Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02430:Zfp523'

293117

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp523

Ensembl Gene

ENSMUSG00000024220

Gene Name

zinc finger protein 523

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

IGL02430

Quality Score

Status

Chromosome

Chromosomal Location

28396136-28424860 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 28414113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002318] [ENSMUST00000073534] [ENSMUST00000133868]

AlphaFold

Q8BMU0

Predicted Effect

probably benign
Transcript: ENSMUST00000002318

SMART Domains

Protein: ENSMUSP00000002318
Gene: ENSMUSG00000024220

Domain	Start	End	E-Value	Type
internal_repeat_1	7	45	7.42e-6	PROSPERO
internal_repeat_1	60	99	7.42e-6	PROSPERO
low complexity region	116	129	N/A	INTRINSIC
ZnF_C2H2	165	189	7.15e-2	SMART
ZnF_C2H2	195	219	3.16e-3	SMART
ZnF_C2H2	225	249	8.47e-4	SMART
ZnF_C2H2	255	279	2.24e-3	SMART
ZnF_C2H2	285	309	3.44e-4	SMART
ZnF_C2H2	315	339	1.69e-3	SMART
ZnF_C2H2	345	368	5.06e-2	SMART
low complexity region	375	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073534

SMART Domains

Protein: ENSMUSP00000073226
Gene: ENSMUSG00000024220

Domain	Start	End	E-Value	Type
internal_repeat_1	7	45	7.42e-6	PROSPERO
internal_repeat_1	60	99	7.42e-6	PROSPERO
low complexity region	116	129	N/A	INTRINSIC
ZnF_C2H2	165	189	7.15e-2	SMART
ZnF_C2H2	195	219	3.16e-3	SMART
ZnF_C2H2	225	249	8.47e-4	SMART
ZnF_C2H2	255	279	2.24e-3	SMART
ZnF_C2H2	285	309	3.44e-4	SMART
ZnF_C2H2	315	339	1.69e-3	SMART
ZnF_C2H2	345	368	5.06e-2	SMART
low complexity region	375	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133868

SMART Domains

Protein: ENSMUSP00000123127
Gene: ENSMUSG00000024220

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
ZnF_C2H2	84	108	7.15e-2	SMART
ZnF_C2H2	114	138	3.16e-3	SMART
ZnF_C2H2	144	168	8.47e-4	SMART
ZnF_C2H2	174	198	3.44e-4	SMART
ZnF_C2H2	204	228	1.69e-3	SMART
ZnF_C2H2	234	257	5.06e-2	SMART
low complexity region	264	285	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161275

