Incidental Mutation 'R7472:Tet1'
ID 581309
Institutional Source Beutler Lab
Gene Symbol Tet1
Ensembl Gene ENSMUSG00000047146
Gene Name tet methylcytosine dioxygenase 1
Synonyms Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228
MMRRC Submission 045546-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7472 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 62640349-62723242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 62649129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 157 (S157A)
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: S1736A

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: S1736A

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: S157A

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134328
Gene: ENSMUSG00000047146
AA Change: S157A

DomainStartEndE-ValueType
Tet_JBP 1 352 1.49e-83 SMART
low complexity region 365 377 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174189
AA Change: S1768A

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: S1768A

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 0.0614 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (99/100)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,545,219 (GRCm39) I78T probably benign Het
4921524J17Rik G A 8: 86,159,438 (GRCm39) probably benign Het
4932438H23Rik T C 16: 90,852,744 (GRCm39) T131A probably benign Het
Acbd6 G T 1: 155,463,213 (GRCm39) E138* probably null Het
Ago3 A G 4: 126,239,310 (GRCm39) V847A probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Als2cl C A 9: 110,727,174 (GRCm39) H913Q probably benign Het
Atf6 A C 1: 170,643,060 (GRCm39) S360R possibly damaging Het
Atm G C 9: 53,359,425 (GRCm39) N2789K possibly damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Bpifa6 A T 2: 153,831,249 (GRCm39) I272F possibly damaging Het
Cabin1 G T 10: 75,494,481 (GRCm39) P1633T probably damaging Het
Camsap2 A G 1: 136,209,131 (GRCm39) V119A probably damaging Het
Ccdc40 A G 11: 119,153,974 (GRCm39) E1082G probably benign Het
Cchcr1 C A 17: 35,839,248 (GRCm39) A479D probably damaging Het
Chpt1 C T 10: 88,312,230 (GRCm39) V349I probably benign Het
Cldn13 A T 5: 134,943,975 (GRCm39) I70K probably damaging Het
Col6a6 T A 9: 105,659,622 (GRCm39) D441V probably damaging Het
Cpne5 G T 17: 29,423,714 (GRCm39) T138K probably benign Het
Creb3l3 A T 10: 80,925,301 (GRCm39) probably null Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Cyp19a1 A G 9: 54,074,277 (GRCm39) Y426H possibly damaging Het
Cyth4 T C 15: 78,490,094 (GRCm39) F72S probably damaging Het
D430041D05Rik G T 2: 104,240,484 (GRCm39) Q9K unknown Het
Dnah1 T A 14: 30,983,547 (GRCm39) I4099F probably damaging Het
Dnah1 T A 14: 31,022,748 (GRCm39) I1130F possibly damaging Het
Dnah12 A G 14: 26,578,592 (GRCm39) K3117R probably benign Het
Dpf3 A T 12: 83,319,159 (GRCm39) S275R probably benign Het
Dst A G 1: 34,257,578 (GRCm39) N2450S probably benign Het
Dync1h1 C T 12: 110,632,109 (GRCm39) R4460W probably damaging Het
Ecm1 A C 3: 95,642,632 (GRCm39) C414G possibly damaging Het
Eef2 G A 10: 81,015,384 (GRCm39) D302N probably benign Het
Egf T C 3: 129,479,912 (GRCm39) D1038G possibly damaging Het
Epm2aip1 T C 9: 111,101,467 (GRCm39) S147P probably damaging Het
Esam C A 9: 37,448,863 (GRCm39) P324T possibly damaging Het
Fbxo36 A G 1: 84,874,301 (GRCm39) D99G probably damaging Het
Fhad1 G A 4: 141,691,937 (GRCm39) R400C probably benign Het
Fhip2a A G 19: 57,357,017 (GRCm39) Y36C probably damaging Het
Fndc3b T C 3: 27,515,893 (GRCm39) T638A probably benign Het
Gba2 T C 4: 43,568,967 (GRCm39) T563A probably benign Het
Gm8180 T A 14: 44,021,094 (GRCm39) N38I possibly damaging Het
Hs3st4 A G 7: 123,996,249 (GRCm39) E305G probably damaging Het
