Mutagenetix > Incidental Mutations

Incidental Mutation 'R8147:Tet1'

632868

Institutional Source

Beutler Lab

Gene Symbol

Tet1

Ensembl Gene

ENSMUSG00000047146

Gene Name

tet methylcytosine dioxygenase 1

Synonyms

BB001228, 2510010B09Rik, D10Ertd17e, Cxxc6

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8147 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62804570-62908996 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62878807 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 403 (M403T)

Ref Sequence

ENSEMBL: ENSMUSP00000133279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050826] [ENSMUST00000174189] [ENSMUST00000218438] [ENSMUST00000218782] [ENSMUST00000227494] [ENSMUST00000228901]

Predicted Effect

probably benign
Transcript: ENSMUST00000050826
AA Change: M403T

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: M403T

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 benign
Transcript: ENSMUST00000174189
AA Change: M403T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: M403T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218438

Predicted Effect

probably benign
Transcript: ENSMUST00000218782

Predicted Effect

probably benign
Transcript: ENSMUST00000227494

Predicted Effect

probably benign
Transcript: ENSMUST00000228901

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.3%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,742,513	E487G	probably damaging	Het
Aldh9a1	T	A	1: 167,357,380	I287N	probably damaging	Het
Aox2	T	A	1: 58,300,662	N371K	probably benign	Het
Atr	T	A	9: 95,899,060	F1392L	probably damaging	Het
Bicra	G	A	7: 15,988,470	P374L	possibly damaging	Het
Cacna1b	C	T	2: 24,679,176	R912Q	probably damaging	Het
Cdhr1	T	C	14: 37,079,652	N778S	probably benign	Het
Col4a3bp	C	T	13: 96,543,228	P22L	probably benign	Het
Dgat2	C	T	7: 99,156,980	V337I	possibly damaging	Het
Dlg5	T	C	14: 24,158,327	D937G	probably benign	Het
Dqx1	T	C	6: 83,060,241	V295A	probably benign	Het
Dsg3	A	G	18: 20,540,073	T934A	probably benign	Het
Fam81b	A	C	13: 76,235,021	V243G	probably damaging	Het
Gen1	A	T	12: 11,255,050		probably null	Het
Glrx3	G	A	7: 137,463,007	S275N	probably benign	Het
Igdcc4	A	T	9: 65,123,971	Q397L	probably benign	Het
Ints6	C	T	14: 62,713,737	G281D	probably damaging	Het
Kalrn	A	T	16: 34,055,044	S1722T	probably benign	Het
Lrrc4b	A	G	7: 44,462,405	D567G	probably damaging	Het
Macf1	A	G	4: 123,491,698	L1200S	probably damaging	Het
Mad1l1	G	A	5: 140,143,979	R434C	probably damaging	Het
Mia3	A	T	1: 183,328,207	F358I		Het
Ncapd3	C	T	9: 27,030,718		probably benign	Het
Nfkb2	A	G	19: 46,307,434	R156G	possibly damaging	Het
Nus1	T	C	10: 52,429,320		probably null	Het
Olfr1107	T	A	2: 87,071,673	I154F	probably benign	Het
Olfr1183	T	C	2: 88,462,083	F267L	possibly damaging	Het
Olfr1252	T	A	2: 89,721,842	I90F	probably damaging	Het
Olfr1384	C	T	11: 49,514,223	T195I	probably benign	Het
Pafah1b2	A	G	9: 45,983,849		probably null	Het
Pold2	T	C	11: 5,876,842	T31A	probably benign	Het
Ppp1r12b	T	C	1: 134,873,942	N512S	possibly damaging	Het
Prl8a8	A	T	13: 27,511,581	L23Q	probably damaging	Het
Ptprb	T	C	10: 116,317,378	V293A	probably damaging	Het
Rpl18a	G	T	8: 70,895,425	T174N	probably damaging	Het
Senp5	A	T	16: 31,989,310	H375Q	probably benign	Het
Setbp1	A	T	18: 78,856,800	F1217L	probably damaging	Het
Skint4	A	G	4: 112,136,021	I314V	probably benign	Het
Slc28a2	A	G	2: 122,458,201	D596G	probably benign	Het
Stat5b	A	G	11: 100,797,781	I285T	probably benign	Het
Sycp3	T	C	10: 88,462,605		probably null	Het
Sympk	T	C	7: 19,036,793	F270L	probably damaging	Het
Taar5	T	C	10: 23,970,851	V49A	probably damaging	Het
Tbx18	C	T	9: 87,724,358	V245I	probably damaging	Het
Tmprss11f	A	T	5: 86,529,910	F333L	probably damaging	Het
Tnpo3	T	C	6: 29,589,214	I46V	probably benign	Het
Traf5	G	T	1: 192,062,684	N112K	probably damaging	Het
Trim12c	A	T	7: 104,341,958	M263K	unknown	Het
Trim55	A	G	3: 19,672,847	I359M	probably benign	Het
Utp20	A	T	10: 88,758,444	W2140R	probably benign	Het
Vgll3	T	C	16: 65,828,078	V104A	probably damaging	Het
Vmn2r74	C	A	7: 85,956,019	G474*	probably null	Het
Vps18	G	A	2: 119,292,756	A98T	probably benign	Het
Zfand4	T	A	6: 116,314,208	S387T	probably damaging	Het
Zfp808	A	G	13: 62,173,120	Y721C	probably damaging	Het

