Incidental Mutation 'R4687:Tet1'
ID 353774
Institutional Source Beutler Lab
Gene Symbol Tet1
Ensembl Gene ENSMUSG00000047146
Gene Name tet methylcytosine dioxygenase 1
Synonyms BB001228, 2510010B09Rik, D10Ertd17e, Cxxc6
MMRRC Submission 041938-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4687 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62804570-62908996 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62838791 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 1169 (N1169Y)
Ref Sequence ENSEMBL: ENSMUSP00000059527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050826] [ENSMUST00000174189]
AlphaFold Q3URK3
Predicted Effect probably benign
Transcript: ENSMUST00000050826
AA Change: N1169Y

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: N1169Y

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 noncoding transcript
Transcript: ENSMUST00000173081
Predicted Effect probably benign
Transcript: ENSMUST00000174189
AA Change: N1169Y

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: N1169Y

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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
1700010I14Rik T A 17: 8,992,153 (GRCm38) Y45N probably damaging Het
Agbl3 T C 6: 34,798,326 (GRCm38) V189A probably damaging Het
Akip1 C A 7: 109,704,986 (GRCm38) S90* probably null Het
Amn A T 12: 111,276,068 (GRCm38) D439V probably benign Het
Arhgap17 T A 7: 123,321,603 (GRCm38) D149V probably damaging Het
Atp6v0a4 A T 6: 38,092,465 (GRCm38) I76N possibly damaging Het
Atp6v1h A T 1: 5,133,085 (GRCm38) N291I probably damaging Het
Baiap2l2 G T 15: 79,259,253 (GRCm38) P462T probably damaging Het
Bves C T 10: 45,354,840 (GRCm38) probably null Het
Cabp7 T A 11: 4,739,265 (GRCm38) K127* probably null Het
Cacna1h A G 17: 25,393,910 (GRCm38) V313A possibly damaging Het
Camkk2 T C 5: 122,753,724 (GRCm38) H245R probably damaging Het
Celsr1 T A 15: 85,932,460 (GRCm38) S1761C possibly damaging Het
Cfap46 T C 7: 139,627,456 (GRCm38) E1849G possibly damaging Het
Ciz1 T C 2: 32,367,465 (GRCm38) L174P probably damaging Het
Crim1 G T 17: 78,303,025 (GRCm38) C303F probably damaging Het
Cyp26c1 A G 19: 37,692,937 (GRCm38) Q396R probably damaging Het
Dnajc7 G A 11: 100,599,300 (GRCm38) P43L probably damaging Het
Dpf2 T C 19: 5,907,012 (GRCm38) H16R probably damaging Het
Dsp A G 13: 38,191,619 (GRCm38) T1127A probably damaging Het
Dst T C 1: 34,201,123 (GRCm38) L1525P probably damaging Het
Ehf T A 2: 103,267,126 (GRCm38) D192V probably damaging Het
Frem1 G T 4: 83,020,631 (GRCm38) N71K probably damaging Het
Furin T A 7: 80,393,447 (GRCm38) T339S probably benign Het
Gad1 T A 2: 70,600,720 (GRCm38) I569N possibly damaging Het
Gfi1 T C 5: 107,723,810 (GRCm38) K10R probably damaging Het
Gm20775 T A Y: 10,641,258 (GRCm38) noncoding transcript Homo
Gpn3 A C 5: 122,378,575 (GRCm38) D89A possibly damaging Het
Gpr18 T A 14: 121,911,678 (GRCm38) R312* probably null Het