Ireb2 T A 9: 54,791,338 (GRCm39) F191I probably benign Het
Irx3 T G 8: 92,526,625 (GRCm39) T360P probably benign Het
Itpr1 T A 6: 108,380,357 (GRCm39) I1375N probably benign Het
Klrh1 A T 6: 129,752,345 (GRCm39) F57I probably benign Het
Lama4 A T 10: 38,963,369 (GRCm39) I1314F possibly damaging Het
Lamb2 C A 9: 108,363,347 (GRCm39) A842D probably benign Het
Ldlrap1 A G 4: 134,486,307 (GRCm39) Y51H possibly damaging Het
Leo1 A G 9: 75,355,623 (GRCm39) D321G probably damaging Het
Lrrc14b A G 13: 74,511,226 (GRCm39) S285P probably damaging Het
Macf1 A G 4: 123,326,860 (GRCm39) V4881A probably benign Het
Mfsd2b A T 12: 4,916,481 (GRCm39) F333I probably damaging Het
Micall1 T C 15: 79,006,760 (GRCm39) S196P unknown Het
Mrps21 T C 3: 95,770,110 (GRCm39) N73S probably benign Het
Msantd5f5 G A 4: 73,542,736 (GRCm39) G79S probably damaging Het
Msln C T 17: 25,969,708 (GRCm39) V341M possibly damaging Het
Mybpc3 A T 2: 90,962,001 (GRCm39) M840L probably damaging Het
Myo7a A C 7: 97,714,000 (GRCm39) F1613V probably damaging Het
Naprt C T 15: 75,763,607 (GRCm39) probably null Het
Nbr1 T C 11: 101,462,765 (GRCm39) V572A probably damaging Het
Nfkbie A T 17: 45,870,233 (GRCm39) T193S probably damaging Het
Nlrp14 T G 7: 106,789,251 (GRCm39) N672K probably benign Het
Or11l3 A T 11: 58,516,260 (GRCm39) I204N probably damaging Het
Or4b1d A G 2: 89,968,668 (GRCm39) Y272H probably damaging Het
Or52ab2 A G 7: 102,969,656 (GRCm39) T13A Het
Or5b101 T C 19: 13,005,439 (GRCm39) T85A probably benign Het
Or6k14 A T 1: 173,927,299 (GRCm39) I92F probably damaging Het
Or8b49 A T 9: 38,506,200 (GRCm39) I228L probably benign Het
Oscar T C 7: 3,614,149 (GRCm39) T197A possibly damaging Het
P3h3 C A 6: 124,827,594 (GRCm39) A481S possibly damaging Het
Pcdh8 T C 14: 80,008,691 (GRCm39) probably null Het
Pcsk9 A T 4: 106,316,094 (GRCm39) H116Q probably benign Het
Ptcd1 A G 5: 145,091,540 (GRCm39) F520L possibly damaging Het
Rapgef2 T C 3: 78,976,580 (GRCm39) T1261A probably benign Het
Ribc2 T A 15: 85,019,446 (GRCm39) M76K probably benign Het
Sin3b A G 8: 73,479,853 (GRCm39) E853G probably damaging Het
Slit2 A G 5: 48,414,180 (GRCm39) D940G probably damaging Het
Smarcb1 T A 10: 75,733,373 (GRCm39) N342Y probably damaging Het
Smurf2 A T 11: 106,726,921 (GRCm39) I469N probably damaging Het
Spata31h1 T C 10: 82,119,421 (GRCm39) I4530V probably benign Het
Spta1 T C 1: 174,074,065 (GRCm39) Y2335H probably damaging Het
Suz12 C T 11: 79,915,801 (GRCm39) R425C probably benign Het
Synpo G A 18: 60,762,895 (GRCm39) A4V probably benign Het
Themis A G 10: 28,637,415 (GRCm39) E173G possibly damaging Het
Timmdc1 A T 16: 38,325,780 (GRCm39) L197* probably null Het
Tmem63c T C 12: 87,115,932 (GRCm39) F191S possibly damaging Het
Tnn G A 1: 159,937,917 (GRCm39) T1200I probably benign Het
Traf6 A G 2: 101,527,537 (GRCm39) H429R probably benign Het
Trem3 T C 17: 48,556,873 (GRCm39) S115P probably benign Het
Trip11 A T 12: 101,851,639 (GRCm39) N808K probably benign Het
Trub2 A T 2: 29,673,385 (GRCm39) V106E probably damaging Het
Ugcg A G 4: 59,217,156 (GRCm39) I227V probably benign Het
Vat1l G A 8: 114,963,539 (GRCm39) probably null Het
Vmn1r184 T C 7: 25,966,824 (GRCm39) M190T possibly damaging Het
Vmn2r3 T C 3: 64,182,953 (GRCm39) T249A probably benign Het
Zfp729b A C 13: 67,742,002 (GRCm39) S88A probably benign Het
Zfp995 T C 17: 22,099,181 (GRCm39) Y351C probably 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
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
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'- CTCAGCATGAACGGGAGAATC -3'
(R):5'- GTGCCAAATAGCTTCTGTGG -3'

Sequencing Primer
(F):5'- TGAGGATGAGCAGCCACCTC -3'
(R):5'- CAAATAGCTTCTGTGGTTGTTTTCAC -3'
Posted On 2019-10-17