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

Zfp118, Zfp-53, D030067O06Rik, KRAZ1, zfas8

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

21709260-21730735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21720512 bp (GRCm39)

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
Ace2	T	A	X: 162,960,465 (GRCm39)		probably benign	Het
Acsm4	A	T	7: 119,293,075 (GRCm39)		probably null	Het
Apcdd1	T	C	18: 63,084,925 (GRCm39)	M374T	probably damaging	Het
Arid4b	A	G	13: 14,344,575 (GRCm39)	E551G	possibly damaging	Het
Bag4	A	T	8: 26,258,058 (GRCm39)	L423Q	probably damaging	Het
Celf1	C	T	2: 90,831,831 (GRCm39)	P96S	probably damaging	Het
Cracdl	G	A	1: 37,664,459 (GRCm39)	P480S	possibly damaging	Het
Cry2	G	A	2: 92,243,384 (GRCm39)	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,825,477 (GRCm39)	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,886 (GRCm39)	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,118,384 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,847,228 (GRCm39)	C1695S	possibly damaging	Het
Elmo3	T	C	8: 106,034,955 (GRCm39)	L415P	probably benign	Het
Entpd5	A	G	12: 84,427,154 (GRCm39)		probably benign	Het
Gpatch11	T	C	17: 79,149,660 (GRCm39)		probably null	Het
Gprin3	C	A	6: 59,330,147 (GRCm39)	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460 (GRCm39)	T358P	probably damaging	Het
Hcn2	T	C	10: 79,560,647 (GRCm39)		probably null	Het
Hivep3	A	G	4: 119,989,221 (GRCm39)	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,799,635 (GRCm39)	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,302,034 (GRCm39)	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,917,403 (GRCm39)		probably benign	Het
Ighg2b	A	G	12: 113,271,449 (GRCm39)	S35P	unknown	Het
Jmy	T	C	13: 93,635,750 (GRCm39)	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,552,669 (GRCm39)	I1215T	probably benign	Het
Krt84	T	C	15: 101,440,791 (GRCm39)	I134V	unknown	Het
Magi3	T	A	3: 103,992,663 (GRCm39)	M270L	probably benign	Het
Maneal	G	A	4: 124,754,209 (GRCm39)	T198I	probably benign	Het
Map7d3	A	G	X: 55,867,591 (GRCm39)		probably benign	Het
Myh7	T	A	14: 55,212,188 (GRCm39)	T1519S	probably benign	Het
Myo5a	T	C	9: 75,074,518 (GRCm39)		probably benign	Het
Naip5	T	C	13: 100,358,150 (GRCm39)	S1029G	probably benign	Het
Or14j1	G	T	17: 38,146,304 (GRCm39)	C138F	probably damaging	Het
Or4c11c	A	T	2: 88,662,372 (GRCm39)	I304F	probably benign	Het
Or4g16	T	A	2: 111,136,763 (GRCm39)	V71E	probably damaging	Het
Or5d14	T	C	2: 87,880,333 (GRCm39)	T212A	possibly damaging	Het
Or5k15	T	A	16: 58,710,184 (GRCm39)	Q133L	probably benign	Het
Pald1	A	T	10: 61,182,920 (GRCm39)		probably benign	Het
Pan2	T	A	10: 128,144,944 (GRCm39)	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 94,123,720 (GRCm39)	I817V	probably benign	Het
Piezo2	A	G	18: 63,153,705 (GRCm39)	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,442,167 (GRCm39)		probably null	Het
Prdm6	T	C	18: 53,597,749 (GRCm39)		probably benign	Het
Prr5l	A	T	2: 101,602,465 (GRCm39)		probably benign	Het
Rab3gap2	T	A	1: 185,003,665 (GRCm39)	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,160,543 (GRCm39)	H669R	probably damaging	Het
Rnf150	A	T	8: 83,730,234 (GRCm39)	I255F	probably damaging	Het
Rnf17	T	A	14: 56,745,325 (GRCm39)	D1360E	probably null	Het
Sag	T	C	1: 87,756,197 (GRCm39)		probably null	Het
Scn2a	C	T	2: 65,501,947 (GRCm39)	T90I	probably benign	Het
Scn9a	T	A	2: 66,314,955 (GRCm39)		probably benign	Het
Serpinb13	T	C	1: 106,926,640 (GRCm39)	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,544,134 (GRCm39)	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,867,669 (GRCm39)		probably benign	Het
Slitrk3	A	T	3: 72,957,312 (GRCm39)	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,836,671 (GRCm39)	M279T	probably benign	Het
Tmem161b	T	C	13: 84,420,373 (GRCm39)	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,426,874 (GRCm39)		probably benign	Het
Ubxn7	T	C	16: 32,188,201 (GRCm39)	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,614,963 (GRCm39)	L209P	probably damaging	Het
Wdr73	A	T	7: 80,543,508 (GRCm39)	W136R	probably damaging	Het
Wif1	C	T	10: 120,911,181 (GRCm39)	R107C	probably damaging	Het
Ythdf2	G	T	4: 131,932,885 (GRCm39)	L92M	probably benign	Het
Zpld2	A	G	4: 133,929,291 (GRCm39)	L338S	probably benign	Het

