Incidental Mutation 'R1752:Tet1'
ID 193635
Institutional Source Beutler Lab
Gene Symbol Tet1
Ensembl Gene ENSMUSG00000047146
Gene Name tet methylcytosine dioxygenase 1
Synonyms Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228
MMRRC Submission 039784-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1752 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62640349-62723242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62648768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1888 (D1888V)
Ref Sequence ENSEMBL: ENSMUSP00000133279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050826] [ENSMUST00000174121] [ENSMUST00000174189]
AlphaFold Q3URK3
Predicted Effect possibly damaging
Transcript: ENSMUST00000050826
AA Change: D1856V

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: D1856V

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 possibly damaging
Transcript: ENSMUST00000174121
AA Change: D277V

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134328
Gene: ENSMUSG00000047146
AA Change: D277V

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: D1888V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: D1888V

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: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,842,468 (GRCm39) V1134A probably benign Het
Accsl C T 2: 93,688,375 (GRCm39) G420S probably damaging Het
Adam29 A G 8: 56,325,309 (GRCm39) S382P probably damaging Het
Apob T C 12: 8,038,766 (GRCm39) L393P probably benign Het
Arhgef19 T G 4: 140,978,354 (GRCm39) S616A probably benign Het
Atp11a C T 8: 12,863,094 (GRCm39) T91I probably damaging Het
Ccdc88b C T 19: 6,830,690 (GRCm39) V751I probably benign Het
Ccni T C 5: 93,350,315 (GRCm39) probably benign Het
Cd2 G A 3: 101,183,511 (GRCm39) A266V probably benign Het
Cd33 T C 7: 43,181,722 (GRCm39) D146G probably benign Het
Cdh16 A G 8: 105,346,505 (GRCm39) probably null Het
Chd1 T C 17: 15,963,494 (GRCm39) probably null Het
Chd5 A T 4: 152,459,590 (GRCm39) I1109F probably damaging Het
Cir1 T C 2: 73,140,882 (GRCm39) E29G probably damaging Het
Clec5a T C 6: 40,559,187 (GRCm39) T66A probably damaging Het
Cpa2 A G 6: 30,552,023 (GRCm39) D250G probably damaging Het
Crybg2 T A 4: 133,800,961 (GRCm39) L707H probably damaging Het
Csmd3 T C 15: 47,523,669 (GRCm39) T2646A probably benign Het
Cul7 G A 17: 46,964,093 (GRCm39) R390Q probably benign Het
Cyp2c69 T A 19: 39,869,597 (GRCm39) I141F probably damaging Het
Dapk2 C G 9: 66,127,925 (GRCm39) R68G probably damaging Het
Dclk2 C T 3: 86,713,434 (GRCm39) V470I possibly damaging Het
Dixdc1 A G 9: 50,593,850 (GRCm39) V530A probably benign Het
Dock7 A G 4: 98,854,681 (GRCm39) F1528L probably damaging Het
Edn1 T A 13: 42,457,075 (GRCm39) V36E possibly damaging Het
Eng T C 2: 32,563,404 (GRCm39) V319A probably benign Het
Epb41l2 A G 10: 25,336,690 (GRCm39) K229E probably damaging Het
Fam184a T C 10: 53,550,666 (GRCm39) N698S probably benign Het
Fndc7 T C 3: 108,776,646 (GRCm39) N465S probably benign Het
Fstl4 T C 11: 53,077,622 (GRCm39) V793A probably benign Het
Gm9797 A T 10: 11,485,287 (GRCm39) noncoding transcript Het
Hsd17b4 T C 18: 50,303,834 (GRCm39) S436P probably benign Het
Itsn2 T G 12: 4,761,950 (GRCm39) probably null Het
Kank3 T C 17: 34,038,791 (GRCm39) V570A probably damaging Het
Kif13a A T 13: 46,951,885 (GRCm39) F733Y probably damaging Het
Kif16b G T 2: 142,532,586 (GRCm39) D1184E probably benign Het
Kif20a A G 18: 34,764,634 (GRCm39) D727G possibly damaging Het
