Mutagenetix > Incidental Mutation

Incidental Mutation 'R6181:Tet2'

488064

Institutional Source

Beutler Lab

Gene Symbol

Tet2

Ensembl Gene

ENSMUSG00000040943

Gene Name

tet methylcytosine dioxygenase 2

Synonyms

E130014J05Rik, Ayu17-449

MMRRC Submission

044323-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6181 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133169438-133250882 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 133193520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 305 (E305*)

Ref Sequence

ENSEMBL: ENSMUSP00000143029 (fasta)

Gene Model

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

AlphaFold

Q4JK59

Predicted Effect

probably null
Transcript: ENSMUST00000098603
AA Change: E305*

SMART Domains

Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: E305*

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 null
Transcript: ENSMUST00000196398
AA Change: E305*

SMART Domains

Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: E305*

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b7	A	G	6: 34,392,313 (GRCm39)	H42R	possibly damaging	Het
Ankrd26	T	A	6: 118,525,838 (GRCm39)	H369L	probably benign	Het
Ano7	T	C	1: 93,323,081 (GRCm39)	S474P	probably damaging	Het
Aox3	T	C	1: 58,198,105 (GRCm39)	V639A	probably benign	Het
Arhgef2	T	A	3: 88,542,927 (GRCm39)	V358E	probably damaging	Het
Brpf3	A	G	17: 29,029,555 (GRCm39)	Y505C	probably damaging	Het
Casd1	A	G	6: 4,619,331 (GRCm39)	T120A	probably damaging	Het
Ccdc121	A	G	5: 31,645,399 (GRCm39)	E384G	probably damaging	Het
Cd200l1	A	G	16: 45,238,260 (GRCm39)	S185P	probably benign	Het
Clasp1	T	G	1: 118,347,547 (GRCm39)	S32A	probably benign	Het
Clca3a2	A	T	3: 144,796,469 (GRCm39)	L246*	probably null	Het
Clcn7	A	G	17: 25,370,702 (GRCm39)	I353V	possibly damaging	Het
Cluap1	T	A	16: 3,751,608 (GRCm39)	D322E	probably benign	Het
Cmtm4	A	C	8: 105,082,997 (GRCm39)		probably null	Het
Cntnap2	C	T	6: 46,736,742 (GRCm39)	P723S	probably damaging	Het
Col6a3	T	A	1: 90,744,096 (GRCm39)	T84S	possibly damaging	Het
Corin	A	G	5: 72,529,439 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,354,687 (GRCm39)	T1903I	probably benign	Het
Cyp27b1	A	C	10: 126,886,279 (GRCm39)	D320A	probably damaging	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Dennd2a	T	C	6: 39,462,554 (GRCm39)	K652R	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock1	T	A	7: 134,760,251 (GRCm39)	M1638K	probably damaging	Het
Efcab3	T	C	11: 104,722,159 (GRCm39)	S1924P	probably benign	Het
Eya1	T	C	1: 14,373,096 (GRCm39)	S8G	probably damaging	Het
Fam193a	T	A	5: 34,600,884 (GRCm39)		probably null	Het
Fbxw11	T	A	11: 32,692,575 (GRCm39)	N515K	probably benign	Het
Gm6408	T	C	5: 146,420,582 (GRCm39)	V154A	possibly damaging	Het
Guf1	A	G	5: 69,719,059 (GRCm39)	Y235C	probably damaging	Het
Hnrnpul2	C	T	19: 8,800,596 (GRCm39)	S224L	possibly damaging	Het
Igkv8-19	T	A	6: 70,317,968 (GRCm39)	D86V	probably damaging	Het
Iqcf1	A	T	9: 106,379,174 (GRCm39)	D61V	probably damaging	Het
