Incidental Mutation 'R1937:Tet2'
ID 213514
Institutional Source Beutler Lab
Gene Symbol Tet2
Ensembl Gene ENSMUSG00000040943
Gene Name tet methylcytosine dioxygenase 2
Synonyms E130014J05Rik, Ayu17-449
MMRRC Submission 039955-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1937 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 133169438-133250882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133194399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 12 (T12A)
Ref Sequence ENSEMBL: ENSMUSP00000096203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098603] [ENSMUST00000196398] [ENSMUST00000197118]
AlphaFold Q4JK59
Predicted Effect possibly damaging
Transcript: ENSMUST00000098603
AA Change: T12A

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: T12A

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 possibly damaging
Transcript: ENSMUST00000196398
AA Change: T12A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: T12A

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 possibly damaging
Transcript: ENSMUST00000197118
AA Change: T12A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.5%
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik C A 5: 48,531,777 (GRCm39) T35K probably benign Het
Abhd14a A G 9: 106,317,446 (GRCm39) probably benign Het
Abhd8 A G 8: 71,914,506 (GRCm39) F41L possibly damaging Het
Ace2 A T X: 162,939,524 (GRCm39) M123L possibly damaging Het
Actr5 T C 2: 158,477,949 (GRCm39) Y440H possibly damaging Het
Akr1c6 T A 13: 4,496,383 (GRCm39) N81K probably benign Het
Aqp11 T A 7: 97,386,725 (GRCm39) N157I possibly damaging Het
Arhgap10 T C 8: 78,071,282 (GRCm39) E568G probably damaging Het
Asb7 T A 7: 66,329,001 (GRCm39) Q13L probably benign Het
Atf7ip C A 6: 136,537,778 (GRCm39) A345E probably benign Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Bpifb4 A T 2: 153,785,996 (GRCm39) I259F probably damaging Het
Cand1 A T 10: 119,038,925 (GRCm39) D1218E probably damaging Het
Capg A G 6: 72,535,236 (GRCm39) probably null Het
Cep290 C T 10: 100,333,815 (GRCm39) T289M possibly damaging Het
Cfap69 T C 5: 5,643,818 (GRCm39) Y548C probably damaging Het
Cfap97d1 A T 11: 101,877,989 (GRCm39) H17L probably damaging Het
Cimip2b T A 4: 43,427,586 (GRCm39) K220N probably damaging Het
Clock A G 5: 76,377,340 (GRCm39) L652P probably damaging Het
Col3a1 C T 1: 45,373,453 (GRCm39) probably benign Het
Coro7 T C 16: 4,446,596 (GRCm39) E843G probably benign Het
Crebrf T C 17: 26,961,442 (GRCm39) S188P probably damaging Het
Crppa G A 12: 36,440,367 (GRCm39) V92I probably benign Het
Cul1 T C 6: 47,485,289 (GRCm39) F307L probably benign Het
Cyb561d2 G A 9: 107,417,515 (GRCm39) R79W probably damaging Het
Cyp3a59 T C 5: 146,031,187 (GRCm39) S117P possibly damaging Het
Ddias A G 7: 92,507,830 (GRCm39) I695T probably benign Het
Dhx29 G A 13: 113,101,864 (GRCm39) G1311D probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Ece2 T A 16: 20,436,616 (GRCm39) V146E probably damaging Het
Eml2 A G 7: 18,937,889 (GRCm39) K586E possibly damaging Het
Eps8l3 A G 3: 107,791,708 (GRCm39) E316G probably benign Het
Fam135b A T 15: 71,493,863 (GRCm39) L22H probably damaging Het
Focad T A 4: 88,319,318 (GRCm39) M1K probably null Het
Fryl A G 5: 73,290,710 (GRCm39) S65P probably damaging Het
Gm14190 C T 11: 99,581,556 (GRCm39) C4Y unknown Het
H2-T5 T A 17: 36,478,899 (GRCm39) T117S probably damaging Het
Ift74 T A 4: 94,550,883 (GRCm39) M345K probably benign Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Kcng1 T C 2: 168,104,941 (GRCm39) T302A probably benign Het
Kif20b T C 19: 34,930,278 (GRCm39) V1221A possibly damaging Het
Kif23 A T 9: 61,853,892 (GRCm39) probably null Het
Lpxn T G 19: 12,802,274 (GRCm39) S200A probably benign Het
Meiob A G 17: 25,037,305 (GRCm39) H61R probably benign Het
