Mutagenetix > Incidental Mutation

Incidental Mutation 'R0747:Tet2'

70174

Institutional Source

Beutler Lab

Gene Symbol

Tet2

Ensembl Gene

ENSMUSG00000040943

Gene Name

tet methylcytosine dioxygenase 2

Synonyms

E130014J05Rik, Ayu17-449

MMRRC Submission

038928-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133169438-133250882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 133173231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 1677 (H1677P)

Ref Sequence

ENSEMBL: ENSMUSP00000143029 (fasta)

Gene Model

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

AlphaFold

Q4JK59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098603
AA Change: H1669P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: H1669P

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: H1677P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: H1677P

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (50/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	A	T	11: 46,009,322 (GRCm39)		probably null	Het
Anks4b	C	T	7: 119,781,386 (GRCm39)	A139V	probably damaging	Het
Arf1	G	A	11: 59,103,461 (GRCm39)	R149C	probably benign	Het
Axl	A	T	7: 25,463,484 (GRCm39)	C598S	possibly damaging	Het
B3gnt2	T	C	11: 22,786,316 (GRCm39)	I291V	possibly damaging	Het
Ccdc158	T	A	5: 92,781,156 (GRCm39)	H883L	probably benign	Het
Cep15	T	A	14: 12,287,287 (GRCm38)	M16K	probably benign	Het
Col6a3	A	G	1: 90,730,375 (GRCm39)	S1644P	probably damaging	Het
Cspg4	T	C	9: 56,797,564 (GRCm39)	S1343P	probably damaging	Het
D430041D05Rik	G	T	2: 104,060,651 (GRCm39)	H1414Q	probably damaging	Het
Dnah5	C	G	15: 28,444,332 (GRCm39)	I4043M	probably damaging	Het
Dnah5	T	A	15: 28,444,333 (GRCm39)	C4044S	possibly damaging	Het
Dpep3	C	T	8: 106,704,018 (GRCm39)	A267T	probably benign	Het
Dync1h1	A	C	12: 110,578,845 (GRCm39)	H106P	probably benign	Het
Dync1h1	A	C	12: 110,595,718 (GRCm39)	E1466A	probably damaging	Het
Fggy	T	C	4: 95,700,337 (GRCm39)		probably benign	Het
Frmd6	A	G	12: 70,910,830 (GRCm39)	T5A	probably benign	Het
Gnb5	G	A	9: 75,218,752 (GRCm39)	V26I	probably benign	Het
Hephl1	A	T	9: 14,965,297 (GRCm39)		probably benign	Het
Hmmr	C	T	11: 40,612,572 (GRCm39)		probably benign	Het
Hpn	A	T	7: 30,798,971 (GRCm39)	F356Y	probably damaging	Het
Iqgap3	T	C	3: 88,014,810 (GRCm39)		probably benign	Het
Ism2	A	G	12: 87,332,172 (GRCm39)		probably benign	Het
Kansl1	T	A	11: 104,233,802 (GRCm39)	M754L	probably benign	Het
Kcnc4	A	T	3: 107,355,470 (GRCm39)	I326N	probably damaging	Het
Lcn6	G	A	2: 25,567,184 (GRCm39)	V62M	probably damaging	Het
Lrp1b	A	T	2: 40,760,353 (GRCm39)	C2858S	probably damaging	Het
Lyn	G	A	4: 3,745,638 (GRCm39)		probably benign	Het
Mov10	T	A	3: 104,709,812 (GRCm39)	H358L	probably benign	Het
Notch1	A	G	2: 26,362,152 (GRCm39)	V60A	unknown	Het
Or2t6	C	T	14: 14,175,429 (GRCm38)	A218T	probably benign	Het
Pgap2	C	A	7: 101,886,343 (GRCm39)	Y176*	probably null	Het
Pglyrp1	A	G	7: 18,624,200 (GRCm39)	Q161R	possibly damaging	Het
Plod3	A	G	5: 137,017,049 (GRCm39)	N66S	probably benign	Het
Psmc3	A	G	2: 90,884,645 (GRCm39)	E18G	probably benign	Het
Psme3	T	G	11: 101,207,872 (GRCm39)	M9R	probably benign	Het
Rapgef4	A	G	2: 72,053,417 (GRCm39)	N428S	possibly damaging	Het
Rbp3	A	G	14: 33,678,235 (GRCm39)	I728V	possibly damaging	Het
Sall4	A	T	2: 168,596,886 (GRCm39)	H651Q	probably damaging	Het
Skint3	T	A	4: 112,111,102 (GRCm39)	Y76N	probably damaging	Het
Slc13a4	T	C	6: 35,255,263 (GRCm39)	T342A	probably damaging	Het
Slc25a1	G	T	16: 17,744,084 (GRCm39)	T239K	probably damaging	Het
Slc36a2	T	A	11: 55,060,685 (GRCm39)	I242F	probably benign	Het
Tekt2	G	A	4: 126,217,553 (GRCm39)	Q171*	probably null	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trcg1	C	T	9: 57,149,204 (GRCm39)	P259S	probably benign	Het
Ttn	A	C	2: 76,540,942 (GRCm39)	S25688A	probably damaging	Het
Vmn2r117	T	A	17: 23,694,477 (GRCm39)	R457*	probably null	Het
Zbbx	C	T	3: 75,062,734 (GRCm39)	V8I	probably damaging	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
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
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'- GGCATGAACCTCACACTTTGCAC -3'
(R):5'- CCAGTGGACAATGGTTCCCCTTTC -3'

Sequencing Primer
(F):5'- GATCCTGAAAGTTGTGCTCAC -3'
(R):5'- GCTCAGTCCAGGGATCTACATAG -3'

Posted On

2013-09-30