Mutagenetix > Incidental Mutation

Incidental Mutation 'R6544:Tdpoz2'

520998

Institutional Source

Beutler Lab

Gene Symbol

Tdpoz2

Ensembl Gene

ENSMUSG00000103362

Gene Name

TD and POZ domain containing 2

Synonyms

MMRRC Submission

044670-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.351) question?

Stock #

R6544 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93558849-93559993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93559267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 235 (D235G)

Ref Sequence

ENSEMBL: ENSMUSP00000141299 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191960
AA Change: D235G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141299
Gene: ENSMUSG00000103362
AA Change: D235G

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: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005K14Rik	T	A	1: 83,036,678 (GRCm39)	K118*	probably null	Het
Actr2	A	G	11: 20,050,933 (GRCm39)	F17L	probably damaging	Het
Adam26b	T	C	8: 43,974,818 (GRCm39)	I61M	probably damaging	Het
Ahcyl	A	C	16: 45,975,147 (GRCm39)	S77A	probably benign	Het
Ahnak2	A	G	12: 112,746,829 (GRCm39)		probably benign	Het
Angptl3	T	C	4: 98,919,675 (GRCm39)	L145P	probably damaging	Het
Ank2	T	C	3: 126,726,871 (GRCm39)	T808A	probably damaging	Het
Ark2c	T	A	18: 77,650,931 (GRCm39)		probably benign	Het
Cadm3	A	G	1: 173,194,977 (GRCm39)		probably null	Het
Cog7	C	T	7: 121,534,966 (GRCm39)	R573Q	probably damaging	Het
Dchs1	T	A	7: 105,407,385 (GRCm39)	I2110F	probably damaging	Het
Fbxo47	G	A	11: 97,747,089 (GRCm39)	R326C	probably damaging	Het
Frmpd1	A	T	4: 45,279,024 (GRCm39)	D583V	probably damaging	Het
Gigyf1	T	A	5: 137,523,321 (GRCm39)	L911Q	probably damaging	Het
Gprin1	G	A	13: 54,888,124 (GRCm39)	A50V	possibly damaging	Het
Grik4	A	T	9: 42,459,024 (GRCm39)	Y571*	probably null	Het
Gucy2e	A	G	11: 69,126,483 (GRCm39)	V299A	probably benign	Het
Hectd2	C	T	19: 36,589,728 (GRCm39)	L618F	probably damaging	Het
Lactbl1	A	T	4: 136,360,300 (GRCm39)	I160F	possibly damaging	Het
Lats1	T	A	10: 7,577,434 (GRCm39)	V186D	possibly damaging	Het
Lmtk2	A	G	5: 144,110,624 (GRCm39)	H448R	possibly damaging	Het
Map10	T	C	8: 126,398,113 (GRCm39)	I502T	probably benign	Het
Mok	A	G	12: 110,777,189 (GRCm39)	F239S	probably damaging	Het
Mprip	G	A	11: 59,648,552 (GRCm39)	G752D	probably benign	Het
Naip5	C	A	13: 100,359,652 (GRCm39)	G528V	possibly damaging	Het
Neu2	T	C	1: 87,524,464 (GRCm39)	W150R	probably damaging	Het
Or1ak2	T	A	2: 36,827,539 (GRCm39)	M136K	possibly damaging	Het
Or5an1	T	C	19: 12,260,519 (GRCm39)	Y36H	probably damaging	Het
Or5as1	T	A	2: 86,980,207 (GRCm39)	Y266F	probably damaging	Het
Or5l13	T	A	2: 87,780,335 (GRCm39)	M81L	probably benign	Het
Pip5k1c	T	A	10: 81,144,830 (GRCm39)	Y224N	probably damaging	Het
Plch1	T	C	3: 63,758,399 (GRCm39)	E5G	probably damaging	Het
Pspc1	T	C	14: 57,001,660 (GRCm39)	*59W	probably null	Het
Ptprq	T	C	10: 107,444,102 (GRCm39)	T1501A	probably damaging	Het
Rorb	G	T	19: 18,929,614 (GRCm39)	P304T	possibly damaging	Het
Scn7a	A	T	2: 66,514,444 (GRCm39)	L1110Q	probably damaging	Het
Serpine2	C	T	1: 79,780,847 (GRCm39)		probably null	Het
Slco1c1	A	G	6: 141,477,170 (GRCm39)		probably null	Het
Smarca2	T	A	19: 26,608,331 (GRCm39)	V130D	probably damaging	Het
Sox17	G	T	1: 4,562,655 (GRCm39)	P117T	possibly damaging	Het
Sparcl1	A	T	5: 104,240,310 (GRCm39)	Y371*	probably null	Het
Tns2	A	C	15: 102,022,269 (GRCm39)	K1182N	possibly damaging	Het
Tpte	G	T	8: 22,805,121 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,799,503 (GRCm39)	I459K	possibly damaging	Het
Wdr97	T	C	15: 76,242,478 (GRCm39)	Y823H	probably benign	Het
Zc3h15	G	A	2: 83,491,492 (GRCm39)	R240H	probably benign	Het
Zfp455	C	A	13: 67,355,121 (GRCm39)	L130I	probably benign	Het
Zfp777	A	T	6: 48,021,419 (GRCm39)	S68T	probably damaging	Het

