Mutagenetix > Incidental Mutation

Incidental Mutation 'R1550:Tet2'

169831

Institutional Source

Beutler Lab

Gene Symbol

Tet2

Ensembl Gene

ENSMUSG00000040943

Gene Name

tet methylcytosine dioxygenase 2

Synonyms

E130014J05Rik, Ayu17-449

MMRRC Submission

039589-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1550 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133169438-133250882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 133175280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1356 (Q1356K)

Ref Sequence

ENSEMBL: ENSMUSP00000143029 (fasta)

Gene Model

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

AlphaFold

Q4JK59

Predicted Effect

probably benign
Transcript: ENSMUST00000098603
AA Change: Q1348K

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: Q1348K

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: Q1356K

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: Q1356K

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

noncoding transcript
Transcript: ENSMUST00000197211

Predicted Effect

probably benign
Transcript: ENSMUST00000198974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199381

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.2%

Validation Efficiency

MGI Phenotype

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,654,668 (GRCm39)	V551A	probably benign	Het
Acss1	A	T	2: 150,484,715 (GRCm39)	L176Q	probably damaging	Het
Aldh7a1	A	G	18: 56,683,454 (GRCm39)	I117T	possibly damaging	Het
Arf5	C	T	6: 28,426,152 (GRCm39)	R180C	probably damaging	Het
Arhgap21	A	T	2: 20,886,576 (GRCm39)	Y39*	probably null	Het
Arrdc1	A	G	2: 24,816,351 (GRCm39)	L206P	probably damaging	Het
Cby3	A	T	11: 50,250,313 (GRCm39)	Y173F	probably damaging	Het
Cdh18	T	A	15: 23,436,634 (GRCm39)	C497S	probably damaging	Het
Cyp11b2	T	C	15: 74,725,442 (GRCm39)	I226V	probably benign	Het
Ddit4l	T	A	3: 137,330,036 (GRCm39)		probably null	Het
Ddx11	C	T	17: 66,445,215 (GRCm39)	T405I	probably benign	Het
Dhx40	A	T	11: 86,667,565 (GRCm39)		probably null	Het
Dlgap2	A	G	8: 14,872,499 (GRCm39)	D659G	probably damaging	Het
Eef2	A	G	10: 81,016,681 (GRCm39)	E586G	probably benign	Het
Fam161a	A	G	11: 22,970,470 (GRCm39)	Q216R	possibly damaging	Het
Fbxw24	G	T	9: 109,436,112 (GRCm39)	R307S	probably benign	Het
Gbp2b	G	T	3: 142,312,591 (GRCm39)	A325S	probably damaging	Het
Gli1	A	T	10: 127,174,385 (GRCm39)	F2Y	probably damaging	Het
Gnl2	T	C	4: 124,938,027 (GRCm39)	V269A	probably damaging	Het
Grin1	A	G	2: 25,195,143 (GRCm39)	V292A	probably benign	Het
Heg1	T	A	16: 33,555,923 (GRCm39)	V1001E	probably damaging	Het
Herc2	T	A	7: 55,785,406 (GRCm39)	I1552N	probably damaging	Het
Htr1a	A	G	13: 105,581,788 (GRCm39)	T343A	probably benign	Het
Itk	G	T	11: 46,280,153 (GRCm39)	R29S	probably damaging	Het
Ivns1abp	G	T	1: 151,237,242 (GRCm39)	G469C	probably damaging	Het
Jph3	A	T	8: 122,511,598 (GRCm39)	N529Y	possibly damaging	Het
Kdm2b	A	G	5: 123,019,120 (GRCm39)	L829P	probably damaging	Het
Kprp	T	A	3: 92,732,033 (GRCm39)	Y339F	probably damaging	Het
Lrp2	A	G	2: 69,333,005 (GRCm39)	V1504A	possibly damaging	Het
Lypd6b	A	G	2: 49,833,615 (GRCm39)	D85G	probably damaging	Het
Mansc4	T	C	6: 146,977,136 (GRCm39)	Y160C	probably damaging	Het
Mgll	C	A	6: 88,790,871 (GRCm39)	H164N	probably benign	Het
Mtmr4	A	T	11: 87,504,342 (GRCm39)	D1097V	probably damaging	Het
Nfasc	T	C	1: 132,536,241 (GRCm39)	K571E	probably damaging	Het
Nfat5	A	T	8: 108,097,205 (GRCm39)	N1527Y	probably damaging	Het
Nlgn1	A	G	3: 25,966,808 (GRCm39)	L215P	probably damaging	Het
Or6b9	T	A	7: 106,555,235 (GRCm39)	I303L	probably benign	Het
Pde4dip	T	C	3: 97,627,020 (GRCm39)	S1173G	probably damaging	Het
Prrt3	A	T	6: 113,472,468 (GRCm39)	V568E	probably damaging	Het
Ptpra	G	A	2: 130,383,313 (GRCm39)	R503Q	possibly damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rnf7l	A	G	10: 63,257,427 (GRCm39)	L31P	probably damaging	Het
Sema5a	G	A	15: 32,618,995 (GRCm39)	A508T	probably benign	Het
Serpinb11	T	C	1: 107,307,418 (GRCm39)	I283T	possibly damaging	Het
Setbp1	A	T	18: 78,901,807 (GRCm39)	L620Q	probably damaging	Het
Sipa1l3	A	T	7: 29,082,628 (GRCm39)	C756S	probably benign	Het
Sirpa	A	T	2: 129,471,961 (GRCm39)	I463F	probably damaging	Het
Slc13a2	G	T	11: 78,293,990 (GRCm39)	N257K	probably damaging	Het
Slc4a5	C	A	6: 83,248,039 (GRCm39)	T530N	probably damaging	Het
Stab2	A	T	10: 86,714,790 (GRCm39)	F125L	probably benign	Het
Tet3	A	T	6: 83,363,010 (GRCm39)	S856T	probably damaging	Het
Tg	C	T	15: 66,565,279 (GRCm39)	T1207I	possibly damaging	Het
Tkt	A	G	14: 30,287,525 (GRCm39)	Y173C	probably damaging	Het
Tlr6	T	A	5: 65,110,754 (GRCm39)	I718F	probably damaging	Het
Tnfrsf11b	A	G	15: 54,117,454 (GRCm39)	V267A	possibly damaging	Het
Ubqln3	T	A	7: 103,790,753 (GRCm39)	N446Y	probably damaging	Het
Vmn2r118	C	T	17: 55,915,083 (GRCm39)	C521Y	probably damaging	Het
Vps16	A	G	2: 130,282,260 (GRCm39)	D394G	probably benign	Het
Zfp236	A	T	18: 82,692,549 (GRCm39)	M142K	possibly damaging	Het
Zfp780b	T	C	7: 27,664,282 (GRCm39)	D91G	probably benign	Het
Zfp97	T	A	17: 17,365,468 (GRCm39)	Y322*	probably null	Het

