Incidental Mutation 'R4648:Tet2'
ID 350465
Institutional Source Beutler Lab
Gene Symbol Tet2
Ensembl Gene ENSMUSG00000040943
Gene Name tet methylcytosine dioxygenase 2
Synonyms E130014J05Rik, Ayu17-449
MMRRC Submission 041909-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4648 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 133169438-133250882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133193843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 197 (M197K)
Ref Sequence ENSEMBL: ENSMUSP00000143029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098603] [ENSMUST00000196398] [ENSMUST00000197118]
AlphaFold Q4JK59
Predicted Effect probably benign
Transcript: ENSMUST00000098603
AA Change: M197K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: M197K

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: M197K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: M197K

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 probably benign
Transcript: ENSMUST00000197118
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700031F05Rik G T X: 101,904,515 (GRCm39) N132K possibly damaging Het
2010315B03Rik T A 9: 124,056,228 (GRCm39) Y232F probably benign Het
2310079G19Rik T C 16: 88,424,255 (GRCm39) S79G probably benign Het
4930568D16Rik T A 2: 35,244,458 (GRCm39) Y298F probably damaging Het
Alpk2 A G 18: 65,482,953 (GRCm39) F352L probably damaging Het
Angpt1 T A 15: 42,539,580 (GRCm39) Y93F probably benign Het
Ankrd33b T C 15: 31,325,170 (GRCm39) *129W probably null Het
Atp5pf T C 16: 84,625,343 (GRCm39) M87V probably benign Het
Atp8b3 A G 10: 80,361,457 (GRCm39) S822P possibly damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bbs2 A T 8: 94,807,507 (GRCm39) V429E probably damaging Het
Bccip C T 7: 133,316,628 (GRCm39) L83F probably damaging Het
Brd9 G A 13: 74,088,895 (GRCm39) V198I probably benign Het
C1galt1c1 A T X: 37,720,349 (GRCm39) S216T probably benign Het
Calhm1 A G 19: 47,132,240 (GRCm39) L125P probably damaging Het
Ccdc110 A T 8: 46,395,705 (GRCm39) Q532L possibly damaging Het
Cdh19 G A 1: 110,852,907 (GRCm39) L343F probably benign Het
Cep350 A G 1: 155,778,344 (GRCm39) S1653P possibly damaging Het
Cmtm4 A G 8: 105,082,952 (GRCm39) I135T possibly damaging Het
Cmya5 A G 13: 93,230,336 (GRCm39) L1584P possibly damaging Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
Crp A G 1: 172,525,704 (GRCm39) M1V probably null Het
Csmd1 G A 8: 16,048,788 (GRCm39) Q2305* probably null Het
Cyp2c38 T A 19: 39,449,132 (GRCm39) I74F probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dcaf1 A T 9: 106,742,876 (GRCm39) probably benign Het
Dhx16 C G 17: 36,196,527 (GRCm39) A565G probably benign Het
Dock7 C A 4: 98,857,881 (GRCm39) E1448* probably null Het
Dpf2 C T 19: 5,957,109 (GRCm39) R38H probably damaging Het
E030030I06Rik T A 10: 22,024,744 (GRCm39) R56S unknown Het
Etnk1 A G 6: 143,141,000 (GRCm39) Y248C probably damaging Het
Ext1 A G 15: 52,953,383 (GRCm39) S494P possibly damaging Het
Gk2 T C 5: 97,603,579 (GRCm39) S420G probably benign Het
Gm26596 T C 10: 112,765,064 (GRCm39) probably benign Het
Gm5414 G T 15: 101,536,543 (GRCm39) N27K possibly damaging Het
Gskip A G 12: 105,664,988 (GRCm39) D9G probably benign Het
