Mutagenetix > Incidental Mutation

Incidental Mutation 'R5819:Tdpoz8'

449207

Institutional Source

Beutler Lab

Gene Symbol

Tdpoz8

Ensembl Gene

ENSMUSG00000096879

Gene Name

TD and POZ domain containing 8

Synonyms

Gm4858

MMRRC Submission

043399-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R5819 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

92976130-92982812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92981039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 19 (Y19C)

Ref Sequence

ENSEMBL: ENSMUSP00000141677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179064] [ENSMUST00000194595] [ENSMUST00000195847]

AlphaFold

A0A0A6YWS7

Predicted Effect

probably benign
Transcript: ENSMUST00000179064

SMART Domains

Protein: ENSMUSP00000136458
Gene: ENSMUSG00000096879

Domain	Start	End	E-Value	Type
BTB	62	161	1.73e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194595

SMART Domains

Protein: ENSMUSP00000141574
Gene: ENSMUSG00000096879

Domain	Start	End	E-Value	Type
BTB	62	161	1.73e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000195847
AA Change: Y19C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141677
Gene: ENSMUSG00000096879
AA Change: Y19C

Domain	Start	End	E-Value	Type
Blast:MATH	1	78	5e-51	BLAST
SCOP:d1czya1	3	99	3e-12	SMART
BTB	136	235	1.1e-26	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 121,930,630 (GRCm39)	I1376F	probably damaging	Het
Aggf1	T	C	13: 95,488,129 (GRCm39)	N673D	possibly damaging	Het
Avil	T	C	10: 126,845,867 (GRCm39)	F372S	probably damaging	Het
Bltp1	A	T	3: 37,102,749 (GRCm39)	M4863L	probably benign	Het
Bod1l	T	A	5: 41,989,948 (GRCm39)	E258D	probably benign	Het
Chek1	T	A	9: 36,621,701 (GRCm39)	H420L	probably benign	Het
Cyfip1	A	G	7: 55,528,899 (GRCm39)	I260M	probably damaging	Het
Dclk1	G	A	3: 55,397,285 (GRCm39)	V524I	probably damaging	Het
Efr3b	T	C	12: 4,042,965 (GRCm39)	M102V	probably benign	Het
Erc2	T	A	14: 27,863,326 (GRCm39)	I517N	probably damaging	Het
Fubp1	T	C	3: 151,926,190 (GRCm39)	I305T	probably damaging	Het
Galc	T	A	12: 98,182,520 (GRCm39)	D443V	probably benign	Het
Galnt4	T	A	10: 98,945,892 (GRCm39)	I539N	probably damaging	Het
Gm17093	G	T	14: 44,758,986 (GRCm39)	M169I	unknown	Het
Htra1	T	C	7: 130,583,469 (GRCm39)	F363S	probably damaging	Het
Itprid1	A	T	6: 55,874,876 (GRCm39)	K275N	probably benign	Het
Klhdc8b	G	A	9: 108,328,261 (GRCm39)	P64S	probably benign	Het
Kmt2c	A	G	5: 25,614,130 (GRCm39)		probably null	Het
Mettl21c	T	G	1: 44,048,882 (GRCm39)	K222Q	probably damaging	Het
Mga	A	C	2: 119,771,744 (GRCm39)	M1535L	possibly damaging	Het
Mov10	C	T	3: 104,708,828 (GRCm39)	G395D	probably damaging	Het
Ms4a10	C	A	19: 10,946,054 (GRCm39)	A26S	probably benign	Het
Mtcl3	A	T	10: 29,073,269 (GRCm39)	M854L	probably benign	Het
Naaladl1	A	G	19: 6,159,684 (GRCm39)	N372D	possibly damaging	Het
Optc	T	C	1: 133,825,617 (GRCm39)	D303G	probably damaging	Het
Or4f52	A	T	2: 111,061,304 (GRCm39)	I278N	probably damaging	Het
Osmr	C	A	15: 6,845,268 (GRCm39)	V833L	probably benign	Het
Phf14	A	G	6: 11,997,251 (GRCm39)		probably null	Het
Pjvk	A	G	2: 76,488,713 (GRCm39)	I295V	probably benign	Het
Plppr4	T	A	3: 117,119,513 (GRCm39)	I299L	possibly damaging	Het
Prkg1	A	G	19: 31,563,072 (GRCm39)	S110P	probably benign	Het
Ptprq	T	A	10: 107,555,744 (GRCm39)		probably benign	Het
Rarb	T	G	14: 16,443,820 (GRCm38)	N156T	possibly damaging	Het
Rgl3	A	T	9: 21,892,898 (GRCm39)		probably null	Het
Ruvbl1	A	C	6: 88,460,097 (GRCm39)		probably null	Het
S1pr1	G	T	3: 115,505,789 (GRCm39)	C268*	probably null	Het
Sbk3	T	C	7: 4,972,996 (GRCm39)	D58G	probably benign	Het
Scgb2b3	T	A	7: 31,059,639 (GRCm39)	H45L	possibly damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Tas2r119	T	C	15: 32,177,452 (GRCm39)	L6P	probably damaging	Het
Tcp11	A	T	17: 28,288,210 (GRCm39)	F339L	probably damaging	Het
Tmprss5	T	A	9: 49,025,779 (GRCm39)		probably null	Het
Trnau1ap	A	G	4: 132,052,521 (GRCm39)		probably benign	Het
Trp53bp1	G	A	2: 121,038,873 (GRCm39)	R1397*	probably null	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Vmn2r13	T	A	5: 109,321,966 (GRCm39)	M244L	possibly damaging	Het
Zfp777	C	T	6: 48,014,522 (GRCm39)	E395K	probably damaging	Het
Zfyve27	A	G	19: 42,171,935 (GRCm39)	S156G	probably benign	Het

