Incidental Mutation 'R0600:Tet2'
ID 55280
Institutional Source Beutler Lab
Gene Symbol Tet2
Ensembl Gene ENSMUSG00000040943
Gene Name tet methylcytosine dioxygenase 2
Synonyms E130014J05Rik, Ayu17-449
MMRRC Submission 038789-MU
Accession Numbers

Ncbi RefSeq: NM_001040400.2; MGI:2443298

Essential gene? Essential (E-score: 1.000) question?
Stock # R0600 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 133463679-133545139 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133467602 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1633 (M1633T)
Ref Sequence ENSEMBL: ENSMUSP00000143029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098603] [ENSMUST00000196398]
AlphaFold Q4JK59
Predicted Effect probably benign
Transcript: ENSMUST00000098603
AA Change: M1625T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: M1625T

DomainStartEndE-ValueType
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: M1633T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: M1633T

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000198974
AA Change: M132T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199381
Meta Mutation Damage Score 0.0777 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.5%
Validation Efficiency 99% (95/96)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A G 7: 131,357,660 (GRCm38) S150P probably damaging Het
4932431P20Rik T A 7: 29,533,265 (GRCm38) noncoding transcript Het
5530400C23Rik T G 6: 133,293,211 (GRCm38) probably benign Het
Ahctf1 A C 1: 179,763,468 (GRCm38) probably null Het
Ang5 T C 14: 43,962,749 (GRCm38) V90A probably benign Het
Ano9 C T 7: 141,104,710 (GRCm38) G442R probably damaging Het
Apaf1 G A 10: 91,060,052 (GRCm38) T386I probably damaging Het
Apob C A 12: 8,006,440 (GRCm38) H1608N probably damaging Het
Arhgap12 C A 18: 6,064,433 (GRCm38) probably benign Het
Asxl1 T A 2: 153,399,904 (GRCm38) D791E probably benign Het
Avl9 T C 6: 56,736,906 (GRCm38) V383A probably benign Het
Btbd1 A C 7: 81,816,006 (GRCm38) D197E probably damaging Het
C87499 A T 4: 88,629,299 (GRCm38) I45K probably damaging Het
Camta2 T C 11: 70,673,959 (GRCm38) I938V possibly damaging Het
Cdca7 C A 2: 72,483,467 (GRCm38) A200D possibly damaging Het
Cep104 A T 4: 154,006,792 (GRCm38) Y923F possibly damaging Het
Cep135 G C 5: 76,621,305 (GRCm38) V601L probably benign Het
Ces2b G A 8: 104,835,910 (GRCm38) G291S probably benign Het
Col6a6 C T 9: 105,761,440 (GRCm38) G1400D probably damaging Het
Cyth2 T C 7: 45,813,117 (GRCm38) E1G probably damaging Het
Dand5 A T 8: 84,816,292 (GRCm38) L185Q probably damaging Het
Dck T C 5: 88,781,221 (GRCm38) V253A probably benign Het
Ddx20 A G 3: 105,679,080 (GRCm38) S650P probably damaging Het
Dicer1 G A 12: 104,706,864 (GRCm38) P799S probably damaging Het
Dst C T 1: 34,189,119 (GRCm38) P1606L probably damaging Het
Eya2 G A 2: 165,769,237 (GRCm38) C477Y probably damaging Het
Fam208b A T 13: 3,576,054 (GRCm38) F1299I probably benign Het
Fip1l1 T A 5: 74,595,842 (GRCm38) N498K probably damaging Het
Flt4 C T 11: 49,636,339 (GRCm38) probably benign Het
Galntl6 T C 8: 57,837,183 (GRCm38) probably null Het
Gda A T 19: 21,434,303 (GRCm38) F44I possibly damaging Het
Gli2 G A 1: 118,840,389 (GRCm38) R703C probably damaging Het
Gm14085 A T 2: 122,514,398 (GRCm38) I162F probably damaging Het
Golgb1 T A 16: 36,916,271 (GRCm38) L1960Q probably damaging Het
Gramd1b T C 9: 40,308,355 (GRCm38) D341G probably damaging Het
Grid2 G T 6: 63,503,435 (GRCm38) A78S probably benign Het
Hao2 A T 3: 98,883,560 (GRCm38) probably benign Het
