Incidental Mutation 'R7210:Tet1'
ID 561009
Institutional Source Beutler Lab
Gene Symbol Tet1
Ensembl Gene ENSMUSG00000047146
Gene Name tet methylcytosine dioxygenase 1
Synonyms Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228
MMRRC Submission 045239-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7210 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 62640349-62723242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62650280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 14 (C14S)
Ref Sequence ENSEMBL: ENSMUSP00000134328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050826] [ENSMUST00000174121] [ENSMUST00000174189]
AlphaFold Q3URK3
Predicted Effect probably null
Transcript: ENSMUST00000050826
AA Change: C1611S

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: C1611S

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
low complexity region 118 132 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
Pfam:zf-CXXC 566 607 2.5e-11 PFAM
low complexity region 884 902 N/A INTRINSIC
low complexity region 1087 1106 N/A INTRINSIC
Tet_JBP 1528 1931 1e-171 SMART
low complexity region 1944 1956 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000173087
AA Change: C13S
SMART Domains Protein: ENSMUSP00000133706
Gene: ENSMUSG00000047146
AA Change: C13S

DomainStartEndE-ValueType
Tet_JBP 2 138 2.64e-3 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000134571
Gene: ENSMUSG00000047146
AA Change: C14S

DomainStartEndE-ValueType
Pfam:Tet_JBP 1 61 2.4e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000174121
AA Change: C14S

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134328
Gene: ENSMUSG00000047146
AA Change: C14S

DomainStartEndE-ValueType
Tet_JBP 1 352 1.49e-83 SMART
low complexity region 365 377 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000174189
AA Change: C1643S

