Mutagenetix > Incidental Mutation

Incidental Mutation 'R1665:Zfp53'

187146

Institutional Source

Beutler Lab

Gene Symbol

Zfp53

Ensembl Gene

ENSMUSG00000057409

Gene Name

zinc finger protein 53

Synonyms

Zfp118, Zfp-53, D030067O06Rik, KRAZ1, zfas8

MMRRC Submission

039701-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21709260-21730735 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21729766 bp (GRCm39)

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]

AlphaFold

Q9Z117

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: 24,596,816 (GRCm39)	G423E	probably damaging	Het
Acox3	A	T	5: 35,760,371 (GRCm39)	H429L	probably damaging	Het
Afg1l	T	A	10: 42,302,573 (GRCm39)	K142N	probably damaging	Het
Aldh1a7	T	C	19: 20,704,825 (GRCm39)	I18V	probably benign	Het
Angel2	T	C	1: 190,669,664 (GRCm39)	Y115H	probably damaging	Het
Bsg	T	G	10: 79,547,352 (GRCm39)	N261K	probably damaging	Het
C2cd2l	A	T	9: 44,228,072 (GRCm39)	V83E	probably benign	Het
Caml	C	A	13: 55,779,784 (GRCm39)	L286I	probably benign	Het
Ccdc125	A	G	13: 100,830,081 (GRCm39)	I284V	probably benign	Het
Ces2a	G	A	8: 105,464,187 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,877,239 (GRCm39)		probably null	Het
Creg2	C	T	1: 39,662,372 (GRCm39)	W253*	probably null	Het
Csmd3	T	C	15: 47,560,185 (GRCm39)	T2293A	probably damaging	Het
Cttnbp2	A	T	6: 18,434,982 (GRCm39)	I292K	probably benign	Het
Dab2ip	T	A	2: 35,610,290 (GRCm39)	M770K	probably damaging	Het
Dct	T	A	14: 118,271,663 (GRCm39)	D389V	probably damaging	Het
Dnah17	A	T	11: 118,012,321 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,101,761 (GRCm39)	E1921G	probably benign	Het
Efcab3	A	G	11: 104,611,940 (GRCm39)	K594R	probably benign	Het
Ehmt1	A	G	2: 24,767,476 (GRCm39)	S272P	probably damaging	Het
Ero1b	T	C	13: 12,594,142 (GRCm39)		probably null	Het
Fnip2	A	G	3: 79,422,456 (GRCm39)	F108S	probably benign	Het
Foxb1	G	A	9: 69,667,104 (GRCm39)	A142V	probably damaging	Het
Fras1	A	T	5: 96,746,768 (GRCm39)	S613C	probably damaging	Het
Gm7276	C	A	18: 77,273,266 (GRCm39)		probably benign	Het
Gnb4	A	C	3: 32,644,188 (GRCm39)	L152*	probably null	Het
H1f7	G	T	15: 98,154,796 (GRCm39)	Q118K	probably benign	Het
Hdac7	A	G	15: 97,704,406 (GRCm39)	L119P	probably damaging	Het
Hsd17b4	G	A	18: 50,293,282 (GRCm39)	E274K	probably benign	Het
Htr4	T	C	18: 62,545,305 (GRCm39)	I30T	probably damaging	Het
Ikzf2	T	A	1: 69,577,973 (GRCm39)	Y512F	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl22	C	A	16: 17,594,352 (GRCm39)	D160E	probably benign	Het
Kpna6	T	A	4: 129,551,264 (GRCm39)	R80S	probably benign	Het
Lclat1	A	G	17: 73,494,999 (GRCm39)	E142G	probably damaging	Het
Lrig3	T	C	10: 125,833,570 (GRCm39)	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,568,437 (GRCm39)	N1428I	unknown	Het
Map3k19	T	A	1: 127,745,393 (GRCm39)	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,887,813 (GRCm39)	W1696R	probably damaging	Het
Mfn1	T	G	3: 32,588,471 (GRCm39)	V66G	probably benign	Het
Mllt10	A	T	2: 18,213,601 (GRCm39)	Q459L	possibly damaging	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Muc15	C	T	2: 110,564,243 (GRCm39)	Q260*	probably null	Het
Nfkb1	T	C	3: 135,300,718 (GRCm39)	H616R	probably damaging	Het
Nr2c1	T	A	10: 94,024,045 (GRCm39)	W417R	probably damaging	Het
Or10a2	T	C	7: 106,673,481 (GRCm39)	S149P	probably damaging	Het
Or13a26	G	T	7: 140,284,707 (GRCm39)	C181F	probably damaging	Het
Or4g16	T	C	2: 111,137,116 (GRCm39)	C189R	probably damaging	Het
Or4k39	T	C	2: 111,239,098 (GRCm39)	Y113H	probably damaging	Het
Or5b121	A	T	19: 13,507,202 (GRCm39)	H99L	probably damaging	Het
Or8c10	C	T	9: 38,278,862 (GRCm39)	H7Y	probably benign	Het
Pde10a	A	G	17: 9,117,702 (GRCm39)	D26G	probably damaging	Het
Pi15	G	T	1: 17,691,726 (GRCm39)	C176F	probably damaging	Het
Pou2f2	T	A	7: 24,792,149 (GRCm39)	T569S	possibly damaging	Het
Prf1	A	C	10: 61,138,666 (GRCm39)	E208A	probably benign	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Rc3h1	T	A	1: 160,786,993 (GRCm39)	V796E	probably benign	Het
Rgl1	T	C	1: 152,409,326 (GRCm39)	Y503C	probably damaging	Het
Ripk3	T	A	14: 56,023,808 (GRCm39)	H1L	probably benign	Het
Ryr1	C	T	7: 28,735,503 (GRCm39)	D4064N	probably damaging	Het
Sec63	T	A	10: 42,674,724 (GRCm39)		probably null	Het
Slco1a4	T	G	6: 141,785,303 (GRCm39)	M96L	possibly damaging	Het
Slit3	A	T	11: 35,125,733 (GRCm39)	R137S	possibly damaging	Het
Smad1	T	C	8: 80,098,658 (GRCm39)	E52G	probably damaging	Het
Srd5a2	A	T	17: 74,328,476 (GRCm39)	W201R	probably damaging	Het
Steap1	A	T	5: 5,786,498 (GRCm39)	L313Q	probably damaging	Het
Syt2	C	A	1: 134,675,358 (GRCm39)	A403D	probably damaging	Het
Tax1bp1	T	A	6: 52,713,897 (GRCm39)	S225R	probably benign	Het
Thap3	C	T	4: 152,070,161 (GRCm39)	V78M	probably damaging	Het
Thoc5	A	G	11: 4,869,792 (GRCm39)	K446R	probably benign	Het
Timmdc1	A	C	16: 38,331,079 (GRCm39)		probably null	Het
Tm6sf2	G	T	8: 70,531,580 (GRCm39)		probably benign	Het
Tmem126b	G	T	7: 90,125,179 (GRCm39)	A2E	probably damaging	Het
Trim9	T	A	12: 70,301,887 (GRCm39)	R584W	probably damaging	Het
Ttn	C	A	2: 76,661,200 (GRCm39)		probably benign	Het
Vmn1r25	A	T	6: 57,955,446 (GRCm39)	I281N	probably damaging	Het
Wdr59	A	G	8: 112,205,994 (GRCm39)	F553S	probably damaging	Het
Zc3h4	A	G	7: 16,163,505 (GRCm39)	M575V	unknown	Het
Zic5	A	G	14: 122,696,939 (GRCm39)	S559P	unknown	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
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
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

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