Mutagenetix > Incidental Mutation

Incidental Mutation 'R5465:Tet1'

433212

Institutional Source

Beutler Lab

Gene Symbol

Tet1

Ensembl Gene

ENSMUSG00000047146

Gene Name

tet methylcytosine dioxygenase 1

Synonyms

Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228

MMRRC Submission

043026-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5465 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62640349-62723242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62675556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 840 (H840R)

Ref Sequence

ENSEMBL: ENSMUSP00000133279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050826] [ENSMUST00000174189]

AlphaFold

Q3URK3

Predicted Effect

probably benign
Transcript: ENSMUST00000050826
AA Change: H840R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: H840R

Domain	Start	End	E-Value	Type
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: H840R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: H840R

Domain	Start	End	E-Value	Type
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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aplp1	T	C	7: 30,136,277 (GRCm39)	D500G	probably benign	Het
Atg7	G	A	6: 114,629,493 (GRCm39)	G4R	probably benign	Het
Atp11b	G	A	3: 35,864,333 (GRCm39)	V302I	probably benign	Het
Cacna1b	C	T	2: 24,540,438 (GRCm39)		probably null	Het
Ccna1	T	C	3: 54,953,065 (GRCm39)	H234R	probably benign	Het
Cplx2	G	A	13: 54,527,352 (GRCm39)	E79K	possibly damaging	Het
Dnai4	T	A	4: 102,906,758 (GRCm39)	D685V	probably damaging	Het
Gnb2	A	G	5: 137,526,775 (GRCm39)	I380T	probably damaging	Het
Gpr162	A	T	6: 124,838,134 (GRCm39)	V172D	probably damaging	Het
Gtf2a1	A	C	12: 91,534,565 (GRCm39)	F191V	possibly damaging	Het
Ift172	A	T	5: 31,418,862 (GRCm39)		probably null	Het
Khdrbs2	T	C	1: 32,658,255 (GRCm39)	Y272H	probably damaging	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,136,506 (GRCm39)	S2203P	probably damaging	Het
Map3k1	A	T	13: 111,892,654 (GRCm39)	L867Q	probably benign	Het
Ncapd2	A	T	6: 125,153,746 (GRCm39)	F656L	probably damaging	Het
Or51f5	A	G	7: 102,424,640 (GRCm39)	K303R	probably benign	Het
Or5b109	T	C	19: 13,212,052 (GRCm39)	I146T	probably benign	Het
Or7c70	T	C	10: 78,682,852 (GRCm39)	K299R	probably benign	Het
Pcdhb6	A	T	18: 37,467,783 (GRCm39)	I235F	probably damaging	Het
Pzp	A	G	6: 128,463,924 (GRCm39)	S1395P	probably damaging	Het
Ralgapb	C	A	2: 158,290,325 (GRCm39)	T412N	possibly damaging	Het
Rtn4r	A	T	16: 17,969,291 (GRCm39)	M240L	probably benign	Het
Slit2	C	T	5: 48,407,254 (GRCm39)	T895I	probably damaging	Het
Slx4ip	T	G	2: 136,846,867 (GRCm39)	L44R	probably damaging	Het
Sptbn2	C	A	19: 4,800,133 (GRCm39)	Q2196K	probably benign	Het
Tbc1d16	G	A	11: 119,046,885 (GRCm39)	S454L	probably benign	Het
Usp47	C	T	7: 111,658,209 (GRCm39)	T176M	probably damaging	Het
Utp6	A	T	11: 79,839,836 (GRCm39)	I284N	probably benign	Het
Vcpip1	T	C	1: 9,817,372 (GRCm39)	H337R	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in Tet1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AAGCAGACTAGCCGTTTTCTG -3'
(R):5'- ATTGCTGACTGATCCCTCAAAC -3'

Sequencing Primer
(F):5'- CAGACTAGCCGTTTTCTGATGCG -3'
(R):5'- TGATCCCTCAAACTGCAAGGATG -3'

Posted On

2016-10-06