Mutagenetix > Incidental Mutation

Incidental Mutation 'R9033:Tdpoz6'

687175

Institutional Source

Beutler Lab

Gene Symbol

Tdpoz6

Ensembl Gene

ENSMUSG00000103350

Gene Name

TD and POZ domain containing 6

Synonyms

Gm9107, Gm37596

MMRRC Submission

068862-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

R9033 (G1)

Quality Score

206.009

Status

Not validated

Chromosome

Chromosomal Location

93599357-93600377 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93600168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 67 (Y67C)

Ref Sequence

ENSEMBL: ENSMUSP00000142038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000193565]

AlphaFold

A0A0A6YXL2

Predicted Effect

probably damaging
Transcript: ENSMUST00000193565
AA Change: Y67C

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

SMART Domains

Protein: ENSMUSP00000142038
Gene: ENSMUSG00000103350
AA Change: Y67C

Domain	Start	End	E-Value	Type
MATH	20	126	5.8e-4	SMART
BTB	184	283	5.8e-26	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

94% (30/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	A	6: 92,808,934 (GRCm39)	G87D	unknown	Het
Actg1	T	C	11: 120,237,826 (GRCm39)	K238R	probably benign	Het
Arhgef10l	G	A	4: 140,321,463 (GRCm39)	R115C	probably damaging	Het
Aspm	T	C	1: 139,405,865 (GRCm39)	F1584S	probably damaging	Het
Atp2b4	C	T	1: 133,634,725 (GRCm39)	R1168H	probably benign	Het
Catsper1	G	A	19: 5,387,864 (GRCm39)		probably null	Het
Chgb	A	C	2: 132,634,914 (GRCm39)	K285N	probably damaging	Het
Csnk1g1	A	G	9: 65,915,070 (GRCm39)	Y243C	probably damaging	Het
Dpysl5	G	T	5: 30,948,941 (GRCm39)	D399Y	probably damaging	Het
Enam	A	G	5: 88,646,475 (GRCm39)	R259G	probably benign	Het
Foxf2	C	T	13: 31,810,085 (GRCm39)	P8L	unknown	Het
Fpr1	C	T	17: 18,097,691 (GRCm39)	W99*	probably null	Het
Itprid2	A	G	2: 79,465,938 (GRCm39)	S19G	probably damaging	Het
Kansl1	A	G	11: 104,248,356 (GRCm39)	S533P	probably benign	Het
Klhl25	T	A	7: 75,516,681 (GRCm39)	M529K	probably damaging	Het
Mtss2	G	A	8: 111,465,651 (GRCm39)	R697H	probably damaging	Het
Nup210l	G	A	3: 90,105,396 (GRCm39)	V1515I	probably benign	Het
Pcdh15	T	C	10: 74,302,138 (GRCm39)	F926L	probably damaging	Het
Pfkfb2	T	A	1: 130,626,475 (GRCm39)	K433*	probably null	Het
Pirb	G	C	7: 3,720,584 (GRCm39)	Q305E	probably benign	Het
Pld5	T	C	1: 175,967,585 (GRCm39)	D90G	probably damaging	Het
Rergl	T	C	6: 139,471,900 (GRCm39)	Y83C	probably damaging	Het
Rorb	G	A	19: 18,965,422 (GRCm39)		probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Shank2	A	G	7: 143,965,236 (GRCm39)	Q948R	probably damaging	Het
Slc4a5	C	T	6: 83,237,457 (GRCm39)	R147*	probably null	Het
Tdrd7	G	T	4: 46,007,468 (GRCm39)	D507Y	probably damaging	Het
Tspan31	C	A	10: 126,904,349 (GRCm39)		probably benign	Het
Usp40	T	C	1: 87,923,499 (GRCm39)		probably benign	Het
Vmn2r74	A	T	7: 85,606,414 (GRCm39)	Y311N	probably benign	Het
Zbtb11	T	A	16: 55,818,492 (GRCm39)	S639T	probably benign	Het
Zfp52	T	C	17: 21,780,655 (GRCm39)	F168L	possibly damaging	Het

Other mutations in Tdpoz6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4407:Tdpoz6	UTSW	3	93,599,419 (GRCm39)	missense	probably benign	0.00
R4665:Tdpoz6	UTSW	3	93,599,776 (GRCm39)	missense	probably damaging	1.00
R4815:Tdpoz6	UTSW	3	93,599,593 (GRCm39)	missense	probably benign	0.44
R5664:Tdpoz6	UTSW	3	93,599,994 (GRCm39)	missense	probably benign	0.15
R6465:Tdpoz6	UTSW	3	93,600,303 (GRCm39)	missense	probably damaging	1.00
R6937:Tdpoz6	UTSW	3	93,599,523 (GRCm39)	missense	probably benign	0.04
R7467:Tdpoz6	UTSW	3	93,600,265 (GRCm39)	missense	probably benign
R7943:Tdpoz6	UTSW	3	93,600,070 (GRCm39)	missense	probably benign	0.00
R8132:Tdpoz6	UTSW	3	93,599,452 (GRCm39)	nonsense	probably null
R8927:Tdpoz6	UTSW	3	93,599,950 (GRCm39)	missense	probably benign	0.20
R8928:Tdpoz6	UTSW	3	93,599,950 (GRCm39)	missense	probably benign	0.20
R9023:Tdpoz6	UTSW	3	93,599,742 (GRCm39)	missense	probably damaging	1.00
R9355:Tdpoz6	UTSW	3	93,600,307 (GRCm39)	missense	possibly damaging	0.58
R9728:Tdpoz6	UTSW	3	93,599,807 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTTTTCAGGGAGAAGCCGAC -3'
(R):5'- AACTGGGGCTACACACATATC -3'

Sequencing Primer
(F):5'- GATGAGGAAATCTCCAAGGATGAAC -3'
(R):5'- CACATATCAGTGTTAAGGAATTCTGC -3'

Posted On

2021-11-19