Mutagenetix > Incidental Mutation

Incidental Mutation 'R4011:Tdpoz3'

311681

Institutional Source

Beutler Lab

Gene Symbol

Tdpoz3

Ensembl Gene

ENSMUSG00000058005

Gene Name

TD and POZ domain containing 3

Synonyms

MMRRC Submission

040948-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R4011 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

93733327-93734424 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93733550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 75 (Y75F)

Ref Sequence

ENSEMBL: ENSMUSP00000080472 (fasta)

Gene Model

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

AlphaFold

Q717B4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081780
AA Change: Y75F

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080472
Gene: ENSMUSG00000058005
AA Change: Y75F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,572,013 (GRCm39)		probably benign	Het
Acss2	T	A	2: 155,399,548 (GRCm39)	L529Q	probably damaging	Het
Adsl	T	C	15: 80,850,357 (GRCm39)	S359P	probably benign	Het
C1qtnf1	G	A	11: 118,337,365 (GRCm39)	G65D	probably benign	Het
Chd1l	A	T	3: 97,477,718 (GRCm39)	M679K	probably benign	Het
Cspg4	A	G	9: 56,794,601 (GRCm39)	T779A	probably benign	Het
Ddx18	T	C	1: 121,489,810 (GRCm39)	I200V	probably benign	Het
Dnah9	T	A	11: 65,725,290 (GRCm39)	M4288L	probably damaging	Het
F830045P16Rik	A	T	2: 129,305,467 (GRCm39)	N302K	probably damaging	Het
Gas1	T	G	13: 60,323,791 (GRCm39)	D322A	unknown	Het
Gfm2	T	A	13: 97,279,608 (GRCm39)		probably benign	Het
Gm5592	G	T	7: 40,938,934 (GRCm39)	V739L	probably benign	Het
Hbb-bh2	T	A	7: 103,489,416 (GRCm39)	H45L	probably benign	Het
Ifit2	G	T	19: 34,551,445 (GRCm39)	M328I	probably benign	Het
Igdcc4	T	C	9: 65,042,761 (GRCm39)	V1237A	probably benign	Het
Kat2b	G	A	17: 53,951,769 (GRCm39)		probably null	Het
Lmtk2	A	G	5: 144,112,697 (GRCm39)	N1139S	probably benign	Het
Map1a	G	A	2: 121,130,608 (GRCm39)	A475T	probably damaging	Het
Map3k20	G	A	2: 72,214,468 (GRCm39)		probably benign	Het
Mga	T	C	2: 119,762,261 (GRCm39)	V1084A	probably damaging	Het
Msantd5f6	T	C	4: 73,320,047 (GRCm39)	Y244C	probably damaging	Het
Myo3b	A	G	2: 69,926,720 (GRCm39)	I5V	probably benign	Het
Or10a3m	A	T	7: 108,313,366 (GRCm39)	I269L	probably benign	Het
Or10ag56	A	G	2: 87,139,555 (GRCm39)	I141V	probably benign	Het
Or10ag57	A	T	2: 87,218,924 (GRCm39)	I292F	possibly damaging	Het
Or56b1	A	G	7: 104,285,555 (GRCm39)	T225A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or5v1	T	C	17: 37,810,382 (GRCm39)	V280A	possibly damaging	Het
Osmr	G	T	15: 6,854,014 (GRCm39)	R565S	probably benign	Het
Pcolce	G	T	5: 137,604,036 (GRCm39)	Q344K	probably benign	Het
Prdm11	A	G	2: 92,843,175 (GRCm39)	F95L	probably damaging	Het
Psd2	C	T	18: 36,120,300 (GRCm39)	T383I	probably benign	Het
Reg3a	G	A	6: 78,360,553 (GRCm39)	D164N	probably damaging	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Sgce	G	T	6: 4,691,563 (GRCm39)	Y301*	probably null	Het
Slc28a3	T	C	13: 58,714,064 (GRCm39)	K434E	probably benign	Het
Slc30a3	A	G	5: 31,244,203 (GRCm39)	F360L	probably damaging	Het
Trim65	A	G	11: 116,018,529 (GRCm39)	F249L	probably benign	Het
Tubgcp3	A	T	8: 12,689,634 (GRCm39)	L544*	probably null	Het
Vit	C	T	17: 78,842,121 (GRCm39)		probably benign	Het
Wdfy4	C	A	14: 32,824,637 (GRCm39)		probably benign	Het
Xpo6	T	C	7: 125,739,780 (GRCm39)	K431E	probably benign	Het
Xrn1	T	A	9: 95,867,278 (GRCm39)	Y545*	probably null	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
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
R6909:Tdpoz3	UTSW	3	93,733,772 (GRCm39)	missense	probably damaging	1.00
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'- TGGAATTCAAGAGCTGGGGC -3'
(R):5'- GGTCTTCAGGGAGAAACCAATTC -3'

Sequencing Primer
(F):5'- TGGGGCTACACACAGATCAATGTC -3'
(R):5'- CTTCAGGGAGAAACCAATTCATATGG -3'

Posted On

2015-04-29