Mutagenetix > Incidental Mutations

Incidental Mutation 'R7198:Tdpoz4'

560064

Institutional Source

Beutler Lab

Gene Symbol

Tdpoz4

Ensembl Gene

ENSMUSG00000060256

Gene Name

TD and POZ domain containing 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.796) question?

Stock #

R7198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93796398-93797510 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 93797355 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 320 (S320A)

Ref Sequence

ENSEMBL: ENSMUSP00000075338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075953]

Predicted Effect

probably benign
Transcript: ENSMUST00000075953
AA Change: S320A

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075338
Gene: ENSMUSG00000060256
AA Change: S320A

Domain	Start	End	E-Value	Type
MATH	24	130	4.81e-2	SMART
BTB	188	287	2.9e-26	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	C	T	11: 110,078,655	S365N	probably damaging	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Baz2b	A	G	2: 59,962,206	L526P	probably benign	Het
Bbs1	A	T	19: 4,895,015	L376Q	probably damaging	Het
Bcl9	T	A	3: 97,205,195	M1315L	possibly damaging	Het
Bcl9	T	C	3: 97,208,867	Q837R	probably damaging	Het
Cct2	A	G	10: 117,053,124	V490A	probably benign	Het
Cdh23	T	C	10: 60,312,599	Y2663C	possibly damaging	Het
Chit1	A	G	1: 134,150,491	K346E	possibly damaging	Het
Chl1	A	G	6: 103,706,556	Y781C	probably damaging	Het
Col12a1	A	C	9: 79,650,032	L1938R	possibly damaging	Het
Cpxm2	T	A	7: 132,080,084	N239Y	probably damaging	Het
Cyp3a41b	A	G	5: 145,582,520	Y54H	probably benign	Het
Dclk1	A	C	3: 55,477,875	D369A	possibly damaging	Het
Dpy19l3	T	C	7: 35,749,765	N71S	possibly damaging	Het
Fer	T	A	17: 63,921,688	V186E	possibly damaging	Het
Gm11042	T	A	12: 74,315,114	H39L	unknown	Het
Gm11639	T	A	11: 104,751,885	N1111K	probably benign	Het
Gm14325	A	G	2: 177,832,005	I428T	probably benign	Het
Gm47995	A	G	1: 151,198,653	E69G	possibly damaging	Het
Gm6176	T	A	7: 22,051,171	I112F	probably damaging	Het
Hivep2	T	A	10: 14,129,966	D769E	probably benign	Het
Hsdl1	C	T	8: 119,567,868	V40I	probably benign	Het
Ipmk	A	G	10: 71,348,052	H34R	probably damaging	Het
Kcnd3	T	C	3: 105,459,540	L242P	probably damaging	Het
Kdm4d	T	C	9: 14,464,020	M181V	probably damaging	Het
Lats2	A	T	14: 57,697,125	I716N	probably damaging	Het
Liph	T	C	16: 21,966,022	Y305C	probably damaging	Het
Ltbp1	T	C	17: 75,226,967	V150A	possibly damaging	Het
Ly6d	A	T	15: 74,762,535	S69T	probably benign	Het
Meltf	A	G	16: 31,883,799	R115G	possibly damaging	Het
Msgn1	G	T	12: 11,208,901	D16E	probably benign	Het
Mthfd2l	T	A	5: 90,946,846	I58K	probably damaging	Het
Mup18	G	C	4: 61,673,336		probably null	Het
Nek10	T	A	14: 14,850,947	W331R	probably damaging	Het
Nphp3	A	G	9: 104,004,775	Y148C	probably damaging	Het
Olfr1256	T	C	2: 89,835,732	Y71C	probably damaging	Het
Olfr187	C	T	16: 59,036,093	V215I	probably benign	Het
Olfr820	T	A	10: 130,017,891	C177S	probably damaging	Het
Oscp1	A	G	4: 126,086,666	T325A	possibly damaging	Het
Pcdha4	T	A	18: 36,953,560	N265K	probably damaging	Het
Pigq	C	T	17: 25,934,225	V331I	probably benign	Het
Plekhg4	A	G	8: 105,378,697	E598G	probably damaging	Het
Pou6f2	G	A	13: 18,129,163	T120M	probably damaging	Het
Psg27	T	A	7: 18,561,801	T240S	probably damaging	Het
Samd12	T	A	15: 53,860,253	I15F	probably damaging	Het
Scaf4	A	T	16: 90,252,430	D256E	unknown	Het
Scaf8	T	A	17: 3,163,098	M154K	unknown	Het
Slc27a1	T	C	8: 71,579,427	V64A	possibly damaging	Het
Smc5	G	A	19: 23,259,700	R256*	probably null	Het
Snx31	A	G	15: 36,555,310	F31L	probably benign	Het
Spag17	T	C	3: 100,095,572	S1871P	probably benign	Het
Tmprss11c	A	T	5: 86,231,832	C406S	probably damaging	Het
Tnip1	G	A	11: 54,917,804	A519V	probably benign	Het
Tssc4	T	A	7: 143,070,987		probably null	Het
Uba3	A	T	6: 97,205,551	M1K	probably null	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 85,022,855		probably null	Het
Wdr78	A	G	4: 103,062,413	V498A	probably damaging	Het
Wnt11	T	C	7: 98,847,381	M176T	possibly damaging	Het
Wrn	C	T	8: 33,324,318	G366D	probably benign	Het
Xylt1	T	A	7: 117,656,584	I793N	probably damaging	Het
Zfp677	T	G	17: 21,398,417	C579G	probably damaging	Het
Zscan4-ps1	T	A	7: 11,065,699	K421M	probably damaging	Het

