Incidental Mutation 'R9488:Tet2'
ID 716736
Institutional Source Beutler Lab
Gene Symbol Tet2
Ensembl Gene ENSMUSG00000040943
Gene Name tet methylcytosine dioxygenase 2
Synonyms E130014J05Rik, Ayu17-449
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9488 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 133169438-133250882 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133193103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 444 (S444T)
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: S444T

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096203
Gene: ENSMUSG00000040943
AA Change: S444T

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: S444T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143029
Gene: ENSMUSG00000040943
AA Change: S444T

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,643,212 (GRCm39) I294L probably benign Het
Ankrd35 A T 3: 96,589,343 (GRCm39) K187N probably damaging Het
Arhgap40 C T 2: 158,391,571 (GRCm39) T631M possibly damaging Het
Arpin T C 7: 79,584,979 (GRCm39) Y5C probably damaging Het
B020011L13Rik A G 1: 117,728,724 (GRCm39) Y77C Het
Cdk17 A G 10: 93,044,066 (GRCm39) K2E probably damaging Het
Cdk18 A G 1: 132,049,260 (GRCm39) F86L probably benign Het
Cfap418 A G 4: 10,893,271 (GRCm39) D130G probably damaging Het
Clca4a T C 3: 144,659,532 (GRCm39) T775A probably damaging Het
Clvs2 T A 10: 33,389,301 (GRCm39) D313V possibly damaging Het
Col6a5 T C 9: 105,741,788 (GRCm39) Y2377C probably damaging Het
Drd2 T C 9: 49,311,094 (GRCm39) V115A probably damaging Het
Dsp A G 13: 38,377,218 (GRCm39) R1668G probably benign Het
Eif2d T A 1: 131,082,962 (GRCm39) V102E probably damaging Het
Fmo4 A G 1: 162,631,337 (GRCm39) V210A probably damaging Het
Galntl5 A G 5: 25,415,437 (GRCm39) R323G probably damaging Het
Git2 T C 5: 114,904,533 (GRCm39) T129A probably benign Het
Gm572 A G 4: 148,752,913 (GRCm39) H264R possibly damaging Het
Hnrnpll T C 17: 80,369,385 (GRCm39) T13A unknown Het
Ighv7-4 T C 12: 114,186,619 (GRCm39) Y51C probably damaging Het
Irag2 G A 6: 145,113,753 (GRCm39) R307Q probably damaging Het
Jam2 A G 16: 84,619,676 (GRCm39) D289G probably damaging Het
Krt27 A G 11: 99,239,535 (GRCm39) probably null Het
Lama5 T C 2: 179,823,234 (GRCm39) N2704S possibly damaging Het
Lhx8 A T 3: 154,033,764 (GRCm39) S70T possibly damaging Het
Lmo7 C A 14: 102,122,783 (GRCm39) T324N possibly damaging Het
Man2a1 A G 17: 65,040,734 (GRCm39) T907A possibly damaging Het
Map3k4 C T 17: 12,489,860 (GRCm39) A524T probably damaging Het
Mga C T 2: 119,795,304 (GRCm39) A2996V possibly damaging Het
Mybpc1 A T 10: 88,379,624 (GRCm39) M625K possibly damaging Het
Ncald T A 15: 37,372,369 (GRCm39) N159Y probably damaging Het
Nfasc T C 1: 132,527,866 (GRCm39) T832A possibly damaging Het
P2rx5 T A 11: 73,056,427 (GRCm39) I117N Het
Pcdhb3 C A 18: 37,435,416 (GRCm39) R461S possibly damaging Het
Polr1b T C 2: 128,967,417 (GRCm39) S937P probably damaging Het
Prep C A 10: 44,996,807 (GRCm39) Q362K Het
Prg4 T C 1: 150,327,024 (GRCm39) M342V probably benign Het
Prr14 A T 7: 127,073,687 (GRCm39) T184S possibly damaging Het
Prss58 A G 6: 40,874,382 (GRCm39) I98T probably benign Het
Pum3 T C 19: 27,394,188 (GRCm39) T361A probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,129 (GRCm39) probably benign Het
Sema4c A G 1: 36,591,067 (GRCm39) V424A probably benign Het
Sema6a A T 18: 47,437,216 (GRCm39) I58N probably damaging Het
Slc13a3 T A 2: 165,250,851 (GRCm39) Y506F probably damaging Het
Slc15a2 A G 16: 36,579,651 (GRCm39) V365A probably benign Het
Slc39a5 G A 10: 128,233,628 (GRCm39) L290F probably damaging Het
Spata31f1a A G 4: 42,850,560 (GRCm39) V532A probably benign Het
Taf6l T C 19: 8,759,436 (GRCm39) T161A probably benign Het
Tbl2 T A 5: 135,187,471 (GRCm39) C243S probably benign Het
Thoc1 C T 18: 9,992,168 (GRCm39) L499F probably damaging Het
Tnc A G 4: 63,913,942 (GRCm39) V1290A probably damaging Het
Tnpo1 T C 13: 98,990,003 (GRCm39) D716G probably damaging Het
Tpp2 A T 1: 44,041,272 (GRCm39) K1236N probably benign Het
Tshr T C 12: 91,504,589 (GRCm39) V509A probably damaging Het
U2surp T C 9: 95,356,535 (GRCm39) T775A Het
Ubap2l T C 3: 89,928,656 (GRCm39) T486A probably benign Het
Usp28 C A 9: 48,935,288 (GRCm39) P457T probably damaging Het
Usp44 A G 10: 93,682,851 (GRCm39) I387V possibly damaging Het
Vmn1r225 A G 17: 20,722,793 (GRCm39) D78G probably damaging Het
Vps13b T C 15: 35,447,880 (GRCm39) M537T possibly damaging Het
Wdr6 G A 9: 108,453,182 (GRCm39) R234C probably damaging Het
Zfp1005 G A 2: 150,110,477 (GRCm39) G389D unknown Het
Zfp949 C A 9: 88,452,182 (GRCm39) T584N 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
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
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'- TGTGCCCCATCAGGTATTGG -3'
(R):5'- GCAAAGCTCGAAGTTCCCTAAAG -3'

Sequencing Primer
(F):5'- GCCCCATCAGGTATTGGCTATG -3'
(R):5'- GCTCGAAGTTCCCTAAAGATTCC -3'
Posted On 2022-07-18