Mutagenetix > Incidental Mutation

Incidental Mutation 'R6865:Zfp503'

535880

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

045027-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6865 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22034030-22039669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22036101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 272 (G272C)

Ref Sequence

ENSEMBL: ENSMUSP00000046641 (fasta)

Gene Model

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

AlphaFold

Q7TMA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000043409
AA Change: G272C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046641
Gene: ENSMUSG00000039081
AA Change: G272C

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: 99.4%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	A	13: 4,320,212 (GRCm39)	M293L	possibly damaging	Het
Ankrd11	T	C	8: 123,621,683 (GRCm39)	D723G	probably benign	Het
Ankrd26	T	C	6: 118,500,442 (GRCm39)	R1010G	possibly damaging	Het
Apob	G	A	12: 8,058,847 (GRCm39)	R2410H	probably benign	Het
Auh	T	C	13: 52,992,165 (GRCm39)	D275G	probably damaging	Het
Card10	G	T	15: 78,686,822 (GRCm39)	D47E	possibly damaging	Het
Ccdc141	C	T	2: 76,859,579 (GRCm39)		probably null	Het
Cfap206	T	C	4: 34,714,448 (GRCm39)	Y416C	possibly damaging	Het
Chuk	A	T	19: 44,075,354 (GRCm39)	Y500*	probably null	Het
Cop1	T	A	1: 159,136,524 (GRCm39)	D536E	probably damaging	Het
Crh	G	C	3: 19,748,304 (GRCm39)	P113A	possibly damaging	Het
Ddx54	T	G	5: 120,759,892 (GRCm39)		probably null	Het
Efcab7	T	C	4: 99,769,793 (GRCm39)	S127P	probably damaging	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Fga	T	A	3: 82,938,848 (GRCm39)	C408S	probably damaging	Het
Flot2	T	C	11: 77,940,318 (GRCm39)	S22P	probably benign	Het
Fndc1	T	A	17: 7,991,672 (GRCm39)	T675S	unknown	Het
Foxc1	A	G	13: 31,992,836 (GRCm39)	D549G	unknown	Het
Gldc	T	C	19: 30,111,162 (GRCm39)	N538S	possibly damaging	Het
Grk4	T	G	5: 34,888,894 (GRCm39)	V346G	probably damaging	Het
Gucy2c	T	C	6: 136,747,127 (GRCm39)	R111G	probably benign	Het
Heatr6	C	T	11: 83,659,966 (GRCm39)	H504Y	probably damaging	Het
Lrp5	A	T	19: 3,670,013 (GRCm39)		probably null	Het
Msrb1	T	C	17: 24,955,685 (GRCm39)	S2P	possibly damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo3a	A	G	2: 22,464,313 (GRCm39)	I185V	probably benign	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Nek6	A	G	2: 38,459,678 (GRCm39)	I174V	probably benign	Het
Nmt2	T	C	2: 3,315,766 (GRCm39)	V252A	probably damaging	Het
Nudt9	G	T	5: 104,207,545 (GRCm39)	R179M	probably damaging	Het
Nwd1	T	C	8: 73,383,690 (GRCm39)	V29A	possibly damaging	Het
Olah	T	C	2: 3,343,964 (GRCm39)	D216G	possibly damaging	Het
Or13c7b	T	C	4: 43,821,346 (GRCm39)	N5S	probably benign	Het
Or52n2	T	C	7: 104,542,719 (GRCm39)	I39V	probably benign	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pkd1	T	C	17: 24,795,461 (GRCm39)	V2318A	probably benign	Het
Pknox1	T	A	17: 31,807,534 (GRCm39)	M51K	probably damaging	Het
Ppp1r12a	C	T	10: 108,098,242 (GRCm39)	R321*	probably null	Het
Pxdn	A	G	12: 30,064,582 (GRCm39)		probably null	Het
Rab44	A	T	17: 29,358,201 (GRCm39)	I130F	probably benign	Het
Rnf130	T	C	11: 49,962,091 (GRCm39)	I179T	probably damaging	Het
Slc22a28	A	T	19: 8,041,856 (GRCm39)	C450*	probably null	Het
Slco1c1	A	T	6: 141,485,778 (GRCm39)	Y136F	probably damaging	Het
Synj2	C	T	17: 6,067,844 (GRCm39)	Q106*	probably null	Het
Uckl1	T	C	2: 181,216,286 (GRCm39)	N138S	probably damaging	Het
Usp19	G	T	9: 108,376,018 (GRCm39)	E203*	probably null	Het
Vdr	A	G	15: 97,755,386 (GRCm39)	I379T	probably damaging	Het
Zfyve9	T	C	4: 108,501,558 (GRCm39)	N1218S	possibly damaging	Het
Zzz3	T	A	3: 152,133,690 (GRCm39)	D249E	probably benign	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
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
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'- CGGTTTGTAGGGAGATACCG -3'
(R):5'- GAAGTCAGGATTCCGGGTAC -3'

Sequencing Primer
(F):5'- CCAAAACCGACGACGAGGTG -3'
(R):5'- GTACCGAGCGCCACCTG -3'

Posted On

2018-10-18