Incidental Mutation 'R7807:Tet2'
ID 600845
Institutional Source Beutler Lab
Gene Symbol Tet2
Ensembl Gene ENSMUSG00000040943
Gene Name tet methylcytosine dioxygenase 2
Synonyms E130014J05Rik, Ayu17-449
MMRRC Submission 045862-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7807 (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 133192302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 711 (T711A)
Ref Sequence ENSEMBL: ENSMUSP00000143029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098603] [ENSMUST00000196398] [ENSMUST00000197118]
AlphaFold Q4JK59
Predicted Effect possibly damaging
Transcript: ENSMUST00000098603
AA Change: T711A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: T711A

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: T711A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: T711A

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
Meta Mutation Damage Score 0.0932 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 C A 9: 21,447,276 (GRCm39) T146K probably benign Het
Alms1 T A 6: 85,599,958 (GRCm39) S1595T possibly damaging Het
Ankrd44 A T 1: 54,831,635 (GRCm39) I56N probably damaging Het
Anln C A 9: 22,272,176 (GRCm39) V648F probably damaging Het
Arhgap29 A G 3: 121,807,981 (GRCm39) D1053G probably benign Het
Baalc T C 15: 38,797,412 (GRCm39) S68P probably benign Het
Begain T C 12: 109,004,856 (GRCm39) D52G probably damaging Het
Blmh A G 11: 76,837,040 (GRCm39) I41V probably benign Het
Bpifc T A 10: 85,812,114 (GRCm39) I365F possibly damaging Het
C2 G T 17: 35,095,347 (GRCm39) S199R possibly damaging Het
Ccbe1 T A 18: 66,199,828 (GRCm39) H298L probably damaging Het
Ccdc112 T A 18: 46,423,826 (GRCm39) K304I probably damaging Het
Ccdc15 T C 9: 37,226,678 (GRCm39) E432G probably benign Het
Cdh13 T A 8: 119,010,594 (GRCm39) M1K probably null Het
Cipc T C 12: 87,008,899 (GRCm39) S253P possibly damaging Het
Clcn1 A G 6: 42,287,282 (GRCm39) probably null Het
Clock A T 5: 76,390,982 (GRCm39) N273K probably benign Het
Cyp19a1 T C 9: 54,074,126 (GRCm39) D476G probably benign Het
Dnaaf9 T C 2: 130,552,785 (GRCm39) K1092E probably damaging Het
Dnah7b A G 1: 46,253,527 (GRCm39) I1811V probably benign Het
Fat1 C A 8: 45,495,010 (GRCm39) T4091K probably damaging Het
Gm10340 T A 14: 14,826,724 (GRCm39) N64K probably damaging Het
Hectd1 G A 12: 51,792,171 (GRCm39) R2523C probably damaging Het
Hgf A G 5: 16,782,009 (GRCm39) H244R probably damaging Het
Hgs G T 11: 120,370,760 (GRCm39) A567S probably damaging Het
Igdcc4 T C 9: 65,041,077 (GRCm39) V1036A probably benign Het
Keg1 G A 19: 12,691,998 (GRCm39) probably null Het
Klhl8 A T 5: 104,023,932 (GRCm39) L156Q probably damaging Het
Lmln T C 16: 32,927,501 (GRCm39) Y521H probably benign Het
Lrrc7 A G 3: 157,866,124 (GRCm39) S1206P probably damaging Het
Mad1l1 T A 5: 140,074,541 (GRCm39) I550F probably benign Het
Marf1 C T 16: 13,971,753 (GRCm39) W28* probably null Het
Mfsd11 T G 11: 116,754,733 (GRCm39) S215A probably benign Het
Mpped2 C A 2: 106,575,085 (GRCm39) H57N possibly damaging Het
Mslnl A G 17: 25,965,751 (GRCm39) M542V probably benign Het
Myh6 G T 14: 55,179,897 (GRCm39) H1903Q probably damaging Het
Neo1 T C 9: 58,897,777 (GRCm39) T60A probably benign Het
Npm2 T A 14: 70,889,947 (GRCm39) probably null Het
Or5b123 C A 19: 13,597,285 (GRCm39) T210K probably damaging Het
Or5d20-ps1 T C 2: 87,931,909 (GRCm39) S141G probably benign Het
Or7a39 T A 10: 78,715,043 (GRCm39) S12R probably benign Het
Pax9 A T 12: 56,743,850 (GRCm39) I166F possibly damaging Het
Pcsk9 A G 4: 106,321,092 (GRCm39) S6P possibly damaging Het
Pikfyve A G 1: 65,309,101 (GRCm39) Y1893C probably damaging Het
Pirb T C 7: 3,722,864 (GRCm39) T43A possibly damaging Het
Pou3f1 A G 4: 124,552,074 (GRCm39) D192G possibly damaging Het
Pus3 C G 9: 35,478,021 (GRCm39) R418G probably damaging Het
Rexo1 C T 10: 80,385,970 (GRCm39) V363I probably benign Het
Sdcbp A G 4: 6,393,688 (GRCm39) T269A probably damaging Het
Sele T C 1: 163,881,462 (GRCm39) V523A probably benign Het
Serpinb8 T A 1: 107,532,457 (GRCm39) M183K probably damaging Het
Sh2d4a T G 8: 68,735,033 (GRCm39) S51A probably benign Het
Siglec15 A G 18: 78,090,696 (GRCm39) S201P probably damaging Het
Slc10a5 C T 3: 10,400,529 (GRCm39) V44I probably benign Het
Slc16a13 A G 11: 70,111,388 (GRCm39) V39A probably damaging Het
Slc25a13 G A 6: 6,117,164 (GRCm39) R184W probably damaging Het
Slc35f5 T A 1: 125,512,278 (GRCm39) D359E probably damaging Het
Slc3a1 A G 17: 85,371,371 (GRCm39) E641G probably benign Het
Slf1 T C 13: 77,194,823 (GRCm39) D834G probably damaging Het
Spata31f1e A C 4: 42,793,885 (GRCm39) H82Q probably benign Het
Stim1 T C 7: 102,076,348 (GRCm39) I433T probably damaging Het
Stra6 T A 9: 58,057,444 (GRCm39) I418K probably damaging Het
Tanc2 A G 11: 105,758,480 (GRCm39) N747S probably benign Het
Trpm6 T C 19: 18,807,220 (GRCm39) I988T probably benign Het
Ttc41 T A 10: 86,612,495 (GRCm39) I1256N probably benign Het
Uba2 T C 7: 33,862,638 (GRCm39) D100G possibly damaging Het
Vmn1r43 A G 6: 89,847,219 (GRCm39) I89T probably benign Het
Vmn2r58 T A 7: 41,521,910 (GRCm39) Y62F probably benign Het
Ylpm1 C T 12: 85,060,855 (GRCm39) Q428* probably null Het
Zcrb1 T C 15: 93,289,002 (GRCm39) D88G probably damaging Het
Zmym1 A C 4: 126,941,667 (GRCm39) I907S 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
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
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'- AAGGGAGAATCTGTAAGTTGCTC -3'
(R):5'- CATTTGAGTCAACAGGCCACAG -3'

Sequencing Primer
(F):5'- AGAATCTGTAAGTTGCTCGAATTTGG -3'
(R):5'- CAGAGACTCAACGGTTATCAGGC -3'
Posted On 2019-11-26