Incidental Mutation 'R7184:Tet2'
ID 559163
Institutional Source Beutler Lab
Gene Symbol Tet2
Ensembl Gene ENSMUSG00000040943
Gene Name tet methylcytosine dioxygenase 2
Synonyms E130014J05Rik, Ayu17-449
MMRRC Submission 045236-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 133169438-133250882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133179391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1258 (Y1258C)
Ref Sequence ENSEMBL: ENSMUSP00000143029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098603] [ENSMUST00000196398]
AlphaFold Q4JK59
Predicted Effect probably damaging
Transcript: ENSMUST00000098603
AA Change: Y1250C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: Y1250C

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 damaging
Transcript: ENSMUST00000196398
AA Change: Y1258C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: Y1258C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) probably null 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
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
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'- CCCCAGAATTTAGGAGTGGAGG -3'
(R):5'- AGATAGCACATGGTAGATAGCACATAC -3'

Sequencing Primer
(F):5'- TTTAGGAGTGGAGGCCAGCC -3'
(R):5'- CATTTTTGTACAGGAAGAGAGA -3'
Posted On 2019-06-26