Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00584:Rgn'

3141

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgn

Ensembl Gene

ENSMUSG00000023070

Gene Name

regucalcin

Synonyms

SMP30

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00584

Quality Score

Status

Chromosome

Chromosomal Location

20416026-20428328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20423756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 118 (M118L)

Ref Sequence

ENSEMBL: ENSMUSP00000023832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023832]

AlphaFold

Q64374

PDB Structure

mouse SMP30/GNL [X-RAY DIFFRACTION]
mouse SMP30/GNL-1,5-AG complex [X-RAY DIFFRACTION]
mouse SMP30/GNL-glucose complex [X-RAY DIFFRACTION]
mouse SMP30/GNL-xylitol complex [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000023832
AA Change: M118L

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023832
Gene: ENSMUSG00000023070
AA Change: M118L

Domain	Start	End	E-Value	Type
Pfam:SGL	16	264	2.4e-80	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a disruption in this gene show increased levels of apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cep162	T	C	9: 87,103,143 (GRCm39)		probably benign	Het
Ces4a	G	T	8: 105,871,795 (GRCm39)	M288I	probably benign	Het
Dusp19	G	A	2: 80,461,126 (GRCm39)		probably null	Het
Eif4g1	C	A	16: 20,505,504 (GRCm39)		probably benign	Het
Farp1	T	G	14: 121,474,561 (GRCm39)	I258S	probably damaging	Het
Galnt18	T	A	7: 111,071,202 (GRCm39)	Q589L	probably damaging	Het
Gimap7	T	A	6: 48,700,667 (GRCm39)	C84*	probably null	Het
Il12rb2	T	C	6: 67,334,676 (GRCm39)	T168A	probably damaging	Het
Krba1	T	C	6: 48,383,252 (GRCm39)	L216S	possibly damaging	Het
Mki67	T	C	7: 135,297,424 (GRCm39)	K2537E	probably damaging	Het
Myo6	G	T	9: 80,149,555 (GRCm39)		probably benign	Het
Nbea	T	A	3: 55,989,869 (GRCm39)	N329I	probably damaging	Het
Ndufb11	T	A	X: 20,483,339 (GRCm39)	Q54L	possibly damaging	Het
Nudt1	T	C	5: 140,323,465 (GRCm39)	F139S	probably damaging	Het
Syt12	C	T	19: 4,497,873 (GRCm39)	V370M	probably damaging	Het
Syt14	A	T	1: 192,612,792 (GRCm39)	N669K	possibly damaging	Het

Other mutations in Rgn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02375:Rgn	APN	X	20,416,700 (GRCm39)	missense	probably damaging	1.00
R1400:Rgn	UTSW	X	20,416,696 (GRCm39)	missense	probably benign

Posted On

2012-04-20