Gsap T C 5: 21,246,971 (GRCm38) probably benign Het
H2-Ab1 C A 17: 34,264,809 (GRCm38) T48K probably damaging Het
Hmcn2 A T 2: 31,438,285 (GRCm38) N4326I probably benign Het
Igkv4-51 A C 6: 69,681,730 (GRCm38) probably benign Het
Insr T C 8: 3,161,709 (GRCm38) H1104R probably benign Het
Ipo13 A T 4: 117,901,576 (GRCm38) N697K probably benign Het
Iqcm T G 8: 75,762,989 (GRCm38) F362V probably damaging Het
Irak4 T C 15: 94,566,823 (GRCm38) S425P probably damaging Het
Jakmip2 T C 18: 43,577,412 (GRCm38) E242G possibly damaging Het
Kdm4a T C 4: 118,144,083 (GRCm38) K829R probably damaging Het
Kdr T C 5: 75,968,792 (GRCm38) N145S possibly damaging Het
Klra9 A T 6: 130,185,517 (GRCm38) D185E probably benign Het
Lcn12 T C 2: 25,493,321 (GRCm38) N15S probably benign Het
Mei4 T A 9: 81,927,317 (GRCm38) M151K probably damaging Het
Mmp3 T A 9: 7,451,223 (GRCm38) S320T probably benign Het
Mrps5 C G 2: 127,590,770 (GRCm38) A37G probably benign Het
Mttp A G 3: 138,092,735 (GRCm38) I800T possibly damaging Het
Nags A T 11: 102,148,196 (GRCm38) Q451L probably damaging Het
Nbea T C 3: 56,058,065 (GRCm38) T476A probably damaging Het
Ndufb10 T C 17: 24,722,419 (GRCm38) E145G possibly damaging Het
Neb T G 2: 52,304,035 (GRCm38) S660R possibly damaging Het
Nppb A G 4: 147,986,296 (GRCm38) K43E probably benign Het
Nup188 A T 2: 30,330,633 (GRCm38) Q906L probably benign Het
Olfr1259 T C 2: 89,943,869 (GRCm38) D82G probably damaging Het
Olfr1413 T C 1: 92,573,330 (GRCm38) I53T possibly damaging Het
Olfr370 T A 8: 83,541,860 (GRCm38) S239T probably damaging Het
Olfr895 C A 9: 38,269,414 (GRCm38) N292K probably damaging Het
Ovch2 T A 7: 107,796,548 (GRCm38) I88F possibly damaging Het
Palm3 A G 8: 84,029,935 (GRCm38) E692G probably benign Het
Pcsk6 T C 7: 65,983,753 (GRCm38) F578L probably damaging Het
Piezo2 A C 18: 63,069,963 (GRCm38) D1535E probably damaging Het
Ppp1r15b T C 1: 133,132,135 (GRCm38) V130A probably benign Het
Proca1 T C 11: 78,204,898 (GRCm38) Y32H probably damaging Het
Prtg T A 9: 72,890,798 (GRCm38) V682E probably damaging Het
Pyroxd1 A T 6: 142,361,868 (GRCm38) M455L probably benign Het
Rasa1 T C 13: 85,226,635 (GRCm38) D739G possibly damaging Het
Scn3a T C 2: 65,464,730 (GRCm38) I1550V possibly damaging Het
Sepsecs T C 5: 52,643,871 (GRCm38) D483G probably benign Het
Setd7 T C 3: 51,550,355 (GRCm38) D17G probably damaging Het
Sipa1l2 C T 8: 125,491,245 (GRCm38) C451Y probably damaging Het
Slc31a1 A G 4: 62,388,702 (GRCm38) Y165C probably damaging Het
Smg5 T C 3: 88,342,469 (GRCm38) F68L possibly damaging Het
Sptbn5 A G 2: 120,077,208 (GRCm38) probably benign Het
Stk3 A G 15: 35,114,565 (GRCm38) I65T probably damaging Het
Tas2r115 C T 6: 132,737,284 (GRCm38) A235T possibly damaging Het
Tenm2 C T 11: 36,049,097 (GRCm38) A1400T probably benign Het
Treml2 T A 17: 48,309,397 (GRCm38) probably null Het
Tspan11 A G 6: 127,938,235 (GRCm38) E104G probably damaging Het
