Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Tdpoz2'

514311

Institutional Source

Beutler Lab

Gene Symbol

Tdpoz2

Ensembl Gene

ENSMUSG00000103362

Gene Name

TD and POZ domain containing 2

Synonyms

MMRRC Submission

044492-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.444) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93558849-93559993 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93559643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 110 (V110I)

Ref Sequence

ENSEMBL: ENSMUSP00000141299 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000191960
AA Change: V110I

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141299
Gene: ENSMUSG00000103362
AA Change: V110I

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: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 97,906,922 (GRCm39)	Y128C	probably damaging	Het
Adam30	T	G	3: 98,068,857 (GRCm39)	I102S	probably damaging	Het
Adcy8	A	T	15: 64,792,466 (GRCm39)	D163E	possibly damaging	Het
Agrn	C	T	4: 156,255,042 (GRCm39)	E1614K	probably benign	Het
Aldh16a1	A	T	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,687,490 (GRCm39)	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,664,070 (GRCm39)	S738G	probably benign	Het
Arid5b	C	A	10: 67,934,391 (GRCm39)	G504*	probably null	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,899,154 (GRCm39)	D186V	probably damaging	Het
Cdh23	T	C	10: 60,248,930 (GRCm39)	D882G	probably damaging	Het
Cdh4	T	C	2: 179,532,605 (GRCm39)	V689A	probably damaging	Het
Cntn6	T	A	6: 104,703,100 (GRCm39)	V174E	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,982,492 (GRCm39)	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,244,896 (GRCm39)	E55G	probably damaging	Het
Efcab3	C	T	11: 104,734,034 (GRCm39)	R2027*	probably null	Het
Fam13a	A	G	6: 58,930,484 (GRCm39)	V476A	probably damaging	Het
Fem1b	A	T	9: 62,704,293 (GRCm39)	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489 (GRCm39)	V466I	probably benign	Het
Gm20671	A	T	5: 32,977,991 (GRCm39)	D1794E	probably damaging	Het
Gpatch2	G	T	1: 186,957,711 (GRCm39)	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,465,880 (GRCm39)	T450A	probably benign	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Krit1	T	G	5: 3,886,857 (GRCm39)	M702R	probably benign	Het
Krt34	T	C	11: 99,929,316 (GRCm39)	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,612,376 (GRCm39)	N376K	possibly damaging	Het
Myo15a	A	G	11: 60,368,959 (GRCm39)	E573G	probably damaging	Het
Or11j4	T	A	14: 50,630,857 (GRCm39)	F215I	possibly damaging	Het
Or1af1	A	T	2: 37,109,834 (GRCm39)	D111V	probably damaging	Het
Or1e31	A	T	11: 73,690,145 (GRCm39)	L146Q	possibly damaging	Het
Or2y17	A	G	11: 49,231,694 (GRCm39)	S112G	probably benign	Het
Or4c119	T	A	2: 88,986,715 (GRCm39)	K268I	probably damaging	Het
Or56b2	T	A	7: 104,337,378 (GRCm39)	V52E	possibly damaging	Het
Phf20	A	T	2: 156,115,606 (GRCm39)	Q309L	possibly damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Pold3	A	G	7: 99,737,312 (GRCm39)	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,630,505 (GRCm39)		probably null	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,318,360 (GRCm39)	E843G	possibly damaging	Het
Rai14	T	C	15: 10,575,062 (GRCm39)	D632G	probably damaging	Het
Rnf149	A	T	1: 39,599,823 (GRCm39)	C268S	probably null	Het
Slc6a13	T	A	6: 121,311,798 (GRCm39)	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,338,492 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,232,581 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,527,966 (GRCm39)	V1408I	probably benign	Het
Suclg1	T	C	6: 73,241,229 (GRCm39)	I183T	probably damaging	Het
Syne1	T	C	10: 5,205,475 (GRCm39)	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,706,361 (GRCm39)	R121*	probably null	Het
Ubn2	A	G	6: 38,467,649 (GRCm39)	T788A	probably benign	Het
Unc13c	T	A	9: 73,641,729 (GRCm39)	I1255F	probably damaging	Het
Usp44	G	T	10: 93,682,375 (GRCm39)	R275I	probably damaging	Het
Uspl1	A	G	5: 149,151,844 (GRCm39)	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,724,849 (GRCm39)	D170E	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GCCTAGGTCATCTGTCAACATG -3'
(R):5'- TCTCCTTAGAGGCCAATGAGG -3'

Sequencing Primer
(F):5'- ATCTGTCAACATGTGTCTTGGATC -3'
(R):5'- CTCCTTAGAGGCCAATGAGGAAGTG -3'

Posted On

2018-04-27