Lrp5	T	C	19: 3,678,427 (GRCm39)	D476G	probably damaging	Het
Luzp1	A	G	4: 136,270,578 (GRCm39)	T934A	probably benign	Het
Mboat7	A	T	7: 3,686,884 (GRCm39)	Y319N	probably benign	Het
Mdn1	A	G	4: 32,715,953 (GRCm39)	E2045G	probably damaging	Het
Mfsd14b	T	C	13: 65,260,398 (GRCm39)	R12G	probably benign	Het
Micall2	T	A	5: 139,702,506 (GRCm39)	T246S	probably benign	Het
Npepps	A	G	11: 97,132,830 (GRCm39)	V299A	probably damaging	Het
Or2y11	T	A	11: 49,443,120 (GRCm39)	V182D	probably damaging	Het
P2ry13	A	G	3: 59,117,328 (GRCm39)	V150A	probably benign	Het
Pdc	T	C	1: 150,209,021 (GRCm39)	I168T	probably damaging	Het
Pde8b	C	T	13: 95,223,316 (GRCm39)	E313K	probably benign	Het
Pgap1	C	T	1: 54,551,936 (GRCm39)	G499R	probably benign	Het
Ppp1r15b	T	A	1: 133,060,261 (GRCm39)	C259*	probably null	Het
Pramel21	T	A	4: 143,342,828 (GRCm39)		probably null	Het
Ptgs1	A	G	2: 36,141,131 (GRCm39)	E526G	probably damaging	Het
Ptpn21	A	G	12: 98,666,258 (GRCm39)	L271P	probably damaging	Het
Rbm47	T	C	5: 66,183,833 (GRCm39)	T257A	possibly damaging	Het
Rfc3	C	T	5: 151,570,985 (GRCm39)	D104N	probably damaging	Het
Rhobtb3	A	G	13: 76,058,808 (GRCm39)	I330T	probably benign	Het
Rnf207	T	C	4: 152,393,305 (GRCm39)	T570A	probably benign	Het
Rusf1	A	G	7: 127,896,632 (GRCm39)		probably null	Het
Sbpl	T	C	17: 24,172,466 (GRCm39)	H151R	probably damaging	Het
Sstr3	T	C	15: 78,423,661 (GRCm39)	D362G	probably benign	Het
St7	T	C	6: 17,694,363 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,194,235 (GRCm39)	M1145K	probably benign	Het
Tdrd6	A	G	17: 43,939,788 (GRCm39)	V420A	probably damaging	Het
Tmem209	A	T	6: 30,505,970 (GRCm39)	V68E	probably damaging	Het
Tmod4	A	T	3: 95,035,118 (GRCm39)	I208F	probably damaging	Het
Tpo	G	A	12: 30,181,884 (GRCm39)	L4F	probably benign	Het
Urb1	T	C	16: 90,575,982 (GRCm39)	H858R	probably benign	Het
Utrn	A	G	10: 12,615,200 (GRCm39)	W324R	probably damaging	Het
V1rd19	T	A	7: 23,702,640 (GRCm39)	F35L	possibly damaging	Het
Vmn1r170	C	A	7: 23,305,692 (GRCm39)	N31K	probably damaging	Het
Vmn1r192	T	A	13: 22,371,452 (GRCm39)	Y256F	probably damaging	Het
Vmn2r124	T	C	17: 18,294,019 (GRCm39)	I702T	possibly damaging	Het
Vmn2r96	G	A	17: 18,804,126 (GRCm39)	A459T	probably benign	Het
Vwf	G	T	6: 125,543,109 (GRCm39)	A132S	probably damaging	Het
Zfp202	G	A	9: 40,118,638 (GRCm39)	G17E	probably damaging	Het
Zfp608	A	G	18: 55,028,700 (GRCm39)	S1238P	possibly damaging	Het
Zfp804a	G	T	2: 82,087,486 (GRCm39)	M438I	probably damaging	Het
Zgrf1	G	A	3: 127,381,590 (GRCm39)	G246S	probably damaging	Het
Zwint	T	C	10: 72,492,431 (GRCm39)	V115A	probably benign	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
R1550:Tet2	UTSW	3	133,175,280 (GRCm39)	missense	probably benign	0.32
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
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'- AACTTCGAGCTTTGCCTGAAG -3'
(R):5'- GTAAACACCCCTAGCAGTCAGG -3'

Sequencing Primer
(F):5'- GCTTTGCCTGAAGTAAGCAC -3'
(R):5'- TGCTATCGAGTTGTCCCACGAG -3'

Posted On

2017-10-10