Incidental Mutation 'R1651:Tet1'
ID 186396
Institutional Source Beutler Lab
Gene Symbol Tet1
Ensembl Gene ENSMUSG00000047146
Gene Name tet methylcytosine dioxygenase 1
Synonyms Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228
MMRRC Submission 039687-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1651 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 62640349-62723242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62715453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 114 (L114P)
Ref Sequence ENSEMBL: ENSMUSP00000059527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050826] [ENSMUST00000174189] [ENSMUST00000218438] [ENSMUST00000218782] [ENSMUST00000227494] [ENSMUST00000228901]
AlphaFold Q3URK3
Predicted Effect probably damaging
Transcript: ENSMUST00000050826
AA Change: L114P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: L114P

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 damaging
Transcript: ENSMUST00000174189
AA Change: L114P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: L114P

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
Predicted Effect probably benign
Transcript: ENSMUST00000218438
Predicted Effect probably benign
Transcript: ENSMUST00000218782
Predicted Effect probably benign
Transcript: ENSMUST00000227494
Predicted Effect probably benign
Transcript: ENSMUST00000228901
Meta Mutation Damage Score 0.1933 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (66/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 T A 2: 150,690,341 (GRCm39) Q118L probably benign Het
Acss1 A T 2: 150,480,357 (GRCm39) V238D possibly damaging Het
Adgrv1 T C 13: 81,635,972 (GRCm39) I3512M probably benign Het
Arhgap32 A G 9: 32,171,096 (GRCm39) Q1292R probably damaging Het
Bpnt2 A G 4: 4,792,737 (GRCm39) F123L probably damaging Het
Caskin1 C T 17: 24,721,186 (GRCm39) R509C possibly damaging Het
Cd47 T C 16: 49,714,591 (GRCm39) V147A possibly damaging Het
Cdc20b T A 13: 113,215,258 (GRCm39) Y275* probably null Het
Chd4 A G 6: 125,100,547 (GRCm39) D1745G possibly damaging Het
Crmp1 T A 5: 37,430,783 (GRCm39) S250T probably damaging Het
Crybg2 A G 4: 133,802,214 (GRCm39) K1125E probably benign Het
Crybg2 C A 4: 133,802,136 (GRCm39) P1099T possibly damaging Het
Csf1r T A 18: 61,243,473 (GRCm39) I163N possibly damaging Het
Dicer1 T C 12: 104,675,064 (GRCm39) T733A probably damaging Het
Edar A G 10: 58,441,875 (GRCm39) V339A possibly damaging Het
Efcab3 A G 11: 104,611,492 (GRCm39) R445G probably benign Het
Efcab6 A G 15: 83,755,194 (GRCm39) I1374T possibly damaging Het
Erbb2 G A 11: 98,324,283 (GRCm39) R757K probably damaging Het
Fam98a A G 17: 75,854,710 (GRCm39) V33A probably benign Het
Farp2 T C 1: 93,531,191 (GRCm39) probably null Het
Fcmr A G 1: 130,805,988 (GRCm39) T315A probably benign Het
Gdf9 G A 11: 53,324,576 (GRCm39) R115Q probably damaging Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
H2-M10.1 A G 17: 36,636,648 (GRCm39) V52A probably damaging Het
Hspg2 T A 4: 137,260,748 (GRCm39) C1582* probably null Het
Icam2 C T 11: 106,268,782 (GRCm39) V229M probably damaging Het
Itga7 C T 10: 128,784,693 (GRCm39) P735L probably benign Het
Kbtbd3 C A 9: 4,330,589 (GRCm39) P321Q possibly damaging Het
Kcnma1 T A 14: 23,364,262 (GRCm39) T997S probably damaging Het
Kifc5b T C 17: 27,144,504 (GRCm39) F541S probably damaging Het
Klhdc9 C A 1: 171,188,016 (GRCm39) V72L probably benign Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lrrtm4 A G 6: 79,999,511 (GRCm39) T308A probably benign Het
Map1b T C 13: 99,569,091 (GRCm39) E1210G unknown Het
Mocs3 A G 2: 168,073,489 (GRCm39) Y312C probably damaging Het
Mrps7 G T 11: 115,495,581 (GRCm39) E40* probably null Het
Msantd5f1 A T 4: 73,605,621 (GRCm39) N344I possibly damaging Het
Msln T C 17: 25,972,382 (GRCm39) H50R probably benign Het
Myb A G 10: 21,002,097 (GRCm39) F748S probably damaging Het
Myo10 C A 15: 25,742,455 (GRCm39) H590N probably damaging Het
Naip5 T C 13: 100,358,419 (GRCm39) E939G probably benign Het
Nbeal1 T A 1: 60,239,278 (GRCm39) V107E probably damaging Het
Nrcam A T 12: 44,623,462 (GRCm39) N1011I probably damaging Het
Or14c44 A G 7: 86,057,078 (GRCm39) probably benign Het
Or1ak2 T C 2: 36,827,335 (GRCm39) L68P probably damaging Het
Or4c118 A C 2: 88,975,346 (GRCm39) V7G probably damaging Het
Pcgf6 A T 19: 47,037,441 (GRCm39) C153S probably damaging Het
Phrf1 T C 7: 140,817,434 (GRCm39) V81A probably benign Het
Ppp4r4 A G 12: 103,550,331 (GRCm39) N36D probably benign Het
Prkch A G 12: 73,805,775 (GRCm39) T517A possibly damaging Het
Rasal1 A T 5: 120,790,910 (GRCm39) K33* probably null Het
Rp1l1 G A 14: 64,268,442 (GRCm39) E1343K probably damaging Het
Serpinb6e T C 13: 34,020,406 (GRCm39) D234G probably benign Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Smyd3 T G 1: 178,871,441 (GRCm39) I313L probably benign Het
Tdrd9 C A 12: 111,991,140 (GRCm39) D543E probably damaging Het
Tmprss11c G A 5: 86,387,283 (GRCm39) P212S probably damaging Het
Tmx2 A T 2: 84,506,461 (GRCm39) M77K probably damaging Het
Traf3 T G 12: 111,228,470 (GRCm39) D560E probably damaging Het
Trappc12 C T 12: 28,741,776 (GRCm39) M711I probably benign Het
Trim2 A G 3: 84,074,957 (GRCm39) probably null Het
Vmn2r18 A G 5: 151,485,464 (GRCm39) S677P probably damaging Het
Wdr7 T A 18: 63,853,847 (GRCm39) L60* probably null Het
Wdr93 T C 7: 79,399,830 (GRCm39) F140L probably benign Het
Zfp638 A G 6: 83,931,719 (GRCm39) T802A 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
R1546:Tet1 UTSW 10 62,648,689 (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'- TGATCTTTGGGGCAATGGAGCAC -3'
(R):5'- TCAAAGCAGGCTGTCAGACATGG -3'

Sequencing Primer
(F):5'- GCAATGGAGCACACTCTTG -3'
(R):5'- CTGTCAGACATGGGGCATCAG -3'
Posted On 2014-05-09