Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03231:Magee2'

413912

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Magee2

Ensembl Gene

ENSMUSG00000031224

Gene Name

MAGE family member E2

Synonyms

9630059J11Rik, Mage-e2

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03231

Quality Score

Status

Chromosome

Chromosomal Location

103898558-103900873 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103899944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 236 (L236M)

Ref Sequence

ENSEMBL: ENSMUSP00000033575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033575]

AlphaFold

Q52KG3

Predicted Effect

probably damaging
Transcript: ENSMUST00000033575
AA Change: L236M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033575
Gene: ENSMUSG00000031224
AA Change: L236M

Domain	Start	End	E-Value	Type
MAGE	95	266	1.86e-57	SMART
MAGE	318	480	3.42e-47	SMART
low complexity region	500	516	N/A	INTRINSIC

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 encodes a member of the E subfamily of MAGE (melanoma antigen-encoding gene) gene family. The gene is intronless and the encoded protein has two of the MAGE domains which are characteristic of MAGE family proteins. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,046,094 (GRCm39)	F277V	probably damaging	Het
Arel1	T	A	12: 84,981,084 (GRCm39)	T308S	probably benign	Het
Asic1	T	A	15: 99,596,983 (GRCm39)	H548Q	probably benign	Het
B3galt1	T	C	2: 67,948,947 (GRCm39)	Y221H	probably damaging	Het
Bltp2	A	G	11: 78,159,528 (GRCm39)	T526A	probably benign	Het
Brs3	G	T	X: 56,090,804 (GRCm39)	C221F	probably benign	Het
Capn7	G	A	14: 31,077,247 (GRCm39)	G322R	probably damaging	Het
Ccdc138	T	C	10: 58,409,528 (GRCm39)	L619P	probably damaging	Het
Cdh22	C	T	2: 164,958,126 (GRCm39)	V614I	probably benign	Het
Dnah5	C	T	15: 28,311,294 (GRCm39)	R1758W	probably damaging	Het
Dr1	T	C	5: 108,423,474 (GRCm39)	V87A	probably benign	Het
F830045P16Rik	A	G	2: 129,302,393 (GRCm39)	S400P	probably damaging	Het
Fcgbpl1	A	G	7: 27,853,147 (GRCm39)	E1478G	possibly damaging	Het
Fyb2	T	A	4: 104,843,460 (GRCm39)	Y353*	probably null	Het
Gm28043	A	G	17: 29,854,916 (GRCm39)	D457G	probably damaging	Het
Gsap	T	C	5: 21,434,164 (GRCm39)	V260A	probably damaging	Het
Kcnt2	A	T	1: 140,461,740 (GRCm39)		probably benign	Het
Map4k3	A	T	17: 80,905,104 (GRCm39)	V729E	probably damaging	Het
Myh13	A	G	11: 67,242,817 (GRCm39)	E910G	possibly damaging	Het
Nbeal1	G	T	1: 60,275,618 (GRCm39)	A651S	probably benign	Het
Nhsl3	C	T	4: 129,117,474 (GRCm39)	V385I	possibly damaging	Het
Nuak2	A	T	1: 132,255,915 (GRCm39)	D188V	probably damaging	Het
Nup210l	A	G	3: 90,096,852 (GRCm39)	T1354A	probably damaging	Het
Or10q1	A	T	19: 13,726,749 (GRCm39)	Q93L	probably benign	Het
Pof1b	C	T	X: 111,554,987 (GRCm39)	S506N	possibly damaging	Het
Prrt3	A	G	6: 113,474,485 (GRCm39)	S246P	possibly damaging	Het
Rps6ka6	T	A	X: 110,360,018 (GRCm39)	T43S	probably benign	Het
Slc19a2	G	T	1: 164,088,449 (GRCm39)	W98L	probably damaging	Het
Snap29	C	T	16: 17,244,964 (GRCm39)	S195L	probably benign	Het
Stt3b	C	T	9: 115,073,062 (GRCm39)	G815S	unknown	Het
Tm9sf2	T	G	14: 122,378,664 (GRCm39)	I256R	possibly damaging	Het
Tpbpb	A	T	13: 61,049,996 (GRCm39)	N44K	probably damaging	Het
Trim13	A	G	14: 61,842,994 (GRCm39)	E337G	probably benign	Het
Trmt6	A	T	2: 132,657,756 (GRCm39)	D33E	probably benign	Het
Trpm6	T	A	19: 18,796,545 (GRCm39)	S800R	probably benign	Het
V1rd19	A	G	7: 23,703,328 (GRCm39)	I265V	probably benign	Het
Xkrx	A	G	X: 133,051,391 (GRCm39)	L420P	probably damaging	Het
Zfp618	T	C	4: 63,012,716 (GRCm39)	Y167H	probably damaging	Het

Other mutations in Magee2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Magee2	APN	X	103,900,447 (GRCm39)	missense	probably benign	0.05
IGL01700:Magee2	APN	X	103,899,574 (GRCm39)	missense	possibly damaging	0.49
IGL02377:Magee2	APN	X	103,900,399 (GRCm39)	missense	possibly damaging	0.86
IGL03366:Magee2	APN	X	103,899,134 (GRCm39)	nonsense	probably null
R0741:Magee2	UTSW	X	103,899,472 (GRCm39)	missense	probably damaging	1.00
R8555:Magee2	UTSW	X	103,900,087 (GRCm39)	missense	probably damaging	1.00
X0009:Magee2	UTSW	X	103,900,448 (GRCm39)	missense	probably benign

Posted On

2016-08-02