Mutagenetix > Incidental Mutation

Incidental Mutation 'R5474:Zfta'

433993

Institutional Source

Beutler Lab

Gene Symbol

Zfta

Ensembl Gene

ENSMUSG00000053080

Gene Name

zinc finger translocation associated

Synonyms

2700081O15Rik

MMRRC Submission

043035-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5474 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7394990-7403269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7397524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 24 (R24W)

Ref Sequence

ENSEMBL: ENSMUSP00000139847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159348] [ENSMUST00000161907]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000159346

SMART Domains

Protein: ENSMUSP00000124442
Gene: ENSMUSG00000053080

Domain	Start	End	E-Value	Type
coiled coil region	14	41	N/A	INTRINSIC
low complexity region	42	67	N/A	INTRINSIC
low complexity region	72	97	N/A	INTRINSIC
low complexity region	178	215	N/A	INTRINSIC
ZnF_C2H2	231	256	2.06e1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000159348
AA Change: R78W

SMART Domains

Protein: ENSMUSP00000123773
Gene: ENSMUSG00000053080
AA Change: R78W

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	46	58	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC
ZnF_C2H2	124	149	3.38e1	SMART
low complexity region	171	201	N/A	INTRINSIC
low complexity region	205	230	N/A	INTRINSIC
low complexity region	235	260	N/A	INTRINSIC
ZnF_C2H2	283	308	1.06e2	SMART
low complexity region	382	419	N/A	INTRINSIC
ZnF_C2H2	435	460	2.06e1	SMART
low complexity region	491	522	N/A	INTRINSIC
low complexity region	540	547	N/A	INTRINSIC
low complexity region	557	572	N/A	INTRINSIC
ZnF_C2H2	600	625	2.54e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160561

SMART Domains

Protein: ENSMUSP00000124645
Gene: ENSMUSG00000053080

Domain	Start	End	E-Value	Type
ZnF_C2H2	10	35	1.06e2	SMART
low complexity region	109	146	N/A	INTRINSIC
ZnF_C2H2	162	187	2.06e1	SMART
low complexity region	218	249	N/A	INTRINSIC
low complexity region	267	274	N/A	INTRINSIC
low complexity region	284	299	N/A	INTRINSIC
ZnF_C2H2	327	352	2.54e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161907
AA Change: R24W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139847
Gene: ENSMUSG00000053080
AA Change: R24W

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
low complexity region	45	54	N/A	INTRINSIC
ZnF_C2H2	70	95	1.4e-1	SMART
coiled coil region	124	151	N/A	INTRINSIC
low complexity region	173	180	N/A	INTRINSIC
low complexity region	190	205	N/A	INTRINSIC
ZnF_C2H2	233	258	1.1e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189779