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: C1643S

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
low complexity region 118 132 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
Pfam:zf-CXXC 566 607 2.7e-10 PFAM
low complexity region 884 902 N/A INTRINSIC
low complexity region 1087 1106 N/A INTRINSIC
Tet_JBP 1528 1963 7.36e-170 SMART
low complexity region 1976 1988 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit background sensitive lethality, abnormal forebrain development, abnormal female reproductive organs and decreased litter size. Mice homozygous for a different knock-out allele exhibit impaired adult neurogenesis, impaired spatial learning and impaired short-term memory retention. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 G A 11: 94,264,767 (GRCm39) P194S probably benign Het
Ackr2 C T 9: 121,737,943 (GRCm39) A106V possibly damaging Het
Alg3 G A 16: 20,424,644 (GRCm39) P112L unknown Het
Areg T A 5: 91,288,764 (GRCm39) Y23* probably null Het
Aspn A G 13: 49,719,967 (GRCm39) T328A probably benign Het
B020011L13Rik A T 1: 117,729,241 (GRCm39) E249D possibly damaging Het
Bptf G A 11: 106,945,290 (GRCm39) Q2650* probably null Het
Btbd3 A T 2: 138,125,664 (GRCm39) R283W probably damaging Het
Cep131 T C 11: 119,955,615 (GRCm39) H1035R probably damaging Het
Cfap57 A T 4: 118,433,900 (GRCm39) Y959* probably null Het
Cnot1 T C 8: 96,515,286 (GRCm39) Y25C probably damaging Het
Crebbp G A 16: 3,902,121 (GRCm39) H2373Y possibly damaging Het
Ctnna3 T C 10: 64,086,547 (GRCm39) L373P probably damaging Het
Cyp8b1 T A 9: 121,744,246 (GRCm39) D362V probably damaging Het
D630003M21Rik T A 2: 158,057,932 (GRCm39) probably null Het
Dpp6 T C 5: 27,803,801 (GRCm39) I249T probably damaging Het
Fam149b T G 14: 20,428,540 (GRCm39) I475M probably damaging Het
Fat1 A G 8: 45,476,540 (GRCm39) Y1862C probably damaging Het
Fcrl5 A T 3: 87,353,719 (GRCm39) N355Y possibly damaging Het
Fgd6 C T 10: 93,969,954 (GRCm39) T1201I probably damaging Het
Fndc8 A T 11: 82,788,692 (GRCm39) D174V probably damaging Het
Gatb A G 3: 85,481,527 (GRCm39) H26R probably benign Het
Gm37240 T A 3: 84,405,114 (GRCm39) T230S probably benign Het
Gria4 T C 9: 4,464,135 (GRCm39) Q609R probably damaging Het
Gse1 C A 8: 120,957,441 (GRCm39) T644K unknown Het
Ifit1bl1 T G 19: 34,571,564 (GRCm39) I298L probably benign Het
Il31ra T C 13: 112,686,034 (GRCm39) D85G possibly damaging Het
Katnip T C 7: 125,471,411 (GRCm39) V1504A probably damaging Het
Lyst T C 13: 13,831,568 (GRCm39) L1664P probably damaging Het
Mrpl35 A G 6: 71,794,722 (GRCm39) L82S possibly damaging Het
Myo7b G A 18: 32,140,155 (GRCm39) R212C probably damaging Het
Myom2 T C 8: 15,154,114 (GRCm39) V684A probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nop58 G T 1: 59,749,539 (GRCm39) probably null Het
Nudt13 T A 14: 20,359,852 (GRCm39) I193N possibly damaging Het
Nyap1 C A 5: 137,736,244 (GRCm39) R81L probably damaging Het
Or1e28-ps1 T C 11: 73,615,699 (GRCm39) I50M possibly damaging Het
Oxct2b A C 4: 123,010,069 (GRCm39) probably benign Het
Pcf11 C T 7: 92,312,684 (GRCm39) A230T probably benign Het
Phactr4 A T 4: 132,085,582 (GRCm39) *695R probably null Het
Pkd1 T C 17: 24,794,840 (GRCm39) S2176P probably damaging Het
Plch2 C A 4: 155,093,543 (GRCm39) R133L probably damaging Het
Ptprq G T 10: 107,521,032 (GRCm39) N713K probably damaging Het
Ptrh2 A T 11: 86,580,793 (GRCm39) T137S probably benign Het
R3hdm1 A G 1: 128,138,945 (GRCm39) Y718C possibly damaging Het
Rftn1 T A 17: 50,301,335 (GRCm39) R505* probably null Het
Rps15a A G 7: 117,708,334 (GRCm39) F128L probably benign Het
Slc25a25 A T 2: 32,310,408 (GRCm39) M177K possibly damaging Het
Smgc C A 15: 91,744,492 (GRCm39) P631Q probably damaging Het
Sox2 T C 3: 34,705,306 (GRCm39) S248P probably damaging Het
Sycp1 T C 3: 102,760,808 (GRCm39) K702E probably damaging Het
Tes G T 6: 17,104,761 (GRCm39) C414F probably damaging Het
Tle3 C T 9: 61,319,587 (GRCm39) P452S probably damaging Het
Tmc6 A C 11: 117,666,670 (GRCm39) L131R possibly damaging Het
Tnip3 C T 6: 65,570,495 (GRCm39) R30* probably null Het
Tnrc6b G T 15: 80,813,486 (GRCm39) G1748W probably damaging Het
Ugt2b38 T G 5: 87,558,284 (GRCm39) D459A probably damaging Het
Zdhhc2 A T 8: 40,920,480 (GRCm39) R246S probably damaging Het
Zscan22 T A 7: 12,640,748 (GRCm39) C331S probably damaging Het
Other mutations in Tet1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Tet1 APN 10 62,650,276 (GRCm39) missense probably damaging 1.00
IGL01079:Tet1 APN 10 62,715,252 (GRCm39) missense probably damaging 0.99
IGL01109:Tet1 APN 10 62,715,553 (GRCm39) missense probably benign
IGL01634:Tet1 APN 10 62,714,367 (GRCm39) missense possibly damaging 0.94
IGL02003:Tet1 APN 10 62,652,179 (GRCm39) missense possibly damaging 0.92
IGL02081:Tet1 APN 10 62,649,597 (GRCm39) missense probably damaging 1.00
IGL02100:Tet1 APN 10 62,648,507 (GRCm39) missense possibly damaging 0.92