Other mutations in Tdpoz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01780:Tdpoz2	APN	3	93,559,735 (GRCm39)	missense	possibly damaging	0.48
IGL02285:Tdpoz2	APN	3	93,559,598 (GRCm39)	missense	probably damaging	1.00
IGL02350:Tdpoz2	APN	3	93,559,735 (GRCm39)	missense	possibly damaging	0.48
IGL02357:Tdpoz2	APN	3	93,559,735 (GRCm39)	missense	possibly damaging	0.48
IGL02887:Tdpoz2	APN	3	93,559,046 (GRCm39)	missense	probably benign	0.43
FR4304:Tdpoz2	UTSW	3	93,558,922 (GRCm39)	frame shift	probably null
FR4340:Tdpoz2	UTSW	3	93,558,922 (GRCm39)	frame shift	probably null
R1502:Tdpoz2	UTSW	3	93,559,453 (GRCm39)	missense	probably benign	0.01
R1943:Tdpoz2	UTSW	3	93,559,230 (GRCm39)	nonsense	probably null
R4825:Tdpoz2	UTSW	3	93,559,381 (GRCm39)	missense	possibly damaging	0.58
R5055:Tdpoz2	UTSW	3	93,559,235 (GRCm39)	missense	probably damaging	1.00
R5096:Tdpoz2	UTSW	3	93,559,819 (GRCm39)	missense	possibly damaging	0.87
R5398:Tdpoz2	UTSW	3	93,559,441 (GRCm39)	missense	probably damaging	0.97
R6178:Tdpoz2	UTSW	3	93,559,618 (GRCm39)	missense	probably benign	0.01
R6280:Tdpoz2	UTSW	3	93,559,190 (GRCm39)	missense	probably benign	0.03
R6338:Tdpoz2	UTSW	3	93,559,643 (GRCm39)	missense	probably benign	0.30
R6954:Tdpoz2	UTSW	3	93,559,582 (GRCm39)	missense	probably damaging	1.00
R7351:Tdpoz2	UTSW	3	93,559,900 (GRCm39)	nonsense	probably null
R8473:Tdpoz2	UTSW	3	93,559,153 (GRCm39)	missense	probably damaging	0.98
R8673:Tdpoz2	UTSW	3	93,558,918 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTCAGCTGCTCTGTGCTATGG -3'
(R):5'- AGATGACCTAGGCAAGCTGTG -3'

Sequencing Primer
(F):5'- GAGTGTGTGCAGCATTCTCCAC -3'
(R):5'- GCAAGCTGTGGGAGAATTCC -3'

Posted On

2018-06-06