably damaging	Het
Pcdhb16	A	T	18: 37,479,553	Y522F	probably benign	Het
Pced1a	T	G	2: 130,419,824	D303A	possibly damaging	Het
Peli1	T	A	11: 21,148,190	Y308*	probably null	Het
Pfas	T	A	11: 68,988,655	R243W		Het
Pik3r5	C	A	11: 68,492,590	Q412K	probably benign	Het
Pkd1l1	A	T	11: 8,902,428	I1135N		Het
Prune1	C	A	3: 95,281,710		probably benign	Het
Ptpn4	T	A	1: 119,659,834	K926N	probably damaging	Het
Ptpre	A	G	7: 135,667,600	N277S	probably benign	Het
Raver2	A	T	4: 101,107,213	D255V	possibly damaging	Het
Rgs20	A	G	1: 4,910,634	V187A	probably benign	Het
Rgs3	A	G	4: 62,625,154	E242G	probably benign	Het
Rims2	T	G	15: 39,517,839	S1055R	probably benign	Het
Rnf146	T	C	10: 29,347,644	D82G	probably benign	Het
Rpgrip1	A	G	14: 52,140,559	S455G	probably benign	Het
Samm50	T	C	15: 84,195,856		probably null	Het
Sh3bgr	A	G	16: 96,205,922	K31E	probably benign	Het
Slc39a8	T	C	3: 135,886,911	I449T	probably damaging	Het
Slc5a3	A	T	16: 92,079,017	Y654F	probably benign	Het
Spata1	T	A	3: 146,476,222	L264F	possibly damaging	Het
Spats2l	A	T	1: 57,799,353		probably benign	Het
Stard13	A	C	5: 151,047,599	S848A	probably damaging	Het
Stat2	A	G	10: 128,276,565	S25G	possibly damaging	Het
Tmem232	T	C	17: 65,256,389	T670A	probably benign	Het
Tmem266	T	C	9: 55,396,599	L3P	unknown	Het
Tns3	A	T	11: 8,492,793	D523E	probably benign	Het
Trim3	A	T	7: 105,617,808	S455T	probably damaging	Het
Trim31	T	C	17: 36,909,662	V490A	probably damaging	Het
Trmt11	A	C	10: 30,590,043	N168K	probably benign	Het
Trpc4	G	A	3: 54,291,232	V526M	probably damaging	Het
Ttn	C	A	2: 76,919,138	D3856Y	possibly damaging	Het
Tulp2	G	A	7: 45,519,803	D377N	probably damaging	Het
Ubl7	A	G	9: 57,914,592	T75A	probably damaging	Het
Ugt2b34	T	G	5: 86,901,275	D297A	possibly damaging	Het
Usp34	A	T	11: 23,364,458	H800L	possibly damaging	Het
Utp3	C	A	5: 88,555,553	L314M	probably damaging	Het
Zer1	A	G	2: 30,113,325	Y27H	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
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
R7653:Tet2	UTSW	3	133486385	missense	probably benign	0.18
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
R8055:Tet2	UTSW	3	133467992	missense	possibly damaging	0.93
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'- ATTCAAGCCCCTCTGGAGAAC -3'
(R):5'- ACTCTATAGCTGGGCAATAAAAGAG -3'

Sequencing Primer
(F):5'- CCCCTCTGGAGAACGGGAAAG -3'
(R):5'- GGAATTGCAGTTGGTAATTTTGATCC -3'

Posted On

2019-10-07