Mutagenetix > Incidental Mutation

Incidental Mutation 'R7691:Tet2'

593382

Institutional Source

Beutler Lab

Gene Symbol

Tet2

Ensembl Gene

ENSMUSG00000040943

Gene Name

tet methylcytosine dioxygenase 2

Synonyms

E130014J05Rik, Ayu17-449

MMRRC Submission

045755-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7691 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133169438-133250882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133192610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 608 (D608V)

Ref Sequence

ENSEMBL: ENSMUSP00000143029 (fasta)

Gene Model

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

AlphaFold

Q4JK59

Predicted Effect

probably damaging
Transcript: ENSMUST00000098603
AA Change: D608V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: D608V

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 damaging
Transcript: ENSMUST00000196398
AA Change: D608V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: D608V

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: 99.5%
20x: 98.5%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,773,219 (GRCm39)	C1763S	probably damaging	Het
Adcy3	T	C	12: 4,256,540 (GRCm39)	V782A	probably benign	Het
Arhgef17	G	A	7: 100,578,849 (GRCm39)	R700C	probably damaging	Het
Atxn2l	T	C	7: 126,091,782 (GRCm39)		probably null	Het
Bach2	A	G	4: 32,580,271 (GRCm39)	E832G	probably damaging	Het
Brpf3	G	C	17: 29,025,805 (GRCm39)	A293P	probably damaging	Het
Cacfd1	T	C	2: 26,900,106 (GRCm39)	L36P	probably damaging	Het
Camsap2	T	C	1: 136,220,742 (GRCm39)	E268G	probably damaging	Het
Ccnjl	A	T	11: 43,474,028 (GRCm39)	Q201L	probably benign	Het
Cdan1	A	G	2: 120,560,048 (GRCm39)	V372A	probably damaging	Het
Cenpf	C	A	1: 189,390,404 (GRCm39)	E1143*	probably null	Het
Colgalt1	A	T	8: 72,073,398 (GRCm39)	M340L	probably benign	Het
Crybg3	A	G	16: 59,376,497 (GRCm39)	Y1586H	not run	Het
Csmd3	A	G	15: 47,604,569 (GRCm39)	I1058T		Het
Dock1	G	A	7: 134,739,886 (GRCm39)		probably null	Het
Dzank1	G	A	2: 144,348,091 (GRCm39)	T225I	probably damaging	Het
Eif3c	G	A	7: 126,151,162 (GRCm39)	R721W	possibly damaging	Het
Fdps	A	G	3: 89,006,674 (GRCm39)	V72A	probably benign	Het
Filip1l	A	G	16: 57,392,796 (GRCm39)	N1128S	probably benign	Het
Fmnl2	T	A	2: 52,991,510 (GRCm39)	Y342N	unknown	Het
Gria1	A	T	11: 57,127,813 (GRCm39)	I410F	possibly damaging	Het
Gsdmc4	C	A	15: 63,765,640 (GRCm39)	S303I	probably damaging	Het
Herc2	C	T	7: 55,841,593 (GRCm39)	P3491S	probably benign	Het
Ift25	A	G	4: 107,130,886 (GRCm39)	I59V	probably benign	Het
Lama2	T	C	10: 27,084,389 (GRCm39)	H927R	possibly damaging	Het
Lrrc8e	T	C	8: 4,284,534 (GRCm39)	M253T	probably damaging	Het
Ltn1	G	T	16: 87,195,574 (GRCm39)	H1317Q	probably damaging	Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Mki67	C	T	7: 135,303,721 (GRCm39)	V716I	not run	Het
Mllt10	G	C	2: 18,208,423 (GRCm39)	S694T	probably null	Het
Mllt10	A	G	2: 18,208,422 (GRCm39)	S694G	possibly damaging	Het
Mtcl1	A	G	17: 66,687,352 (GRCm39)	L518S	probably damaging	Het
Or2ad1	G	A	13: 21,327,140 (GRCm39)	A29V	probably benign	Het
Pcdh10	G	T	3: 45,335,632 (GRCm39)	D649Y	probably damaging	Het
Pdgfrb	C	T	18: 61,194,340 (GRCm39)	T39M	probably benign	Het
Pls1	T	C	9: 95,655,726 (GRCm39)	E342G	probably benign	Het
Pon1	C	T	6: 5,175,819 (GRCm39)	V235I	probably benign	Het
Rhobtb3	A	T	13: 76,027,056 (GRCm39)	V439E	probably damaging	Het
Septin8	A	G	11: 53,428,414 (GRCm39)	T355A	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Ssc5d	C	T	7: 4,947,168 (GRCm39)	T1174I	probably benign	Het
Sspo	A	T	6: 48,461,163 (GRCm39)	T3535S	probably benign	Het
Stk39	A	G	2: 68,301,983 (GRCm39)	V80A	probably damaging	Het
Sult2b1	T	C	7: 45,384,708 (GRCm39)	I123V	probably benign	Het
Sv2a	A	T	3: 96,095,727 (GRCm39)	I348F	probably benign	Het
Taar8b	T	A	10: 23,967,436 (GRCm39)	R253*	probably null	Het
Tbc1d4	T	C	14: 101,745,077 (GRCm39)	K183R	probably damaging	Het
Tnfsf14	T	A	17: 57,501,024 (GRCm39)	T16S	possibly damaging	Het
Togaram2	A	G	17: 72,023,405 (GRCm39)	T774A	probably benign	Het
Tshr	C	A	12: 91,464,515 (GRCm39)	A87E	probably benign	Het
Tsn	T	C	1: 118,237,505 (GRCm39)	D53G	probably benign	Het
Usp37	TC	T	1: 74,525,919 (GRCm39)		probably null	Het
Vav2	T	A	2: 27,187,750 (GRCm39)		probably null	Het
Vmn2r52	T	A	7: 9,893,109 (GRCm39)	I677F	probably damaging	Het
Vmn2r65	T	A	7: 84,592,851 (GRCm39)	Y452F	probably benign	Het
Vmn2r79	A	G	7: 86,687,111 (GRCm39)	R831G	probably damaging	Het
Zfp821	T	C	8: 110,447,871 (GRCm39)	S71P	probably damaging	Het
Zwilch	T	A	9: 64,063,373 (GRCm39)	I286F	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
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
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'- AACCGTTGAGTCTCTGTGGC -3'
(R):5'- GCCCCGAATTTGCATGAAGC -3'

Sequencing Primer
(F):5'- GGCCTGTTGACTCAAATGC -3'
(R):5'- GGATATATCCTTGCACTCAGTCC -3'

Posted On

2019-11-12