Mutagenetix > Incidental Mutations

Incidental Mutation 'R5975:Tet1'

471700

Institutional Source

Beutler Lab

Gene Symbol

Tet1

Ensembl Gene

ENSMUSG00000047146

Gene Name

tet methylcytosine dioxygenase 1

Synonyms

BB001228, 2510010B09Rik, D10Ertd17e, Cxxc6

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62804570-62908996 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 62879773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 81 (M81R)

Ref Sequence

ENSEMBL: ENSMUSP00000133279 (fasta)

Gene Model

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

AlphaFold

Q3URK3

Predicted Effect

probably benign
Transcript: ENSMUST00000050826
AA Change: M81R

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000059527
Gene: ENSMUSG00000047146
AA Change: M81R

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: M81R

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133279
Gene: ENSMUSG00000047146
AA Change: M81R

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

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292		probably benign	Het
Abhd14a	A	T	9: 106,443,951		probably null	Het
Actn2	T	C	13: 12,340,497	N2D	probably benign	Het
Adcy9	T	C	16: 4,311,567	E722G	probably damaging	Het
Alox12	C	A	11: 70,242,783	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447		probably null	Het
Bpifa3	T	A	2: 154,136,321	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864		probably benign	Het
Cabin1	A	T	10: 75,657,839	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Celsr1	G	T	15: 85,919,038		probably null	Het
Cenpj	A	T	14: 56,564,066	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793	R680G	probably damaging	Het
Dhx58	C	A	11: 100,702,209	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432		probably null	Het
Fbxw15	A	T	9: 109,555,252	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103	V62I	probably benign	Het
Gart	A	G	16: 91,624,336	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549		probably benign	Het
Gm8882	A	G	6: 132,362,073	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516		probably benign	Het
Gsdme	T	C	6: 50,227,359	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619		probably null	Het
P4ha2	G	A	11: 54,126,412		probably null	Het
Pcdha9	T	A	18: 36,999,111	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370		probably benign	Het
Prmt9	T	C	8: 77,561,018		probably benign	Het
Rab26	T	C	17: 24,530,399	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778	I105N	probably benign	Het
Togaram2	T	C	17: 71,729,205	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271		noncoding transcript	Het
Ttn	G	A	2: 76,761,235	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092	Y187N	possibly 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
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
R8147:Tet1	UTSW	10	62878807	missense	probably benign	0.01
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
R8936:Tet1	UTSW	10	62840284	nonsense	probably null
R9173:Tet1	UTSW	10	62840286	missense	probably benign
R9414:Tet1	UTSW	10	62839156	missense	probably benign	0.01
Z1177:Tet1	UTSW	10	62818985	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CCTGGATATTATGTGTACACTGCTTC -3'
(R):5'- TACTCTGCAGCCATGTCTCG -3'

Sequencing Primer
(F):5'- ACACTGCTTCTTTGAAGGTGGTAC -3'
(R):5'- AGCCATGTCTCGGTCCC -3'

Posted On

2017-03-31