Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Zfp53'

284302

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp53

Ensembl Gene

ENSMUSG00000057409

Gene Name

zinc finger protein 53

Synonyms

Zfp-53, KRAZ1, Zfp118, zfas8, D030067O06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

21491256-21509764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21500250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 34 (I34N)

Ref Sequence

ENSEMBL: ENSMUSP00000075960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076664]

AlphaFold

Q9Z117

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076664
AA Change: I34N

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075960
Gene: ENSMUSG00000057409
AA Change: I34N

Domain	Start	End	E-Value	Type
KRAB	54	114	6.06e-23	SMART
ZnF_C2H2	226	248	1.18e-2	SMART
ZnF_C2H2	254	276	1.28e-3	SMART
ZnF_C2H2	282	304	2.65e-5	SMART
ZnF_C2H2	310	332	9.58e-3	SMART
ZnF_C2H2	338	360	2.86e-1	SMART
ZnF_C2H2	366	388	4.24e-4	SMART
ZnF_C2H2	394	416	4.87e-4	SMART
ZnF_C2H2	422	444	3.69e-4	SMART
ZnF_C2H2	450	472	6.23e-2	SMART
ZnF_C2H2	478	500	7.26e-3	SMART
ZnF_C2H2	506	528	1.72e-4	SMART
ZnF_C2H2	534	556	5.14e-3	SMART
ZnF_C2H2	562	584	9.08e-4	SMART
ZnF_C2H2	590	612	3.89e-3	SMART
ZnF_C2H2	618	640	4.87e-4	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous disruption of this locus results in pigmentation abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het

Other mutations in Zfp53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Zfp53	APN	17	21508338	missense	probably benign
IGL00862:Zfp53	APN	17	21509098	missense	probably benign	0.04
IGL01651:Zfp53	APN	17	21508086	missense	probably benign	0.19
R0063:Zfp53	UTSW	17	21508105	missense	probably benign	0.19
R0449:Zfp53	UTSW	17	21508833	missense	probably benign	0.17
R0514:Zfp53	UTSW	17	21509009	missense	probably damaging	1.00
R0755:Zfp53	UTSW	17	21508577	missense	probably damaging	1.00
R1661:Zfp53	UTSW	17	21509504	missense	probably damaging	1.00
R1665:Zfp53	UTSW	17	21509504	missense	probably damaging	1.00
R1693:Zfp53	UTSW	17	21509622	missense	possibly damaging	0.60
R2113:Zfp53	UTSW	17	21508451	missense	probably benign	0.19
R2869:Zfp53	UTSW	17	21508078	missense	probably benign	0.00
R2869:Zfp53	UTSW	17	21508078	missense	probably benign	0.00
R2870:Zfp53	UTSW	17	21508078	missense	probably benign	0.00
R2870:Zfp53	UTSW	17	21508078	missense	probably benign	0.00
R2871:Zfp53	UTSW	17	21508078	missense	probably benign	0.00
R2871:Zfp53	UTSW	17	21508078	missense	probably benign	0.00
R2873:Zfp53	UTSW	17	21508078	missense	probably benign	0.00
R2874:Zfp53	UTSW	17	21508078	missense	probably benign	0.00
R2908:Zfp53	UTSW	17	21508474	nonsense	probably null
R3873:Zfp53	UTSW	17	21508631	missense	probably damaging	0.98
R4499:Zfp53	UTSW	17	21509235	missense	probably damaging	0.96
R4806:Zfp53	UTSW	17	21505001	missense	possibly damaging	0.91
R5007:Zfp53	UTSW	17	21509510	missense	probably benign	0.15
R6261:Zfp53	UTSW	17	21508713	missense	possibly damaging	0.90
R6329:Zfp53	UTSW	17	21508110	missense	probably benign	0.01
R6452:Zfp53	UTSW	17	21509613	missense	probably damaging	1.00
R6899:Zfp53	UTSW	17	21508445	missense	possibly damaging	0.62
R7033:Zfp53	UTSW	17	21500246	missense	probably benign	0.05
R7250:Zfp53	UTSW	17	21509578	missense	probably damaging	1.00
R8068:Zfp53	UTSW	17	21509012	missense	probably benign	0.06
R8491:Zfp53	UTSW	17	21509359	missense	probably benign	0.02
R9627:Zfp53	UTSW	17	21508483	nonsense	probably null

Posted On

2015-04-16