Other mutations in Tdpoz4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Tdpoz4	APN	3	93797073	missense	probably benign	0.22
IGL01731:Tdpoz4	APN	3	93796882	missense	possibly damaging	0.62
IGL01934:Tdpoz4	APN	3	93797472	missense	probably damaging	1.00
IGL03269:Tdpoz4	APN	3	93796837	missense	probably damaging	1.00
FR4340:Tdpoz4	UTSW	3	93796880	frame shift	probably null
FR4342:Tdpoz4	UTSW	3	93796880	frame shift	probably null
R0387:Tdpoz4	UTSW	3	93796700	missense	probably benign	0.26
R1134:Tdpoz4	UTSW	3	93797218	missense	probably benign	0.42
R1299:Tdpoz4	UTSW	3	93796462	missense	probably benign	0.26
R1574:Tdpoz4	UTSW	3	93796528	missense	probably benign	0.16
R1574:Tdpoz4	UTSW	3	93796528	missense	probably benign	0.16
R2113:Tdpoz4	UTSW	3	93797044	missense	probably damaging	1.00
R4601:Tdpoz4	UTSW	3	93797032	missense	probably damaging	1.00
R4738:Tdpoz4	UTSW	3	93797089	missense	probably damaging	1.00
R4948:Tdpoz4	UTSW	3	93797011	missense	probably damaging	1.00
R5495:Tdpoz4	UTSW	3	93797499	missense	probably benign	0.07
R5519:Tdpoz4	UTSW	3	93797499	missense	probably benign	0.07
R5550:Tdpoz4	UTSW	3	93797499	missense	probably benign	0.07
R5595:Tdpoz4	UTSW	3	93797499	missense	probably benign	0.07
R5596:Tdpoz4	UTSW	3	93797499	missense	probably benign	0.07
R5615:Tdpoz4	UTSW	3	93797499	missense	probably benign	0.07
R7290:Tdpoz4	UTSW	3	93796848	missense	not run
R7677:Tdpoz4	UTSW	3	93797508	makesense	probably null
X0066:Tdpoz4	UTSW	3	93796968	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACTCCATGGCCTGTGATCTG -3'
(R):5'- CATTGTCTAAGGGAGTCACTGGG -3'

Sequencing Primer
(F):5'- TGATCTGCTGGCAGCTGC -3'
(R):5'- CCCAGTTGCTGTTGGAAGAC -3'

Posted On

2019-06-26