Wdtc1 G A 4: 133,296,431 (GRCm38) A543V probably damaging Het
Zfp148 T A 16: 33,496,819 (GRCm38) D578E probably damaging Het
Zfp735 A T 11: 73,711,856 (GRCm38) N542I probably damaging Het
Zfp735 A T 11: 73,711,855 (GRCm38) N542Y probably damaging Het
Zfp869 T A 8: 69,708,143 (GRCm38) E65D probably benign Het
Other mutations in Tet1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Tet1 APN 10 62,814,497 (GRCm38) missense probably damaging 1.00
IGL01079:Tet1 APN 10 62,879,473 (GRCm38) missense probably damaging 0.99
IGL01109:Tet1 APN 10 62,879,774 (GRCm38) missense probably benign
IGL01634:Tet1 APN 10 62,878,588 (GRCm38) missense possibly damaging 0.94
IGL02003:Tet1 APN 10 62,816,400 (GRCm38) missense possibly damaging 0.92
IGL02081:Tet1 APN 10 62,813,818 (GRCm38) missense probably damaging 1.00
IGL02100:Tet1 APN 10 62,812,728 (GRCm38) missense possibly damaging 0.92
IGL02228:Tet1 APN 10 62,813,734 (GRCm38) missense probably damaging 0.99
IGL02524:Tet1 APN 10 62,878,646 (GRCm38) missense probably damaging 1.00
IGL02539:Tet1 APN 10 62,813,019 (GRCm38) missense possibly damaging 0.60
IGL02608:Tet1 APN 10 62,839,087 (GRCm38) missense probably damaging 1.00
IGL02608:Tet1 APN 10 62,879,609 (GRCm38) missense possibly damaging 0.82
IGL02702:Tet1 APN 10 62,879,752 (GRCm38) missense possibly damaging 0.83
K7371:Tet1 UTSW 10 62,879,176 (GRCm38) missense probably benign
R0166:Tet1 UTSW 10 62,840,279 (GRCm38) missense probably benign 0.05
R0371:Tet1 UTSW 10 62,878,399 (GRCm38) missense probably damaging 0.97
R0373:Tet1 UTSW 10 62,878,209 (GRCm38) nonsense probably null
R0391:Tet1 UTSW 10 62,814,546 (GRCm38) splice site probably null
R0445:Tet1 UTSW 10 62,879,941 (GRCm38) missense probably benign 0.08
R1016:Tet1 UTSW 10 62,879,950 (GRCm38) missense probably benign
R1344:Tet1 UTSW 10 62,814,521 (GRCm38) missense probably damaging 1.00
R1546:Tet1 UTSW 10 62,812,910 (GRCm38) missense probably damaging 1.00
R1651:Tet1 UTSW 10 62,879,674 (GRCm38) missense probably damaging 1.00
R1725:Tet1 UTSW 10 62,814,477 (GRCm38) missense probably damaging 1.00
R1752:Tet1 UTSW 10 62,812,989 (GRCm38) missense probably damaging 0.99
R1834:Tet1 UTSW 10 62,813,665 (GRCm38) missense probably damaging 0.99
R1964:Tet1 UTSW 10 62,812,947 (GRCm38) missense possibly damaging 0.86
R2239:Tet1 UTSW 10 62,879,734 (GRCm38) missense probably benign 0.01
R2962:Tet1 UTSW 10 62,814,544 (GRCm38) nonsense probably null
R3084:Tet1 UTSW 10 62,879,621 (GRCm38) missense probably benign 0.34
R3086:Tet1 UTSW 10 62,879,621 (GRCm38) missense probably benign 0.34
R3972:Tet1 UTSW 10 62,813,726 (GRCm38) missense probably damaging 1.00
R4622:Tet1 UTSW 10 62,819,474 (GRCm38) missense possibly damaging 0.92
R4674:Tet1 UTSW 10 62,838,848 (GRCm38) missense probably damaging 0.97
R4718:Tet1 UTSW 10 62,813,812 (GRCm38) missense probably damaging 0.96
R4801:Tet1 UTSW 10 62,822,663 (GRCm38) missense probably damaging 0.99
