Incidental Mutation 'R7223:Tet1'
ID 561952
Institutional Source Beutler Lab
Gene Symbol Tet1
Ensembl Gene ENSMUSG00000047146
Gene Name tet methylcytosine dioxygenase 1
Synonyms BB001228, 2510010B09Rik, D10Ertd17e, Cxxc6
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 62804570-62908996 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62813671 bp (GRCm38)
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: 69,274,143 (GRCm38) V733E probably benign Het
Adam34 A T 8: 43,652,004 (GRCm38) N201K probably benign Het
Aldh3b2 A C 19: 3,979,592 (GRCm38) S322R probably damaging Het
Anpep A T 7: 79,825,310 (GRCm38) L914Q probably damaging Het
Arhgap30 T C 1: 171,407,571 (GRCm38) F535S probably damaging Het
Baiap3 G A 17: 25,243,840 (GRCm38) R1075C probably benign Het
Baz2a G T 10: 128,112,606 (GRCm38) G252V probably damaging Het
Brinp3 T A 1: 146,901,074 (GRCm38) S420T possibly damaging Het
Carmil3 T C 14: 55,496,238 (GRCm38) F359S possibly damaging Het
Ccdc124 A T 8: 70,868,526 (GRCm38) L190Q probably damaging Het
Ccr6 T C 17: 8,256,140 (GRCm38) V59A probably damaging Het
Ccr8 T A 9: 120,094,617 (GRCm38) I266N probably damaging Het
Cdh23 T A 10: 60,331,817 (GRCm38) E1798V probably damaging Het
Cdk5rap2 T C 4: 70,235,447 (GRCm38) N1713S probably benign Het
Cep19 T A 16: 32,104,015 (GRCm38) I33N probably damaging Het
Cers3 A T 7: 66,783,415 (GRCm38) Y196F probably damaging Het
Cidea T C 18: 67,366,421 (GRCm38) I126T probably damaging Het
Copg2 A T 6: 30,812,754 (GRCm38) Y546* probably null Het
Cul3 A T 1: 80,287,000 (GRCm38) V261E probably benign Het
Cyp2g1 A T 7: 26,814,632 (GRCm38) D221V probably damaging Het
Cyp8b1 G A 9: 121,915,097 (GRCm38) H390Y probably damaging Het
Daam1 T C 12: 71,988,943 (GRCm38) F971L probably damaging Het
Dnajc24 G A 2: 106,001,966 (GRCm38) S24L possibly damaging Het
Dpysl3 T C 18: 43,438,042 (GRCm38) S56G probably benign Het
Esp1 A G 17: 40,731,081 (GRCm38) D88G probably benign Het
Fam171b A G 2: 83,878,230 (GRCm38) T359A probably damaging Het
Fam186b T C 15: 99,279,837 (GRCm38) E536G possibly damaging Het
Fbxo3 T C 2: 104,043,012 (GRCm38) V156A possibly damaging Het
Gls2 C A 10: 128,199,194 (GRCm38) H65Q probably benign Het
Gp2 A G 7: 119,451,498 (GRCm38) probably null Het
Gpcpd1 T A 2: 132,534,056 (GRCm38) K435I probably benign Het
Gpx6 T A 13: 21,317,670 (GRCm38) probably null Het
Hps3 A T 3: 20,030,419 (GRCm38) S202T probably benign Het
Htr1d T A 4: 136,443,501 (GRCm38) L347H probably damaging Het
Igfals T C 17: 24,881,234 (GRCm38) L433P probably damaging Het
Ilvbl C T 10: 78,583,696 (GRCm38) H537Y probably benign Het
Iqgap2 A T 13: 95,628,972 (GRCm38) M1530K probably damaging Het
Jarid2 A G 13: 44,896,322 (GRCm38) T247A possibly damaging Het
L3hypdh C T 12: 72,074,009 (GRCm38) V323I possibly damaging Het
Lama3 C T 18: 12,582,608 (GRCm38) T1707I possibly damaging Het
