Mutagenetix > Incidental Mutation

Incidental Mutation 'R5299:Zfp503'

405585

Institutional Source

Beutler Lab

Gene Symbol

Zfp503

Ensembl Gene

ENSMUSG00000039081

Gene Name

zinc finger protein 503

Synonyms

ZNF503, Nolz-1, B830002A16Rik, Zpo2, Nolz1

MMRRC Submission

042882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5299 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22034030-22039669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22035507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 470 (S470P)

Ref Sequence

ENSEMBL: ENSMUSP00000046641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043409]

AlphaFold

Q7TMA2

Predicted Effect

probably benign
Transcript: ENSMUST00000043409
AA Change: S470P

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046641
Gene: ENSMUSG00000039081
AA Change: S470P

Domain	Start	End	E-Value	Type
low complexity region	16	32	N/A	INTRINSIC
low complexity region	46	57	N/A	INTRINSIC
low complexity region	131	165	N/A	INTRINSIC
low complexity region	231	244	N/A	INTRINSIC
low complexity region	249	280	N/A	INTRINSIC
low complexity region	314	336	N/A	INTRINSIC
Pfam:nlz1	361	421	7.7e-32	PFAM
low complexity region	442	467	N/A	INTRINSIC
low complexity region	487	503	N/A	INTRINSIC
ZnF_C2H2	520	548	9.71e0	SMART
low complexity region	563	576	N/A	INTRINSIC
low complexity region	617	631	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,381,861 (GRCm39)	I3838V	probably damaging	Het
Arid1a	A	T	4: 133,414,537 (GRCm39)	D1231E	unknown	Het
Atxn1	A	T	13: 45,710,730 (GRCm39)	I734K	probably benign	Het
Axin1	A	G	17: 26,392,708 (GRCm39)	S330G	probably damaging	Het
Bend3	G	A	10: 43,369,686 (GRCm39)		probably null	Het
Chodl	C	T	16: 78,738,296 (GRCm39)	T88I	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dst	A	G	1: 34,174,173 (GRCm39)	I179M	probably damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Exoc2	A	T	13: 31,055,901 (GRCm39)		probably null	Het
Grk2	T	C	19: 4,342,799 (GRCm39)	E45G	probably damaging	Het
Ift81	T	C	5: 122,745,119 (GRCm39)	Y144C	probably damaging	Het
Ighv1-15	T	C	12: 114,620,998 (GRCm39)	D109G	probably damaging	Het
Igtp	T	C	11: 58,097,959 (GRCm39)	W377R	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Map2k6	A	G	11: 110,383,789 (GRCm39)	D145G	probably benign	Het
Mcph1	T	C	8: 18,702,596 (GRCm39)		probably benign	Het
Mdfi	A	G	17: 48,131,759 (GRCm39)	V95A	possibly damaging	Het
Mical3	A	G	6: 120,936,473 (GRCm39)	L1351P	possibly damaging	Het
Nbas	C	T	12: 13,491,926 (GRCm39)	Q1506*	probably null	Het
Nelfb	A	G	2: 25,100,757 (GRCm39)	V128A	probably benign	Het
Otog	A	G	7: 45,938,275 (GRCm39)	T1995A	probably benign	Het
Ppp1r7	A	T	1: 93,280,348 (GRCm39)	I139L	probably benign	Het
Ppp2r1b	A	G	9: 50,768,340 (GRCm39)	D19G	probably benign	Het
Proca1	T	C	11: 78,096,078 (GRCm39)	S150P	probably damaging	Het
Rhof	A	G	5: 123,258,611 (GRCm39)	V100A	probably damaging	Het
Rsbn1	G	C	3: 103,821,806 (GRCm39)	G14R	probably benign	Het
Serinc1	A	G	10: 57,399,147 (GRCm39)	I252T	probably damaging	Het
Skint4	A	T	4: 111,993,203 (GRCm39)	I309F	possibly damaging	Het
Slc12a3	A	G	8: 95,078,417 (GRCm39)	Y815C	probably damaging	Het
Slc25a24	A	G	3: 109,073,668 (GRCm39)	S424G	probably benign	Het
Spint2	G	A	7: 28,963,151 (GRCm39)	A49V	probably damaging	Het
Traf3ip3	T	A	1: 192,860,483 (GRCm39)	K480*	probably null	Het
Ube2g2	T	C	10: 77,480,379 (GRCm39)	S162P	possibly damaging	Het
Ubxn8	C	A	8: 34,131,947 (GRCm39)	V7L	possibly damaging	Het
Vmn1r200	T	A	13: 22,579,945 (GRCm39)	C249*	probably null	Het
Vmn1r38	T	A	6: 66,753,682 (GRCm39)	T145S	probably benign	Het
Wapl	G	A	14: 34,455,765 (GRCm39)		probably null	Het
Wfdc6a	T	C	2: 164,422,311 (GRCm39)	N96S	possibly damaging	Het

