Mutagenetix > Incidental Mutation

Incidental Mutation 'R8000:Zfp503'

616333

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

046040-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8000 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22034030-22039669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22036227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 230 (T230A)

Ref Sequence

ENSEMBL: ENSMUSP00000046641 (fasta)

Gene Model

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

AlphaFold

Q7TMA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043409
AA Change: T230A

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

SMART Domains

Protein: ENSMUSP00000046641
Gene: ENSMUSG00000039081
AA Change: T230A

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,924,796 (GRCm39)	K121R	possibly damaging	Het
Acaca	A	G	11: 84,283,057 (GRCm39)	K2208E	possibly damaging	Het
Actn1	A	G	12: 80,245,782 (GRCm39)	F134L	probably damaging	Het
Akt3	A	T	1: 176,877,763 (GRCm39)	V335D	probably damaging	Het
Arhgef10	T	G	8: 14,980,054 (GRCm39)	I98S	probably damaging	Het
Celf4	T	C	18: 25,637,574 (GRCm39)	N209S	probably benign	Het
Col4a4	G	A	1: 82,519,018 (GRCm39)	P59L	unknown	Het
Dmwd	C	T	7: 18,814,660 (GRCm39)	L437F	probably damaging	Het
Dock4	T	A	12: 40,883,118 (GRCm39)	L1642I	probably benign	Het
Fads2b	A	G	2: 85,349,070 (GRCm39)	V14A	probably benign	Het
Fap	A	G	2: 62,333,142 (GRCm39)		probably null	Het
Fbh1	A	T	2: 11,772,100 (GRCm39)	Y194N	probably benign	Het
Fras1	A	G	5: 96,910,536 (GRCm39)	T3322A	probably damaging	Het
Frey1	A	G	2: 92,215,872 (GRCm39)	K69E	unknown	Het
Gabra4	A	G	5: 71,781,304 (GRCm39)	F369S	probably damaging	Het
Igkv9-124	T	A	6: 67,919,136 (GRCm39)	D92V	probably damaging	Het
Kcna6	C	A	6: 126,715,948 (GRCm39)	E314*	probably null	Het
Kyat1	A	C	2: 30,082,065 (GRCm39)	S25A	probably benign	Het
Lars2	G	A	9: 123,265,309 (GRCm39)	G455D	probably damaging	Het
Mertk	A	G	2: 128,613,418 (GRCm39)	H478R	probably benign	Het
Mier1	A	T	4: 102,988,240 (GRCm39)	T83S	probably damaging	Het
Mmp1a	C	A	9: 7,476,215 (GRCm39)	H437Q	probably benign	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Neb	G	T	2: 52,178,856 (GRCm39)	A1300D	probably damaging	Het
Nell2	T	A	15: 95,333,155 (GRCm39)	L167F	probably damaging	Het
Or10h1	G	C	17: 33,418,321 (GRCm39)	A100P	probably damaging	Het
Or12j2	T	A	7: 139,916,255 (GRCm39)	M160K	possibly damaging	Het
Or4d10c	T	C	19: 12,065,358 (GRCm39)	D266G	probably damaging	Het
Pald1	T	C	10: 61,183,218 (GRCm39)	T339A	probably benign	Het
Pex13	A	C	11: 23,605,915 (GRCm39)	L105W	probably damaging	Het
Prxl2a	A	C	14: 40,716,483 (GRCm39)	*230G	probably null	Het
Ptprd	A	C	4: 75,984,479 (GRCm39)	F556V	possibly damaging	Het
Rgp1	T	A	4: 43,581,664 (GRCm39)	C314S	probably benign	Het
Rnaseh2a	G	A	8: 85,692,678 (GRCm39)		probably benign	Het
Rpl7	A	T	1: 16,172,949 (GRCm39)	M154K	probably benign	Het
Samd9l	A	T	6: 3,373,034 (GRCm39)	L1409Q	probably damaging	Het
Slc35f3	A	G	8: 127,047,812 (GRCm39)	T51A	probably benign	Het
Slc7a10	A	G	7: 34,899,865 (GRCm39)	Y76C		Het
Slk	G	T	19: 47,597,344 (GRCm39)	A51S		Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Stk38	A	T	17: 29,211,422 (GRCm39)	V51E	probably benign	Het
Tecta	A	T	9: 42,278,480 (GRCm39)	C1009*	probably null	Het
Vmn1r228	A	T	17: 20,997,227 (GRCm39)	M97K	possibly damaging	Het
Xpo4	T	C	14: 57,827,403 (GRCm39)	D931G	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
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
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
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'- TAGAGGGAACACTGTCTGGC -3'
(R):5'- CGTGGAGGACAAGTCGAGTTTC -3'

Sequencing Primer
(F):5'- AGTGCTGGTTCACGTCCAC -3'
(R):5'- GGACAAGTCGAGTTTCAAGCCTTAC -3'

Posted On

2020-01-23