IGL02228:Tet1 APN 10 62,649,513 (GRCm39) missense probably damaging 0.99
IGL02524:Tet1 APN 10 62,714,425 (GRCm39) missense probably damaging 1.00
IGL02539:Tet1 APN 10 62,648,798 (GRCm39) missense possibly damaging 0.60
IGL02608:Tet1 APN 10 62,674,866 (GRCm39) missense probably damaging 1.00
IGL02608:Tet1 APN 10 62,715,388 (GRCm39) missense possibly damaging 0.82
IGL02702:Tet1 APN 10 62,715,531 (GRCm39) missense possibly damaging 0.83
K7371:Tet1 UTSW 10 62,714,955 (GRCm39) missense probably benign
R0166:Tet1 UTSW 10 62,676,058 (GRCm39) missense probably benign 0.05
R0371:Tet1 UTSW 10 62,714,178 (GRCm39) missense probably damaging 0.97
R0373:Tet1 UTSW 10 62,713,988 (GRCm39) nonsense probably null
R0391:Tet1 UTSW 10 62,650,325 (GRCm39) splice site probably null
R0445:Tet1 UTSW 10 62,715,720 (GRCm39) missense probably benign 0.08
R1016:Tet1 UTSW 10 62,715,729 (GRCm39) missense probably benign
R1344:Tet1 UTSW 10 62,650,300 (GRCm39) missense probably damaging 1.00
R1546:Tet1 UTSW 10 62,648,689 (GRCm39) missense probably damaging 1.00
R1651:Tet1 UTSW 10 62,715,453 (GRCm39) missense probably damaging 1.00
R1725:Tet1 UTSW 10 62,650,256 (GRCm39) missense probably damaging 1.00
R1752:Tet1 UTSW 10 62,648,768 (GRCm39) missense probably damaging 0.99
R1834:Tet1 UTSW 10 62,649,444 (GRCm39) missense probably damaging 0.99
R1964:Tet1 UTSW 10 62,648,726 (GRCm39) missense possibly damaging 0.86
R2239:Tet1 UTSW 10 62,715,513 (GRCm39) missense probably benign 0.01
R2962:Tet1 UTSW 10 62,650,323 (GRCm39) nonsense probably null
R3084:Tet1 UTSW 10 62,715,400 (GRCm39) missense probably benign 0.34
R3086:Tet1 UTSW 10 62,715,400 (GRCm39) missense probably benign 0.34
R3972:Tet1 UTSW 10 62,649,505 (GRCm39) missense probably damaging 1.00
R4622:Tet1 UTSW 10 62,655,253 (GRCm39) missense possibly damaging 0.92
R4674:Tet1 UTSW 10 62,674,627 (GRCm39) missense probably damaging 0.97
R4687:Tet1 UTSW 10 62,674,570 (GRCm39) missense probably benign 0.04
R4718:Tet1 UTSW 10 62,649,591 (GRCm39) missense probably damaging 0.96
R4801:Tet1 UTSW 10 62,658,442 (GRCm39) missense probably damaging 0.99
R4802:Tet1 UTSW 10 62,658,442 (GRCm39) missense probably damaging 0.99
R4903:Tet1 UTSW 10 62,658,437 (GRCm39) missense probably damaging 1.00
R5153:Tet1 UTSW 10 62,714,357 (GRCm39) missense possibly damaging 0.85
R5193:Tet1 UTSW 10 62,674,026 (GRCm39) missense probably benign 0.22
R5225:Tet1 UTSW 10 62,674,450 (GRCm39) missense probably damaging 1.00
R5437:Tet1 UTSW 10 62,650,230 (GRCm39) missense probably benign 0.01
R5465:Tet1 UTSW 10 62,675,556 (GRCm39) missense probably benign
R5535:Tet1 UTSW 10 62,668,686 (GRCm39) missense probably damaging 1.00
R5586:Tet1 UTSW 10 62,714,073 (GRCm39) missense probably damaging 1.00
R5763:Tet1 UTSW 10 62,675,847 (GRCm39) missense probably damaging 1.00
R5788:Tet1 UTSW 10 62,675,737 (GRCm39) missense possibly damaging 0.70
R5818:Tet1 UTSW 10 62,652,187 (GRCm39) missense possibly damaging 0.71
R5860:Tet1 UTSW 10 62,648,399 (GRCm39) splice site probably null
R5975:Tet1 UTSW 10 62,715,552 (GRCm39) missense probably benign 0.37
R6041:Tet1 UTSW 10 62,649,152 (GRCm39) missense probably damaging 0.98
R6092:Tet1 UTSW 10 62,649,494 (GRCm39) missense probably benign 0.10
R6132:Tet1 UTSW 10 62,649,079 (GRCm39) missense probably damaging 0.99
R6157:Tet1 UTSW 10 62,675,749 (GRCm39) missense probably damaging 0.98
R6520:Tet1 UTSW 10 62,715,792 (GRCm39) start codon destroyed probably null 0.53
R7223:Tet1 UTSW 10 62,649,450 (GRCm39) missense possibly damaging 0.95
R7255:Tet1 UTSW 10 62,658,415 (GRCm39) missense probably benign 0.15
R7323:Tet1 UTSW 10 62,715,818 (GRCm39) start gained probably benign
R7472:Tet1 UTSW 10 62,649,129 (GRCm39) missense possibly damaging 0.84
R7507:Tet1 UTSW 10 62,668,671 (GRCm39) critical splice donor site probably null
R7522:Tet1 UTSW 10 62,654,762 (GRCm39) missense possibly damaging 0.82
R7849:Tet1 UTSW 10 62,655,252 (GRCm39) missense possibly damaging 0.83
R7879:Tet1 UTSW 10 62,714,825 (GRCm39) missense probably benign 0.03
R8073:Tet1 UTSW 10 62,649,132 (GRCm39) missense probably damaging 0.98
R8098:Tet1 UTSW 10 62,714,859 (GRCm39) missense probably damaging 1.00
R8147:Tet1 UTSW 10 62,714,586 (GRCm39) missense probably benign 0.01
R8355:Tet1 UTSW 10 62,652,229 (GRCm39) missense possibly damaging 0.89
R8545:Tet1 UTSW 10 62,648,718 (GRCm39) missense probably damaging 1.00
R8556:Tet1 UTSW 10 62,675,985 (GRCm39) missense probably benign 0.37
R8936:Tet1 UTSW 10 62,676,063 (GRCm39) nonsense probably null
R9173:Tet1 UTSW 10 62,676,065 (GRCm39) missense probably benign
R9414:Tet1 UTSW 10 62,674,935 (GRCm39) missense probably benign 0.01
R9584:Tet1 UTSW 10 62,655,306 (GRCm39) missense probably damaging 1.00
Z1177:Tet1 UTSW 10 62,654,764 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- TGGGATTAAAGCCTTGTCCAAC -3'
(R):5'- CCGGCATCTGAACATGTGTG -3'

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