Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:Tet2'

309729

Institutional Source

Beutler Lab

Gene Symbol

Tet2

Ensembl Gene

ENSMUSG00000040943

Gene Name

tet methylcytosine dioxygenase 2

Synonyms

E130014J05Rik, Ayu17-449

Accession Numbers

Ncbi RefSeq: NM_001040400.2; MGI:2443298

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133463679-133545139 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133486055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 873 (K873E)

Ref Sequence

ENSEMBL: ENSMUSP00000143029 (fasta)

Gene Model

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

AlphaFold

Q4JK59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098603
AA Change: K873E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: K873E

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: K873E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: K873E

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985 (GRCm38)	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214 (GRCm38)	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935 (GRCm38)	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279 (GRCm38)	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443 (GRCm38)	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197 (GRCm38)	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033 (GRCm38)	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653 (GRCm38)	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075 (GRCm38)	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652 (GRCm38)	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181 (GRCm38)	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746 (GRCm38)	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825 (GRCm38)	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500 (GRCm38)		probably benign	Het
Cntnap4	C	G	8: 112,875,533 (GRCm38)	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611 (GRCm38)	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037 (GRCm38)	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480 (GRCm38)	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133 (GRCm38)	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372 (GRCm38)	T377A	probably damaging	Het
F2	G	A	2: 91,625,488 (GRCm38)	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734 (GRCm38)	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557 (GRCm38)		probably null	Het
Gabarapl2	T	A	8: 111,952,396 (GRCm38)	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371 (GRCm38)		probably null	Het
Ifi204	T	G	1: 173,755,775 (GRCm38)	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303 (GRCm38)	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164 (GRCm38)		probably null	Het
Krt88	G	A	15: 101,452,928 (GRCm38)		probably null	Het
Larp4	C	T	15: 99,990,403 (GRCm38)	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342 (GRCm38)		probably benign	Het
Lrrc37a	T	C	11: 103,455,518 (GRCm38)	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035 (GRCm38)	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295 (GRCm38)	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046 (GRCm38)	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811 (GRCm38)	C608*	probably null	Het
Obox3	C	A	7: 15,627,226 (GRCm38)	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248 (GRCm38)	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545 (GRCm38)	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788 (GRCm38)	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613 (GRCm38)	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244 (GRCm38)	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458 (GRCm38)	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158 (GRCm38)		probably benign	Het
Slc6a3	A	G	13: 73,562,308 (GRCm38)	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684 (GRCm38)		probably null	Het
Spns1	A	T	7: 126,371,539 (GRCm38)		probably null	Het
Supv3l1	T	C	10: 62,449,420 (GRCm38)	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505 (GRCm38)	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649 (GRCm38)	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748 (GRCm38)	I296T	possibly damaging	Het
Thada	G	A	17: 84,441,782 (GRCm38)	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996 (GRCm38)	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361 (GRCm38)	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384 (GRCm38)	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734 (GRCm38)	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519 (GRCm38)	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190 (GRCm38)	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495 (GRCm38)	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910 (GRCm38)	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422 (GRCm38)	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277 (GRCm38)	Y356H	possibly damaging	Het

