Incidental Mutation 'R0166:Tet1'
ID 24182
Institutional Source Beutler Lab
Gene Symbol Tet1
Ensembl Gene ENSMUSG00000047146
Gene Name tet methylcytosine dioxygenase 1
Synonyms Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228
MMRRC Submission 038442-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0166 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 10
Chromosomal Location 62640349-62723242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62676058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 673 (T673S)
Ref Sequence ENSEMBL: ENSMUSP00000059527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050826] [ENSMUST00000174189]
AlphaFold Q3URK3
Predicted Effect probably benign
Transcript: ENSMUST00000050826
AA Change: T673S

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: T673S

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 noncoding transcript
Transcript: ENSMUST00000173081
Predicted Effect probably benign
Transcript: ENSMUST00000174189
AA Change: T673S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: T673S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 91% (49/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,903,468 (GRCm39) F1040L probably damaging Het
Adamts7 A G 9: 90,075,745 (GRCm39) N1201S probably benign Het
Ahnak C T 19: 8,983,089 (GRCm39) P1458S probably damaging Het
Akap6 T C 12: 53,187,707 (GRCm39) V1707A probably benign Het
Akr1c21 T A 13: 4,631,263 (GRCm39) V266E probably damaging Het
Arap2 A C 5: 62,833,361 (GRCm39) C894G probably damaging Het
Atp2a2 T C 5: 122,604,901 (GRCm39) D426G possibly damaging Het
Azi2 A T 9: 117,884,909 (GRCm39) Q132L possibly damaging Het
Carmil1 C T 13: 24,283,032 (GRCm39) D91N probably damaging Het
Cnot7 A T 8: 40,960,494 (GRCm39) probably null Het
Cntnap5b A G 1: 100,202,086 (GRCm39) E311G probably benign Het
Csmd1 A G 8: 16,283,036 (GRCm39) V640A probably benign Het
Cst7 T C 2: 150,417,647 (GRCm39) S31P probably benign Het
Cyp7b1 T A 3: 18,151,530 (GRCm39) I228L probably benign Het
Ddx28 G A 8: 106,736,921 (GRCm39) T379I probably benign Het
Drd1 T A 13: 54,207,600 (GRCm39) I205F probably damaging Het
Flnb T A 14: 7,896,115 (GRCm38) V837D probably damaging Het
Fsd1l A G 4: 53,647,664 (GRCm39) probably null Het
Fubp1 T A 3: 151,925,841 (GRCm39) Y264* probably null Het
Gbp5 T A 3: 142,212,680 (GRCm39) probably null Het
Gm7094 A G 1: 21,342,958 (GRCm39) noncoding transcript Het
Gpr55 A G 1: 85,868,858 (GRCm39) V241A probably benign Het
Impa1 C T 3: 10,394,020 (GRCm39) A16T probably damaging Het
Llgl2 T C 11: 115,735,680 (GRCm39) L92P probably damaging Het
Ltbp2 T A 12: 84,833,132 (GRCm39) Q1472L probably benign Het
Lyplal1 A T 1: 185,820,943 (GRCm39) M168K probably benign Het
Macc1 A T 12: 119,410,815 (GRCm39) R528* probably null Het
Mdm1 T A 10: 118,002,585 (GRCm39) D635E probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mrpl23 C T 7: 142,088,851 (GRCm39) R69W probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nr0b2 A G 4: 133,281,049 (GRCm39) Q105R probably damaging Het
Or8b53 T A 9: 38,667,484 (GRCm39) S167T probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Pcdhb14 A T 18: 37,581,542 (GRCm39) probably null Het
Plxna1 A G 6: 89,310,001 (GRCm39) W1055R probably damaging Het
Pramel22 T A 4: 143,381,081 (GRCm39) H314L probably benign Het
Prdm1 C T 10: 44,316,087 (GRCm39) R716Q probably damaging Het
Proser1 C A 3: 53,388,038 (GRCm39) Q909K possibly damaging Het
Pus10 T A 11: 23,617,358 (GRCm39) C24S probably damaging Het
Rpl27 T A 11: 101,336,146 (GRCm39) F69I possibly damaging Het
Sctr A T 1: 119,983,124 (GRCm39) I325F probably damaging Het
Slc49a4 G A 16: 35,539,684 (GRCm39) T379I possibly damaging Het
Slc5a3 G A 16: 91,874,581 (GRCm39) V213I possibly damaging Het
Spib G T 7: 44,179,324 (GRCm39) D28E probably damaging Het
Spic T C 10: 88,511,579 (GRCm39) S226G possibly damaging Het
Tph1 A G 7: 46,297,020 (GRCm39) F392L probably damaging Het
Ttc28 T C 5: 111,373,500 (GRCm39) S979P probably benign Het
Unc79 T C 12: 103,122,812 (GRCm39) L2110P probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Zfp467 T C 6: 48,415,615 (GRCm39) T346A 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
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
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'- TGCAGTTTGAGGGATCAGTCAGC -3'
(R):5'- GCATCTCCTTGTAGACATTCAGCGG -3'

Sequencing Primer
(F):5'- GAGGAATTATTTCCCAACGCCTTG -3'
(R):5'- AGACATTCAGCGGGTGGTG -3'
Posted On 2013-04-16