Mutagenetix > Incidental Mutation

Incidental Mutation 'R5181:Zfp503'

397567

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

042761-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22034030-22039669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22035705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 404 (A404S)

Ref Sequence

ENSEMBL: ENSMUSP00000046641 (fasta)

Gene Model

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

AlphaFold

Q7TMA2

Predicted Effect

probably benign
Transcript: ENSMUST00000043409
AA Change: A404S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046641
Gene: ENSMUSG00000039081
AA Change: A404S

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

Meta Mutation Damage Score

0.1046

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,764,937 (GRCm39)	D642E	probably benign	Het
Anxa2	T	C	9: 69,383,347 (GRCm39)	V54A	probably benign	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cdca2	A	G	14: 67,917,614 (GRCm39)	S595P	probably damaging	Het
Cenpe	G	A	3: 134,948,064 (GRCm39)	E1208K	probably damaging	Het
Cfh	T	C	1: 140,075,384 (GRCm39)		probably benign	Het
Colq	T	A	14: 31,279,799 (GRCm39)	H9L	probably benign	Het
Coq8b	T	C	7: 26,951,747 (GRCm39)	I403T	possibly damaging	Het
Cyrib	T	A	15: 63,810,526 (GRCm39)	M234L	probably damaging	Het
Dcdc2a	C	A	13: 25,386,347 (GRCm39)	T407K	possibly damaging	Het
Dennd2b	T	C	7: 109,155,997 (GRCm39)	Y251C	probably benign	Het
Gask1b	A	T	3: 79,793,618 (GRCm39)	S29C	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Inpp5f	A	G	7: 128,281,555 (GRCm39)	T519A	probably damaging	Het
Isl2	G	T	9: 55,449,561 (GRCm39)	R79L	probably benign	Het
Kif9	T	A	9: 110,350,336 (GRCm39)	D742E	probably damaging	Het
Lgi2	T	A	5: 52,711,792 (GRCm39)	K176M	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrch4	A	G	5: 137,627,665 (GRCm39)	D66G	probably damaging	Het
Milr1	G	A	11: 106,645,806 (GRCm39)	G116D	probably damaging	Het
Myof	T	C	19: 37,921,071 (GRCm39)	D1397G	possibly damaging	Het
Neurod2	T	C	11: 98,218,204 (GRCm39)	H320R	probably benign	Het
Nox3	A	T	17: 3,685,561 (GRCm39)	Y562*	probably null	Het
Nrap	G	A	19: 56,333,960 (GRCm39)	H884Y	possibly damaging	Het
Odad4	G	A	11: 100,440,719 (GRCm39)	D67N	probably damaging	Het
Pde3a	T	C	6: 141,426,981 (GRCm39)		probably null	Het
Pgm2l1	G	A	7: 99,910,965 (GRCm39)	C303Y	probably benign	Het
Phip	A	G	9: 82,753,243 (GRCm39)		probably benign	Het
Plxna4	A	G	6: 32,493,932 (GRCm39)	I228T	probably damaging	Het
Prdm2	A	G	4: 142,861,536 (GRCm39)	S585P	probably benign	Het
Prpf6	T	C	2: 181,291,339 (GRCm39)	I718T	probably damaging	Het
Rpp40	T	C	13: 36,080,695 (GRCm39)		probably null	Het
Skic2	T	C	17: 35,063,802 (GRCm39)	D547G	probably benign	Het
Slc22a22	T	A	15: 57,118,519 (GRCm39)	Y264F	probably benign	Het
Slc5a4b	A	T	10: 75,896,221 (GRCm39)	L578*	probably null	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Sult2a4	T	G	7: 13,722,316 (GRCm39)	I50L	probably benign	Het
Taar6	T	C	10: 23,860,683 (GRCm39)	T288A	possibly damaging	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tmem98	T	C	11: 80,710,758 (GRCm39)	V139A	probably damaging	Het
Triobp	T	C	15: 78,851,954 (GRCm39)	Y703H	probably benign	Het
Ttc34	A	G	4: 154,946,703 (GRCm39)	T868A	probably benign	Het
Ttn	C	T	2: 76,665,225 (GRCm39)		probably benign	Het
Vipas39	A	T	12: 87,286,601 (GRCm39)	W470R	probably damaging	Het
Vmn2r102	T	C	17: 19,897,003 (GRCm39)	Y117H	probably benign	Het
Vmn2r111	T	C	17: 22,790,001 (GRCm39)	N335S	possibly damaging	Het
Vmn2r70	A	G	7: 85,208,387 (GRCm39)	Y697H	probably damaging	Het
Wnk4	C	A	11: 101,156,203 (GRCm39)	R461S	probably damaging	Het
Xylb	T	A	9: 119,193,567 (GRCm39)	L87Q	probably damaging	Het
Zcchc9	T	A	13: 91,945,281 (GRCm39)	K101*	probably null	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably 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
R5299:Zfp503	UTSW	14	22,035,507 (GRCm39)	missense	probably benign	0.17
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'- CGTTAGGGAGCATGAAACCG -3'
(R):5'- GGTATCTCCCTACAAACCGG -3'

Sequencing Primer
(F):5'- ATCCCGATTTGAGCGCTG -3'
(R):5'- GGCCAGACAGTGTTCCCTCTAC -3'

Posted On

2016-07-06