Mutagenetix > Incidental Mutation

Incidental Mutation 'R7273:Tdpoz8'

565391

Institutional Source

Beutler Lab

Gene Symbol

Tdpoz8

Ensembl Gene

ENSMUSG00000096879

Gene Name

TD and POZ domain containing 8

Synonyms

Gm4858

MMRRC Submission

045357-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R7273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92976130-92982812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 92981475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 90 (M90I)

Ref Sequence

ENSEMBL: ENSMUSP00000141574 (fasta)

Gene Model

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

AlphaFold

A0A0A6YWS7

Predicted Effect

probably damaging
Transcript: ENSMUST00000179064
AA Change: M90I

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

SMART Domains

Protein: ENSMUSP00000136458
Gene: ENSMUSG00000096879
AA Change: M90I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000194595
AA Change: M90I

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

SMART Domains

Protein: ENSMUSP00000141574
Gene: ENSMUSG00000096879
AA Change: M90I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000195847
AA Change: M164I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141677
Gene: ENSMUSG00000096879
AA Change: M164I

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol10a	A	T	15: 77,373,068 (GRCm39)	I235F	probably damaging	Het
Aspn	A	T	13: 49,712,352 (GRCm39)	E222D	probably benign	Het
Cfap221	A	T	1: 119,881,948 (GRCm39)	V280D	possibly damaging	Het
Chrd	G	A	16: 20,560,316 (GRCm39)	R922Q	probably benign	Het
Cnga4	T	A	7: 105,056,172 (GRCm39)	V361E	probably damaging	Het
Col15a1	T	A	4: 47,284,467 (GRCm39)		probably null	Het
Col6a4	A	G	9: 105,877,656 (GRCm39)	V2107A	possibly damaging	Het
Eea1	G	T	10: 95,825,493 (GRCm39)	V63F	probably benign	Het
Eml1	A	G	12: 108,504,432 (GRCm39)	H797R	possibly damaging	Het
Il1r2	A	G	1: 40,151,167 (GRCm39)	T141A	probably benign	Het
Il6st	T	C	13: 112,631,832 (GRCm39)	V457A	probably benign	Het
Kif19b	T	A	5: 140,461,767 (GRCm39)	V523E	probably damaging	Het
Lrrc56	T	C	7: 140,789,578 (GRCm39)	C532R	probably benign	Het
Lrrn4	T	C	2: 132,721,749 (GRCm39)	S23G	unknown	Het
Mapk8ip3	A	T	17: 25,125,148 (GRCm39)	D498E	probably benign	Het
Mcam	T	C	9: 44,052,241 (GRCm39)	F584S	possibly damaging	Het
Mdga1	A	T	17: 30,188,912 (GRCm39)	D50E	unknown	Het
Mga	T	C	2: 119,765,695 (GRCm39)	S1320P	probably damaging	Het
Muc5b	G	A	7: 141,405,307 (GRCm39)	G905D	unknown	Het
Ncor2	T	C	5: 125,100,687 (GRCm39)	N1297S		Het
Nisch	A	G	14: 30,896,364 (GRCm39)	V946A	unknown	Het
Npc1l1	A	G	11: 6,168,320 (GRCm39)	F957S	probably damaging	Het
Nuggc	A	G	14: 65,857,057 (GRCm39)	N402S	probably damaging	Het
Nup210l	A	G	3: 90,025,854 (GRCm39)	T159A	probably benign	Het
Or10g6	A	T	9: 39,933,961 (GRCm39)	I91F	probably benign	Het
Otud1	A	G	2: 19,663,873 (GRCm39)	D334G	probably damaging	Het
Pclo	T	C	5: 14,731,608 (GRCm39)	V3370A	unknown	Het
Prdm16	A	G	4: 154,429,910 (GRCm39)	L353P	probably damaging	Het
Prepl	A	C	17: 85,389,420 (GRCm39)	V128G	probably benign	Het
Pum1	T	C	4: 130,478,791 (GRCm39)	V568A	probably damaging	Het
Rab10	G	T	12: 3,306,891 (GRCm39)	S101R	probably benign	Het
Rfx3	C	T	19: 27,779,858 (GRCm39)	R435Q	probably damaging	Het
Rnf213	A	T	11: 119,322,582 (GRCm39)		probably null	Het
Sema5a	A	G	15: 32,417,608 (GRCm39)	D26G	probably benign	Het
Slc49a3	T	C	5: 108,589,857 (GRCm39)	D515G	probably benign	Het
Spata31d1b	G	A	13: 59,865,446 (GRCm39)	V865I	probably benign	Het
Sycp3	A	T	10: 88,305,428 (GRCm39)	Q176H	probably damaging	Het
Tmprss11d	A	T	5: 86,485,098 (GRCm39)	V102D	probably damaging	Het
Top1mt	A	G	15: 75,535,931 (GRCm39)	V457A	probably benign	Het
Tubal3	T	A	13: 3,980,675 (GRCm39)	I129N	probably damaging	Het
Ubr3	G	A	2: 69,809,677 (GRCm39)	D1217N	probably damaging	Het
Uggt1	A	G	1: 36,201,302 (GRCm39)	I1146T	probably damaging	Het
Umod	T	C	7: 119,076,250 (GRCm39)	Q172R	probably benign	Het
Uqcc5	G	T	14: 30,846,555 (GRCm39)	R55S	probably damaging	Het
Zdbf2	C	T	1: 63,342,563 (GRCm39)	A314V	possibly damaging	Het
Zfp787	A	T	7: 6,136,039 (GRCm39)	C71S	possibly damaging	Het
Zhx2	C	T	15: 57,686,824 (GRCm39)	A731V	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
R5819:Tdpoz8	UTSW	3	92,981,039 (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
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'- TGAGCGTACTCCAAGACTCC -3'
(R):5'- AGGGCATCCTCACACATGAC -3'

Sequencing Primer
(F):5'- AAGACTCCTTCAGCATTTCTGGACAG -3'
(R):5'- ATGACCTTCAAGCCCTTCAG -3'

Posted On

2019-06-26