Other mutations in Zfp53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Zfp53	APN	17	21,728,600 (GRCm39)	missense	probably benign
IGL00862:Zfp53	APN	17	21,729,360 (GRCm39)	missense	probably benign	0.04
IGL01651:Zfp53	APN	17	21,728,348 (GRCm39)	missense	probably benign	0.19
R0063:Zfp53	UTSW	17	21,728,367 (GRCm39)	missense	probably benign	0.19
R0449:Zfp53	UTSW	17	21,729,095 (GRCm39)	missense	probably benign	0.17
R0514:Zfp53	UTSW	17	21,729,271 (GRCm39)	missense	probably damaging	1.00
R0755:Zfp53	UTSW	17	21,728,839 (GRCm39)	missense	probably damaging	1.00
R1661:Zfp53	UTSW	17	21,729,766 (GRCm39)	missense	probably damaging	1.00
R1665:Zfp53	UTSW	17	21,729,766 (GRCm39)	missense	probably damaging	1.00
R1693:Zfp53	UTSW	17	21,729,884 (GRCm39)	missense	possibly damaging	0.60
R2113:Zfp53	UTSW	17	21,728,713 (GRCm39)	missense	probably benign	0.19
R2869:Zfp53	UTSW	17	21,728,340 (GRCm39)	missense	probably benign	0.00
R2869:Zfp53	UTSW	17	21,728,340 (GRCm39)	missense	probably benign	0.00
R2870:Zfp53	UTSW	17	21,728,340 (GRCm39)	missense	probably benign	0.00
R2870:Zfp53	UTSW	17	21,728,340 (GRCm39)	missense	probably benign	0.00
R2871:Zfp53	UTSW	17	21,728,340 (GRCm39)	missense	probably benign	0.00
R2871:Zfp53	UTSW	17	21,728,340 (GRCm39)	missense	probably benign	0.00
R2873:Zfp53	UTSW	17	21,728,340 (GRCm39)	missense	probably benign	0.00
R2874:Zfp53	UTSW	17	21,728,340 (GRCm39)	missense	probably benign	0.00
R2908:Zfp53	UTSW	17	21,728,736 (GRCm39)	nonsense	probably null
R3873:Zfp53	UTSW	17	21,728,893 (GRCm39)	missense	probably damaging	0.98
R4499:Zfp53	UTSW	17	21,729,497 (GRCm39)	missense	probably damaging	0.96
R4806:Zfp53	UTSW	17	21,725,263 (GRCm39)	missense	possibly damaging	0.91
R5007:Zfp53	UTSW	17	21,729,772 (GRCm39)	missense	probably benign	0.15
R6261:Zfp53	UTSW	17	21,728,975 (GRCm39)	missense	possibly damaging	0.90
R6329:Zfp53	UTSW	17	21,728,372 (GRCm39)	missense	probably benign	0.01
R6452:Zfp53	UTSW	17	21,729,875 (GRCm39)	missense	probably damaging	1.00
R6899:Zfp53	UTSW	17	21,728,707 (GRCm39)	missense	possibly damaging	0.62
R7033:Zfp53	UTSW	17	21,720,508 (GRCm39)	missense	probably benign	0.05
R7250:Zfp53	UTSW	17	21,729,840 (GRCm39)	missense	probably damaging	1.00
R8068:Zfp53	UTSW	17	21,729,274 (GRCm39)	missense	probably benign	0.06
R8491:Zfp53	UTSW	17	21,729,621 (GRCm39)	missense	probably benign	0.02
R9627:Zfp53	UTSW	17	21,728,745 (GRCm39)	nonsense	probably null

Posted On

2015-04-16