Mutagenetix > Incidental Mutations

Incidental Mutation 'R1665:Zfp53'

187146

Institutional Source

Beutler Lab

Gene Symbol

Zfp53

Ensembl Gene

ENSMUSG00000057409

Gene Name

zinc finger protein 53

Synonyms

Zfp-53, KRAZ1, Zfp118, zfas8, D030067O06Rik

MMRRC Submission

039701-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21491256-21509764 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21509504 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 600 (T600A)

Ref Sequence

ENSEMBL: ENSMUSP00000075960 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000076664
AA Change: T600A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075960
Gene: ENSMUSG00000057409
AA Change: T600A

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (87/87)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,377,842	G423E	probably damaging	Het
Acox3	A	T	5: 35,603,027	H429L	probably damaging	Het
Afg1l	T	A	10: 42,426,577	K142N	probably damaging	Het
Aldh1a7	T	C	19: 20,727,461	I18V	probably benign	Het
Angel2	T	C	1: 190,937,467	Y115H	probably damaging	Het
Bsg	T	G	10: 79,711,518	N261K	probably damaging	Het
C2cd2l	A	T	9: 44,316,775	V83E	probably benign	Het
Caml	C	A	13: 55,631,971	L286I	probably benign	Het
Ccdc125	A	G	13: 100,693,573	I284V	probably benign	Het
Ces2a	G	A	8: 104,737,555		probably benign	Het
Cfap61	T	C	2: 146,035,319		probably null	Het
Creg2	C	T	1: 39,623,204	W253*	probably null	Het
Csmd3	T	C	15: 47,696,789	T2293A	probably damaging	Het
Cttnbp2	A	T	6: 18,434,983	I292K	probably benign	Het
Dab2ip	T	A	2: 35,720,278	M770K	probably damaging	Het
Dct	T	A	14: 118,034,251	D389V	probably damaging	Het
Dnah17	A	T	11: 118,121,495		probably benign	Het
Dnah6	T	C	6: 73,124,778	E1921G	probably benign	Het
Ehmt1	A	G	2: 24,877,464	S272P	probably damaging	Het
Ero1lb	T	C	13: 12,579,261		probably null	Het
Fnip2	A	G	3: 79,515,149	F108S	probably benign	Het
Foxb1	G	A	9: 69,759,822	A142V	probably damaging	Het
Fras1	A	T	5: 96,598,909	S613C	probably damaging	Het
Gm11639	A	G	11: 104,721,114	K594R	probably benign	Het
Gm7276	C	A	18: 77,185,570		probably benign	Het
Gnb4	A	C	3: 32,590,039	L152*	probably null	Het
H1fnt	G	T	15: 98,256,915	Q118K	probably benign	Het
Hdac7	A	G	15: 97,806,525	L119P	probably damaging	Het
Hsd17b4	G	A	18: 50,160,215	E274K	probably benign	Het
Htr4	T	C	18: 62,412,234	I30T	probably damaging	Het
Ikzf2	T	A	1: 69,538,814	Y512F	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Klhl22	C	A	16: 17,776,488	D160E	probably benign	Het
Kpna6	T	A	4: 129,657,471	R80S	probably benign	Het
Lclat1	A	G	17: 73,188,004	E142G	probably damaging	Het
Lrig3	T	C	10: 125,997,701	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Map1b	T	A	13: 99,431,929	N1428I	unknown	Het
Map3k19	T	A	1: 127,817,656	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,749,748	W1696R	probably damaging	Het
Mfn1	T	G	3: 32,534,322	V66G	probably benign	Het
Mllt10	A	T	2: 18,208,790	Q459L	possibly damaging	Het
Morc2a	G	A	11: 3,675,885	V162M	probably benign	Het
Muc15	C	T	2: 110,733,898	Q260*	probably null	Het
Nfkb1	T	C	3: 135,594,957	H616R	probably damaging	Het
Nr2c1	T	A	10: 94,188,183	W417R	probably damaging	Het
Olfr1279	T	C	2: 111,306,771	C189R	probably damaging	Het
Olfr1285	T	C	2: 111,408,753	Y113H	probably damaging	Het
Olfr1480	A	T	19: 13,529,838	H99L	probably damaging	Het
Olfr250	C	T	9: 38,367,566	H7Y	probably benign	Het
Olfr541	G	T	7: 140,704,794	C181F	probably damaging	Het
Olfr714	T	C	7: 107,074,274	S149P	probably damaging	Het
Pde10a	A	G	17: 8,898,870	D26G	probably damaging	Het
Pi15	G	T	1: 17,621,502	C176F	probably damaging	Het
Pou2f2	T	A	7: 25,092,724	T569S	possibly damaging	Het
Prf1	A	C	10: 61,302,887	E208A	probably benign	Het
Prkd1	G	A	12: 50,394,926	H277Y	probably damaging	Het
Rc3h1	T	A	1: 160,959,423	V796E	probably benign	Het
Rgl1	T	C	1: 152,533,575	Y503C	probably damaging	Het
Ripk3	T	A	14: 55,786,351	H1L	probably benign	Het
Ryr1	C	T	7: 29,036,078	D4064N	probably damaging	Het
Sec63	T	A	10: 42,798,728		probably null	Het
Slco1a4	T	G	6: 141,839,577	M96L	possibly damaging	Het
Slit3	A	T	11: 35,234,906	R137S	possibly damaging	Het
Smad1	T	C	8: 79,372,029	E52G	probably damaging	Het
Srd5a2	A	T	17: 74,021,481	W201R	probably damaging	Het
Steap1	A	T	5: 5,736,498	L313Q	probably damaging	Het
Syt2	C	A	1: 134,747,620	A403D	probably damaging	Het
Tax1bp1	T	A	6: 52,736,912	S225R	probably benign	Het
Thap3	C	T	4: 151,985,704	V78M	probably damaging	Het
Thoc5	A	G	11: 4,919,792	K446R	probably benign	Het
Timmdc1	A	C	16: 38,510,717		probably null	Het
Tm6sf2	G	T	8: 70,078,930		probably benign	Het
Tmem126b	G	T	7: 90,475,971	A2E	probably damaging	Het
Trim9	T	A	12: 70,255,113	R584W	probably damaging	Het
Ttn	C	A	2: 76,830,856		probably benign	Het
Vmn1r25	A	T	6: 57,978,461	I281N	probably damaging	Het
Wdr59	A	G	8: 111,479,362	F553S	probably damaging	Het
Zc3h4	A	G	7: 16,429,580	M575V	unknown	Het
Zic5	A	G	14: 122,459,527	S559P	unknown	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
IGL02183:Zfp53	APN	17	21500250	missense	possibly damaging	0.51
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTTCACACcttagaagccattacaga -3'
(R):5'- AGGGAACACCAAATAAATGCTATGTCACAA -3'

Sequencing Primer
(F):5'- gagcccatcagaaaatccatac -3'
(R):5'- AATAAATGCTATGTCACAATAGTTGC -3'

Posted On

2014-05-09