Mutagenetix > Incidental Mutation

Incidental Mutation 'R7351:Tdpoz2'

570556

Institutional Source

Beutler Lab

Gene Symbol

Tdpoz2

Ensembl Gene

ENSMUSG00000103362

Gene Name

TD and POZ domain containing 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.406) question?

Stock #

R7351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93651542-93652686 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 93652593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 24 (W24*)

Ref Sequence

ENSEMBL: ENSMUSP00000141299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000191960]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000191960
AA Change: W24*

SMART Domains

Protein: ENSMUSP00000141299
Gene: ENSMUSG00000103362
AA Change: W24*

Domain	Start	End	E-Value	Type
MATH	24	130	1.27e-6	SMART
BTB	188	287	7.44e-24	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,412,510	G343V	probably damaging	Het
1700006E09Rik	A	G	11: 101,991,505	E163G	probably benign	Het
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
Adamts6	G	A	13: 104,390,112	S516N	possibly damaging	Het
Ahi1	A	G	10: 20,965,933	D301G	probably damaging	Het
Arhgef37	T	A	18: 61,498,215	L566F	possibly damaging	Het
AU040320	A	G	4: 126,816,444	N328D	probably damaging	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Brk1	T	C	6: 113,615,781	S42P	probably benign	Het
Ccdc180	A	G	4: 45,903,887	E351G	possibly damaging	Het
Cenpo	A	T	12: 4,216,581	F176I	probably damaging	Het
Clec12b	A	G	6: 129,379,911		probably null	Het
Ddx42	A	G	11: 106,247,682	N769S	probably benign	Het
Drc7	A	G	8: 95,058,507	D165G	probably benign	Het
Dync2h1	A	T	9: 7,167,145	I486N	probably damaging	Het
Gmip	A	G	8: 69,817,384	D679G	probably benign	Het
Gml2	T	C	15: 74,821,376	V76A	possibly damaging	Het
Gpr26	T	C	7: 131,974,365	C253R	probably damaging	Het
H2-Q4	A	G	17: 35,382,878	T239A	possibly damaging	Het
Hmcn1	T	A	1: 150,667,889	Y2845F	probably damaging	Het
Ift172	A	G	5: 31,275,896	Y550H	probably damaging	Het
Irgm2	G	A	11: 58,219,605	V41M	possibly damaging	Het
Lrp2	C	T	2: 69,448,142	G3956R	probably damaging	Het
Matn2	G	A	15: 34,345,336	R163H	probably damaging	Het
Mxd1	A	G	6: 86,651,466	S151P	probably damaging	Het
Olfr1022	G	T	2: 85,864,071		probably benign	Het
Olfr1246	C	T	2: 89,590,513	G201S	probably benign	Het
Olfr1330	T	C	4: 118,893,836	V251A	probably benign	Het
Olfr147	C	T	9: 38,403,443	L190F	probably damaging	Het
Plcg2	A	G	8: 117,590,310	E642G	possibly damaging	Het
Pramel6	T	A	2: 87,510,328	F335I	probably benign	Het
Psd	G	T	19: 46,322,430	S393R	probably benign	Het
Pwwp2a	A	G	11: 43,682,280	D63G	probably benign	Het
Rbm28	T	C	6: 29,158,880	T139A	probably benign	Het
Ripk2	T	G	4: 16,155,048	E157A	probably damaging	Het
Rnf145	G	A	11: 44,548,796	V140I	possibly damaging	Het
Rnf38	T	C	4: 44,149,102	N114D	probably benign	Het
Samd9l	G	A	6: 3,374,157	R1035C	probably benign	Het
Sec14l3	A	G	11: 4,074,785	T245A	probably benign	Het
Serpina10	A	T	12: 103,628,935	F8L	probably benign	Het
Slc16a8	T	A	15: 79,253,641	D56V	probably damaging	Het
Spag9	A	T	11: 94,092,976	E726D	probably benign	Het
Spg11	A	G	2: 122,069,931	F1547L	possibly damaging	Het
Sspo	T	C	6: 48,464,921	I1955T	possibly damaging	Het
Stx18	T	A	5: 38,039,411	V27E	probably benign	Het
Taf1c	A	G	8: 119,599,000	S708P	probably damaging	Het
Tas2r126	T	C	6: 42,435,306	F258L	probably benign	Het
Tmc8	T	C	11: 117,783,828	L123P	probably damaging	Het
Trmo	A	T	4: 46,387,716	Y35N	possibly damaging	Het
Ttn	C	T	2: 76,767,686	V19628I	possibly damaging	Het
Ttn	G	A	2: 76,939,930	A2685V	unknown	Het
Usp15	A	T	10: 123,132,999	M349K	probably damaging	Het
Vmn2r89	A	G	14: 51,456,282	N363S	probably benign	Het
Vwa3a	T	A	7: 120,776,336	I423N	probably damaging	Het
Zfp592	T	C	7: 81,041,691	V1206A	probably benign	Het
Zfp866	A	T	8: 69,765,897	Y358N	probably damaging	Het

Other mutations in Tdpoz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01780:Tdpoz2	APN	3	93652428	missense	possibly damaging	0.48
IGL02285:Tdpoz2	APN	3	93652291	missense	probably damaging	1.00
IGL02350:Tdpoz2	APN	3	93652428	missense	possibly damaging	0.48
IGL02357:Tdpoz2	APN	3	93652428	missense	possibly damaging	0.48
IGL02887:Tdpoz2	APN	3	93651739	missense	probably benign	0.43
FR4304:Tdpoz2	UTSW	3	93651615	frame shift	probably null
FR4340:Tdpoz2	UTSW	3	93651615	frame shift	probably null
R1502:Tdpoz2	UTSW	3	93652146	missense	probably benign	0.01
R1943:Tdpoz2	UTSW	3	93651923	nonsense	probably null
R4825:Tdpoz2	UTSW	3	93652074	missense	possibly damaging	0.58
R5055:Tdpoz2	UTSW	3	93651928	missense	probably damaging	1.00
R5096:Tdpoz2	UTSW	3	93652512	missense	possibly damaging	0.87
R5398:Tdpoz2	UTSW	3	93652134	missense	probably damaging	0.97
R6178:Tdpoz2	UTSW	3	93652311	missense	probably benign	0.01
R6280:Tdpoz2	UTSW	3	93651883	missense	probably benign	0.03
R6338:Tdpoz2	UTSW	3	93652336	missense	probably benign	0.30
R6544:Tdpoz2	UTSW	3	93651960	missense	possibly damaging	0.81
R6954:Tdpoz2	UTSW	3	93652275	missense	probably damaging	1.00
R8473:Tdpoz2	UTSW	3	93651846	missense	probably damaging	0.98
R8673:Tdpoz2	UTSW	3	93651611	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTCTCTTTGGGCAGTTGACC -3'
(R):5'- GCAAAGTTCATGAGGCAGC -3'

Sequencing Primer
(F):5'- GGCAGTTGACCAACACCAGG -3'
(R):5'- TTTATTTACACCACGGAGAGGG -3'

Posted On

2019-09-13