Mutagenetix > Incidental Mutation

Incidental Mutation 'R6909:Tdpoz3'

538910

Institutional Source

Beutler Lab

Gene Symbol

Tdpoz3

Ensembl Gene

ENSMUSG00000058005

Gene Name

TD and POZ domain containing 3

Synonyms

MMRRC Submission

045001-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R6909 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93733327-93734424 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93733772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 149 (V149E)

Ref Sequence

ENSEMBL: ENSMUSP00000080472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081780]

AlphaFold

Q717B4

Predicted Effect

probably damaging
Transcript: ENSMUST00000081780
AA Change: V149E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080472
Gene: ENSMUSG00000058005
AA Change: V149E

Domain	Start	End	E-Value	Type
MATH	24	130	1.72e-3	SMART
BTB	188	287	3.98e-24	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,006,323 (GRCm39)	Q1261K	probably benign	Het
Acp3	T	C	9: 104,178,164 (GRCm39)	Y329C	probably damaging	Het
Agrn	G	T	4: 156,261,464 (GRCm39)	H585N	possibly damaging	Het
Ano1	G	A	7: 144,209,468 (GRCm39)	T211M	probably damaging	Het
Atic	T	G	1: 71,616,005 (GRCm39)		probably null	Het
Catsperd	T	A	17: 56,957,781 (GRCm39)	S229R	probably damaging	Het
Ccdc168	C	T	1: 44,098,935 (GRCm39)	R721Q	possibly damaging	Het
Cfap210	A	T	2: 69,612,192 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,425,815 (GRCm39)	Y418C	probably damaging	Het
Cibar1	T	C	4: 12,168,309 (GRCm39)	T97A	probably benign	Het
Cmya5	T	C	13: 93,227,760 (GRCm39)	T2443A	probably benign	Het
Dysf	A	T	6: 84,169,920 (GRCm39)	E1772V	probably damaging	Het
Eps8l1	T	A	7: 4,472,899 (GRCm39)	L107*	probably null	Het
Fpr3	T	A	17: 18,191,429 (GRCm39)	F233L	probably benign	Het
Gjc2	A	T	11: 59,067,918 (GRCm39)	V188E	unknown	Het
Gm45861	T	A	8: 28,017,109 (GRCm39)	Y690N	unknown	Het
Gsdma2	T	A	11: 98,543,383 (GRCm39)	C224*	probably null	Het
Gucy2d	T	A	7: 98,116,832 (GRCm39)	Y881N	probably damaging	Het
Hcn3	A	G	3: 89,059,936 (GRCm39)		probably null	Het
Hectd1	G	T	12: 51,810,945 (GRCm39)		probably null	Het
Ifitm5	A	G	7: 140,529,172 (GRCm39)	F146L	probably benign	Het
Impg2	T	C	16: 56,024,947 (GRCm39)	F18S	probably damaging	Het
Ino80c	T	A	18: 24,241,812 (GRCm39)		probably benign	Het
Itga10	A	G	3: 96,569,915 (GRCm39)	H1109R	probably benign	Het
Kdm3b	T	A	18: 34,960,381 (GRCm39)		probably null	Het
Klra8	T	G	6: 130,102,123 (GRCm39)	N104T	probably benign	Het
Llgl2	G	A	11: 115,741,625 (GRCm39)	C585Y	probably damaging	Het
Lmod2	T	A	6: 24,604,157 (GRCm39)	D377E	probably benign	Het
Lrat	G	A	3: 82,810,961 (GRCm39)	S20F	probably damaging	Het
Lrrc43	T	A	5: 123,638,482 (GRCm39)	H363Q	probably benign	Het
Lyst	T	G	13: 13,917,960 (GRCm39)	I3340S	probably damaging	Het
Magi1	C	A	6: 93,674,301 (GRCm39)	G948W	probably damaging	Het
Map3k4	A	C	17: 12,489,872 (GRCm39)	F520V	probably damaging	Het
Mcm4	A	T	16: 15,446,561 (GRCm39)	N607K	probably damaging	Het
Mta3	T	C	17: 84,073,980 (GRCm39)	V216A	possibly damaging	Het
Ncor1	C	A	11: 62,220,312 (GRCm39)	G2131V	probably damaging	Het
Or10ag2	A	G	2: 87,248,959 (GRCm39)	H189R	probably damaging	Het
Or2z9	T	A	8: 72,854,372 (GRCm39)	V256E	possibly damaging	Het
Or5d16	A	G	2: 87,773,034 (GRCm39)	S313P	probably benign	Het
Or9k7	T	A	10: 130,046,622 (GRCm39)	I126L	probably benign	Het
Pramel12	T	C	4: 143,144,479 (GRCm39)	L275P	probably damaging	Het
Ptpn2	A	T	18: 67,809,041 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,438,856 (GRCm39)	I1671T	probably damaging	Het
Scyl2	A	T	10: 89,481,604 (GRCm39)	S622T	probably benign	Het
Sim1	C	T	10: 50,785,506 (GRCm39)	R192C	possibly damaging	Het
Skor2	A	G	18: 76,948,252 (GRCm39)	H658R	possibly damaging	Het
Slc10a5	A	G	3: 10,400,655 (GRCm39)	S2P	possibly damaging	Het
Slc37a4	A	T	9: 44,311,331 (GRCm39)	K207N	possibly damaging	Het
Syne2	G	T	12: 76,110,969 (GRCm39)	V5768L	probably benign	Het
Tekt5	T	C	16: 10,176,165 (GRCm39)	N460S	probably damaging	Het
Tk2	G	T	8: 104,963,442 (GRCm39)	Y142*	probably null	Het
Tkfc	T	A	19: 10,573,630 (GRCm39)	Q236L	probably benign	Het
Tln2	G	A	9: 67,299,814 (GRCm39)	T148I	probably damaging	Het
Trim62	A	G	4: 128,778,021 (GRCm39)	D20G	probably damaging	Het
Tspan14	A	C	14: 40,635,398 (GRCm39)	V166G	probably benign	Het
Ttn	A	T	2: 76,712,065 (GRCm39)		probably benign	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn2r117	C	G	17: 23,698,479 (GRCm39)	Q31H	possibly damaging	Het
Zfp87	T	C	13: 74,519,861 (GRCm39)	T406A	possibly damaging	Het

