Mutagenetix > Incidental Mutation

Incidental Mutation 'R4157:Zfp523'

315605

Institutional Source

Beutler Lab

Gene Symbol

Zfp523

Ensembl Gene

ENSMUSG00000024220

Gene Name

zinc finger protein 523

Synonyms

MMRRC Submission

041000-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R4157 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

28396136-28424860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28421257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 367 (A367V)

Ref Sequence

ENSEMBL: ENSMUSP00000073226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002318] [ENSMUST00000073534] [ENSMUST00000133868] [ENSMUST00000155030]

AlphaFold

Q8BMU0

Predicted Effect

probably benign
Transcript: ENSMUST00000002318
AA Change: A367V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000002318
Gene: ENSMUSG00000024220
AA Change: A367V

Domain	Start	End	E-Value	Type
internal_repeat_1	7	45	7.42e-6	PROSPERO
internal_repeat_1	60	99	7.42e-6	PROSPERO
low complexity region	116	129	N/A	INTRINSIC
ZnF_C2H2	165	189	7.15e-2	SMART
ZnF_C2H2	195	219	3.16e-3	SMART
ZnF_C2H2	225	249	8.47e-4	SMART
ZnF_C2H2	255	279	2.24e-3	SMART
ZnF_C2H2	285	309	3.44e-4	SMART
ZnF_C2H2	315	339	1.69e-3	SMART
ZnF_C2H2	345	368	5.06e-2	SMART
low complexity region	375	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073534
AA Change: A367V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000073226
Gene: ENSMUSG00000024220
AA Change: A367V

Domain	Start	End	E-Value	Type
internal_repeat_1	7	45	7.42e-6	PROSPERO
internal_repeat_1	60	99	7.42e-6	PROSPERO
low complexity region	116	129	N/A	INTRINSIC
ZnF_C2H2	165	189	7.15e-2	SMART
ZnF_C2H2	195	219	3.16e-3	SMART
ZnF_C2H2	225	249	8.47e-4	SMART
ZnF_C2H2	255	279	2.24e-3	SMART
ZnF_C2H2	285	309	3.44e-4	SMART
ZnF_C2H2	315	339	1.69e-3	SMART
ZnF_C2H2	345	368	5.06e-2	SMART
low complexity region	375	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129522

Predicted Effect

probably benign
Transcript: ENSMUST00000133868
AA Change: A256V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000123127
Gene: ENSMUSG00000024220
AA Change: A256V

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
ZnF_C2H2	84	108	7.15e-2	SMART
ZnF_C2H2	114	138	3.16e-3	SMART
ZnF_C2H2	144	168	8.47e-4	SMART
ZnF_C2H2	174	198	3.44e-4	SMART
ZnF_C2H2	204	228	1.69e-3	SMART
ZnF_C2H2	234	257	5.06e-2	SMART
low complexity region	264	285	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151595