Other mutations in Tet2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Tet2	APN	3	133,193,846 (GRCm39)	missense	possibly damaging	0.96
IGL00401:Tet2	APN	3	133,172,643 (GRCm39)	missense	possibly damaging	0.72
IGL01528:Tet2	APN	3	133,186,059 (GRCm39)	missense	possibly damaging	0.86
IGL02053:Tet2	APN	3	133,194,284 (GRCm39)	missense	possibly damaging	0.96
IGL02142:Tet2	APN	3	133,185,900 (GRCm39)	missense	possibly damaging	0.96
IGL02512:Tet2	APN	3	133,175,069 (GRCm39)	missense	probably benign	0.05
IGL03148:Tet2	APN	3	133,187,124 (GRCm39)	missense	probably benign	0.18
IGL03182:Tet2	APN	3	133,177,159 (GRCm39)	nonsense	probably null
IGL03371:Tet2	APN	3	133,173,312 (GRCm39)	missense	possibly damaging	0.71
P0022:Tet2	UTSW	3	133,192,654 (GRCm39)	missense	probably benign	0.01
P0023:Tet2	UTSW	3	133,192,654 (GRCm39)	missense	probably benign	0.01
P0031:Tet2	UTSW	3	133,185,963 (GRCm39)	missense	possibly damaging	0.53
R0012:Tet2	UTSW	3	133,182,319 (GRCm39)	missense	probably damaging	0.98
R0012:Tet2	UTSW	3	133,182,319 (GRCm39)	missense	probably damaging	0.98
R0463:Tet2	UTSW	3	133,192,427 (GRCm39)	missense	possibly damaging	0.86
R0522:Tet2	UTSW	3	133,172,565 (GRCm39)	missense	probably damaging	0.98
R0593:Tet2	UTSW	3	133,193,870 (GRCm39)	missense	probably benign	0.00
R0600:Tet2	UTSW	3	133,173,486 (GRCm39)	missense	probably benign	0.01
R0600:Tet2	UTSW	3	133,173,363 (GRCm39)	missense	probably benign	0.00
R0698:Tet2	UTSW	3	133,173,145 (GRCm39)	missense	probably benign	0.32
R0723:Tet2	UTSW	3	133,173,045 (GRCm39)	missense	probably benign
R0726:Tet2	UTSW	3	133,173,945 (GRCm39)	missense	probably benign
R0747:Tet2	UTSW	3	133,173,231 (GRCm39)	missense	possibly damaging	0.86
R1006:Tet2	UTSW	3	133,182,362 (GRCm39)	missense	possibly damaging	0.53
R1382:Tet2	UTSW	3	133,182,376 (GRCm39)	missense	probably damaging	1.00
R1455:Tet2	UTSW	3	133,179,406 (GRCm39)	missense	possibly damaging	0.51
R1647:Tet2	UTSW	3	133,191,641 (GRCm39)	missense	probably benign
R1662:Tet2	UTSW	3	133,172,613 (GRCm39)	missense	possibly damaging	0.96
R1727:Tet2	UTSW	3	133,193,051 (GRCm39)	missense	probably damaging	0.98
R1738:Tet2	UTSW	3	133,187,148 (GRCm39)	missense	probably benign	0.08
R1749:Tet2	UTSW	3	133,185,892 (GRCm39)	critical splice donor site	probably null
R1869:Tet2	UTSW	3	133,187,202 (GRCm39)	splice site	probably null
R1887:Tet2	UTSW	3	133,193,094 (GRCm39)	missense	possibly damaging	0.68
R1937:Tet2	UTSW	3	133,194,399 (GRCm39)	missense	possibly damaging	0.68
R1939:Tet2	UTSW	3	133,194,399 (GRCm39)	missense	possibly damaging	0.68
R1940:Tet2	UTSW	3	133,194,399 (GRCm39)	missense	possibly damaging	0.68
R1997:Tet2	UTSW	3	133,192,350 (GRCm39)	nonsense	probably null
