Incidental Mutation 'R7849:Tet1'
ID 606823
Institutional Source Beutler Lab
Gene Symbol Tet1
Ensembl Gene ENSMUSG00000047146
Gene Name tet methylcytosine dioxygenase 1
Synonyms Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7849 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 62640349-62723242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62655252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1556 (H1556Q)
Ref Sequence ENSEMBL: ENSMUSP00000133279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050826] [ENSMUST00000174121] [ENSMUST00000174189]
AlphaFold Q3URK3
Predicted Effect probably benign
Transcript: ENSMUST00000050826
AA Change: H1556Q

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: H1556Q

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 probably benign
Transcript: ENSMUST00000174121
SMART Domains Protein: ENSMUSP00000134328
Gene: ENSMUSG00000047146

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: H1556Q

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: H1556Q

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: 98.7%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T C 1: 89,558,141 (GRCm39) V143A probably damaging Het
Agmo A G 12: 37,292,044 (GRCm39) R2G probably benign Het
Alms1 A T 6: 85,598,479 (GRCm39) I1102L possibly damaging Het
Ankrd13a T C 5: 114,929,343 (GRCm39) I140T possibly damaging Het
Arhgef10l T A 4: 140,311,245 (GRCm39) probably null Het
Atxn2l A T 7: 126,092,345 (GRCm39) H967Q possibly damaging Het
B3galnt2 A T 13: 14,169,077 (GRCm39) N370I probably benign Het
Bltp1 T A 3: 37,080,477 (GRCm39) I325N Het
Cacna1e C T 1: 154,509,464 (GRCm39) D264N probably damaging Het
Ccdc112 A T 18: 46,429,390 (GRCm39) Y103N probably benign Het
Ccdc68 A C 18: 70,080,246 (GRCm39) E197A probably damaging Het
Cdr1 AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC X: 60,228,130 (GRCm39) probably benign Het
Cntn3 T C 6: 102,242,392 (GRCm39) M418V probably benign Het
Cpne4 T A 9: 104,563,718 (GRCm39) C32S probably damaging Het
Csf2rb2 A T 15: 78,168,621 (GRCm39) S845T probably benign Het
Ctnnd2 T G 15: 31,027,733 (GRCm39) V1219G probably damaging Het
Cyp4f14 G A 17: 33,128,325 (GRCm39) A230V probably benign Het
Cyth1 TGGGCAA T 11: 118,074,749 (GRCm39) probably null Het
Dmxl1 T A 18: 50,094,214 (GRCm39) C2897S probably benign Het
Elavl2 T A 4: 91,260,280 (GRCm39) probably benign Het
Elp1 A T 4: 56,758,968 (GRCm39) S1191T possibly damaging Het
Fam135a T C 1: 24,083,331 (GRCm39) E298G probably damaging Het
Fbn1 A T 2: 125,151,405 (GRCm39) I2534N probably damaging Het
Fibin A G 2: 110,192,825 (GRCm39) S106P probably damaging Het
Fndc3a C T 14: 72,802,100 (GRCm39) V568M probably benign Het
Frem2 A G 3: 53,479,795 (GRCm39) F1966S probably damaging Het
Gata4 T G 14: 63,442,174 (GRCm39) E216A possibly damaging Het
Gmps T A 3: 63,922,984 (GRCm39) V649E probably benign Het
Golga4 A T 9: 118,388,379 (GRCm39) N1834Y possibly damaging Het
Gpr89 A T 3: 96,778,806 (GRCm39) Y422* probably null Het
Gzmc A T 14: 56,469,829 (GRCm39) F157Y probably benign Het
Hdhd2 A G 18: 77,052,962 (GRCm39) D204G probably damaging Het
Hspa4 T G 11: 53,171,530 (GRCm39) T225P possibly damaging Het
Klhl30 T A 1: 91,287,059 (GRCm39) D448E probably benign Het
Kptn A G 7: 15,853,966 (GRCm39) Y28C probably damaging Het
Krt10 A T 11: 99,278,432 (GRCm39) N242K probably damaging Het
Krt6b A T 15: 101,587,009 (GRCm39) N254K probably damaging Het
Lama5 G T 2: 179,843,605 (GRCm39) D447E probably damaging Het
Lgr6 T C 1: 134,915,419 (GRCm39) Y720C probably damaging Het
Macf1 G C 4: 123,301,392 (GRCm39) P1037A probably benign Het