Mfhas1 C T 8: 36,056,799 (GRCm39) L425F probably damaging Het
Myo3a A T 2: 22,401,126 (GRCm39) S632C probably damaging Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nbeal1 T A 1: 60,307,100 (GRCm39) Y374* probably null Het
Notch3 T C 17: 32,372,826 (GRCm39) S582G probably benign Het
Nphs1 A T 7: 30,173,798 (GRCm39) Q985L probably damaging Het
Oas1c T A 5: 120,941,049 (GRCm39) H248L probably benign Het
Or5c1 A T 2: 37,221,896 (GRCm39) N46Y probably damaging Het
Or5g26 T C 2: 85,494,341 (GRCm39) I146V probably benign Het
Or5h25 A T 16: 58,930,157 (GRCm39) M272K probably benign Het
Or8g35 A G 9: 39,381,333 (GRCm39) S230P possibly damaging Het
Pamr1 A T 2: 102,472,617 (GRCm39) I639F possibly damaging Het
Panx1 G T 9: 14,918,980 (GRCm39) T293K possibly damaging Het
Papss1 G T 3: 131,305,632 (GRCm39) V226F probably benign Het
Pax1 G T 2: 147,209,809 (GRCm39) G301V possibly damaging Het
Pdlim5 C A 3: 141,950,742 (GRCm39) R557L possibly damaging Het
Pdyn C A 2: 129,531,729 (GRCm39) M20I probably benign Het
Pelp1 G A 11: 70,284,541 (GRCm39) probably null Het
Pkd2 T C 5: 104,626,790 (GRCm39) V324A probably damaging Het
Pkdrej A G 15: 85,703,368 (GRCm39) I856T probably benign Het
Polr1a T C 6: 71,913,536 (GRCm39) probably null Het
Pot1a A T 6: 25,753,323 (GRCm39) D404E probably benign Het
Ppp2r2a A T 14: 67,253,878 (GRCm39) I430N possibly damaging Het
Prob1 C T 18: 35,787,279 (GRCm39) R325Q possibly damaging Het
Prrc2a T C 17: 35,376,884 (GRCm39) D742G probably damaging Het
Psmc1 C T 12: 100,081,102 (GRCm39) P54S probably benign Het
Rab22a A G 2: 173,530,004 (GRCm39) T61A probably damaging Het
Rims1 T A 1: 22,358,754 (GRCm39) K184N probably damaging Het
Rnf213 G A 11: 119,322,511 (GRCm39) R1376H probably damaging Het
Ryr2 T C 13: 11,683,848 (GRCm39) E3072G probably damaging Het
Serpina1b T C 12: 103,698,420 (GRCm39) K143R probably benign Het
Slc22a15 T G 3: 101,787,505 (GRCm39) probably null Het
Slc25a14 G A X: 47,740,840 (GRCm39) V210I probably benign Het
Slc25a48 A C 13: 56,596,811 (GRCm39) T31P probably damaging Het
Slc9a3 C T 13: 74,314,175 (GRCm39) probably null Het
Slx4 T C 16: 3,805,030 (GRCm39) *105W probably null Het
Smc6 A G 12: 11,349,399 (GRCm39) N794S probably benign Het
Spata18 G A 5: 73,834,307 (GRCm39) R387Q probably damaging Het
Sphkap C A 1: 83,245,162 (GRCm39) E1486* probably null Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
St8sia1 C T 6: 142,909,398 (GRCm39) A33T probably damaging Het
Tmem144 G T 3: 79,732,611 (GRCm39) S222R probably damaging Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Top1 A T 2: 160,512,042 (GRCm39) K27N unknown Het
Tox2 A G 2: 163,067,476 (GRCm39) H30R probably benign Het
Tra2b T C 16: 22,065,993 (GRCm39) probably benign Het
Trio A T 15: 27,833,142 (GRCm39) V1165E probably damaging Het
Troap T A 15: 98,975,269 (GRCm39) S145R probably damaging Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttc6 C T 12: 57,663,109 (GRCm39) P302S probably benign Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Ugt2b35 G T 5: 87,149,141 (GRCm39) V131F probably damaging Het
Utp25 A T 1: 192,804,401 (GRCm39) D200E probably damaging Het
Vmn1r167 G A 7: 23,204,452 (GRCm39) T188I probably benign Het
Vmn1r46 G T 6: 89,953,716 (GRCm39) M188I probably benign Het
Vmn2r115 T A 17: 23,578,388 (GRCm39) N620K probably damaging Het
Vmn2r66 A G 7: 84,644,344 (GRCm39) S689P probably damaging Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zbtb16 T C 9: 48,571,078 (GRCm39) S563G probably benign Het
Zfp319 T C 8: 96,055,199 (GRCm39) T335A probably damaging Het
Zfp418 A G 7: 7,185,401 (GRCm39) R455G possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- AATACCCTCTGTCTTCATGTGGAC -3'
(R):5'- CTCCATGCAGGGAAGACAAG -3'

Sequencing Primer
(F):5'- ATGTGGACTCTCATGACTGC -3'
(R):5'- CTCCATGCAGGGAAGACAAGAGTAG -3'
Posted On 2014-07-14