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap33	T	C	7: 30,222,185 (GRCm39)	E1249G	probably benign	Het
C8a	G	A	4: 104,674,719 (GRCm39)	T540I	probably damaging	Het
Clcnkb	C	A	4: 141,136,701 (GRCm39)	W388L	possibly damaging	Het
Cnbp	A	T	6: 87,822,160 (GRCm39)	Y114*	probably null	Het
Col13a1	A	G	10: 61,710,530 (GRCm39)	V337A	probably benign	Het
Cyp2e1	A	G	7: 140,350,139 (GRCm39)	K275E	probably damaging	Het
Dchs1	A	G	7: 105,421,178 (GRCm39)	V414A	probably benign	Het
Ebf1	G	A	11: 44,815,403 (GRCm39)		probably null	Het
Gabbr1	C	T	17: 37,367,200 (GRCm39)	R198*	probably null	Het
Gpaa1	T	C	15: 76,216,388 (GRCm39)	S36P	possibly damaging	Het
Hipk1	A	G	3: 103,667,971 (GRCm39)	V532A	probably damaging	Het
Klhl18	A	T	9: 110,266,469 (GRCm39)	C217S	probably benign	Het
Lmntd1	T	A	6: 145,359,140 (GRCm39)	T191S	probably benign	Het
Ltbp2	T	A	12: 84,846,175 (GRCm39)	Y925F	probably damaging	Het
Lvrn	A	G	18: 47,027,797 (GRCm39)	I871V	probably benign	Het
Mrgprb1	A	G	7: 48,097,409 (GRCm39)	S168P	possibly damaging	Het
Or11g24	A	G	14: 50,662,608 (GRCm39)	I211V	probably benign	Het
Or5p70	A	T	7: 107,994,929 (GRCm39)	I201F	probably benign	Het
Pcnx1	T	A	12: 81,966,096 (GRCm39)	N754K	possibly damaging	Het
Plaa	A	T	4: 94,470,810 (GRCm39)	M442K	probably benign	Het
Pole3	T	C	4: 62,443,056 (GRCm39)	N28S	possibly damaging	Het
Pramel18	A	G	4: 101,767,477 (GRCm39)	Y242C	probably benign	Het
Prlr	A	G	15: 10,325,477 (GRCm39)	K4E	probably damaging	Het
Rp1l1	A	T	14: 64,266,735 (GRCm39)	T774S	probably benign	Het
Selp	C	A	1: 163,953,952 (GRCm39)	P84Q	probably damaging	Het
Sh3bp4	T	A	1: 89,080,885 (GRCm39)	W901R	probably null	Het
Slc6a20b	A	G	9: 123,426,305 (GRCm39)	Y527H	probably damaging	Het
Slit3	T	A	11: 35,068,601 (GRCm39)		probably null	Het
Spidr	C	T	16: 15,932,774 (GRCm39)	D169N	probably damaging	Het
Sstr2	T	C	11: 113,515,630 (GRCm39)	L183P	probably damaging	Het
Tmem62	C	T	2: 120,817,143 (GRCm39)	T233I	probably damaging	Het
Uba7	A	G	9: 107,856,667 (GRCm39)		probably benign	Het
Ubc	A	T	5: 125,464,634 (GRCm39)	I231N	probably damaging	Het
Ubl3	A	T	5: 148,488,766 (GRCm39)	D8E	probably benign	Het
Unc5a	A	G	13: 55,150,295 (GRCm39)	I465M	probably damaging	Het
Vmn2r106	A	G	17: 20,499,158 (GRCm39)	I251T	probably benign	Het
Vwa8	T	C	14: 79,172,085 (GRCm39)		probably null	Het
Washc5	A	G	15: 59,238,140 (GRCm39)	Y195H	probably damaging	Het
Wdr27	A	C	17: 15,122,062 (GRCm39)	S615A	probably damaging	Het
Zfp160	T	A	17: 21,245,792 (GRCm39)	L114H	possibly damaging	Het

Other mutations in Zfp523

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Zfp523	APN	17	28,420,023 (GRCm39)	missense	possibly damaging	0.95
IGL01405:Zfp523	APN	17	28,423,480 (GRCm39)	missense	probably damaging	0.99
R0496:Zfp523	UTSW	17	28,419,419 (GRCm39)	missense	possibly damaging	0.83
R1533:Zfp523	UTSW	17	28,423,473 (GRCm39)	missense	probably benign	0.18
R1837:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably damaging	0.99
R1838:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably damaging	0.99
R1839:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably damaging	0.99
R2023:Zfp523	UTSW	17	28,419,978 (GRCm39)	unclassified	probably benign
R2104:Zfp523	UTSW	17	28,414,190 (GRCm39)	missense	probably benign	0.31
R2403:Zfp523	UTSW	17	28,414,183 (GRCm39)	missense	probably damaging	1.00
R2864:Zfp523	UTSW	17	28,421,514 (GRCm39)	missense	probably benign	0.00
R4157:Zfp523	UTSW	17	28,421,257 (GRCm39)	missense	probably benign	0.06
R4214:Zfp523	UTSW	17	28,420,003 (GRCm39)	missense	probably benign	0.04
R4771:Zfp523	UTSW	17	28,420,312 (GRCm39)	splice site	probably null
R5869:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably benign	0.37
R5950:Zfp523	UTSW	17	28,421,532 (GRCm39)	missense	probably benign	0.06
R6443:Zfp523	UTSW	17	28,420,381 (GRCm39)	missense	probably damaging	0.99
R6679:Zfp523	UTSW	17	28,421,194 (GRCm39)	missense	probably damaging	1.00
R6694:Zfp523	UTSW	17	28,419,446 (GRCm39)	missense	probably damaging	1.00
R7669:Zfp523	UTSW	17	28,420,015 (GRCm39)	missense	probably damaging	1.00
R8103:Zfp523	UTSW	17	28,420,267 (GRCm39)	missense	probably damaging	1.00
R8315:Zfp523	UTSW	17	28,421,562 (GRCm39)	missense	possibly damaging	0.90
R9001:Zfp523	UTSW	17	28,408,915 (GRCm39)	missense	possibly damaging	0.64
R9406:Zfp523	UTSW	17	28,416,840 (GRCm39)	missense	probably benign

Posted On

2015-04-16