Incidental Mutation 'R7459:Tet2'
ID 578299
Institutional Source Beutler Lab
Gene Symbol Tet2
Ensembl Gene ENSMUSG00000040943
Gene Name tet methylcytosine dioxygenase 2
Synonyms E130014J05Rik, Ayu17-449
MMRRC Submission 045533-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 133169438-133250882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133186050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1129 (R1129Q)
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: R1129Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: R1129Q

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: R1129Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: R1129Q

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: ENSMUST00000198974
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,756,933 (GRCm39) V730E probably damaging Het
Agbl1 G A 7: 76,069,814 (GRCm39) D449N not run Het
Agr2 A T 12: 36,047,452 (GRCm39) E96V probably benign Het
Atp1a2 A C 1: 172,114,862 (GRCm39) S308A probably benign Het
Birc7 T C 2: 180,571,150 (GRCm39) S71P possibly damaging Het
Brme1 T G 8: 84,893,981 (GRCm39) S383A probably benign Het
Camk2g T C 14: 20,829,275 (GRCm39) I73V probably damaging Het
Carf C A 1: 60,167,198 (GRCm39) T177K possibly damaging Het
Ccdc191 C T 16: 43,767,820 (GRCm39) Q665* probably null Het
Cd79a A T 7: 24,598,567 (GRCm39) T39S possibly damaging Het
Ces5a C A 8: 94,262,369 (GRCm39) probably benign Het
Dkk2 C A 3: 131,880,790 (GRCm39) T145N probably benign Het
Dot1l C T 10: 80,609,007 (GRCm39) A188V probably damaging Het
Egfr T A 11: 16,846,967 (GRCm39) V788D probably damaging Het
Esyt3 T A 9: 99,240,117 (GRCm39) H109L probably benign Het
Fam234b C T 6: 135,188,899 (GRCm39) T168I probably benign Het
Fan1 G T 7: 63,998,714 (GRCm39) S936Y probably damaging Het
Fat2 T C 11: 55,194,745 (GRCm39) E1098G probably damaging Het
Fcgbp A G 7: 27,806,710 (GRCm39) D2226G possibly damaging Het
Flacc1 T G 1: 58,730,911 (GRCm39) E48D possibly damaging Het
Flvcr2 T C 12: 85,793,831 (GRCm39) V69A probably benign Het
Foxb2 T A 19: 16,850,436 (GRCm39) H190L unknown Het
Fut4 C T 9: 14,662,602 (GRCm39) V231M possibly damaging Het
Gtf2a1 G A 12: 91,542,426 (GRCm39) A91V probably benign Het
Hip1 A G 5: 135,443,151 (GRCm39) S961P probably damaging Het
Hsf2bp C T 17: 32,165,708 (GRCm39) V296M probably benign Het
Hspbp1 G T 7: 4,687,577 (GRCm39) H11Q probably benign Het
Ighv1-84 C T 12: 115,944,432 (GRCm39) E81K probably benign Het
Isg20l2 T C 3: 87,839,485 (GRCm39) L232P possibly damaging Het
Isx A G 8: 75,619,392 (GRCm39) Y181C probably benign Het
Kif9 A G 9: 110,348,109 (GRCm39) Y644C probably damaging Het
Lin7c T A 2: 109,727,682 (GRCm39) V177D probably benign Het
Lpin3 T C 2: 160,739,220 (GRCm39) S343P probably benign Het
Mat1a A T 14: 40,842,141 (GRCm39) Q246L probably benign Het
Mlkl T C 8: 112,060,162 (GRCm39) I75V probably benign Het
Ndufa7 T A 17: 34,057,140 (GRCm39) S107T probably damaging Het
Niban3 T A 8: 72,057,671 (GRCm39) C516S possibly damaging Het
Nip7 T A 8: 107,783,968 (GRCm39) C69* probably null Het
Nipa2 A T 7: 55,583,089 (GRCm39) W219R probably damaging Het
Oas2 A C 5: 120,887,775 (GRCm39) S22A unknown Het
Obscn A G 11: 59,022,483 (GRCm39) V754A probably benign Het
Or4a76 G A 2: 89,461,012 (GRCm39) P77S probably damaging Het
Osbpl1a C T 18: 13,066,642 (GRCm39) C39Y probably damaging Het
Pcdhb16 A T 18: 37,612,606 (GRCm39) Y522F probably benign Het
Pced1a T G 2: 130,261,744 (GRCm39) D303A possibly damaging Het
Peli1 T A 11: 21,098,190 (GRCm39) Y308* probably null Het
Pfas T A 11: 68,879,481 (GRCm39) R243W Het
Pik3r5 C A 11: 68,383,416 (GRCm39) Q412K probably benign Het
Pkd1l1 A T 11: 8,852,428 (GRCm39) I1135N Het
Prune1 C A 3: 95,189,021 (GRCm39) probably benign Het
Ptpn4 T A 1: 119,587,564 (GRCm39) K926N probably damaging Het
Ptpre A G 7: 135,269,329 (GRCm39) N277S probably benign Het
Raver2 A T 4: 100,964,410 (GRCm39) D255V possibly damaging Het
Rgs20 A G 1: 4,980,857 (GRCm39) V187A probably benign Het
Rgs3 A G 4: 62,543,391 (GRCm39) E242G probably benign Het
Rims2 T G 15: 39,381,235 (GRCm39) S1055R probably benign Het
Rnf146 T C 10: 29,223,640 (GRCm39) D82G probably benign Het
Rpgrip1 A G 14: 52,378,016 (GRCm39) S455G probably benign Het
Samm50 T C 15: 84,080,057 (GRCm39) probably null Het
Sh3bgr A G 16: 96,007,122 (GRCm39) K31E probably benign Het
Slc39a8 T C 3: 135,592,672 (GRCm39) I449T probably damaging Het
Slc5a3 A T 16: 91,875,905 (GRCm39) Y654F probably benign Het
Spata1 T A 3: 146,181,977 (GRCm39) L264F possibly damaging Het
Spats2l A T 1: 57,838,512 (GRCm39) probably benign Het
Stard13 A C 5: 150,971,064 (GRCm39) S848A probably damaging Het
Stat2 A G 10: 128,112,434 (GRCm39) S25G possibly damaging Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tmem266 T C 9: 55,303,883 (GRCm39) L3P unknown Het
Tns3 A T 11: 8,442,793 (GRCm39) D523E probably benign Het
Trim3 A T 7: 105,267,015 (GRCm39) S455T probably damaging Het
Trim31 T C 17: 37,220,554 (GRCm39) V490A probably damaging Het
Trmt11 A C 10: 30,466,039 (GRCm39) N168K probably benign Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Ttn C A 2: 76,749,482 (GRCm39) D3856Y possibly damaging Het
Tulp2 G A 7: 45,169,227 (GRCm39) D377N probably damaging Het
Ubl7 A G 9: 57,821,875 (GRCm39) T75A probably damaging Het
Ugt2b34 T G 5: 87,049,134 (GRCm39) D297A possibly damaging Het
Usp34 A T 11: 23,314,458 (GRCm39) H800L possibly damaging Het
Utp3 C A 5: 88,703,412 (GRCm39) L314M probably damaging Het
Zer1 A G 2: 30,003,337 (GRCm39) Y27H probably 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
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
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'- ATTCAAGCCCCTCTGGAGAAC -3'
(R):5'- ACTCTATAGCTGGGCAATAAAAGAG -3'

Sequencing Primer
(F):5'- CCCCTCTGGAGAACGGGAAAG -3'
(R):5'- GGAATTGCAGTTGGTAATTTTGATCC -3'
Posted On 2019-10-07