Incidental Mutation 'R7223:Tet1'
ID 561952
Institutional Source Beutler Lab
Gene Symbol Tet1
Ensembl Gene ENSMUSG00000047146
Gene Name tet methylcytosine dioxygenase 1
Synonyms Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228
MMRRC Submission 045295-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7223 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 62640349-62723242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62649450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 87 (N87D)
Ref Sequence ENSEMBL: ENSMUSP00000134328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050826] [ENSMUST00000174121] [ENSMUST00000174189]
AlphaFold Q3URK3
Predicted Effect possibly damaging
Transcript: ENSMUST00000050826
AA Change: N1684D

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: N1684D

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
SMART Domains Protein: ENSMUSP00000133706
Gene: ENSMUSG00000047146
AA Change: N86D

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: N87D

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134328
Gene: ENSMUSG00000047146
AA Change: N87D

DomainStartEndE-ValueType
Tet_JBP 1 352 1.49e-83 SMART
low complexity region 365 377 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174189
AA Change: N1716D

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: N1716D

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: 99.6%
  • 20x: 98.8%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,104,487 (GRCm39) V733E probably benign Het
Adam34 A T 8: 44,105,041 (GRCm39) N201K probably benign Het
Aldh3b2 A C 19: 4,029,592 (GRCm39) S322R probably damaging Het
Anpep A T 7: 79,475,058 (GRCm39) L914Q probably damaging Het
Arhgap30 T C 1: 171,235,139 (GRCm39) F535S probably damaging Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Baz2a G T 10: 127,948,475 (GRCm39) G252V probably damaging Het
Brinp3 T A 1: 146,776,812 (GRCm39) S420T possibly damaging Het
Carmil3 T C 14: 55,733,695 (GRCm39) F359S possibly damaging Het
Ccdc124 A T 8: 71,321,170 (GRCm39) L190Q probably damaging Het
Ccr6 T C 17: 8,474,972 (GRCm39) V59A probably damaging Het
Ccr8 T A 9: 119,923,683 (GRCm39) I266N probably damaging Het
Cdh23 T A 10: 60,167,596 (GRCm39) E1798V probably damaging Het
Cdk5rap2 T C 4: 70,153,684 (GRCm39) N1713S probably benign Het
Cep19 T A 16: 31,922,833 (GRCm39) I33N probably damaging Het
Cers3 A T 7: 66,433,163 (GRCm39) Y196F probably damaging Het
Cidea T C 18: 67,499,491 (GRCm39) I126T probably damaging Het
Copg2 A T 6: 30,789,689 (GRCm39) Y546* probably null Het
Cul3 A T 1: 80,264,717 (GRCm39) V261E probably benign Het
Cyp2g1 A T 7: 26,514,057 (GRCm39) D221V probably damaging Het
Cyp8b1 G A 9: 121,744,163 (GRCm39) H390Y probably damaging Het
Daam1 T C 12: 72,035,717 (GRCm39) F971L probably damaging Het
Dnajc24 G A 2: 105,832,311 (GRCm39) S24L possibly damaging Het
Dpysl3 T C 18: 43,571,107 (GRCm39) S56G probably benign Het
Esp1 A G 17: 41,041,972 (GRCm39) D88G probably benign Het
Fam171b A G 2: 83,708,574 (GRCm39) T359A probably damaging Het
Fam186b T C 15: 99,177,718 (GRCm39) E536G possibly damaging Het
Fbxo3 T C 2: 103,873,357 (GRCm39) V156A possibly damaging Het
Gls2 C A 10: 128,035,063 (GRCm39) H65Q probably benign Het
Gp2 A G 7: 119,050,721 (GRCm39) probably null Het
Gpcpd1 T A 2: 132,375,976 (GRCm39) K435I probably benign Het
