Mutagenetix > Incidental Mutation

Incidental Mutation 'R8846:Tdpoz8'

674699

Institutional Source

Beutler Lab

Gene Symbol

Tdpoz8

Ensembl Gene

ENSMUSG00000096879

Gene Name

TD and POZ domain containing 8

Synonyms

Gm4858

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R8846 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92976130-92982812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92981770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 189 (I189F)

Ref Sequence

ENSEMBL: ENSMUSP00000141574 (fasta)

Gene Model

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

AlphaFold

A0A0A6YWS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179064
AA Change: I189F

PolyPhen 2 Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136458
Gene: ENSMUSG00000096879
AA Change: I189F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000194595
AA Change: I189F

PolyPhen 2 Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141574
Gene: ENSMUSG00000096879
AA Change: I189F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000195847
AA Change: I263F

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

SMART Domains

Protein: ENSMUSP00000141677
Gene: ENSMUSG00000096879
AA Change: I263F

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: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,551,610 (GRCm39)	I1198F	possibly damaging	Het
Adgrv1	C	T	13: 81,637,025 (GRCm39)		probably null	Het
Adprh	T	C	16: 38,267,775 (GRCm39)	H170R	probably damaging	Het
Arhgef10	T	C	8: 15,025,956 (GRCm39)	V820A	probably benign	Het
B3galt1	A	G	2: 67,948,717 (GRCm39)	D144G	probably benign	Het
Ccdc88a	C	T	11: 29,414,185 (GRCm39)	R908C	probably damaging	Het
Ccs	A	G	19: 4,883,480 (GRCm39)	L106P	probably damaging	Het
Dock10	T	C	1: 80,545,786 (GRCm39)	D820G	possibly damaging	Het
Gda	A	G	19: 21,389,889 (GRCm39)	I298T	probably damaging	Het
Gpr84	A	T	15: 103,218,037 (GRCm39)	H13Q	possibly damaging	Het
Igdcc4	T	C	9: 65,037,898 (GRCm39)	S760P	probably benign	Het
Ighv1-53	A	C	12: 115,122,165 (GRCm39)	I70S	probably damaging	Het
Itpr3	T	A	17: 27,330,996 (GRCm39)	I1768N	probably damaging	Het
Kctd13	C	A	7: 126,544,191 (GRCm39)	D296E	probably benign	Het
Krt76	A	G	15: 101,795,772 (GRCm39)	I466T	probably damaging	Het
Lamb1	T	C	12: 31,379,388 (GRCm39)	Y1801H	possibly damaging	Het
Mapk10	A	G	5: 103,144,521 (GRCm39)	F129L	probably damaging	Het
Myo5b	G	A	18: 74,841,043 (GRCm39)	E975K	probably benign	Het
Nrtn	C	T	17: 57,058,728 (GRCm39)	R91H	possibly damaging	Het
Olfml2a	A	T	2: 38,850,255 (GRCm39)	Y657F	probably damaging	Het
Or1j21	T	A	2: 36,683,689 (GRCm39)	V147E	probably benign	Het
Or4d10c	T	C	19: 12,065,433 (GRCm39)	H241R	probably damaging	Het
Pfkfb2	T	C	1: 130,625,648 (GRCm39)	T511A	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pkhd1l1	G	T	15: 44,410,358 (GRCm39)	G2622*	probably null	Het
Ppp6r3	A	T	19: 3,564,654 (GRCm39)	D206E	probably damaging	Het
Ptpn3	A	G	4: 57,205,020 (GRCm39)	Y714H	probably damaging	Het
Rfng	C	A	11: 120,674,972 (GRCm39)	R6L	unknown	Het
Scrt1	A	T	15: 76,405,808 (GRCm39)	V33E	possibly damaging	Het
Siglecg	A	T	7: 43,061,942 (GRCm39)	I563F	probably benign	Het
Slc1a6	G	A	10: 78,637,781 (GRCm39)	A436T	probably damaging	Het
Slc38a9	C	A	13: 112,859,814 (GRCm39)	S416*	probably null	Het
Sptbn1	A	G	11: 30,075,009 (GRCm39)	S1288P	possibly damaging	Het
Tbce	A	G	13: 14,194,285 (GRCm39)		probably null	Het
Topors	A	G	4: 40,262,952 (GRCm39)	F111L	probably damaging	Het
Vmn1r11	T	C	6: 57,114,807 (GRCm39)	M157T	probably benign	Het
Wdfy4	A	G	14: 32,867,105 (GRCm39)	L459P		Het
Zfp738	T	C	13: 67,818,155 (GRCm39)	N612S	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
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
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'- ACACTGGGAAGGCATCACAC -3'
(R):5'- AGTTGCTGTTGGAAGACAGG -3'

Sequencing Primer
(F):5'- CCACAGCTACTCTATGGCCAGTG -3'
(R):5'- GACAGGTGTAGGTCATAGCTG -3'

Posted On

2021-07-15