Map3k19 C T 1: 127,751,383 (GRCm39) G656D probably benign Het
Mroh7 A C 4: 106,578,287 (GRCm39) N130K probably benign Het
Muc16 T C 9: 18,551,801 (GRCm39) T4831A probably benign Het
Nfkb1 A T 3: 135,291,173 (GRCm39) L533H Het
Oaf G A 9: 43,134,077 (GRCm39) R215C probably damaging Het
Or4x11 A G 2: 89,867,626 (GRCm39) Y121C probably damaging Het
Or51k1 C A 7: 103,661,510 (GRCm39) R133L possibly damaging Het
Or5m3b G A 2: 85,871,949 (GRCm39) V97I probably benign Het
Or8a1 A G 9: 37,642,003 (GRCm39) I92T probably damaging Het
Or8g2b A G 9: 39,751,618 (GRCm39) D296G possibly damaging Het
Otub1 T C 19: 7,177,425 (GRCm39) D74G probably damaging Het
Oxct2b A G 4: 123,010,680 (GRCm39) E200G probably damaging Het
Pcdh1 T C 18: 38,322,662 (GRCm39) D1057G probably benign Het
Pkd1 T A 17: 24,805,174 (GRCm39) V3242E probably damaging Het
Pkd1l3 CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA 8: 110,350,420 (GRCm39) probably benign Het
Pla2g4e T A 2: 120,015,803 (GRCm39) D247V probably benign Het
Pole T A 5: 110,480,414 (GRCm39) M1995K probably benign Het
Ppargc1a T C 5: 51,705,855 (GRCm39) E76G probably benign Het
Pten G T 19: 32,777,396 (GRCm39) R130L probably damaging Het
Ptprj A T 2: 90,274,804 (GRCm39) V1186D probably damaging Het
Rab4a T A 8: 124,532,876 (GRCm39) M1K probably null Het
Rapgef3 C A 15: 97,656,271 (GRCm39) probably null Het
Rarb C A 14: 16,548,473 (GRCm38) V83F probably damaging Het
Rgs22 A T 15: 36,099,858 (GRCm39) F410I probably damaging Het
Rhpn2 A C 7: 35,080,912 (GRCm39) E459A probably benign Het
Rims4 A T 2: 163,705,974 (GRCm39) L220Q probably damaging Het
Robo2 T C 16: 73,770,132 (GRCm39) T531A possibly damaging Het
Sbf2 T C 7: 109,971,717 (GRCm39) H839R probably damaging Het
Setbp1 T C 18: 78,900,068 (GRCm39) R1200G probably benign Het
Slc12a8 C A 16: 33,444,930 (GRCm39) P275T probably damaging Het
Slc23a1 G T 18: 35,757,554 (GRCm39) T239N probably benign Het
Slc37a3 T A 6: 39,341,517 (GRCm39) T40S possibly damaging Het
Speer4c1 T C 5: 15,915,925 (GRCm39) probably null Het
Tfcp2l1 T A 1: 118,603,325 (GRCm39) D454E probably damaging Het
Timd6 T A 11: 46,468,058 (GRCm39) I44K not run Het
Tmem123 A T 9: 7,790,890 (GRCm39) M64L probably benign Het
Tmem62 A T 2: 120,814,853 (GRCm39) H172L probably benign Het
Trim15 T G 17: 37,177,764 (GRCm39) Y77S probably benign Het
Trim37 T A 11: 87,092,270 (GRCm39) V693E possibly damaging Het
Trim65 A G 11: 116,017,082 (GRCm39) L460S probably damaging Het
Ttc39a T C 4: 109,279,687 (GRCm39) V109A probably benign Het
Ttc7 A G 17: 87,600,374 (GRCm39) M163V probably null Het
Vps13b T C 15: 35,423,378 (GRCm39) S233P probably damaging Het
Vwf T C 6: 125,633,766 (GRCm39) L2084P Het
Wasl A G 6: 24,633,922 (GRCm39) V114A possibly damaging Het
Wdr5 A G 2: 27,409,463 (GRCm39) S62G probably damaging Het
Wfdc11 G T 2: 164,507,445 (GRCm39) S4* probably null Het
Wfikkn2 C A 11: 94,129,810 (GRCm39) M110I probably benign Het
Wiz T G 17: 32,576,760 (GRCm39) E588A probably benign Het
Xylt1 A G 7: 117,255,891 (GRCm39) H821R probably benign Het
Zbtb7c A T 18: 76,278,772 (GRCm39) H410L probably benign Het
Zc3h18 T A 8: 123,110,710 (GRCm39) D186E probably damaging Het
Zfp687 G T 3: 94,917,673 (GRCm39) L700I possibly damaging Het
Zmym2 T A 14: 57,184,020 (GRCm39) M994K 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
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
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'- TGGTTGCCCATAAAACCCTAAG -3'
(R):5'- AGCCTTGTCTAATGTCCTGC -3'

Sequencing Primer
(F):5'- ATTAATGGTTCCCTCTGGTGC -3'
(R):5'- GCTGTCCATCTTCCAGGCG -3'
Posted On 2019-12-20