Mutagenetix > Incidental Mutation

Incidental Mutation 'R6157:Zfp534'

512245

Institutional Source

Beutler Lab

Gene Symbol

Zfp534

Ensembl Gene

ENSMUSG00000062518

Gene Name

zinc finger protein 534

Synonyms

Gm13159

MMRRC Submission

044304-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.457) question?

Stock #

R6157 (G1)

Quality Score

60.0073

Status

Validated

Chromosome

Chromosomal Location

147757959-147787010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 147758947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 574 (R574K)

Ref Sequence

ENSEMBL: ENSMUSP00000113561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117638]

AlphaFold

A2A7A1

Predicted Effect

probably benign
Transcript: ENSMUST00000117638
AA Change: R574K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113561
Gene: ENSMUSG00000062518
AA Change: R574K

Domain	Start	End	E-Value	Type
KRAB	13	76	4.74e-16	SMART
ZnF_C2H2	240	262	2.61e-4	SMART
ZnF_C2H2	268	290	4.01e-5	SMART
ZnF_C2H2	296	318	1.3e-4	SMART
ZnF_C2H2	324	346	1.3e-4	SMART
ZnF_C2H2	352	374	1.47e-3	SMART
ZnF_C2H2	380	402	9.73e-4	SMART
ZnF_C2H2	408	430	1.95e-3	SMART
ZnF_C2H2	436	458	1.47e-3	SMART
ZnF_C2H2	464	486	4.3e-5	SMART
ZnF_C2H2	492	514	1.3e-4	SMART
ZnF_C2H2	520	542	2.57e-3	SMART
ZnF_C2H2	548	570	7.9e-4	SMART
ZnF_C2H2	576	598	3.95e-4	SMART
ZnF_C2H2	604	626	4.3e-5	SMART
ZnF_C2H2	632	654	5.21e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147722

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 93.1%

Validation Efficiency

93% (40/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,947,617 (GRCm39)	K505E	possibly damaging	Het
Abcb1b	A	T	5: 8,874,245 (GRCm39)	N390I	possibly damaging	Het
Apob	A	T	12: 8,056,077 (GRCm39)	M1520L	probably benign	Het
Atg4c	C	T	4: 99,123,400 (GRCm39)	R396*	probably null	Het
Atp2a3	G	A	11: 72,871,442 (GRCm39)	V648M	probably damaging	Het
Blm	T	C	7: 80,162,733 (GRCm39)	D203G	probably benign	Het
Csrnp3	A	T	2: 65,779,363 (GRCm39)	D13V	probably damaging	Het
Dnajc10	A	T	2: 80,147,735 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,250,253 (GRCm39)	Y1729C	probably damaging	Het
Dynlt2b	G	A	16: 32,238,660 (GRCm39)	A12T	possibly damaging	Het
Ecsit	T	C	9: 21,985,987 (GRCm39)	Y213C	probably damaging	Het
Fer	A	G	17: 64,385,880 (GRCm39)	K654R	probably damaging	Het
Hdac9	G	T	12: 34,439,428 (GRCm39)	A383E	probably damaging	Het
Hltf	T	A	3: 20,130,660 (GRCm39)	S293T	probably benign	Het
Hydin	T	A	8: 111,254,648 (GRCm39)	D2359E	probably benign	Het
Inf2	A	G	12: 112,571,222 (GRCm39)		probably benign	Het
Kcns2	A	G	15: 34,839,504 (GRCm39)	N289S	possibly damaging	Het
Meioc	T	C	11: 102,559,227 (GRCm39)	S50P	probably damaging	Het
Mocs1	G	T	17: 49,761,764 (GRCm39)	E619D	probably benign	Het
Nfatc2	A	G	2: 168,361,371 (GRCm39)		probably benign	Het
Or51i1	T	A	7: 103,671,105 (GRCm39)	N140I	possibly damaging	Het
Pag1	A	T	3: 9,758,896 (GRCm39)	H407Q	probably benign	Het
Plaat1	A	G	16: 29,036,501 (GRCm39)	I46M	possibly damaging	Het
Plcb3	G	A	19: 6,943,533 (GRCm39)	A122V	probably damaging	Het
Pld4	C	T	12: 112,734,535 (GRCm39)	T432I	probably damaging	Het
Psd3	T	G	8: 68,574,179 (GRCm39)	M1L	probably benign	Het
Rasgrp2	C	A	19: 6,452,531 (GRCm39)	L35I	probably damaging	Het
Ripor2	T	C	13: 24,885,052 (GRCm39)	L390P	probably damaging	Het
Rpgrip1	A	T	14: 52,349,631 (GRCm39)	E6D	probably benign	Het
Ryr3	A	T	2: 112,672,244 (GRCm39)	L1409Q	probably damaging	Het
Slc6a5	A	G	7: 49,601,250 (GRCm39)	T684A	probably benign	Het
Smpd4	G	T	16: 17,458,930 (GRCm39)		probably null	Het
Snx18	T	C	13: 113,753,725 (GRCm39)	S403G	probably damaging	Het
Spsb4	G	T	9: 96,878,160 (GRCm39)	H54Q	probably damaging	Het
Ssrp1	A	G	2: 84,871,072 (GRCm39)	Y236C	probably damaging	Het
Tenm3	C	T	8: 48,751,843 (GRCm39)	S982N	probably damaging	Het
Tet1	A	G	10: 62,675,749 (GRCm39)	S776P	probably damaging	Het
Tln1	G	A	4: 43,534,744 (GRCm39)	P2166S	probably benign	Het
Ufl1	T	A	4: 25,279,350 (GRCm39)	Q83L	possibly damaging	Het
Unc80	A	T	1: 66,693,188 (GRCm39)	K2458*	probably null	Het
Ush2a	A	T	1: 188,460,467 (GRCm39)	Y2576F	probably benign	Het
Xrcc6	C	A	15: 81,913,305 (GRCm39)		probably null	Het
Zbtb48	A	G	4: 152,106,064 (GRCm39)	F380L	probably damaging	Het

