Mutagenetix > Incidental Mutation

Incidental Mutation 'R7504:Tet2'

581659

Institutional Source

Beutler Lab

Gene Symbol

Tet2

Ensembl Gene

ENSMUSG00000040943

Gene Name

tet methylcytosine dioxygenase 2

Synonyms

E130014J05Rik, Ayu17-449

MMRRC Submission

045577-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7504 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133463679-133545139 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 133487339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 445 (V445L)

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: V445L

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: V445L

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: V445L

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: V445L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	G	17: 14,943,653 (GRCm38)	A14G	probably damaging	Het
Btn1a1	A	T	13: 23,461,716 (GRCm38)	M161K	probably benign	Het
Camkk2	G	A	5: 122,746,308 (GRCm38)	T350I	probably damaging	Het
Cdc42bpg	C	A	19: 6,306,784 (GRCm38)	D23E	possibly damaging	Het
Cdkn1a	T	C	17: 29,098,514 (GRCm38)	L36P	probably damaging	Het
Dek	A	G	13: 47,088,035 (GRCm38)	I351T	probably damaging	Het
Dst	T	C	1: 34,201,017 (GRCm38)	Y1816H	probably damaging	Het
Efl1	T	A	7: 82,683,049 (GRCm38)	N300K	probably damaging	Het
Ephx2	A	G	14: 66,101,617 (GRCm38)	Y294H	probably damaging	Het
Fancd2	T	A	6: 113,545,038 (GRCm38)	I198N	probably damaging	Het
Grid1	G	T	14: 35,562,513 (GRCm38)	A738S	probably damaging	Het
Gsx2	G	A	5: 75,076,399 (GRCm38)		probably null	Het
Hc	G	A	2: 35,061,319 (GRCm38)	T22I	not run	Het
Hps1	T	C	19: 42,766,720 (GRCm38)	D261G	probably benign	Het
Ift80	T	C	3: 68,918,005 (GRCm38)	Y539C	probably damaging	Het
Insc	G	T	7: 114,791,298 (GRCm38)		probably null	Het
Isg15	T	C	4: 156,200,045 (GRCm38)	M9V	probably damaging	Het
Kalrn	A	G	16: 34,256,233 (GRCm38)	L695P	unknown	Het
Nars1	A	C	18: 64,512,022 (GRCm38)	F52V	probably benign	Het
Nmt1	T	G	11: 103,056,459 (GRCm38)	F225V	probably damaging	Het
Or10q12	T	A	19: 13,768,732 (GRCm38)	I130N	probably damaging	Het
Or7a36	A	G	10: 78,984,660 (GRCm38)	Y290C	possibly damaging	Het
Or8c8	A	T	9: 38,254,243 (GRCm38)	K272N	possibly damaging	Het
Pbx3	T	C	2: 34,175,924 (GRCm38)	T385A	probably damaging	Het
Pcdhb11	A	T	18: 37,421,799 (GRCm38)	T61S	probably benign	Het
Pramel40	G	T	5: 94,317,047 (GRCm38)	V431L	probably benign	Het
Rab11fip1	T	C	8: 27,152,953 (GRCm38)	E606G	possibly damaging	Het
Rnf216	A	G	5: 143,075,759 (GRCm38)	Y589H	probably benign	Het
Scara3	A	G	14: 65,931,331 (GRCm38)	I279T	possibly damaging	Het
Sdk2	T	A	11: 113,867,967 (GRCm38)	Y477F	possibly damaging	Het
Secisbp2l	T	C	2: 125,758,171 (GRCm38)	K415E	probably benign	Het
Stag1	C	T	9: 100,888,328 (GRCm38)	T639I	probably benign	Het
Sv2b	A	T	7: 75,136,383 (GRCm38)	F430I	probably benign	Het
Tenm2	C	T	11: 36,139,743 (GRCm38)	C743Y	probably damaging	Het
Tmem132c	T	C	5: 127,554,632 (GRCm38)	S652P	probably damaging	Het
Togaram1	A	G	12: 64,992,617 (GRCm38)	D1155G	possibly damaging	Het
Traip	T	C	9: 107,961,544 (GRCm38)	I169T	probably benign	Het
Trmt9b	A	C	8: 36,512,155 (GRCm38)	N304T	probably benign	Het
Usp45	T	G	4: 21,816,892 (GRCm38)	M374R	possibly damaging	Het
Vmn2r81	A	T	10: 79,268,332 (GRCm38)	H263L	probably benign	Het
Wdr95	T	C	5: 149,581,846 (GRCm38)	V364A	probably damaging	Het
Zfp128	G	A	7: 12,890,478 (GRCm38)	D258N	probably damaging	Het
Zfp335	G	A	2: 164,909,418 (GRCm38)	T76I	probably benign	Het
Zfp688	C	A	7: 127,419,311 (GRCm38)	C214F	probably damaging	Het
Zfp760	T	C	17: 21,722,674 (GRCm38)	S277P	probably 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
R3916:Tet2	UTSW	3	133,486,055 (GRCm38)	missense	possibly damaging	0.53
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
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'- CTGTGCCCCATCAGGTATTG -3'
(R):5'- AGGCAAAGCTCGAAGTTCCC -3'

Sequencing Primer
(F):5'- GCCCCATCAGGTATTGGCTATG -3'
(R):5'- GCTCGAAGTTCCCTAAAGATTCC -3'

Posted On

2019-10-17