Other mutations in Tet2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Tet2	APN	3	133,488,085 (GRCm38)	missense	possibly damaging	0.96
IGL00401:Tet2	APN	3	133,466,882 (GRCm38)	missense	possibly damaging	0.72
IGL01528:Tet2	APN	3	133,480,298 (GRCm38)	missense	possibly damaging	0.86
IGL02053:Tet2	APN	3	133,488,523 (GRCm38)	missense	possibly damaging	0.96
IGL02142:Tet2	APN	3	133,480,139 (GRCm38)	missense	possibly damaging	0.96
IGL02512:Tet2	APN	3	133,469,308 (GRCm38)	missense	probably benign	0.05
IGL03148:Tet2	APN	3	133,481,363 (GRCm38)	missense	probably benign	0.18
IGL03182:Tet2	APN	3	133,471,398 (GRCm38)	nonsense	probably null
IGL03371:Tet2	APN	3	133,467,551 (GRCm38)	missense	possibly damaging	0.71
P0022:Tet2	UTSW	3	133,486,893 (GRCm38)	missense	probably benign	0.01
P0023:Tet2	UTSW	3	133,486,893 (GRCm38)	missense	probably benign	0.01
P0031:Tet2	UTSW	3	133,480,202 (GRCm38)	missense	possibly damaging	0.53
R0012:Tet2	UTSW	3	133,476,558 (GRCm38)	missense	probably damaging	0.98
R0012:Tet2	UTSW	3	133,476,558 (GRCm38)	missense	probably damaging	0.98
R0463:Tet2	UTSW	3	133,486,666 (GRCm38)	missense	possibly damaging	0.86
R0522:Tet2	UTSW	3	133,466,804 (GRCm38)	missense	probably damaging	0.98
R0593:Tet2	UTSW	3	133,488,109 (GRCm38)	missense	probably benign	0.00
R0600:Tet2	UTSW	3	133,467,725 (GRCm38)	missense	probably benign	0.01
R0600:Tet2	UTSW	3	133,467,602 (GRCm38)	missense	probably benign	0.00
R0698:Tet2	UTSW	3	133,467,384 (GRCm38)	missense	probably benign	0.32
R0723:Tet2	UTSW	3	133,467,284 (GRCm38)	missense	probably benign
R0726:Tet2	UTSW	3	133,468,184 (GRCm38)	missense	probably benign
R0747:Tet2	UTSW	3	133,467,470 (GRCm38)	missense	possibly damaging	0.86
R1006:Tet2	UTSW	3	133,476,601 (GRCm38)	missense	possibly damaging	0.53
R1382:Tet2	UTSW	3	133,476,615 (GRCm38)	missense	probably damaging	1.00
R1455:Tet2	UTSW	3	133,473,645 (GRCm38)	missense	possibly damaging	0.51
R1550:Tet2	UTSW	3	133,469,519 (GRCm38)	missense	probably benign	0.32
R1647:Tet2	UTSW	3	133,485,880 (GRCm38)	missense	probably benign
R1662:Tet2	UTSW	3	133,466,852 (GRCm38)	missense	possibly damaging	0.96
R1727:Tet2	UTSW	3	133,487,290 (GRCm38)	missense	probably damaging	0.98
R1738:Tet2	UTSW	3	133,481,387 (GRCm38)	missense	probably benign	0.08
R1749:Tet2	UTSW	3	133,480,131 (GRCm38)	critical splice donor site	probably null
R1869:Tet2	UTSW	3	133,481,441 (GRCm38)	splice site	probably null
R1887:Tet2	UTSW	3	133,487,333 (GRCm38)	missense	possibly damaging	0.68
R1937:Tet2	UTSW	3	133,488,638 (GRCm38)	missense	possibly damaging	0.68
R1939:Tet2	UTSW	3	133,488,638 (GRCm38)	missense	possibly damaging	0.68
R1940:Tet2	UTSW	3	133,488,638 (GRCm38)	missense	possibly damaging	0.68
R1997:Tet2	UTSW	3	133,486,589 (GRCm38)	nonsense	probably null
R2082:Tet2	UTSW	3	133,485,727 (GRCm38)	missense	possibly damaging	0.96
R2084:Tet2	UTSW	3	133,487,767 (GRCm38)	missense	possibly damaging	0.68
R2215:Tet2	UTSW	3	133,486,601 (GRCm38)	missense	probably benign	0.03
R2321:Tet2	UTSW	3	133,486,339 (GRCm38)	missense	possibly damaging	0.53
R2873:Tet2	UTSW	3	133,486,954 (GRCm38)	missense	probably damaging	1.00
R3439:Tet2	UTSW	3	133,466,831 (GRCm38)	missense	possibly damaging	0.93
R3783:Tet2	UTSW	3	133,479,363 (GRCm38)	missense	possibly damaging	0.53
R3894:Tet2	UTSW	3	133,469,477 (GRCm38)	missense	possibly damaging	0.86
R3966:Tet2	UTSW	3	133,487,657 (GRCm38)	missense	possibly damaging	0.73
R4457:Tet2	UTSW	3	133,485,563 (GRCm38)	missense	possibly damaging	0.85
R4633:Tet2	UTSW	3	133,485,549 (GRCm38)	missense	probably benign	0.33
R4646:Tet2	UTSW	3	133,488,082 (GRCm38)	missense	probably benign	0.02
R4647:Tet2	UTSW	3	133,488,082 (GRCm38)	missense	probably benign	0.02
R4648:Tet2	UTSW	3	133,488,082 (GRCm38)	missense	probably benign	0.02
R4691:Tet2	UTSW	3	133,486,083 (GRCm38)	missense	possibly damaging	0.73
R4805:Tet2	UTSW	3	133,467,315 (GRCm38)	missense	probably benign	0.32
R4829:Tet2	UTSW	3	133,476,620 (GRCm38)	missense	possibly damaging	0.91
R4901:Tet2	UTSW	3	133,467,044 (GRCm38)	missense	possibly damaging	0.86