R2082:Tet2	UTSW	3	133,191,488 (GRCm39)	missense	possibly damaging	0.96
R2084:Tet2	UTSW	3	133,193,528 (GRCm39)	missense	possibly damaging	0.68
R2215:Tet2	UTSW	3	133,192,362 (GRCm39)	missense	probably benign	0.03
R2321:Tet2	UTSW	3	133,192,100 (GRCm39)	missense	possibly damaging	0.53
R2873:Tet2	UTSW	3	133,192,715 (GRCm39)	missense	probably damaging	1.00
R3439:Tet2	UTSW	3	133,172,592 (GRCm39)	missense	possibly damaging	0.93
R3783:Tet2	UTSW	3	133,185,124 (GRCm39)	missense	possibly damaging	0.53
R3894:Tet2	UTSW	3	133,175,238 (GRCm39)	missense	possibly damaging	0.86
R3916:Tet2	UTSW	3	133,191,816 (GRCm39)	missense	possibly damaging	0.53
R3966:Tet2	UTSW	3	133,193,418 (GRCm39)	missense	possibly damaging	0.73
R4457:Tet2	UTSW	3	133,191,324 (GRCm39)	missense	possibly damaging	0.85
R4633:Tet2	UTSW	3	133,191,310 (GRCm39)	missense	probably benign	0.33
R4646:Tet2	UTSW	3	133,193,843 (GRCm39)	missense	probably benign	0.02
R4647:Tet2	UTSW	3	133,193,843 (GRCm39)	missense	probably benign	0.02
R4648:Tet2	UTSW	3	133,193,843 (GRCm39)	missense	probably benign	0.02
R4691:Tet2	UTSW	3	133,191,844 (GRCm39)	missense	possibly damaging	0.73
R4805:Tet2	UTSW	3	133,173,076 (GRCm39)	missense	probably benign	0.32
R4829:Tet2	UTSW	3	133,182,381 (GRCm39)	missense	possibly damaging	0.91
R4901:Tet2	UTSW	3	133,172,805 (GRCm39)	missense	possibly damaging	0.86
R4975:Tet2	UTSW	3	133,192,520 (GRCm39)	unclassified	probably benign
R5004:Tet2	UTSW	3	133,193,140 (GRCm39)	missense	possibly damaging	0.84
R5075:Tet2	UTSW	3	133,192,667 (GRCm39)	missense	probably benign
R5137:Tet2	UTSW	3	133,182,326 (GRCm39)	missense	probably benign	0.32
R5324:Tet2	UTSW	3	133,191,674 (GRCm39)	missense	probably benign	0.00
R5590:Tet2	UTSW	3	133,182,241 (GRCm39)	splice site	probably null
R5854:Tet2	UTSW	3	133,193,646 (GRCm39)	missense	probably damaging	0.98
R5856:Tet2	UTSW	3	133,192,401 (GRCm39)	missense	probably benign	0.01
R5865:Tet2	UTSW	3	133,192,860 (GRCm39)	missense	probably benign	0.08
R5879:Tet2	UTSW	3	133,193,721 (GRCm39)	missense	possibly damaging	0.96
R5935:Tet2	UTSW	3	133,194,296 (GRCm39)	missense	possibly damaging	0.68
R6012:Tet2	UTSW	3	133,172,542 (GRCm39)	missense	possibly damaging	0.86
R6075:Tet2	UTSW	3	133,177,196 (GRCm39)	missense	possibly damaging	0.71
R6181:Tet2	UTSW	3	133,193,520 (GRCm39)	nonsense	probably null
R6188:Tet2	UTSW	3	133,186,087 (GRCm39)	missense	probably benign	0.18
R6339:Tet2	UTSW	3	133,192,178 (GRCm39)	missense	possibly damaging	0.53
R6612:Tet2	UTSW	3	133,193,096 (GRCm39)	missense	possibly damaging	0.53
R6923:Tet2	UTSW	3	133,185,102 (GRCm39)	critical splice donor site	probably null
R6934:Tet2	UTSW	3	133,188,998 (GRCm39)	critical splice donor site	probably null