Other mutations in Tet1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Tet1	APN	10	62814497	missense	probably damaging	1.00
IGL01079:Tet1	APN	10	62879473	missense	probably damaging	0.99
IGL01109:Tet1	APN	10	62879774	missense	probably benign
IGL01634:Tet1	APN	10	62878588	missense	possibly damaging	0.94
IGL02003:Tet1	APN	10	62816400	missense	possibly damaging	0.92
IGL02081:Tet1	APN	10	62813818	missense	probably damaging	1.00
IGL02100:Tet1	APN	10	62812728	missense	possibly damaging	0.92
IGL02228:Tet1	APN	10	62813734	missense	probably damaging	0.99
IGL02524:Tet1	APN	10	62878646	missense	probably damaging	1.00
IGL02539:Tet1	APN	10	62813019	missense	possibly damaging	0.60
IGL02608:Tet1	APN	10	62879609	missense	possibly damaging	0.82
IGL02608:Tet1	APN	10	62839087	missense	probably damaging	1.00
IGL02702:Tet1	APN	10	62879752	missense	possibly damaging	0.83
K7371:Tet1	UTSW	10	62879176	missense	probably benign
R0166:Tet1	UTSW	10	62840279	missense	probably benign	0.05
R0371:Tet1	UTSW	10	62878399	missense	probably damaging	0.97
R0373:Tet1	UTSW	10	62878209	nonsense	probably null
R0391:Tet1	UTSW	10	62814546	splice site	probably null
R0445:Tet1	UTSW	10	62879941	missense	probably benign	0.08
R1016:Tet1	UTSW	10	62879950	missense	probably benign
R1344:Tet1	UTSW	10	62814521	missense	probably damaging	1.00
R1546:Tet1	UTSW	10	62812910	missense	probably damaging	1.00
R1651:Tet1	UTSW	10	62879674	missense	probably damaging	1.00
R1725:Tet1	UTSW	10	62814477	missense	probably damaging	1.00
R1752:Tet1	UTSW	10	62812989	missense	probably damaging	0.99
R1834:Tet1	UTSW	10	62813665	missense	probably damaging	0.99
R1964:Tet1	UTSW	10	62812947	missense	possibly damaging	0.86
R2239:Tet1	UTSW	10	62879734	missense	probably benign	0.01
R2962:Tet1	UTSW	10	62814544	nonsense	probably null
R3084:Tet1	UTSW	10	62879621	missense	probably benign	0.34
R3086:Tet1	UTSW	10	62879621	missense	probably benign	0.34
R3972:Tet1	UTSW	10	62813726	missense	probably damaging	1.00
R4622:Tet1	UTSW	10	62819474	missense	possibly damaging	0.92
R4674:Tet1	UTSW	10	62838848	missense	probably damaging	0.97
R4687:Tet1	UTSW	10	62838791	missense	probably benign	0.04
R4718:Tet1	UTSW	10	62813812	missense	probably damaging	0.96
R4801:Tet1	UTSW	10	62822663	missense	probably damaging	0.99
R4802:Tet1	UTSW	10	62822663	missense	probably damaging	0.99
R4903:Tet1	UTSW	10	62822658	missense	probably damaging	1.00
R5153:Tet1	UTSW	10	62878578	missense	possibly damaging	0.85
R5193:Tet1	UTSW	10	62838247	missense	probably benign	0.22
R5225:Tet1	UTSW	10	62838671	missense	probably damaging	1.00
R5437:Tet1	UTSW	10	62814451	missense	probably benign	0.01
R5465:Tet1	UTSW	10	62839777	missense	probably benign
R5535:Tet1	UTSW	10	62832907	missense	probably damaging	1.00
R5586:Tet1	UTSW	10	62878294	missense	probably damaging	1.00
R5763:Tet1	UTSW	10	62840068	missense	probably damaging	1.00
R5788:Tet1	UTSW	10	62839958	missense	possibly damaging	0.70
R5818:Tet1	UTSW	10	62816408	missense	possibly damaging	0.71
R5860:Tet1	UTSW	10	62812620	splice site	probably null
R5975:Tet1	UTSW	10	62879773	missense	probably benign	0.37
R6041:Tet1	UTSW	10	62813373	missense	probably damaging	0.98
R6092:Tet1	UTSW	10	62813715	missense	probably benign	0.10
R6132:Tet1	UTSW	10	62813300	missense	probably damaging	0.99
R6157:Tet1	UTSW	10	62839970	missense	probably damaging	0.98
R6520:Tet1	UTSW	10	62880013	start codon destroyed	probably null	0.53
R7210:Tet1	UTSW	10	62814501	missense	probably null	0.95
R7223:Tet1	UTSW	10	62813671	missense	possibly damaging	0.95
R7255:Tet1	UTSW	10	62822636	missense	probably benign	0.15
R7323:Tet1	UTSW	10	62880039	start gained	probably benign
R7472:Tet1	UTSW	10	62813350	missense	possibly damaging	0.84
R7507:Tet1	UTSW	10	62832892	critical splice donor site	probably null
R7522:Tet1	UTSW	10	62818983	missense	possibly damaging	0.82
R7849:Tet1	UTSW	10	62819473	missense	possibly damaging	0.83
R7879:Tet1	UTSW	10	62879046	missense	probably benign	0.03
R8073:Tet1	UTSW	10	62813353	missense	probably damaging	0.98
R8098:Tet1	UTSW	10	62879080	missense	probably damaging	1.00
R8355:Tet1	UTSW	10	62816450	missense	possibly damaging	0.89
R8545:Tet1	UTSW	10	62812939	missense	probably damaging	1.00
R8556:Tet1	UTSW	10	62840206	missense	probably benign	0.37
Z1177:Tet1	UTSW	10	62818985	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CGTTTGCAGCTATTACCAGAG -3'
(R):5'- CAAGTTCTGGATGCCACCTC -3'

Sequencing Primer
(F):5'- TGCAGCTATTACCAGAGGTACTG -3'
(R):5'- GATGCCACCTCTGTCCTAGGAC -3'

Posted On

2020-06-30