Map6 G T 7: 99,268,025 (GRCm38) A2S probably damaging Het
Mfap3 T A 11: 57,530,240 (GRCm38) I349K probably benign Het
Mybl2 A G 2: 163,072,705 (GRCm38) T248A probably benign Het
N6amt1 A G 16: 87,362,660 (GRCm38) *151W probably null Het
Nhlrc1 A G 13: 47,014,208 (GRCm38) V191A probably benign Het
Nkx2-5 T C 17: 26,839,620 (GRCm38) E120G possibly damaging Het
Olfr1066 T A 2: 86,455,867 (GRCm38) I135F possibly damaging Het
Olfr1380 T A 11: 49,564,098 (GRCm38) M59K probably damaging Het
Olfr582 C A 7: 103,041,632 (GRCm38) T46N possibly damaging Het
Olfr890 T C 9: 38,143,753 (GRCm38) V201A probably benign Het
Pcdha8 T G 18: 36,993,148 (GRCm38) L228V probably benign Het
Pcsk2 A G 2: 143,690,333 (GRCm38) T134A possibly damaging Het
Phldb3 G A 7: 24,624,653 (GRCm38) R484Q probably benign Het
Pipox A G 11: 77,881,186 (GRCm38) S371P probably damaging Het
Plekhg1 T C 10: 3,873,343 (GRCm38) S159P Het
Psme4 C T 11: 30,874,226 (GRCm38) P1737S probably benign Het
Pygm G A 19: 6,388,863 (GRCm38) D328N probably benign Het
Rabgef1 A T 5: 130,190,960 (GRCm38) E88V probably benign Het
Rims2 G T 15: 39,437,032 (GRCm38) R245L probably benign Het
Slc38a4 T C 15: 97,010,345 (GRCm38) I172V probably damaging Het
Slc4a10 T A 2: 62,268,665 (GRCm38) Y586N probably damaging Het
Snap91 C T 9: 86,879,557 (GRCm38) probably benign Het
Sorcs1 C T 19: 50,190,042 (GRCm38) V881I probably benign Het
Spef2 A T 15: 9,601,640 (GRCm38) V1512E unknown Het
Sufu T C 19: 46,453,277 (GRCm38) I292T possibly damaging Het
Tmem108 T C 9: 103,499,534 (GRCm38) T239A not run Het
Tmem121 A T 12: 113,188,494 (GRCm38) K111* probably null Het
Tpp2 T A 1: 43,968,888 (GRCm38) D417E probably damaging Het
Tpr G A 1: 150,439,256 (GRCm38) E2025K possibly damaging Het
Trappc3 C T 4: 126,275,152 (GRCm38) A145V possibly damaging Het
Ttn T C 2: 76,890,981 (GRCm38) D6754G probably null Het
Unc13c T A 9: 73,629,191 (GRCm38) M1627L probably benign Het
Ush2a A G 1: 188,810,217 (GRCm38) I3327V probably benign Het
Vmn1r74 C T 7: 11,846,967 (GRCm38) Q65* probably null Het
Wdr18 G A 10: 79,960,368 (GRCm38) R69H probably damaging Het
Zbed5 G T 5: 129,900,438 (GRCm38) D132Y probably damaging Het
Zfp644 A T 5: 106,637,582 (GRCm38) Y366* probably null Het
Zfyve26 T C 12: 79,246,171 (GRCm38) N2068S probably damaging Het
Zic2 T C 14: 122,476,091 (GRCm38) F139S probably damaging Het
Zmynd11 T C 13: 9,710,162 (GRCm38) Q141R probably benign Het
Zrsr1 A G 11: 22,973,388 (GRCm38) E54G probably benign Het
Zscan10 G A 17: 23,609,482 (GRCm38) D333N 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
R4687:Tet1 UTSW 10 62,838,791 (GRCm38) missense probably benign 0.04
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
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'- TCACTGGTAGTTCATAGACACAAAG -3'
(R):5'- AGAACAGGCCTTATTCCTCTCC -3'

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