Other mutations in Zfp534

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT1430001:Zfp534	UTSW	4	147,759,917 (GRCm39)	missense	probably benign
PIT1430001:Zfp534	UTSW	4	147,759,880 (GRCm39)	missense	probably benign
PIT4142001:Zfp534	UTSW	4	147,762,770 (GRCm39)	missense	probably benign	0.13
PIT4142001:Zfp534	UTSW	4	147,760,031 (GRCm39)	missense	probably benign
R0765:Zfp534	UTSW	4	147,758,693 (GRCm39)	missense	probably damaging	0.99
R4368:Zfp534	UTSW	4	147,760,015 (GRCm39)	missense	probably benign	0.15
R4660:Zfp534	UTSW	4	147,759,175 (GRCm39)	missense	probably benign	0.00
R4816:Zfp534	UTSW	4	147,758,743 (GRCm39)	missense	possibly damaging	0.81
R5520:Zfp534	UTSW	4	147,759,887 (GRCm39)	missense	possibly damaging	0.58
R5577:Zfp534	UTSW	4	147,759,173 (GRCm39)	missense	probably damaging	1.00
R6154:Zfp534	UTSW	4	147,759,145 (GRCm39)	missense	probably benign	0.18
R6374:Zfp534	UTSW	4	147,759,299 (GRCm39)	missense	probably benign	0.44
R6610:Zfp534	UTSW	4	147,758,947 (GRCm39)	missense	probably benign
R6764:Zfp534	UTSW	4	147,759,175 (GRCm39)	missense	probably benign	0.00
R6803:Zfp534	UTSW	4	147,758,926 (GRCm39)	missense	probably damaging	1.00
R6866:Zfp534	UTSW	4	147,758,938 (GRCm39)	missense	probably benign	0.18
R7027:Zfp534	UTSW	4	147,759,667 (GRCm39)	missense	possibly damaging	0.58
R7260:Zfp534	UTSW	4	147,759,461 (GRCm39)	missense	probably benign	0.03
R7455:Zfp534	UTSW	4	147,759,212 (GRCm39)	missense	probably damaging	1.00
R9128:Zfp534	UTSW	4	147,760,082 (GRCm39)	nonsense	probably null
R9199:Zfp534	UTSW	4	147,760,439 (GRCm39)	missense	probably benign	0.00
R9292:Zfp534	UTSW	4	147,759,095 (GRCm39)	missense	probably damaging	1.00
R9340:Zfp534	UTSW	4	147,758,698 (GRCm39)	missense	possibly damaging	0.48
R9475:Zfp534	UTSW	4	147,766,731 (GRCm39)	missense	probably benign	0.21
R9730:Zfp534	UTSW	4	147,759,378 (GRCm39)	missense	probably damaging	0.99
Z1177:Zfp534	UTSW	4	147,758,684 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- CTAGGCCAAAAGGAAAGGATTCATACC -3'
(R):5'- AAGCAGTCTGAGAATTCATCAGAG -3'

Sequencing Primer
(F):5'- CTGGGTAAAGCATTTGTCACATTCAC -3'
(R):5'- TTCATCAGAGAATTCATACAGGAGAG -3'

Posted On

2018-04-12