Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01675:Magea10'

103624

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Magea10

Ensembl Gene

ENSMUSG00000043453

Gene Name

MAGE family member A10

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL01675

Quality Score

Status

Chromosome

Chromosomal Location

71425476-71430464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71426721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 91 (V91A)

Ref Sequence

ENSEMBL: ENSMUSP00000085832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088481]

AlphaFold

A2AMW4

Predicted Effect

probably benign
Transcript: ENSMUST00000088481
AA Change: V91A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000085832
Gene: ENSMUSG00000043453
AA Change: V91A

Domain	Start	End	E-Value	Type
MAGE_N	3	102	1.86e-7	SMART
MAGE	125	295	2.52e-109	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream melanoma antigen family A, 5 (MAGEA5) gene.[provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadps2	G	T	6: 23,382,904 (GRCm39)	L790I	probably damaging	Het
Hecw1	C	T	13: 14,409,007 (GRCm39)	R1100Q	probably damaging	Het
Itga7	T	C	10: 128,782,724 (GRCm39)	L691P	probably damaging	Het
Kcnh1	A	G	1: 192,019,901 (GRCm39)	D382G	probably benign	Het
Kcnh5	A	T	12: 75,161,274 (GRCm39)	C211*	probably null	Het
Lama2	T	C	10: 27,064,050 (GRCm39)	T1276A	possibly damaging	Het
Mtor	A	G	4: 148,569,111 (GRCm39)	T1143A	probably benign	Het
Pira13	A	C	7: 3,825,607 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,089,539 (GRCm39)	Q763R	probably damaging	Het
Slirp	G	A	12: 87,490,787 (GRCm39)	A24T	probably damaging	Het
Tlr6	A	T	5: 65,111,842 (GRCm39)	I355N	probably damaging	Het
Tyw5	G	A	1: 57,427,791 (GRCm39)	A271V	possibly damaging	Het
Vav3	G	A	3: 109,571,729 (GRCm39)	G217D	probably benign	Het
Vmn2r65	A	G	7: 84,596,587 (GRCm39)	I156T	probably benign	Het
Vmn2r79	A	G	7: 86,645,856 (GRCm39)	N62D	probably benign	Het

Other mutations in Magea10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1998:Magea10	UTSW	X	71,426,379 (GRCm39)	missense	probably benign	0.35
R2000:Magea10	UTSW	X	71,426,379 (GRCm39)	missense	probably benign	0.35

Posted On

2014-01-21