Gpx6 T A 13: 21,501,840 (GRCm39) probably null Het
Hps3 A T 3: 20,084,583 (GRCm39) S202T probably benign Het
Htr1d T A 4: 136,170,812 (GRCm39) L347H probably damaging Het
Igfals T C 17: 25,100,208 (GRCm39) L433P probably damaging Het
Ilvbl C T 10: 78,419,530 (GRCm39) H537Y probably benign Het
Iqgap2 A T 13: 95,765,480 (GRCm39) M1530K probably damaging Het
Jarid2 A G 13: 45,049,798 (GRCm39) T247A possibly damaging Het
L3hypdh C T 12: 72,120,783 (GRCm39) V323I possibly damaging Het
Lama3 C T 18: 12,715,665 (GRCm39) T1707I possibly damaging Het
Map6 G T 7: 98,917,232 (GRCm39) A2S probably damaging Het
Mfap3 T A 11: 57,421,066 (GRCm39) I349K probably benign Het
Mybl2 A G 2: 162,914,625 (GRCm39) T248A probably benign Het
N6amt1 A G 16: 87,159,548 (GRCm39) *151W probably null Het
Nhlrc1 A G 13: 47,167,684 (GRCm39) V191A probably benign Het
Nkx2-5 T C 17: 27,058,594 (GRCm39) E120G possibly damaging Het
Or2y10 T A 11: 49,454,925 (GRCm39) M59K probably damaging Het
Or52r1b C A 7: 102,690,839 (GRCm39) T46N possibly damaging Het
Or8b41 T C 9: 38,055,049 (GRCm39) V201A probably benign Het
Or8k28 T A 2: 86,286,211 (GRCm39) I135F possibly damaging Het
Pcdha8 T G 18: 37,126,201 (GRCm39) L228V probably benign Het
Pcsk2 A G 2: 143,532,253 (GRCm39) T134A possibly damaging Het
Phldb3 G A 7: 24,324,078 (GRCm39) R484Q probably benign Het
Pipox A G 11: 77,772,012 (GRCm39) S371P probably damaging Het
Plekhg1 T C 10: 3,823,343 (GRCm39) S159P Het
Psme4 C T 11: 30,824,226 (GRCm39) P1737S probably benign Het
Pygm G A 19: 6,438,893 (GRCm39) D328N probably benign Het
Rabgef1 A T 5: 130,219,801 (GRCm39) E88V probably benign Het
Rims2 G T 15: 39,300,428 (GRCm39) R245L probably benign Het
Slc38a4 T C 15: 96,908,226 (GRCm39) I172V probably damaging Het
Slc4a10 T A 2: 62,099,009 (GRCm39) Y586N probably damaging Het
Snap91 C T 9: 86,761,610 (GRCm39) probably benign Het
Sorcs1 C T 19: 50,178,480 (GRCm39) V881I probably benign Het
Spef2 A T 15: 9,601,726 (GRCm39) V1512E unknown Het
Sufu T C 19: 46,441,716 (GRCm39) I292T possibly damaging Het
Tmem108 T C 9: 103,376,733 (GRCm39) T239A not run Het
Tmem121 A T 12: 113,152,114 (GRCm39) K111* probably null Het
Tpp2 T A 1: 44,008,048 (GRCm39) D417E probably damaging Het
Tpr G A 1: 150,315,007 (GRCm39) E2025K possibly damaging Het
Trappc3 C T 4: 126,168,945 (GRCm39) A145V possibly damaging Het
Ttn T C 2: 76,721,325 (GRCm39) D6754G probably null Het
Unc13c T A 9: 73,536,473 (GRCm39) M1627L probably benign Het
Ush2a A G 1: 188,542,414 (GRCm39) I3327V probably benign Het
Vmn1r74 C T 7: 11,580,894 (GRCm39) Q65* probably null Het
Wdr18 G A 10: 79,796,202 (GRCm39) R69H probably damaging Het
Zbed5 G T 5: 129,929,279 (GRCm39) D132Y probably damaging Het
Zfp644 A T 5: 106,785,448 (GRCm39) Y366* probably null Het
Zfyve26 T C 12: 79,292,945 (GRCm39) N2068S probably damaging Het
Zic2 T C 14: 122,713,503 (GRCm39) F139S probably damaging Het
Zmynd11 T C 13: 9,760,198 (GRCm39) Q141R probably benign Het
Zrsr2-ps1 A G 11: 22,923,388 (GRCm39) E54G probably benign Het
Zscan10 G A 17: 23,828,456 (GRCm39) D333N 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
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
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'- TCACTGGTAGTTCATAGACACAAAG -3'
(R):5'- AGAACAGGCCTTATTCCTCTCC -3'

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