Mutagenetix > Incidental Mutation

Incidental Mutation 'R6209:Zfp503'

503360

Institutional Source

Beutler Lab

Gene Symbol

Zfp503

Ensembl Gene

ENSMUSG00000039081

Gene Name

zinc finger protein 503

Synonyms

B830002A16Rik, Nolz-1, Nolz1

MMRRC Submission

044343-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21983959-21989601 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 21985710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 379 (Q379H)

Ref Sequence

ENSEMBL: ENSMUSP00000046641 (fasta)

Gene Model

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

AlphaFold

Q7TMA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000043409
AA Change: Q379H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046641
Gene: ENSMUSG00000039081
AA Change: Q379H

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,193,589	M990L	probably benign	Het
Agl	A	T	3: 116,785,196	Y429*	probably null	Het
Ahnak	A	T	19: 9,012,566	K3738M	probably damaging	Het
AI481877	A	G	4: 59,043,869	*1482R	probably null	Het
Amn	G	T	12: 111,275,411	V304L	probably damaging	Het
Ap3s1	G	A	18: 46,779,251	V113I	probably benign	Het
Arhgef28	A	T	13: 97,929,409		probably null	Het
Atad2	A	G	15: 58,118,415	S18P	probably damaging	Het
C4b	T	A	17: 34,741,087	E305V	possibly damaging	Het
Caskin1	T	C	17: 24,507,121	S1401P	possibly damaging	Het
Cblc	A	T	7: 19,785,305	V366D	possibly damaging	Het
Ccdc129	T	A	6: 55,874,321	I62N	probably damaging	Het
Cdk17	A	T	10: 93,208,231	T11S	probably benign	Het
Cenpc1	A	G	5: 86,033,650	S619P	probably benign	Het
Clec4d	T	G	6: 123,270,529		probably null	Het
Disp2	T	C	2: 118,786,921	L132P	probably damaging	Het
Dync2h1	T	C	9: 7,165,677	K528R	probably benign	Het
Fbxw26	A	G	9: 109,717,965	I464T	possibly damaging	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Gabbr2	A	G	4: 46,804,069	V262A	probably damaging	Het
Galnt17	T	A	5: 131,081,596	M302L	probably benign	Het
Gm5096	C	T	18: 87,757,217	A288V	probably damaging	Het
Gpn3	T	C	5: 122,382,112	I243T	probably benign	Het
Gpr160	T	C	3: 30,895,992	V71A	possibly damaging	Het
Gramd1b	G	T	9: 40,333,650	A154D	probably damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
H60b	C	A	10: 22,287,144	T206N	probably benign	Het
Hydin	A	T	8: 110,593,802	I4493F	probably benign	Het
Il19	C	T	1: 130,939,115	E43K	possibly damaging	Het
Ints2	A	G	11: 86,225,058	Y782H	probably damaging	Het
Jph1	C	A	1: 17,097,586	D7Y	probably damaging	Het
Lipo2	T	C	19: 33,749,452	I62V	probably damaging	Het
Map7	G	A	10: 20,276,280		probably null	Het
Matk	T	G	10: 81,259,588	W81G	probably damaging	Het
Matn4	T	C	2: 164,400,815	Y121C	probably damaging	Het
Mical2	G	A	7: 112,324,086		probably null	Het
Miga2	T	G	2: 30,381,662	Y399D	probably damaging	Het
Mocos	A	T	18: 24,666,615	E302V	probably benign	Het
Mrpl11	C	T	19: 4,964,715	A172V	probably damaging	Het
Mrpl48	A	C	7: 100,559,794	Y108D	probably damaging	Het
Mtr	A	G	13: 12,190,392	S1061P	probably benign	Het
Myh11	T	A	16: 14,208,291	K1309*	probably null	Het
Myom2	G	A	8: 15,104,173	V704I	possibly damaging	Het
Nars2	A	G	7: 97,057,521	H413R	probably benign	Het
Nckap1	A	G	2: 80,525,602	L619P	probably damaging	Het
Notch1	T	C	2: 26,472,805	N983S	probably damaging	Het
Nup210	A	G	6: 91,025,355	V717A	probably benign	Het
P4ha3	G	T	7: 100,317,085	G479V	probably benign	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Phf11a	A	G	14: 59,287,579	S59P	probably damaging	Het
Phyhip	G	A	14: 70,463,358	S95N	probably benign	Het
Ppat	A	G	5: 76,918,146	V375A	probably benign	Het
Prkdc	A	G	16: 15,790,592	E3086G	probably damaging	Het
Psg22	A	G	7: 18,719,674	E98G	probably damaging	Het
Rabgap1	A	T	2: 37,563,598	K1013*	probably null	Het
Retreg3	C	T	11: 101,119,700	G27D	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rptn	C	G	3: 93,398,130	H923Q	possibly damaging	Het
Sema6a	A	T	18: 47,298,302		probably null	Het
Sept10	T	C	10: 59,170,848	E349G	probably damaging	Het
Serpina1c	A	G	12: 103,897,170	V257A	probably damaging	Het
Sgpp2	T	A	1: 78,390,482	M84K	probably damaging	Het
Skint11	A	G	4: 114,244,710	S116G	possibly damaging	Het
Slc2a5	G	A	4: 150,143,100	V459I	probably benign	Het
Smarca2	T	G	19: 26,771,004	Y126*	probably null	Het
Stab2	T	G	10: 86,923,003	N1024H	possibly damaging	Het
Svep1	A	C	4: 58,128,869	F609L	probably benign	Het
Tbc1d2	G	A	4: 46,614,068	T671I	probably damaging	Het
Thoc5	T	C	11: 4,905,697	I82T	probably damaging	Het
Tmem173	A	T	18: 35,736,102	I178N	probably damaging	Het
Tmem213	G	T	6: 38,115,582	C83F	probably damaging	Het
Topaz1	G	A	9: 122,750,505	D827N	possibly damaging	Het
Trappc10	C	A	10: 78,214,812	G265V	possibly damaging	Het
Ttn	A	G	2: 76,709,464	S26066P	probably damaging	Het
Zfp292	G	T	4: 34,809,442	Q1201K	probably benign	Het
Zfp354a	T	A	11: 51,060,988		probably null	Het
Zfp418	T	C	7: 7,182,097	V353A	possibly damaging	Het
Zfp444	G	A	7: 6,189,949		probably benign	Het
Zfp804a	A	G	2: 82,258,118	K764E	probably damaging	Het

Other mutations in Zfp503

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01950:Zfp503	APN	14	21986420	missense	probably benign	0.02
IGL02086:Zfp503	APN	14	21987286	missense	possibly damaging	0.91
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCTGAGGCAGTATGGGTC -3'
(R):5'- GAGAAGTCAGGATTCCGGGTAC -3'

Sequencing Primer
(F):5'- TATGGGTCCCGGCACAAACTAG -3'
(R):5'- TGGACGTGAACCAGCACTC -3'

Posted On

2018-02-27