Other mutations in Tdpoz8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02370:Tdpoz8	APN	3	92,981,354 (GRCm39)	missense	possibly damaging	0.61
R1872:Tdpoz8	UTSW	3	92,981,729 (GRCm39)	missense	probably damaging	1.00
R1992:Tdpoz8	UTSW	3	92,981,344 (GRCm39)	missense	probably benign	0.00
R3799:Tdpoz8	UTSW	3	92,981,393 (GRCm39)	missense	probably damaging	1.00
R5045:Tdpoz8	UTSW	3	92,981,524 (GRCm39)	missense	probably damaging	1.00
R5235:Tdpoz8	UTSW	3	92,981,393 (GRCm39)	missense	probably damaging	1.00
R6928:Tdpoz8	UTSW	3	92,981,267 (GRCm39)	missense	probably damaging	1.00
R6937:Tdpoz8	UTSW	3	92,981,417 (GRCm39)	missense	probably benign	0.14
R6956:Tdpoz8	UTSW	3	92,981,279 (GRCm39)	missense	possibly damaging	0.57
R7228:Tdpoz8	UTSW	3	92,980,993 (GRCm39)	missense	possibly damaging	0.96
R7273:Tdpoz8	UTSW	3	92,981,475 (GRCm39)	missense	probably damaging	1.00
R7308:Tdpoz8	UTSW	3	92,981,872 (GRCm39)	missense	probably benign
R7704:Tdpoz8	UTSW	3	92,981,752 (GRCm39)	missense	probably benign
R8783:Tdpoz8	UTSW	3	92,981,780 (GRCm39)	missense	probably damaging	1.00
R8846:Tdpoz8	UTSW	3	92,981,770 (GRCm39)	missense	possibly damaging	0.60
R9072:Tdpoz8	UTSW	3	92,981,341 (GRCm39)	missense	probably benign	0.05
R9219:Tdpoz8	UTSW	3	92,981,531 (GRCm39)	missense	probably damaging	0.96
R9698:Tdpoz8	UTSW	3	92,981,727 (GRCm39)	missense	possibly damaging	0.67
Z1176:Tdpoz8	UTSW	3	92,981,362 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCATGAACAGAAATTGTGC -3'
(R):5'- TGCAGAGGACGGTAAATTTGTC -3'

Sequencing Primer
(F):5'- TGCTACAGGTGGACCATTAGC -3'
(R):5'- GTTAGCACTTGGGCTAGAGAC -3'

Posted On

2016-12-20