R7076:Tet2	UTSW	3	133,172,784 (GRCm39)	missense	possibly damaging	0.71
R7155:Tet2	UTSW	3	133,175,352 (GRCm39)	missense	possibly damaging	0.71
R7184:Tet2	UTSW	3	133,179,391 (GRCm39)	missense	probably damaging	0.98
R7200:Tet2	UTSW	3	133,192,953 (GRCm39)	missense	probably benign	0.18
R7459:Tet2	UTSW	3	133,186,050 (GRCm39)	missense	possibly damaging	0.53
R7504:Tet2	UTSW	3	133,193,100 (GRCm39)	missense	probably benign	0.33
R7524:Tet2	UTSW	3	133,185,990 (GRCm39)	missense	probably benign	0.33
R7613:Tet2	UTSW	3	133,172,509 (GRCm39)	missense	possibly damaging	0.83
R7653:Tet2	UTSW	3	133,192,146 (GRCm39)	missense	probably benign	0.18
R7691:Tet2	UTSW	3	133,192,610 (GRCm39)	missense	probably damaging	0.98
R7770:Tet2	UTSW	3	133,186,056 (GRCm39)	missense	possibly damaging	0.53
R7807:Tet2	UTSW	3	133,192,302 (GRCm39)	missense	possibly damaging	0.53
R7813:Tet2	UTSW	3	133,179,404 (GRCm39)	missense	probably benign	0.06
R7978:Tet2	UTSW	3	133,193,426 (GRCm39)	missense	possibly damaging	0.96
R8055:Tet2	UTSW	3	133,173,753 (GRCm39)	missense	possibly damaging	0.93
R8164:Tet2	UTSW	3	133,172,895 (GRCm39)	missense	possibly damaging	0.85
R8236:Tet2	UTSW	3	133,193,547 (GRCm39)	missense	probably benign	0.00
R8755:Tet2	UTSW	3	133,194,039 (GRCm39)	missense	probably damaging	0.99
R8962:Tet2	UTSW	3	133,193,804 (GRCm39)	missense	probably benign	0.22
R9009:Tet2	UTSW	3	133,193,360 (GRCm39)	missense	possibly damaging	0.86
R9014:Tet2	UTSW	3	133,172,949 (GRCm39)	missense	probably damaging	0.99
R9128:Tet2	UTSW	3	133,175,374 (GRCm39)	missense	possibly damaging	0.85
R9166:Tet2	UTSW	3	133,173,933 (GRCm39)	missense	probably damaging	1.00
R9190:Tet2	UTSW	3	133,187,147 (GRCm39)	missense	possibly damaging	0.73
R9344:Tet2	UTSW	3	133,175,115 (GRCm39)	missense	possibly damaging	0.86
R9360:Tet2	UTSW	3	133,192,903 (GRCm39)	missense	possibly damaging	0.72
R9471:Tet2	UTSW	3	133,191,680 (GRCm39)	missense	probably damaging	1.00
R9488:Tet2	UTSW	3	133,193,103 (GRCm39)	missense	probably benign	0.18
R9534:Tet2	UTSW	3	133,173,689 (GRCm39)	nonsense	probably null
R9557:Tet2	UTSW	3	133,191,566 (GRCm39)	missense	probably benign
R9621:Tet2	UTSW	3	133,193,767 (GRCm39)	nonsense	probably null
R9644:Tet2	UTSW	3	133,193,064 (GRCm39)	nonsense	probably null
R9719:Tet2	UTSW	3	133,191,803 (GRCm39)	missense	possibly damaging	0.86
X0021:Tet2	UTSW	3	133,192,056 (GRCm39)	missense	possibly damaging	0.85
X0066:Tet2	UTSW	3	133,194,134 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGCCTTAAGTGTCACACAGCTTACC -3'
(R):5'- GCTTGGAACATCTCACATCCGCTTC -3'

Sequencing Primer
(F):5'- GTGAGGAAGACTTTCCCTTCTCAG -3'
(R):5'- ACATCCGCTTCAGGTGGTC -3'

Posted On

2014-04-13