Predicted Effect

probably benign
Transcript: ENSMUST00000155030

SMART Domains

Protein: ENSMUSP00000117730
Gene: ENSMUSG00000024220

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161275

Meta Mutation Damage Score

0.1169

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,070,414 (GRCm39)	R585L	probably damaging	Het
Adamtsl5	C	T	10: 80,181,156 (GRCm39)	R75Q	probably null	Het
Ankrd26	T	A	6: 118,484,782 (GRCm39)	Q1485L	probably damaging	Het
Apbb2	G	A	5: 66,459,947 (GRCm39)	R717*	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,365,591 (GRCm39)	E735G	probably damaging	Het
Bcl11b	A	T	12: 107,883,684 (GRCm39)		probably null	Het
C4b	A	G	17: 34,961,829 (GRCm39)	I139T	probably damaging	Het
Ccpg1	C	A	9: 72,919,449 (GRCm39)	Q355K	probably benign	Het
Cdk8	A	T	5: 146,236,259 (GRCm39)		probably benign	Het
Ctif	T	C	18: 75,568,341 (GRCm39)	H599R	probably benign	Het
Degs1	A	G	1: 182,110,192 (GRCm39)	I26T	possibly damaging	Het
Dnajc4	T	C	19: 6,967,208 (GRCm39)	N72S	probably damaging	Het
Ecd	A	G	14: 20,374,632 (GRCm39)	S503P	probably damaging	Het
Gm3486	G	A	14: 41,208,343 (GRCm39)	L123F	probably benign	Het
Inpp5f	C	T	7: 128,281,423 (GRCm39)		probably benign	Het
Irx4	A	T	13: 73,413,662 (GRCm39)	Q44L	probably benign	Het
Krt9	T	A	11: 100,079,475 (GRCm39)	Y639F	unknown	Het
Lgals9	C	A	11: 78,863,933 (GRCm39)	V71L	possibly damaging	Het
Mdga1	T	C	17: 30,052,317 (GRCm39)	N143S	probably benign	Het
Ndufs4	A	T	13: 114,444,390 (GRCm39)	S129R	probably benign	Het
Nup50l	C	G	6: 96,142,264 (GRCm39)	W260S	possibly damaging	Het
Oog2	A	G	4: 143,920,523 (GRCm39)		probably benign	Het
Orm2	T	A	4: 63,282,222 (GRCm39)	F133L	probably null	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pidd1	A	G	7: 141,021,279 (GRCm39)	V333A	possibly damaging	Het
Ppp4r3a	A	G	12: 101,021,878 (GRCm39)	F341L	probably damaging	Het
Rab11fip1	A	T	8: 27,642,175 (GRCm39)	S875T	probably damaging	Het
Rpap1	C	T	2: 119,604,660 (GRCm39)	R416H	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Snx22	T	C	9: 65,975,493 (GRCm39)	Y92C	probably damaging	Het
Srgn	A	G	10: 62,333,613 (GRCm39)	F55L	possibly damaging	Het
Swt1	A	T	1: 151,278,795 (GRCm39)	V454E	probably damaging	Het
Tmem54	G	A	4: 129,004,504 (GRCm39)	R151Q	probably damaging	Het
Tns1	T	A	1: 73,953,790 (GRCm39)	N1848Y	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top2b	A	G	14: 16,384,491 (GRCm38)	N80S	probably benign	Het
Trim7	T	C	11: 48,738,920 (GRCm39)	V313A	probably benign	Het
Uaca	A	G	9: 60,779,035 (GRCm39)	S1141G	probably benign	Het
Ubr3	T	C	2: 69,790,013 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,597,729 (GRCm39)	V121A	probably benign	Het
Wdr20	G	A	12: 110,704,608 (GRCm39)	R49H	possibly damaging	Het
Ylpm1	T	C	12: 85,104,177 (GRCm39)		probably benign	Het
Zfp398	A	T	6: 47,812,843 (GRCm39)	T5S	probably benign	Het
Zfp410	G	A	12: 84,374,206 (GRCm39)	R181H	probably damaging	Het
Zfp748	G	A	13: 67,690,225 (GRCm39)	S345L	possibly damaging	Het

Other mutations in Zfp523

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Zfp523	APN	17	28,420,023 (GRCm39)	missense	possibly damaging	0.95
IGL01405:Zfp523	APN	17	28,423,480 (GRCm39)	missense	probably damaging	0.99
IGL02430:Zfp523	APN	17	28,414,113 (GRCm39)	unclassified	probably benign
R0496:Zfp523	UTSW	17	28,419,419 (GRCm39)	missense	possibly damaging	0.83
R1533:Zfp523	UTSW	17	28,423,473 (GRCm39)	missense	probably benign	0.18
R1837:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably damaging	0.99
R1838:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably damaging	0.99
R1839:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably damaging	0.99
R2023:Zfp523	UTSW	17	28,419,978 (GRCm39)	unclassified	probably benign
R2104:Zfp523	UTSW	17	28,414,190 (GRCm39)	missense	probably benign	0.31
R2403:Zfp523	UTSW	17	28,414,183 (GRCm39)	missense	probably damaging	1.00
R2864:Zfp523	UTSW	17	28,421,514 (GRCm39)	missense	probably benign	0.00
R4214:Zfp523	UTSW	17	28,420,003 (GRCm39)	missense	probably benign	0.04
R4771:Zfp523	UTSW	17	28,420,312 (GRCm39)	splice site	probably null
R5869:Zfp523	UTSW	17	28,413,967 (GRCm39)	missense	probably benign	0.37
R5950:Zfp523	UTSW	17	28,421,532 (GRCm39)	missense	probably benign	0.06
R6443:Zfp523	UTSW	17	28,420,381 (GRCm39)	missense	probably damaging	0.99
R6679:Zfp523	UTSW	17	28,421,194 (GRCm39)	missense	probably damaging	1.00
R6694:Zfp523	UTSW	17	28,419,446 (GRCm39)	missense	probably damaging	1.00
R7669:Zfp523	UTSW	17	28,420,015 (GRCm39)	missense	probably damaging	1.00
R8103:Zfp523	UTSW	17	28,420,267 (GRCm39)	missense	probably damaging	1.00
R8315:Zfp523	UTSW	17	28,421,562 (GRCm39)	missense	possibly damaging	0.90
R9001:Zfp523	UTSW	17	28,408,915 (GRCm39)	missense	possibly damaging	0.64
R9406:Zfp523	UTSW	17	28,416,840 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGAGAAGCCATACGTTTGC -3'
(R):5'- ACCATGGCTACTTGGGTTGG -3'

Sequencing Primer
(F):5'- GTTTGCACGGTGCCAGG -3'
(R):5'- GGGATGGCACTGCTCTCTTC -3'

Posted On

2015-05-14