Hook3 A G 8: 26,118,986 (GRCm38) V10A probably benign Het
Kif20a A G 18: 34,629,209 (GRCm38) E425G probably damaging Het
Lrp1 T C 10: 127,567,383 (GRCm38) D2107G probably benign Het
Lrriq3 T C 3: 155,187,736 (GRCm38) I358T possibly damaging Het
Mad2l2 A G 4: 148,140,924 (GRCm38) D17G possibly damaging Het
Mastl G T 2: 23,133,346 (GRCm38) T455K probably benign Het
Mkln1 G T 6: 31,432,927 (GRCm38) probably benign Het
Mmp1b A T 9: 7,387,947 (GRCm38) Y16N possibly damaging Het
Mmp24 C T 2: 155,792,597 (GRCm38) A79V probably benign Het
Mrps35 T A 6: 147,070,734 (GRCm38) C292S possibly damaging Het
Myom1 T C 17: 71,120,648 (GRCm38) F1435L possibly damaging Het
Nars2 C T 7: 97,039,923 (GRCm38) H351Y probably damaging Het
Nat2 A T 8: 67,501,267 (GRCm38) I10F probably damaging Het
Nfix G A 8: 84,726,526 (GRCm38) R300C probably damaging Het
Olfm5 A T 7: 104,153,869 (GRCm38) Y462* probably null Het
Olfr1228 C A 2: 89,249,398 (GRCm38) E87* probably null Het
Olfr1339 C T 4: 118,734,789 (GRCm38) H87Y probably damaging Het
Olfr1508 T C 14: 52,463,509 (GRCm38) I167V probably benign Het
Olfr322 C A 11: 58,666,160 (GRCm38) F200L probably damaging Het
Olfr340 C A 2: 36,452,648 (GRCm38) A21E probably benign Het
Olfr44 A T 9: 39,484,988 (GRCm38) F85L probably benign Het
Olfr495 T A 7: 108,395,231 (GRCm38) I37N probably damaging Het
Olfr855 T C 9: 19,585,304 (GRCm38) S256P possibly damaging Het
Olfr926 T A 9: 38,877,815 (GRCm38) I213N probably damaging Het
Otog A T 7: 46,251,395 (GRCm38) probably benign Het
Pdcd2l A T 7: 34,192,807 (GRCm38) D212E possibly damaging Het
Pex5 T C 6: 124,404,637 (GRCm38) N213S probably benign Het
Pkn3 C T 2: 30,081,134 (GRCm38) P238S probably benign Het
Prl2b1 A T 13: 27,390,740 (GRCm38) probably null Het
Ptprb A T 10: 116,368,807 (GRCm38) I1849L possibly damaging Het
Rasal3 G T 17: 32,393,526 (GRCm38) S787Y probably damaging Het
Scn2a T A 2: 65,701,833 (GRCm38) D596E possibly damaging Het
Sdhd A T 9: 50,603,764 (GRCm38) V9D possibly damaging Het
Serinc5 T C 13: 92,708,057 (GRCm38) S436P probably damaging Het
Slc27a1 C T 8: 71,584,164 (GRCm38) P348L probably damaging Het
Smg1 G A 7: 118,160,383 (GRCm38) probably benign Het
Sorl1 A T 9: 42,043,900 (GRCm38) probably benign Het
Sprtn T A 8: 124,900,218 (GRCm38) H112Q probably damaging Het
Tmem68 A T 4: 3,569,667 (GRCm38) C8S probably damaging Het
Tnrc6a T A 7: 123,171,816 (GRCm38) I943N probably benign Het
Trib2 A T 12: 15,794,068 (GRCm38) V191D probably damaging Het
Tsc22d4 T C 5: 137,762,655 (GRCm38) S113P probably damaging Het
Ttc21b T C 2: 66,239,570 (GRCm38) R250G probably damaging Het
Ubr2 T C 17: 46,967,248 (GRCm38) Y721C probably damaging Het
Ubtfl1 A T 9: 18,409,364 (GRCm38) I63F probably damaging Het
Ush1c G A 7: 46,224,908 (GRCm38) P171S probably benign Het
Utp20 A T 10: 88,767,461 (GRCm38) N1843K probably damaging Het
Vangl1 A G 3: 102,166,937 (GRCm38) Y285H probably damaging Het
Virma A G 4: 11,498,769 (GRCm38) D70G probably damaging Het
Vmn2r102 T C 17: 19,678,015 (GRCm38) F431L probably benign Het
Wdr17 A G 8: 54,661,495 (GRCm38) I662T probably damaging Het
Wisp2 G A 2: 163,825,313 (GRCm38) C78Y probably damaging Het
Zfp160 G A 17: 21,027,006 (GRCm38) R606H probably benign Het
Zfp369 C T 13: 65,296,434 (GRCm38) R464C probably damaging Het
Other mutations in Tet2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGCATGAACCTCACACTTTGCAC -3'
(R):5'- CCAGTGGACAATGGTTCCCCTTTC -3'

Sequencing Primer
(F):5'- GATCCTGAAAGTTGTGCTCAC -3'
(R):5'- ACAATGGTTCCCCTTTCTTAGGTTC -3'
Posted On 2013-07-11