Mutagenetix > Incidental Mutation

Incidental Mutation 'R6764:Zfp534'

543625

Institutional Source

Beutler Lab

Gene Symbol

Zfp534

Ensembl Gene

ENSMUSG00000062518

Gene Name

zinc finger protein 534

Synonyms

Gm13159

MMRRC Submission

044880-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.557) question?

Stock #

R6764 (G1)

Quality Score

57.0073

Status

Validated

Chromosome

Chromosomal Location

147757959-147787010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 147759175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 498 (G498D)

Ref Sequence

ENSEMBL: ENSMUSP00000113561 (fasta)

Gene Model

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

AlphaFold

A2A7A1

Predicted Effect

probably benign
Transcript: ENSMUST00000117638
AA Change: G498D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113561
Gene: ENSMUSG00000062518
AA Change: G498D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	G	T	11: 53,290,657 (GRCm39)	R539L	probably damaging	Het
Aox1	T	A	1: 58,389,441 (GRCm39)	Y1147N	probably damaging	Het
Arhgef25	A	G	10: 127,019,970 (GRCm39)	F423L	probably damaging	Het
Atp1a2	A	T	1: 172,112,181 (GRCm39)	D571E	probably benign	Het
Bank1	A	G	3: 135,948,701 (GRCm39)	S159P	probably damaging	Het
Bcan	C	A	3: 87,895,685 (GRCm39)	R817L	probably damaging	Het
Cacna1g	A	G	11: 94,304,014 (GRCm39)	S1990P	possibly damaging	Het
Ccna1	G	A	3: 54,953,499 (GRCm39)	T368M	probably damaging	Het
Chia1	T	C	3: 106,038,056 (GRCm39)		probably null	Het
Ctbp1	T	C	5: 33,416,589 (GRCm39)	H136R	possibly damaging	Het
Dner	T	G	1: 84,472,502 (GRCm39)	D366A	probably damaging	Het
Eif3d	A	T	15: 77,845,886 (GRCm39)	D378E	probably damaging	Het
Evpl	A	G	11: 116,113,770 (GRCm39)	S1307P	probably damaging	Het
Fgd5	T	A	6: 91,966,402 (GRCm39)	N720K	probably damaging	Het
Fmn1	A	G	2: 113,355,560 (GRCm39)	E667G	unknown	Het
Gm4846	A	G	1: 166,319,121 (GRCm39)	C206R	probably benign	Het
Grpel1	G	A	5: 36,622,569 (GRCm39)	R11H	probably benign	Het
Gsn	A	G	2: 35,174,056 (GRCm39)	Y55C	probably damaging	Het
Hephl1	G	A	9: 15,000,217 (GRCm39)	T345I	possibly damaging	Het
Ints2	T	A	11: 86,103,605 (GRCm39)	K1150N	probably benign	Het
Itga4	C	A	2: 79,155,958 (GRCm39)	H975N	probably benign	Het
Musk	T	C	4: 58,354,027 (GRCm39)	V360A	probably damaging	Het
Naalad2	A	T	9: 18,314,185 (GRCm39)		probably benign	Het
Ninj2	G	T	6: 120,175,011 (GRCm39)	A51S	probably benign	Het
Nscme3l	A	G	19: 5,552,900 (GRCm39)	S294P	probably damaging	Het
Pcdhac1	T	C	18: 37,223,732 (GRCm39)	Y182H	probably damaging	Het
Pitpnm3	A	G	11: 71,942,059 (GRCm39)	F916S	probably damaging	Het
Sfrp5	T	A	19: 42,188,238 (GRCm39)	M194L	probably benign	Het
Sigirr	C	T	7: 140,673,155 (GRCm39)	V99I	probably benign	Het
Smco2	A	G	6: 146,772,827 (GRCm39)	D343G	probably damaging	Het
Snap91	A	G	9: 86,674,234 (GRCm39)	I584T	probably benign	Het
Syne1	G	A	10: 5,179,011 (GRCm39)	Q4488*	probably null	Het
Tbc1d24	A	C	17: 24,404,754 (GRCm39)	F130C	possibly damaging	Het
Trpm7	A	G	2: 126,686,340 (GRCm39)	V296A	possibly damaging	Het
Ttll11	T	C	2: 35,780,460 (GRCm39)		probably null	Het
Vmn2r115	A	G	17: 23,565,046 (GRCm39)	D311G	probably damaging	Het
Vmn2r63	A	G	7: 42,552,695 (GRCm39)	S854P	probably damaging	Het
Zfp330	C	T	8: 83,493,934 (GRCm39)	C109Y	probably damaging	Het
Zfp62	A	G	11: 49,105,996 (GRCm39)	D29G	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
R6157:Zfp534	UTSW	4	147,758,947 (GRCm39)	missense	probably benign
R6374:Zfp534	UTSW	4	147,759,299 (GRCm39)	missense	probably benign	0.44
R6610:Zfp534	UTSW	4	147,758,947 (GRCm39)	missense	probably benign
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'- TTGTAAGGTTTCTCTCCTGCATG -3'
(R):5'- GAAACCTTACAAATGCAGTGAATGT -3'

Sequencing Primer
(F):5'- GGGTAAAGCATTTGTCACATTCAC -3'
(R):5'- CAGTGAATGTGACAAATGCTTTACCC -3'

Posted On

2019-04-04