Mutagenetix > Incidental Mutation

Incidental Mutation 'R6157:Tet1'

489652

Institutional Source

Beutler Lab

Gene Symbol

Tet1

Ensembl Gene

ENSMUSG00000047146

Gene Name

tet methylcytosine dioxygenase 1

Synonyms

Cxxc6, D10Ertd17e, 2510010B09Rik, BB001228

MMRRC Submission

044304-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6157 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62640349-62723242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62675749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 776 (S776P)

Ref Sequence

ENSEMBL: ENSMUSP00000133279 (fasta)

Gene Model

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

AlphaFold

Q3URK3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050826
AA Change: S776P

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: S776P

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 damaging
Transcript: ENSMUST00000174189
AA Change: S776P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: S776P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 93.1%

Validation Efficiency

93% (40/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,947,617 (GRCm39)	K505E	possibly damaging	Het
Abcb1b	A	T	5: 8,874,245 (GRCm39)	N390I	possibly damaging	Het
Apob	A	T	12: 8,056,077 (GRCm39)	M1520L	probably benign	Het
Atg4c	C	T	4: 99,123,400 (GRCm39)	R396*	probably null	Het
Atp2a3	G	A	11: 72,871,442 (GRCm39)	V648M	probably damaging	Het
Blm	T	C	7: 80,162,733 (GRCm39)	D203G	probably benign	Het
Csrnp3	A	T	2: 65,779,363 (GRCm39)	D13V	probably damaging	Het
Dnajc10	A	T	2: 80,147,735 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,250,253 (GRCm39)	Y1729C	probably damaging	Het
Dynlt2b	G	A	16: 32,238,660 (GRCm39)	A12T	possibly damaging	Het
Ecsit	T	C	9: 21,985,987 (GRCm39)	Y213C	probably damaging	Het
Fer	A	G	17: 64,385,880 (GRCm39)	K654R	probably damaging	Het
Hdac9	G	T	12: 34,439,428 (GRCm39)	A383E	probably damaging	Het
Hltf	T	A	3: 20,130,660 (GRCm39)	S293T	probably benign	Het
Hydin	T	A	8: 111,254,648 (GRCm39)	D2359E	probably benign	Het
Inf2	A	G	12: 112,571,222 (GRCm39)		probably benign	Het
Kcns2	A	G	15: 34,839,504 (GRCm39)	N289S	possibly damaging	Het
Meioc	T	C	11: 102,559,227 (GRCm39)	S50P	probably damaging	Het
Mocs1	G	T	17: 49,761,764 (GRCm39)	E619D	probably benign	Het
Nfatc2	A	G	2: 168,361,371 (GRCm39)		probably benign	Het
Or51i1	T	A	7: 103,671,105 (GRCm39)	N140I	possibly damaging	Het
Pag1	A	T	3: 9,758,896 (GRCm39)	H407Q	probably benign	Het
Plaat1	A	G	16: 29,036,501 (GRCm39)	I46M	possibly damaging	Het
Plcb3	G	A	19: 6,943,533 (GRCm39)	A122V	probably damaging	Het
Pld4	C	T	12: 112,734,535 (GRCm39)	T432I	probably damaging	Het
Psd3	T	G	8: 68,574,179 (GRCm39)	M1L	probably benign	Het
Rasgrp2	C	A	19: 6,452,531 (GRCm39)	L35I	probably damaging	Het
Ripor2	T	C	13: 24,885,052 (GRCm39)	L390P	probably damaging	Het
Rpgrip1	A	T	14: 52,349,631 (GRCm39)	E6D	probably benign	Het
Ryr3	A	T	2: 112,672,244 (GRCm39)	L1409Q	probably damaging	Het
Slc6a5	A	G	7: 49,601,250 (GRCm39)	T684A	probably benign	Het
Smpd4	G	T	16: 17,458,930 (GRCm39)		probably null	Het
Snx18	T	C	13: 113,753,725 (GRCm39)	S403G	probably damaging	Het
Spsb4	G	T	9: 96,878,160 (GRCm39)	H54Q	probably damaging	Het
Ssrp1	A	G	2: 84,871,072 (GRCm39)	Y236C	probably damaging	Het
Tenm3	C	T	8: 48,751,843 (GRCm39)	S982N	probably damaging	Het
Tln1	G	A	4: 43,534,744 (GRCm39)	P2166S	probably benign	Het
Ufl1	T	A	4: 25,279,350 (GRCm39)	Q83L	possibly damaging	Het
Unc80	A	T	1: 66,693,188 (GRCm39)	K2458*	probably null	Het
Ush2a	A	T	1: 188,460,467 (GRCm39)	Y2576F	probably benign	Het
Xrcc6	C	A	15: 81,913,305 (GRCm39)		probably null	Het
Zbtb48	A	G	4: 152,106,064 (GRCm39)	F380L	probably damaging	Het
Zfp534	C	T	4: 147,758,947 (GRCm39)	R574K	probably benign	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
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
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'- CCAGCGCTGTGTGTATTAGG -3'
(R):5'- ATCACACTTAGCAGAGGGTCAAG -3'

Sequencing Primer
(F):5'- ATTAGGGTGATTATTAAAGATGGTGG -3'
(R):5'- GGAAGCTGTGATGCCAATTTAACTG -3'

Posted On

2017-10-10