Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01745:Zfp593'

152996

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp593

Ensembl Gene

ENSMUSG00000028840

Gene Name

zinc finger protein 593

Synonyms

E130106C14Rik, 3110024A21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

IGL01745

Quality Score

Status

Chromosome

Chromosomal Location

133970617-133972902 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133972355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 82 (S82P)

Ref Sequence

ENSEMBL: ENSMUSP00000030644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030644] [ENSMUST00000122952] [ENSMUST00000124452] [ENSMUST00000125921] [ENSMUST00000131447] [ENSMUST00000135228] [ENSMUST00000144222] [ENSMUST00000205501] [ENSMUST00000143448]

AlphaFold

Q9DB42

Predicted Effect

probably damaging
Transcript: ENSMUST00000030644
AA Change: S82P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030644
Gene: ENSMUSG00000028840
AA Change: S82P

Domain	Start	End	E-Value	Type
low complexity region	40	60	N/A	INTRINSIC
ZnF_C2H2	61	85	6.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122952

Predicted Effect

probably benign
Transcript: ENSMUST00000124452

Predicted Effect

probably benign
Transcript: ENSMUST00000125921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129183

Predicted Effect

probably benign
Transcript: ENSMUST00000131447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134320

Predicted Effect

probably benign
Transcript: ENSMUST00000135228

Predicted Effect

probably benign
Transcript: ENSMUST00000144222

Predicted Effect

probably benign
Transcript: ENSMUST00000205501

Predicted Effect

probably benign
Transcript: ENSMUST00000143448

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc153	T	G	9: 44,154,408 (GRCm39)	S56R	possibly damaging	Het
Chct1	A	G	11: 85,063,696 (GRCm39)	T30A	probably benign	Het
D630045J12Rik	T	C	6: 38,168,655 (GRCm39)	K965E	probably damaging	Het
F2rl1	A	G	13: 95,650,261 (GRCm39)	V207A	probably benign	Het
Matn4	A	G	2: 164,242,663 (GRCm39)	V145A	probably damaging	Het
Mllt6	T	G	11: 97,567,754 (GRCm39)	L757R	probably damaging	Het
Or2at4	A	G	7: 99,384,595 (GRCm39)	T82A	probably damaging	Het
Or5g26	T	C	2: 85,493,921 (GRCm39)	N286D	possibly damaging	Het
Or5m3b	T	A	2: 85,872,381 (GRCm39)	S241T	possibly damaging	Het
Prrc2c	A	G	1: 162,552,297 (GRCm39)	S30P	probably damaging	Het
Setd2	T	C	9: 110,423,779 (GRCm39)	V2278A	probably damaging	Het
Slco4a1	G	A	2: 180,106,472 (GRCm39)	C218Y	probably damaging	Het
Vps35	A	T	8: 86,000,092 (GRCm39)		probably benign	Het

Other mutations in Zfp593

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0885:Zfp593	UTSW	4	133,972,224 (GRCm39)	missense	probably benign	0.11
R1818:Zfp593	UTSW	4	133,972,394 (GRCm39)	splice site	probably null
R1986:Zfp593	UTSW	4	133,972,206 (GRCm39)	missense	possibly damaging	0.94
R2570:Zfp593	UTSW	4	133,972,869 (GRCm39)	unclassified	probably benign
R4349:Zfp593	UTSW	4	133,972,367 (GRCm39)	missense	probably benign	0.25
R4740:Zfp593	UTSW	4	133,972,077 (GRCm39)	unclassified	probably benign
R5393:Zfp593	UTSW	4	133,972,615 (GRCm39)	missense	probably benign	0.00
R6323:Zfp593	UTSW	4	133,972,224 (GRCm39)	missense	probably benign	0.11
Z1088:Zfp593	UTSW	4	133,972,753 (GRCm39)	missense	probably benign	0.00

Posted On

2014-02-04