Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02086:Zfp503'

285485

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp503

Ensembl Gene

ENSMUSG00000039081

Gene Name

zinc finger protein 503

Synonyms

B830002A16Rik, Nolz-1, Nolz1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02086

Quality Score

Status

Chromosome

Chromosomal Location

21983959-21989601 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21987286 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 83 (K83R)

Ref Sequence

ENSEMBL: ENSMUSP00000046641 (fasta)

Gene Model

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

AlphaFold

Q7TMA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043409
AA Change: K83R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046641
Gene: ENSMUSG00000039081
AA Change: K83R

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930426L09Rik	T	C	2: 18,998,812		probably benign	Het
Abi3bp	A	G	16: 56,642,567		probably benign	Het
Asb4	T	C	6: 5,398,386	I117T	probably benign	Het
BC005561	A	G	5: 104,519,001	E463G	possibly damaging	Het
Birc6	T	G	17: 74,639,827	L2847R	probably damaging	Het
C2cd2	A	G	16: 97,890,008		probably benign	Het
Ccdc77	C	A	6: 120,339,158	C186F	possibly damaging	Het
Cd300ld2	T	A	11: 115,012,558		probably benign	Het
Cd55b	A	T	1: 130,418,182	D166E	probably benign	Het
Cfap100	A	G	6: 90,413,972	F8L	probably damaging	Het
Col2a1	C	T	15: 97,986,737		probably null	Het
Dbf4	A	G	5: 8,403,189	I270T	probably benign	Het
Dkk3	T	C	7: 112,149,029	S123G	probably benign	Het
Ep400	A	G	5: 110,676,943		probably benign	Het
Fam184a	A	G	10: 53,699,255	I30T	probably damaging	Het
Fam20a	T	C	11: 109,673,413	I505V	probably benign	Het
Fbxo18	T	C	2: 11,764,127	D285G	probably benign	Het
Fcho1	T	C	8: 71,716,800	E154G	probably damaging	Het
Klhdc1	A	G	12: 69,283,184	I362M	probably benign	Het
Knl1	A	T	2: 119,100,774	E1990D	probably benign	Het
Lancl2	A	G	6: 57,734,039	Y394C	probably damaging	Het
Lgi2	G	A	5: 52,565,957	S50F	probably damaging	Het
Map2k7	A	G	8: 4,238,950	E14G	probably damaging	Het
Mga	A	G	2: 119,924,036	I1009V	probably damaging	Het
Nat9	C	A	11: 115,183,408		probably null	Het
Nek2	G	A	1: 191,831,289	A422T	probably benign	Het
Nfkbiz	A	T	16: 55,815,671	L509Q	probably damaging	Het
Olfr661	A	T	7: 104,688,427	R137S	probably benign	Het
Pgap1	T	A	1: 54,547,988	Q143L	probably damaging	Het
Pkd1l3	C	T	8: 109,665,585	T1937I	probably damaging	Het
Pou1f1	A	G	16: 65,529,898	E128G	probably damaging	Het
Ppfia3	T	C	7: 45,340,572		probably benign	Het
Prkd1	T	C	12: 50,387,263	I566V	probably benign	Het
Psd2	A	G	18: 36,005,906	R528G	probably damaging	Het
Ptprg	G	T	14: 12,110,080	E263*	probably null	Het
Radil	T	C	5: 142,543,821	D40G	probably benign	Het
Ryr2	T	A	13: 11,735,556	Y1943F	probably damaging	Het
Slc30a4	C	T	2: 122,702,027		probably benign	Het
Slc31a1	A	T	4: 62,388,004	T120S	possibly damaging	Het
Snrpe	A	G	1: 133,609,749		probably benign	Het
Stx3	G	T	19: 11,818,682		probably benign	Het
Ufsp1	T	A	5: 137,294,916	C43S	probably damaging	Het
Vac14	T	A	8: 110,653,318	M416K	possibly damaging	Het
Vmn1r81	A	C	7: 12,259,865	V272G	possibly damaging	Het
Vmn2r107	T	A	17: 20,357,800	I457K	probably benign	Het
Vmn2r72	A	T	7: 85,738,166	V730E	probably benign	Het
Vmn2r9	T	C	5: 108,847,567	Y405C	probably damaging	Het
Zcchc17	T	C	4: 130,316,647	*242W	probably null	Het

Other mutations in Zfp503

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01950:Zfp503	APN	14	21986420	missense	probably benign	0.02
IGL02824:Zfp503	APN	14	21985094	missense	possibly damaging	0.95
R0317:Zfp503	UTSW	14	21986459	missense	probably benign	0.02
R1640:Zfp503	UTSW	14	21984901	missense	probably damaging	0.99
R1786:Zfp503	UTSW	14	21985520	missense	possibly damaging	0.86
R2414:Zfp503	UTSW	14	21985964	nonsense	probably null
R5181:Zfp503	UTSW	14	21985637	missense	probably benign	0.04
R5299:Zfp503	UTSW	14	21985439	missense	probably benign	0.17
R5994:Zfp503	UTSW	14	21985562	missense	possibly damaging	0.91
R6209:Zfp503	UTSW	14	21985710	missense	probably damaging	0.98
R6267:Zfp503	UTSW	14	21985800	nonsense	probably null
R6296:Zfp503	UTSW	14	21985800	nonsense	probably null
R6714:Zfp503	UTSW	14	21985757	missense	probably benign	0.24
R6865:Zfp503	UTSW	14	21986033	missense	probably damaging	1.00
R7206:Zfp503	UTSW	14	21985485	missense	possibly damaging	0.70
R7466:Zfp503	UTSW	14	21986011	missense	probably benign	0.04
R7994:Zfp503	UTSW	14	21985006	missense	probably damaging	0.98
R8000:Zfp503	UTSW	14	21986159	missense	possibly damaging	0.91
R8083:Zfp503	UTSW	14	21986064	missense	probably damaging	0.96
R8184:Zfp503	UTSW	14	21985951	missense	possibly damaging	0.55
R8443:Zfp503	UTSW	14	21986209	missense	probably benign
R8859:Zfp503	UTSW	14	21987218	missense	possibly damaging	0.70
R9127:Zfp503	UTSW	14	21987350	missense	probably benign	0.01
R9324:Zfp503	UTSW	14	21985285	missense	possibly damaging	0.68
R9567:Zfp503	UTSW	14	21985973	missense	possibly damaging	0.70
Z1176:Zfp503	UTSW	14	21985733	missense	probably damaging	0.98

Posted On

2015-04-16