Other mutations in Tdpoz3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03008:Tdpoz3	APN	3	93,733,642 (GRCm39)	nonsense	probably null
FR4342:Tdpoz3	UTSW	3	93,733,819 (GRCm39)	missense	probably benign	0.09
FR4737:Tdpoz3	UTSW	3	93,733,981 (GRCm39)	missense	probably benign
R0270:Tdpoz3	UTSW	3	93,734,231 (GRCm39)	missense	probably benign	0.00
R0401:Tdpoz3	UTSW	3	93,733,672 (GRCm39)	missense	probably benign	0.00
R0961:Tdpoz3	UTSW	3	93,734,188 (GRCm39)	missense	probably benign	0.13
R1381:Tdpoz3	UTSW	3	93,733,447 (GRCm39)	missense	probably benign	0.04
R1615:Tdpoz3	UTSW	3	93,733,618 (GRCm39)	missense	probably benign	0.01
R2142:Tdpoz3	UTSW	3	93,734,206 (GRCm39)	missense	probably benign	0.02
R2156:Tdpoz3	UTSW	3	93,734,087 (GRCm39)	missense	probably damaging	1.00
R2872:Tdpoz3	UTSW	3	93,733,735 (GRCm39)	missense	probably benign	0.01
R2872:Tdpoz3	UTSW	3	93,733,735 (GRCm39)	missense	probably benign	0.01
R3928:Tdpoz3	UTSW	3	93,734,216 (GRCm39)	missense	possibly damaging	0.48
R4011:Tdpoz3	UTSW	3	93,733,550 (GRCm39)	missense	possibly damaging	0.71
R4611:Tdpoz3	UTSW	3	93,734,330 (GRCm39)	missense	probably damaging	0.97
R4747:Tdpoz3	UTSW	3	93,733,476 (GRCm39)	missense	possibly damaging	0.63
R4934:Tdpoz3	UTSW	3	93,734,287 (GRCm39)	missense	probably benign	0.03
R5090:Tdpoz3	UTSW	3	93,733,870 (GRCm39)	missense	possibly damaging	0.82
R5389:Tdpoz3	UTSW	3	93,734,179 (GRCm39)	missense	probably benign	0.08
R7095:Tdpoz3	UTSW	3	93,734,368 (GRCm39)	missense	probably benign	0.16
R7152:Tdpoz3	UTSW	3	93,733,772 (GRCm39)	missense	probably damaging	1.00
R8473:Tdpoz3	UTSW	3	93,733,870 (GRCm39)	missense	possibly damaging	0.82
R8949:Tdpoz3	UTSW	3	93,734,399 (GRCm39)	missense	probably benign	0.00
R9667:Tdpoz3	UTSW	3	93,733,336 (GRCm39)	missense	possibly damaging	0.50
R9694:Tdpoz3	UTSW	3	93,734,156 (GRCm39)	missense	probably benign	0.22
Z1177:Tdpoz3	UTSW	3	93,734,141 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCAATTCTGGCAAAGTTCG -3'
(R):5'- CAAACATGGCTCTGAAAACTGG -3'

Sequencing Primer
(F):5'- CCAATTCTGGCAAAGTTCGAGTTCTG -3'
(R):5'- GCGAGCTGCTAGGATTGC -3'

Posted On

2018-11-06