Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00539:Tet1'

4715

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00539

Quality Score

Status

Chromosome

Chromosomal Location

62640349-62723242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62650276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 1644 (C1644F)

Ref Sequence

ENSEMBL: ENSMUSP00000133279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050826] [ENSMUST00000174121] [ENSMUST00000174189]

AlphaFold

Q3URK3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050826
AA Change: C1612F

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: C1612F

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

probably damaging
Transcript: ENSMUST00000173087
AA Change: C14F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133706
Gene: ENSMUSG00000047146
AA Change: C14F

Domain	Start	End	E-Value	Type
Tet_JBP	2	138	2.64e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000173905
AA Change: C15F

SMART Domains

Protein: ENSMUSP00000134571
Gene: ENSMUSG00000047146
AA Change: C15F

Domain	Start	End	E-Value	Type
Pfam:Tet_JBP	1	61	2.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174121
AA Change: C15F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134328
Gene: ENSMUSG00000047146
AA Change: C15F

Domain	Start	End	E-Value	Type
Tet_JBP	1	352	1.49e-83	SMART
low complexity region	365	377	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174189
AA Change: C1644F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: C1644F

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	A	19: 8,985,272 (GRCm39)	D2185E	possibly damaging	Het
Camk2b	A	G	11: 5,922,310 (GRCm39)	S560P	probably damaging	Het
Cdh13	C	A	8: 120,039,245 (GRCm39)	N562K	possibly damaging	Het
Cdhr4	A	G	9: 107,876,744 (GRCm39)	Y771C	probably damaging	Het
Ermap	A	G	4: 119,041,114 (GRCm39)	S299P	probably damaging	Het
Fgd3	A	G	13: 49,429,119 (GRCm39)		probably benign	Het
Fpr-rs4	T	A	17: 18,242,188 (GRCm39)	L65Q	probably damaging	Het
Hsph1	C	T	5: 149,542,254 (GRCm39)	R723H	possibly damaging	Het
Iqcb1	A	G	16: 36,678,873 (GRCm39)	K396E	probably damaging	Het
Kif21a	T	C	15: 90,821,504 (GRCm39)	T1424A	probably damaging	Het
Mpdz	T	C	4: 81,279,588 (GRCm39)	S700G	possibly damaging	Het
Mta3	G	A	17: 84,070,412 (GRCm39)	R39Q	probably benign	Het
Muc4	A	T	16: 32,569,728 (GRCm39)	T263S	possibly damaging	Het
Ncan	G	A	8: 70,567,921 (GRCm39)	P64S	probably benign	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Pla2g4f	T	C	2: 120,133,219 (GRCm39)	H660R	possibly damaging	Het
Polq	A	G	16: 36,880,931 (GRCm39)	T753A	probably damaging	Het
Ptchd4	C	T	17: 42,627,817 (GRCm39)	Q93*	probably null	Het
Sfpq	T	C	4: 126,917,481 (GRCm39)	V437A	possibly damaging	Het
Slc18b1	G	A	10: 23,700,659 (GRCm39)		probably null	Het
Taf1c	C	T	8: 120,328,067 (GRCm39)	V277I	possibly damaging	Het
Tcf20	T	A	15: 82,736,957 (GRCm39)	Q1498L	probably benign	Het
Trmt5	T	C	12: 73,331,693 (GRCm39)	E121G	possibly damaging	Het
Wapl	A	G	14: 34,416,965 (GRCm39)	D525G	probably damaging	Het
Ylpm1	A	G	12: 85,075,728 (GRCm39)	T360A	possibly damaging	Het
Zfp292	G	A	4: 34,808,790 (GRCm39)	P1418L	probably damaging	Het

Other mutations in Tet1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20