Other mutations in Zfp503

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01950:Zfp503	APN	14	22,036,488 (GRCm39)	missense	probably benign	0.02
IGL02086:Zfp503	APN	14	22,037,354 (GRCm39)	missense	possibly damaging	0.91
IGL02824:Zfp503	APN	14	22,035,162 (GRCm39)	missense	possibly damaging	0.95
R0317:Zfp503	UTSW	14	22,036,527 (GRCm39)	missense	probably benign	0.02
R1640:Zfp503	UTSW	14	22,034,969 (GRCm39)	missense	probably damaging	0.99
R1786:Zfp503	UTSW	14	22,035,588 (GRCm39)	missense	possibly damaging	0.86
R2414:Zfp503	UTSW	14	22,036,032 (GRCm39)	nonsense	probably null
R5181:Zfp503	UTSW	14	22,035,705 (GRCm39)	missense	probably benign	0.04
R5994:Zfp503	UTSW	14	22,035,630 (GRCm39)	missense	possibly damaging	0.91
R6209:Zfp503	UTSW	14	22,035,778 (GRCm39)	missense	probably damaging	0.98
R6267:Zfp503	UTSW	14	22,035,868 (GRCm39)	nonsense	probably null
R6296:Zfp503	UTSW	14	22,035,868 (GRCm39)	nonsense	probably null
R6714:Zfp503	UTSW	14	22,035,825 (GRCm39)	missense	probably benign	0.24
R6865:Zfp503	UTSW	14	22,036,101 (GRCm39)	missense	probably damaging	1.00
R7206:Zfp503	UTSW	14	22,035,553 (GRCm39)	missense	possibly damaging	0.70
R7466:Zfp503	UTSW	14	22,036,079 (GRCm39)	missense	probably benign	0.04
R7994:Zfp503	UTSW	14	22,035,074 (GRCm39)	missense	probably damaging	0.98
R8000:Zfp503	UTSW	14	22,036,227 (GRCm39)	missense	possibly damaging	0.91
R8083:Zfp503	UTSW	14	22,036,132 (GRCm39)	missense	probably damaging	0.96
R8184:Zfp503	UTSW	14	22,036,019 (GRCm39)	missense	possibly damaging	0.55
R8443:Zfp503	UTSW	14	22,036,277 (GRCm39)	missense	probably benign
R8859:Zfp503	UTSW	14	22,037,286 (GRCm39)	missense	possibly damaging	0.70
R9127:Zfp503	UTSW	14	22,037,418 (GRCm39)	missense	probably benign	0.01
R9324:Zfp503	UTSW	14	22,035,353 (GRCm39)	missense	possibly damaging	0.68
R9567:Zfp503	UTSW	14	22,036,041 (GRCm39)	missense	possibly damaging	0.70
Z1176:Zfp503	UTSW	14	22,035,801 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCAGCAGCTCTTCGGAAGTG -3'
(R):5'- CTCTCTTGGCTGCAGTAAGC -3'

Sequencing Primer
(F):5'- TTGTCGCACGGCCCATTAG -3'
(R):5'- TAAGCCAGCGGGTTCGAGTC -3'

Posted On

2016-07-22