Predicted Effect

probably benign
Transcript: ENSMUST00000191580

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 95.0%
20x: 90.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	C	T	12: 118,904,425 (GRCm39)	G122S	probably null	Het
Ankmy1	T	C	1: 92,812,926 (GRCm39)	D461G	possibly damaging	Het
Ascc3	T	C	10: 50,725,634 (GRCm39)	I2119T	probably benign	Het
Bud13	G	C	9: 46,199,251 (GRCm39)	R204T	probably damaging	Het
Clec4a4	T	C	6: 122,989,706 (GRCm39)	S116P	probably damaging	Het
Cnga1	T	C	5: 72,762,536 (GRCm39)	Y326C	probably damaging	Het
Cngb1	A	T	8: 95,978,597 (GRCm39)	I588N	probably damaging	Het
Cspg5	A	T	9: 110,080,076 (GRCm39)	I334F	probably damaging	Het
Cyp2c29	G	A	19: 39,313,436 (GRCm39)	A350T	probably damaging	Het
D5Ertd579e	G	T	5: 36,772,601 (GRCm39)	S598Y	probably damaging	Het
Dgkq	A	G	5: 108,797,009 (GRCm39)		probably null	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock4	T	C	12: 40,795,730 (GRCm39)	I849T	probably benign	Het
Drd4	T	C	7: 140,873,641 (GRCm39)	W98R	probably damaging	Het
Duox1	A	T	2: 122,177,106 (GRCm39)	Q1511L	probably benign	Het
Gtdc1	A	T	2: 44,646,379 (GRCm39)	L83Q	probably damaging	Het
H2-T3	G	A	17: 36,500,999 (GRCm39)	P6S	probably damaging	Het
H6pd	A	G	4: 150,080,546 (GRCm39)	C92R	probably damaging	Het
Ide	A	G	19: 37,249,583 (GRCm39)	V923A	unknown	Het
Kcnc4	A	T	3: 107,355,207 (GRCm39)	S414T	possibly damaging	Het
Krt14	A	T	11: 100,095,571 (GRCm39)	M278K	probably damaging	Het
Lrit1	T	A	14: 36,783,943 (GRCm39)	S424T	probably benign	Het
Muc4	G	A	16: 32,581,635 (GRCm39)	S2500N	unknown	Het
Ncs1	A	T	2: 31,170,796 (GRCm39)	N70Y	probably damaging	Het
Nemf	C	A	12: 69,363,109 (GRCm39)	R923L	probably benign	Het
Nrros	T	C	16: 31,963,170 (GRCm39)	I246M	probably benign	Het
Or5w13	G	A	2: 87,523,401 (GRCm39)	S275F	probably damaging	Het
Or6a2	T	A	7: 106,600,296 (GRCm39)	Y257F	probably damaging	Het
Or8g51	T	A	9: 38,609,609 (GRCm39)	T18S	possibly damaging	Het
Polb	A	G	8: 23,120,386 (GRCm39)	Y296H	probably benign	Het
Prrc2a	A	T	17: 35,378,189 (GRCm39)	F440L	unknown	Het
Prrc2c	T	C	1: 162,537,213 (GRCm39)		probably benign	Het
Ptprk	C	T	10: 28,372,926 (GRCm39)	R726*	probably null	Het
Rnpc3	A	T	3: 113,409,158 (GRCm39)	L247*	probably null	Het
Scfd2	C	T	5: 74,692,025 (GRCm39)	V86I	probably benign	Het
Sec14l5	A	G	16: 4,996,382 (GRCm39)	T443A	possibly damaging	Het
Slc22a29	A	G	19: 8,195,221 (GRCm39)	V138A	probably damaging	Het
Usp15	T	C	10: 122,963,950 (GRCm39)	D524G	probably damaging	Het
Vav3	A	G	3: 109,571,737 (GRCm39)	T220A	probably benign	Het
Vmn2r17	G	A	5: 109,582,150 (GRCm39)	S513N	probably damaging	Het
Zfp84	C	T	7: 29,476,514 (GRCm39)	S402L	probably damaging	Het

Other mutations in Zfta

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02376:Zfta	APN	19	7,399,741 (GRCm39)	missense	probably damaging	1.00
IGL02814:Zfta	APN	19	7,397,787 (GRCm39)	missense	possibly damaging	0.94
H8562:Zfta	UTSW	19	7,400,286 (GRCm39)	missense	probably benign	0.01
R0034:Zfta	UTSW	19	7,397,724 (GRCm39)	missense	probably damaging	1.00
R0583:Zfta	UTSW	19	7,397,639 (GRCm39)	missense	probably damaging	1.00
R2351:Zfta	UTSW	19	7,399,609 (GRCm39)	missense	probably damaging	1.00
R4326:Zfta	UTSW	19	7,398,591 (GRCm39)	intron	probably benign
R4329:Zfta	UTSW	19	7,398,591 (GRCm39)	intron	probably benign
R5735:Zfta	UTSW	19	7,400,161 (GRCm39)	missense	probably benign
R6168:Zfta	UTSW	19	7,400,305 (GRCm39)	missense	probably benign	0.40
R6739:Zfta	UTSW	19	7,398,712 (GRCm39)	nonsense	probably null
R7780:Zfta	UTSW	19	7,399,737 (GRCm39)	missense	probably damaging	0.96
R7855:Zfta	UTSW	19	7,399,621 (GRCm39)	missense	probably damaging	1.00
R8550:Zfta	UTSW	19	7,400,320 (GRCm39)	missense	probably benign	0.00
R9423:Zfta	UTSW	19	7,397,624 (GRCm39)	missense	probably damaging	1.00
R9429:Zfta	UTSW	19	7,399,594 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfta	UTSW	19	7,400,112 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTTCAGCAAGCTAGCCCAG -3'
(R):5'- GCGAATGTGCCTCTTGATGG -3'

Sequencing Primer
(F):5'- AAGCTAGCCCAGTGCCC -3'
(R):5'- CCTCTTGATGGTGCTGAGC -3'

Posted On

2016-10-06