Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02285:Tdpoz2'

289960

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tdpoz2

Ensembl Gene

ENSMUSG00000103362

Gene Name

TD and POZ domain containing 2

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02285

Quality Score

Status

Chromosome

Chromosomal Location

93558849-93559993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93559598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 125 (I125F)

Ref Sequence

ENSEMBL: ENSMUSP00000141299 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000191960
AA Change: I125F

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

SMART Domains

Protein: ENSMUSP00000141299
Gene: ENSMUSG00000103362
AA Change: I125F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	A	G	4: 126,244,670 (GRCm39)	V672A	possibly damaging	Het
Arhgef28	A	T	13: 98,187,536 (GRCm39)	V253D	possibly damaging	Het
Atg3	G	A	16: 44,998,680 (GRCm39)		probably benign	Het
Camsap1	T	C	2: 25,819,814 (GRCm39)	D1557G	probably damaging	Het
Cdh20	A	G	1: 110,065,921 (GRCm39)	T732A	probably damaging	Het
Cert1	A	G	13: 96,752,990 (GRCm39)	H348R	probably benign	Het
Cyp3a13	T	A	5: 137,908,229 (GRCm39)	I207F	probably benign	Het
Dock1	T	G	7: 134,683,649 (GRCm39)		probably null	Het
Drc7	A	T	8: 95,797,861 (GRCm39)		probably benign	Het
Drosha	C	A	15: 12,833,950 (GRCm39)	P18H	unknown	Het
Fbxl5	A	G	5: 43,922,690 (GRCm39)	S243P	possibly damaging	Het
Filip1	A	G	9: 79,727,408 (GRCm39)	C404R	probably damaging	Het
Gm5745	G	A	9: 73,082,780 (GRCm39)		noncoding transcript	Het
Gm7808	T	G	9: 19,839,347 (GRCm39)		probably benign	Het
Gpi-ps	C	T	8: 5,690,373 (GRCm39)		noncoding transcript	Het
Hcn3	T	C	3: 89,060,119 (GRCm39)	D175G	probably damaging	Het
Igkv1-117	A	T	6: 68,098,519 (GRCm39)	M23L	probably benign	Het
Kif26a	A	G	12: 112,123,941 (GRCm39)	D182G	probably damaging	Het
Lmbr1	A	G	5: 29,459,233 (GRCm39)		probably benign	Het
Lypd4	T	A	7: 24,564,865 (GRCm39)	Q91L	probably damaging	Het
Ncoa5	C	T	2: 164,844,760 (GRCm39)	A37T	probably damaging	Het
Or52ad1	G	A	7: 102,995,245 (GRCm39)	R297*	probably null	Het
Or56b1	A	G	7: 104,284,932 (GRCm39)	E17G	probably benign	Het
Or7g17	T	A	9: 18,768,286 (GRCm39)	C122S	possibly damaging	Het
Ppp1r18	A	G	17: 36,178,148 (GRCm39)	K8E	probably damaging	Het
Ppp3ca	A	G	3: 136,634,387 (GRCm39)		probably benign	Het
Ptpn12	T	A	5: 21,260,711 (GRCm39)	Q12L	probably benign	Het
Rpgrip1l	A	G	8: 91,959,535 (GRCm39)	F1122L	possibly damaging	Het
Rps15	G	T	10: 80,129,596 (GRCm39)	M43I	probably benign	Het
Rrp15	T	C	1: 186,453,592 (GRCm39)		probably benign	Het
Sash1	A	T	10: 8,616,098 (GRCm39)	M588K	probably damaging	Het
Slc12a7	A	G	13: 73,943,714 (GRCm39)		probably benign	Het
Slc25a13	A	G	6: 6,042,643 (GRCm39)	V587A	possibly damaging	Het
Sugct	T	C	13: 17,847,181 (GRCm39)	D34G	possibly damaging	Het
Trim52	T	A	14: 106,344,702 (GRCm39)	L120Q	probably damaging	Het
Vmn1r85	T	C	7: 12,818,711 (GRCm39)	I144M	probably damaging	Het
Vmn2r107	T	C	17: 20,595,823 (GRCm39)	F792S	probably damaging	Het
Vsnl1	A	G	12: 11,436,878 (GRCm39)	F34L	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
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
R6544:Tdpoz2	UTSW	3	93,559,267 (GRCm39)	missense	possibly damaging	0.81
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

Posted On

2015-04-16