R4802:Tet1 UTSW 10 62,822,663 (GRCm38) missense probably damaging 0.99
R4903:Tet1 UTSW 10 62,822,658 (GRCm38) missense probably damaging 1.00
R5153:Tet1 UTSW 10 62,878,578 (GRCm38) missense possibly damaging 0.85
R5193:Tet1 UTSW 10 62,838,247 (GRCm38) missense probably benign 0.22
R5225:Tet1 UTSW 10 62,838,671 (GRCm38) missense probably damaging 1.00
R5437:Tet1 UTSW 10 62,814,451 (GRCm38) missense probably benign 0.01
R5465:Tet1 UTSW 10 62,839,777 (GRCm38) missense probably benign
R5535:Tet1 UTSW 10 62,832,907 (GRCm38) missense probably damaging 1.00
R5586:Tet1 UTSW 10 62,878,294 (GRCm38) missense probably damaging 1.00
R5763:Tet1 UTSW 10 62,840,068 (GRCm38) missense probably damaging 1.00
R5788:Tet1 UTSW 10 62,839,958 (GRCm38) missense possibly damaging 0.70
R5818:Tet1 UTSW 10 62,816,408 (GRCm38) missense possibly damaging 0.71
R5860:Tet1 UTSW 10 62,812,620 (GRCm38) splice site probably null
R5975:Tet1 UTSW 10 62,879,773 (GRCm38) missense probably benign 0.37
R6041:Tet1 UTSW 10 62,813,373 (GRCm38) missense probably damaging 0.98
R6092:Tet1 UTSW 10 62,813,715 (GRCm38) missense probably benign 0.10
R6132:Tet1 UTSW 10 62,813,300 (GRCm38) missense probably damaging 0.99
R6157:Tet1 UTSW 10 62,839,970 (GRCm38) missense probably damaging 0.98
R6520:Tet1 UTSW 10 62,880,013 (GRCm38) start codon destroyed probably null 0.53
R7210:Tet1 UTSW 10 62,814,501 (GRCm38) missense probably null 0.95
R7223:Tet1 UTSW 10 62,813,671 (GRCm38) missense possibly damaging 0.95
R7255:Tet1 UTSW 10 62,822,636 (GRCm38) missense probably benign 0.15
R7323:Tet1 UTSW 10 62,880,039 (GRCm38) start gained probably benign
R7472:Tet1 UTSW 10 62,813,350 (GRCm38) missense possibly damaging 0.84
R7507:Tet1 UTSW 10 62,832,892 (GRCm38) critical splice donor site probably null
R7522:Tet1 UTSW 10 62,818,983 (GRCm38) missense possibly damaging 0.82
R7849:Tet1 UTSW 10 62,819,473 (GRCm38) missense possibly damaging 0.83
R7879:Tet1 UTSW 10 62,879,046 (GRCm38) missense probably benign 0.03
R8073:Tet1 UTSW 10 62,813,353 (GRCm38) missense probably damaging 0.98
R8098:Tet1 UTSW 10 62,879,080 (GRCm38) missense probably damaging 1.00
R8147:Tet1 UTSW 10 62,878,807 (GRCm38) missense probably benign 0.01
R8355:Tet1 UTSW 10 62,816,450 (GRCm38) missense possibly damaging 0.89
R8545:Tet1 UTSW 10 62,812,939 (GRCm38) missense probably damaging 1.00
R8556:Tet1 UTSW 10 62,840,206 (GRCm38) missense probably benign 0.37
R8936:Tet1 UTSW 10 62,840,284 (GRCm38) nonsense probably null
R9173:Tet1 UTSW 10 62,840,286 (GRCm38) missense probably benign
R9414:Tet1 UTSW 10 62,839,156 (GRCm38) missense probably benign 0.01
R9584:Tet1 UTSW 10 62,819,527 (GRCm38) missense probably damaging 1.00
Z1177:Tet1 UTSW 10 62,818,985 (GRCm38) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- AATGTCTGCCCACCGGATTC -3'
(R):5'- AGTGTACCATCAGCAAAGCC -3'

Sequencing Primer
(F):5'- CCACCGGATTCTGTCTTGAATTGG -3'
(R):5'- GTGTACCATCAGCAAAGCCAAAGAAG -3'
Posted On 2015-10-21