Kif20b T A 19: 34,915,736 (GRCm39) S504R probably benign Het
Lrrc37 T C 11: 103,505,381 (GRCm39) T2196A possibly damaging Het
Ltbp3 C A 19: 5,795,685 (GRCm39) H180Q probably benign Het
Luzp2 T C 7: 54,914,088 (GRCm39) S306P possibly damaging Het
Macf1 T C 4: 123,377,465 (GRCm39) I1490V possibly damaging Het
Manba T A 3: 135,212,706 (GRCm39) W72R probably damaging Het
Mast1 A G 8: 85,651,965 (GRCm39) V339A probably benign Het
Mnx1 A G 5: 29,682,727 (GRCm39) S183P unknown Het
Muc5b T G 7: 141,421,488 (GRCm39) L4326R possibly damaging Het
Myb T C 10: 21,032,336 (GRCm39) D15G possibly damaging Het
Ncapg2 A T 12: 116,390,338 (GRCm39) D429V probably damaging Het
Neurod6 A G 6: 55,656,511 (GRCm39) V42A probably benign Het
Nfxl1 A T 5: 72,698,218 (GRCm39) C276S probably damaging Het
Nptx2 C A 5: 144,492,171 (GRCm39) T316N probably damaging Het
Nrp2 T A 1: 62,777,600 (GRCm39) F135Y probably damaging Het
Nxpe3 A T 16: 55,686,837 (GRCm39) F57Y probably benign Het
Or4c109 C A 2: 88,817,659 (GRCm39) A296S possibly damaging Het
Or51ag1 T A 7: 103,155,765 (GRCm39) R129S probably benign Het
Osbpl11 T C 16: 33,025,205 (GRCm39) Y144H probably damaging Het
Pax5 T C 4: 44,609,729 (GRCm39) Y233C probably damaging Het
Pck1 A G 2: 172,998,906 (GRCm39) N388S probably benign Het
Plcd3 T A 11: 102,971,085 (GRCm39) Q157L probably benign Het
Pnma2 A C 14: 67,153,785 (GRCm39) M70L probably benign Het
Pogk T C 1: 166,235,997 (GRCm39) K35E probably damaging Het
Ptprb T A 10: 116,176,895 (GRCm39) V1227E probably benign Het
Pygm T A 19: 6,441,064 (GRCm39) V450E probably damaging Het
Rb1 T A 14: 73,525,064 (GRCm39) I190F probably damaging Het
Setd2 T A 9: 110,423,673 (GRCm39) Y2243N probably damaging Het
Slc11a2 A T 15: 100,303,687 (GRCm39) L182Q probably damaging Het
Slc45a3 T C 1: 131,905,259 (GRCm39) L94P probably damaging Het
Slc9a4 T C 1: 40,668,421 (GRCm39) F688S probably benign Het
Slit3 A T 11: 35,455,480 (GRCm39) I196F probably damaging Het
Sprn G A 7: 139,733,408 (GRCm39) probably benign Het
Spsb2 A G 6: 124,787,292 (GRCm39) D242G probably benign Het
Srpk2 A G 5: 23,733,017 (GRCm39) I111T probably damaging Het
St8sia4 T A 1: 95,519,537 (GRCm39) Y317F probably benign Het
Stat5a T A 11: 100,774,884 (GRCm39) *798K probably null Het
Sult1c2 C T 17: 54,271,777 (GRCm39) V137M possibly damaging Het
Synj1 T C 16: 90,735,361 (GRCm39) T1531A probably benign Het
Tasor T A 14: 27,193,885 (GRCm39) Y1028* probably null Het
Tax1bp1 A G 6: 52,698,398 (GRCm39) T37A probably damaging Het
Tln1 T C 4: 43,536,311 (GRCm39) T1994A probably damaging Het
Tmco3 A C 8: 13,341,741 (GRCm39) D5A probably benign Het
Tnk1 T A 11: 69,747,532 (GRCm39) N74I possibly damaging Het
Ttc16 A T 2: 32,662,162 (GRCm39) S120T probably damaging Het
Ttn T A 2: 76,774,448 (GRCm39) T2153S probably damaging Het
Ttn A G 2: 76,594,606 (GRCm39) V20480A probably damaging Het
Usp4 T C 9: 108,251,441 (GRCm39) Y539H probably damaging Het
Zar1 A C 5: 72,734,715 (GRCm39) V168G probably damaging Het
Zcchc9 T C 13: 91,953,899 (GRCm39) K119E possibly damaging Het
Zfp251 T C 15: 76,737,863 (GRCm39) N410S possibly damaging Het
Zfp605 A T 5: 110,271,639 (GRCm39) D10V probably damaging Het
Zyg11a A T 4: 108,062,479 (GRCm39) N107K possibly 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
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'- AGGTGGTAGCATGAAGCTCCTTCC -3'
(R):5'- AGCACACAGTGGTGCTAATGCAG -3'

Sequencing Primer
(F):5'- TTCCGAGCGCACTCAATG -3'
(R):5'- TACTGGAACGGTGCAGC -3'
Posted On 2014-05-23