Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00862:Zfp53'

14978

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: 0.076) question?

Stock #

IGL00862

Quality Score

Status

Chromosome

Chromosomal Location

21709260-21730735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21729360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 464 (H464Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075960 (fasta)

Gene Model

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

AlphaFold

Q9Z117

Predicted Effect

probably benign
Transcript: ENSMUST00000076664
AA Change: H464Q

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000075960
Gene: ENSMUSG00000057409
AA Change: H464Q

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,844,374 (GRCm39)	T886A	possibly damaging	Het
Clca3a1	T	A	3: 144,730,332 (GRCm39)	N171I	possibly damaging	Het
Eef1b2	G	A	1: 63,217,665 (GRCm39)	G91R	probably damaging	Het
Ei24	C	T	9: 36,695,774 (GRCm39)	W239*	probably null	Het
Fut10	G	T	8: 31,725,733 (GRCm39)	V163F	probably damaging	Het
Msh4	T	A	3: 153,589,372 (GRCm39)	D431V	possibly damaging	Het
Nt5el	T	A	13: 105,255,192 (GRCm39)	F424L	probably damaging	Het
Ntrk3	A	T	7: 77,896,925 (GRCm39)	V704D	probably damaging	Het
Prune2	A	C	19: 17,096,713 (GRCm39)	H739P	probably benign	Het
Stra8	T	A	6: 34,914,998 (GRCm39)	N233K	probably benign	Het
Trpm6	A	G	19: 18,804,892 (GRCm39)	Y948C	probably damaging	Het
Xirp2	A	G	2: 67,347,247 (GRCm39)	I3163V	probably benign	Het
Zfat	C	T	15: 68,130,512 (GRCm39)		probably null	Het
Zfp760	C	A	17: 21,941,265 (GRCm39)	Q147K	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
IGL01651:Zfp53	APN	17	21,728,348 (GRCm39)	missense	probably benign	0.19
IGL02183:Zfp53	APN	17	21,720,512 (GRCm39)	missense	possibly damaging	0.51
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

2012-12-06