H2-K2 T A 17: 34,194,989 (GRCm39) noncoding transcript Het
Hk1 T G 10: 62,140,558 (GRCm39) S105R probably benign Het
Hmg20b T A 10: 81,184,416 (GRCm39) Q129L probably damaging Het
Idnk A G 13: 58,310,683 (GRCm39) D67G probably benign Het
Igfbp5 G T 1: 72,903,222 (GRCm39) H118N probably benign Het
Irf4 A T 13: 30,947,580 (GRCm39) Y427F probably benign Het
Khdc3 A G 9: 73,009,868 (GRCm39) E26G possibly damaging Het
Kif7 T C 7: 79,358,939 (GRCm39) D512G probably damaging Het
Lamb3 T A 1: 193,013,665 (GRCm39) I513N probably damaging Het
Lipo3 A G 19: 33,760,860 (GRCm39) L174P probably damaging Het
Lnx1 C T 5: 74,771,457 (GRCm39) V350I probably benign Het
Map3k21 A G 8: 126,668,850 (GRCm39) D812G probably benign Het
Mast2 G T 4: 116,172,036 (GRCm39) Y637* probably null Het
Matn2 T C 15: 34,428,679 (GRCm39) I681T probably damaging Het
Med18 A T 4: 132,190,274 (GRCm39) V37D possibly damaging Het
Mip T A 10: 128,062,922 (GRCm39) H122Q probably benign Het
Mmp13 A T 9: 7,274,233 (GRCm39) D180V probably damaging Het
Mpg C A 11: 32,180,034 (GRCm39) C187* probably null Het
Mtmr14 A G 6: 113,237,567 (GRCm39) E256G probably benign Het
Myo7b C T 18: 32,100,178 (GRCm39) probably null Het
Nhsl3 G T 4: 129,115,733 (GRCm39) T977K probably benign Het
Nmt1 T A 11: 102,954,743 (GRCm39) V425D probably damaging Het
Nynrin T A 14: 56,110,351 (GRCm39) Y1819* probably null Het
Or10ak16 A G 4: 118,751,147 (GRCm39) N289S possibly damaging Het
Or4c107 T A 2: 88,789,556 (GRCm39) F249I probably damaging Het
Or5i1 T C 2: 87,613,565 (GRCm39) V227A possibly damaging Het
Otof T C 5: 30,540,914 (GRCm39) E875G possibly damaging Het
Paqr3 T A 5: 97,256,069 (GRCm39) R102* probably null Het
Phc1 T C 6: 122,298,872 (GRCm39) I699V possibly damaging Het
Prkdc T G 16: 15,634,638 (GRCm39) D3594E probably benign Het
Pstpip1 A T 9: 56,032,502 (GRCm39) D246V probably damaging Het
Rbm46 A T 3: 82,771,765 (GRCm39) D283E probably benign Het
Ror2 A T 13: 53,439,536 (GRCm39) C9* probably null Het
Setd1b C T 5: 123,286,175 (GRCm39) A407V unknown Het
Slc26a4 T G 12: 31,590,525 (GRCm39) D376A possibly damaging Het
Smarcad1 A G 6: 65,044,073 (GRCm39) E215G probably benign Het
Spag16 G A 1: 69,866,194 (GRCm39) R11Q probably null Het
Sult1d1 T A 5: 87,713,954 (GRCm39) Q30L probably benign Het
Tbc1d5 A G 17: 51,043,251 (GRCm39) C746R probably benign Het
Tdh A G 14: 63,731,205 (GRCm39) L323P possibly damaging Het
Tnn T C 1: 159,973,612 (GRCm39) M252V probably benign Het
Trdn G T 10: 33,071,977 (GRCm39) E215* probably null Het
Trem1 G A 17: 48,551,590 (GRCm39) V84I probably benign Het
Tspan5 T C 3: 138,604,076 (GRCm39) F154L probably damaging Het
Usp45 A G 4: 21,825,044 (GRCm39) R647G probably benign Het
Usp50 T A 2: 126,619,953 (GRCm39) I120F probably damaging Het
Vil1 T C 1: 74,471,457 (GRCm39) M746T probably benign Het
Washc4 T A 10: 83,410,407 (GRCm39) M665K possibly damaging Het
Zfp750 T C 11: 121,402,706 (GRCm39) T681A probably benign Het
Other mutations in Tet2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGGTCTGGGAGAAATTGATCTG -3'
(R):5'- AGCCGTCAGCCAAATGTCTC -3'

Sequencing Primer
(F):5'- ATCTGCGCTGAGGTAAGC -3'
(R):5'- GCCAAATGTCTCCGGACTAAGTG -3'
Posted On 2015-10-08