Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03371:Tet2'

420279

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tet2

Ensembl Gene

ENSMUSG00000040943

Gene Name

tet methylcytosine dioxygenase 2

Synonyms

E130014J05Rik, Ayu17-449

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03371

Quality Score

Status

Chromosome

Chromosomal Location

133169438-133250882 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 133173312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1650 (H1650L)

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: H1642L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: H1642L

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: H1650L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: H1650L

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
AA Change: H149L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199381

Coding Region Coverage

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agk	C	T	6: 40,371,576 (GRCm39)	R358C	probably benign	Het
Ahnak	G	T	19: 8,981,592 (GRCm39)	V959F	possibly damaging	Het
Aoc1	C	T	6: 48,883,380 (GRCm39)	R419C	probably benign	Het
Brf2	T	C	8: 27,615,872 (GRCm39)	D171G	probably benign	Het
Cnot1	T	C	8: 96,501,344 (GRCm39)	I75V	possibly damaging	Het
D430041D05Rik	A	G	2: 104,078,719 (GRCm39)	V1199A	probably damaging	Het
Dpp9	G	A	17: 56,494,377 (GRCm39)	H861Y	probably benign	Het
Eddm3b	G	A	14: 51,354,422 (GRCm39)	D137N	probably damaging	Het
Erich3	A	T	3: 154,433,114 (GRCm39)	I363F	probably damaging	Het
F13b	T	A	1: 139,434,674 (GRCm39)	C147S	probably damaging	Het
Fam186b	T	C	15: 99,178,258 (GRCm39)	E356G	probably benign	Het
Fat2	T	A	11: 55,201,990 (GRCm39)	R361S	probably benign	Het
Fat4	A	T	3: 39,037,336 (GRCm39)	I3663F	possibly damaging	Het
Haus3	C	A	5: 34,323,687 (GRCm39)	E308*	probably null	Het
Ifna11	A	G	4: 88,738,412 (GRCm39)	K73E	probably benign	Het
Itga10	A	G	3: 96,562,104 (GRCm39)	K664E	possibly damaging	Het
L3mbtl4	G	A	17: 68,768,563 (GRCm39)	V224M	probably damaging	Het
Mcf2l	C	A	8: 13,051,298 (GRCm39)	A378D	probably damaging	Het
Mixl1	T	C	1: 180,522,191 (GRCm39)	N230S	probably benign	Het
Ncbp1	T	A	4: 46,171,991 (GRCm39)	C786*	probably null	Het
Nup153	C	T	13: 46,836,628 (GRCm39)	S1327N	probably benign	Het
Or4c12b	A	T	2: 89,647,509 (GRCm39)	T280S	possibly damaging	Het
Or8k18	A	T	2: 86,085,935 (GRCm39)	I34N	possibly damaging	Het
Osr2	C	A	15: 35,301,000 (GRCm39)	Y185*	probably null	Het
Ppp1r3b	T	C	8: 35,851,403 (GRCm39)	F81L	possibly damaging	Het
Ppp3r2	T	A	4: 49,681,630 (GRCm39)	I107F	probably damaging	Het
Rin2	G	A	2: 145,727,846 (GRCm39)		probably benign	Het
Rpap1	A	T	2: 119,605,538 (GRCm39)		probably benign	Het
Slc12a4	A	G	8: 106,677,137 (GRCm39)	Y466H	probably null	Het
Slc25a40	C	T	5: 8,477,442 (GRCm39)	P9L	probably benign	Het
Slc27a1	T	C	8: 72,038,052 (GRCm39)	S567P	probably benign	Het
Sox8	G	A	17: 25,786,414 (GRCm39)	R430C	probably damaging	Het
Tacc2	T	C	7: 130,227,791 (GRCm39)	V1492A	possibly damaging	Het
Taf5l	A	G	8: 124,724,725 (GRCm39)	S365P	possibly damaging	Het
Tmem117	G	A	15: 94,909,274 (GRCm39)	R229H	probably damaging	Het
Ttc17	A	G	2: 94,216,450 (GRCm39)	L79P	probably damaging	Het
Usp54	A	T	14: 20,639,436 (GRCm39)		probably benign	Het
Zfp455	T	A	13: 67,355,066 (GRCm39)	C111*	probably null	Het
Zmym4	A	C	4: 126,808,881 (GRCm39)	C389G	possibly 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
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
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

Posted On

2016-08-02