R4975:Tet2	UTSW	3	133,486,759 (GRCm38)	unclassified	probably benign
R5004:Tet2	UTSW	3	133,487,379 (GRCm38)	missense	possibly damaging	0.84
R5075:Tet2	UTSW	3	133,486,906 (GRCm38)	missense	probably benign
R5137:Tet2	UTSW	3	133,476,565 (GRCm38)	missense	probably benign	0.32
R5324:Tet2	UTSW	3	133,485,913 (GRCm38)	missense	probably benign	0.00
R5590:Tet2	UTSW	3	133,476,480 (GRCm38)	splice site	probably null
R5854:Tet2	UTSW	3	133,487,885 (GRCm38)	missense	probably damaging	0.98
R5856:Tet2	UTSW	3	133,486,640 (GRCm38)	missense	probably benign	0.01
R5865:Tet2	UTSW	3	133,487,099 (GRCm38)	missense	probably benign	0.08
R5879:Tet2	UTSW	3	133,487,960 (GRCm38)	missense	possibly damaging	0.96
R5935:Tet2	UTSW	3	133,488,535 (GRCm38)	missense	possibly damaging	0.68
R6012:Tet2	UTSW	3	133,466,781 (GRCm38)	missense	possibly damaging	0.86
R6075:Tet2	UTSW	3	133,471,435 (GRCm38)	missense	possibly damaging	0.71
R6181:Tet2	UTSW	3	133,487,759 (GRCm38)	nonsense	probably null
R6188:Tet2	UTSW	3	133,480,326 (GRCm38)	missense	probably benign	0.18
R6339:Tet2	UTSW	3	133,486,417 (GRCm38)	missense	possibly damaging	0.53
R6612:Tet2	UTSW	3	133,487,335 (GRCm38)	missense	possibly damaging	0.53
R6923:Tet2	UTSW	3	133,479,341 (GRCm38)	critical splice donor site	probably null
R6934:Tet2	UTSW	3	133,483,237 (GRCm38)	critical splice donor site	probably null
R7076:Tet2	UTSW	3	133,467,023 (GRCm38)	missense	possibly damaging	0.71
R7155:Tet2	UTSW	3	133,469,591 (GRCm38)	missense	possibly damaging	0.71
R7184:Tet2	UTSW	3	133,473,630 (GRCm38)	missense	probably damaging	0.98
R7200:Tet2	UTSW	3	133,487,192 (GRCm38)	missense	probably benign	0.18
R7459:Tet2	UTSW	3	133,480,289 (GRCm38)	missense	possibly damaging	0.53
R7504:Tet2	UTSW	3	133,487,339 (GRCm38)	missense	probably benign	0.33
R7524:Tet2	UTSW	3	133,480,229 (GRCm38)	missense	probably benign	0.33
R7613:Tet2	UTSW	3	133,466,748 (GRCm38)	missense	possibly damaging	0.83
R7653:Tet2	UTSW	3	133,486,385 (GRCm38)	missense	probably benign	0.18
R7691:Tet2	UTSW	3	133,486,849 (GRCm38)	missense	probably damaging	0.98
R7770:Tet2	UTSW	3	133,480,295 (GRCm38)	missense	possibly damaging	0.53
R7807:Tet2	UTSW	3	133,486,541 (GRCm38)	missense	possibly damaging	0.53
R7813:Tet2	UTSW	3	133,473,643 (GRCm38)	missense	probably benign	0.06
R7978:Tet2	UTSW	3	133,487,665 (GRCm38)	missense	possibly damaging	0.96
R8055:Tet2	UTSW	3	133,467,992 (GRCm38)	missense	possibly damaging	0.93
R8164:Tet2	UTSW	3	133,467,134 (GRCm38)	missense	possibly damaging	0.85
R8236:Tet2	UTSW	3	133,487,786 (GRCm38)	missense	probably benign	0.00
R8755:Tet2	UTSW	3	133,488,278 (GRCm38)	missense	probably damaging	0.99
R8962:Tet2	UTSW	3	133,488,043 (GRCm38)	missense	probably benign	0.22
R9009:Tet2	UTSW	3	133,487,599 (GRCm38)	missense	possibly damaging	0.86
R9014:Tet2	UTSW	3	133,467,188 (GRCm38)	missense	probably damaging	0.99
R9128:Tet2	UTSW	3	133,469,613 (GRCm38)	missense	possibly damaging	0.85
R9166:Tet2	UTSW	3	133,468,172 (GRCm38)	missense	probably damaging	1.00
R9190:Tet2	UTSW	3	133,481,386 (GRCm38)	missense	possibly damaging	0.73
R9344:Tet2	UTSW	3	133,469,354 (GRCm38)	missense	possibly damaging	0.86
R9360:Tet2	UTSW	3	133,487,142 (GRCm38)	missense	possibly damaging	0.72
R9471:Tet2	UTSW	3	133,485,919 (GRCm38)	missense	probably damaging	1.00
R9488:Tet2	UTSW	3	133,487,342 (GRCm38)	missense	probably benign	0.18
R9534:Tet2	UTSW	3	133,467,928 (GRCm38)	nonsense	probably null
R9557:Tet2	UTSW	3	133,485,805 (GRCm38)	missense	probably benign
R9621:Tet2	UTSW	3	133,488,006 (GRCm38)	nonsense	probably null
R9644:Tet2	UTSW	3	133,487,303 (GRCm38)	nonsense	probably null
R9719:Tet2	UTSW	3	133,486,042 (GRCm38)	missense	possibly damaging	0.86
X0021:Tet2	UTSW	3	133,486,295 (GRCm38)	missense	possibly damaging	0.85
X0066:Tet2	UTSW	3	133,488,373 (GRCm38)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTCAGTCTTGATTGGCCTAAGC -3'
(R):5'- GGAACAAGCTCTACATCCCG -3'

Sequencing Primer
(F):5'- GGCCTAAGCATCTGGTTATGACC -3'
(R):5'- CAGAACATGCAGTATTTCCCG -3'

Posted On

2015-04-17