Incidental Mutation 'R1546:Tet1'
ID 172190
Institutional Source Beutler Lab
Gene Symbol Tet1
Ensembl Gene ENSMUSG00000047146
Gene Name tet methylcytosine dioxygenase 1
Synonyms Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228
MMRRC Submission 039585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1546 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62640349-62723242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62648689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1914 (D1914E)
Ref Sequence ENSEMBL: ENSMUSP00000133279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050826] [ENSMUST00000174121] [ENSMUST00000174189]
AlphaFold Q3URK3
Predicted Effect probably damaging
Transcript: ENSMUST00000050826
AA Change: D1882E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: D1882E

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 benign
Transcript: ENSMUST00000173087
SMART Domains Protein: ENSMUSP00000133706
Gene: ENSMUSG00000047146

DomainStartEndE-ValueType
Tet_JBP 2 138 2.64e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173905
SMART Domains Protein: ENSMUSP00000134571
Gene: ENSMUSG00000047146

DomainStartEndE-ValueType
Pfam:Tet_JBP 1 61 2.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174121
AA Change: D303E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134328
Gene: ENSMUSG00000047146
AA Change: D303E

DomainStartEndE-ValueType
Tet_JBP 1 352 1.49e-83 SMART
low complexity region 365 377 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174189
AA Change: D1914E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: D1914E

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: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.2%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T C 4: 148,026,232 (GRCm39) S251P probably damaging Het
Aaas C A 15: 102,255,153 (GRCm39) R79L probably benign Het
Acap2 C A 16: 30,923,754 (GRCm39) E657* probably null Het
Adgrg5 A T 8: 95,668,258 (GRCm39) E441V probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
AY358078 C T 14: 52,057,876 (GRCm39) probably null Het
Bco2 A G 9: 50,461,929 (GRCm39) V25A possibly damaging Het
Bltp1 T C 3: 36,924,205 (GRCm39) V10A possibly damaging Het
Carf T A 1: 60,165,195 (GRCm39) probably null Het
Ccdc38 A T 10: 93,401,741 (GRCm39) I134L probably benign Het
Cgnl1 A G 9: 71,633,097 (GRCm39) S85P probably benign Het
Ctsl A G 13: 64,515,693 (GRCm39) V126A probably damaging Het
Cwc27 A C 13: 104,938,693 (GRCm39) S206A probably damaging Het
D630045J12Rik A G 6: 38,167,590 (GRCm39) I1004T probably damaging Het
Dgki A G 6: 37,027,138 (GRCm39) V401A probably damaging Het
Dpp8 C T 9: 64,970,775 (GRCm39) H545Y possibly damaging Het
Dpy19l1 A T 9: 24,386,680 (GRCm39) C205S probably damaging Het
Enpp2 C T 15: 54,709,225 (GRCm39) E797K probably benign Het
Ephb2 C T 4: 136,498,320 (GRCm39) R253H probably damaging Het
Esrra T C 19: 6,897,665 (GRCm39) T31A probably benign Het
Ewsr1 C A 11: 5,028,574 (GRCm39) probably benign Het
Flt4 G T 11: 49,522,808 (GRCm39) R475L probably benign Het
Gm13547 A G 2: 29,653,921 (GRCm39) E138G possibly damaging Het
Gm572 A T 4: 148,751,276 (GRCm39) R216S possibly damaging Het
H2ac8 A G 13: 23,755,119 (GRCm39) V55A probably damaging Het
Hapln2 T A 3: 87,931,404 (GRCm39) Y37F probably benign Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,302 (GRCm39) probably benign Het
Hhla1 C T 15: 65,805,176 (GRCm39) A369T probably benign Het
Hmg20a T A 9: 56,374,685 (GRCm39) F14I possibly damaging Het
Iqca1l A T 5: 24,760,426 (GRCm39) probably null Het
Itga2 A T 13: 114,985,956 (GRCm39) S940T possibly damaging Het
Kcnt2 A G 1: 140,359,116 (GRCm39) N377S probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lhx6 A G 2: 35,981,049 (GRCm39) S298P probably benign Het
Lrp2 C T 2: 69,332,954 (GRCm39) G1521D probably damaging Het
Mogat2 A G 7: 98,881,766 (GRCm39) W57R probably damaging Het
Ms4a3 T C 19: 11,610,271 (GRCm39) N97S probably benign Het
Myo1a A G 10: 127,548,493 (GRCm39) D380G probably damaging Het
Nufip2 T A 11: 77,582,432 (GRCm39) D115E probably damaging Het
Ogn A T 13: 49,762,809 (GRCm39) K50N probably benign Het
Or5ac20 T C 16: 59,104,366 (GRCm39) R165G probably damaging Het
Or8c10 A T 9: 38,278,844 (GRCm39) M1L probably benign Het
Pde8b G A 13: 95,182,951 (GRCm39) T269I probably damaging Het
Ppargc1b A T 18: 61,443,677 (GRCm39) D495E probably damaging Het
Prdm16 C A 4: 154,613,117 (GRCm39) K103N possibly damaging Het
Proc C T 18: 32,260,463 (GRCm39) G221S probably damaging Het
Pxk A G 14: 8,164,091 (GRCm38) N561S probably damaging Het
Rapgef5 A G 12: 117,610,721 (GRCm39) N323S probably benign Het
Slc6a13 T G 6: 121,309,333 (GRCm39) D281E possibly damaging Het
Slc8a1 T C 17: 81,955,676 (GRCm39) Y454C probably damaging Het
Sntg2 C A 12: 30,338,295 (GRCm39) L115F probably damaging Het
Spata13 A G 14: 60,993,857 (GRCm39) D1103G probably damaging Het
Supv3l1 G A 10: 62,268,225 (GRCm39) A540V probably benign Het
Tmem30a A G 9: 79,678,570 (GRCm39) *329Q probably null Het
Tspan5 A T 3: 138,604,102 (GRCm39) L162F probably damaging Het
Ttn T A 2: 76,549,396 (GRCm39) K31760N probably damaging Het
Tyr A T 7: 87,087,200 (GRCm39) D437E probably benign Het
Ubr4 T A 4: 139,144,238 (GRCm39) L1427* probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vcan A G 13: 89,841,075 (GRCm39) S1490P probably damaging Het
Vcl T A 14: 21,059,018 (GRCm39) C545S probably damaging Het
Vmn2r4 C T 3: 64,314,309 (GRCm39) G224D probably damaging Het
Vmn2r97 T A 17: 19,168,110 (GRCm39) V788E probably damaging Het
Vrtn G A 12: 84,695,282 (GRCm39) V11M probably damaging Het
Zbtb21 A T 16: 97,753,227 (GRCm39) V380D probably damaging Het
Zcchc14 G A 8: 122,331,002 (GRCm39) probably benign 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
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
R7210:Tet1 UTSW 10 62,650,280 (GRCm39) missense probably null 0.95
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'- GATTGTAGGGTCCCGCAACATGAG -3'
(R):5'- AGCTGCTGGGGAATGTACTGGAAC -3'

Sequencing Primer
(F):5'- CGGTAACAACATTGTCTCGG -3'
(R):5'- AGTCCATCTGAGCAGCTAACTTC -3'
Posted On 2014-04-13