Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02411:Maged2'

292292

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Maged2

Ensembl Gene

ENSMUSG00000025268

Gene Name

MAGE family member D2

Synonyms

Mage-d2, 4833439A22Rik, ORF1

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02411

Quality Score

Status

Chromosome

Chromosomal Location

149589417-149597358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 149592755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 343 (D343E)

Ref Sequence

ENSEMBL: ENSMUSP00000108320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026302] [ENSMUST00000112697] [ENSMUST00000112699] [ENSMUST00000112700] [ENSMUST00000129768] [ENSMUST00000147152] [ENSMUST00000131241] [ENSMUST00000143843]

AlphaFold

Q9ER67

Predicted Effect

probably benign
Transcript: ENSMUST00000026302
AA Change: D343E

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026302
Gene: ENSMUSG00000025268
AA Change: D343E

Domain	Start	End	E-Value	Type
low complexity region	72	88	N/A	INTRINSIC
low complexity region	210	219	N/A	INTRINSIC
low complexity region	226	261	N/A	INTRINSIC
Pfam:MAGE	286	456	1.5e-58	PFAM
low complexity region	476	501	N/A	INTRINSIC
low complexity region	541	584	N/A	INTRINSIC
low complexity region	588	612	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112697
AA Change: D343E

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108317
Gene: ENSMUSG00000025268
AA Change: D343E

Domain	Start	End	E-Value	Type
low complexity region	72	88	N/A	INTRINSIC
low complexity region	210	219	N/A	INTRINSIC
low complexity region	226	261	N/A	INTRINSIC
Pfam:MAGE	286	456	1.5e-58	PFAM
low complexity region	476	501	N/A	INTRINSIC
low complexity region	541	584	N/A	INTRINSIC
low complexity region	588	612	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112699
AA Change: D343E

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108319
Gene: ENSMUSG00000025268
AA Change: D343E

Domain	Start	End	E-Value	Type
low complexity region	72	88	N/A	INTRINSIC
low complexity region	210	219	N/A	INTRINSIC
low complexity region	226	261	N/A	INTRINSIC
Pfam:MAGE	286	456	1.5e-58	PFAM
low complexity region	476	501	N/A	INTRINSIC
low complexity region	541	584	N/A	INTRINSIC
low complexity region	588	612	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112700
AA Change: D343E

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108320
Gene: ENSMUSG00000025268
AA Change: D343E

Domain	Start	End	E-Value	Type
low complexity region	72	88	N/A	INTRINSIC
low complexity region	210	219	N/A	INTRINSIC
low complexity region	226	261	N/A	INTRINSIC
MAGE	286	456	3.34e-91	SMART
low complexity region	476	501	N/A	INTRINSIC
low complexity region	541	584	N/A	INTRINSIC
low complexity region	588	612	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124537

Predicted Effect

probably benign
Transcript: ENSMUST00000129768

SMART Domains

Protein: ENSMUSP00000115770
Gene: ENSMUSG00000025268

Domain	Start	End	E-Value	Type
low complexity region	72	88	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145342

Predicted Effect

probably benign
Transcript: ENSMUST00000147152

SMART Domains

Protein: ENSMUSP00000116332
Gene: ENSMUSG00000025268

Domain	Start	End	E-Value	Type
low complexity region	66	76	N/A	INTRINSIC
low complexity region	141	150	N/A	INTRINSIC
low complexity region	157	192	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131241

SMART Domains

Protein: ENSMUSP00000120903
Gene: ENSMUSG00000025268

Domain	Start	End	E-Value	Type
low complexity region	72	88	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143843

SMART Domains

Protein: ENSMUSP00000119088
Gene: ENSMUSG00000025268

Domain	Start	End	E-Value	Type
low complexity region	72	88	N/A	INTRINSIC
low complexity region	210	219	N/A	INTRINSIC
low complexity region	226	261	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 is a member of the MAGED gene family. The MAGED genes are clustered on chromosome Xp11. This gene is located in Xp11.2, a hot spot for X-linked mental retardation (XLMR). This gene may also be involved in several types of cancer, including breast cancer and melanoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,459 (GRCm39)	E65G	probably benign	Het
Abcc8	G	A	7: 45,756,431 (GRCm39)	R1425C	probably damaging	Het
Adcy3	A	T	12: 4,259,407 (GRCm39)		probably null	Het
AI661453	T	G	17: 47,778,263 (GRCm39)		probably benign	Het
Arhgef10	A	T	8: 15,004,819 (GRCm39)	Y445F	probably benign	Het
Atrx	G	T	X: 104,874,587 (GRCm39)	S1924R	possibly damaging	Het
Clca3a1	T	C	3: 144,733,763 (GRCm39)	T58A	possibly damaging	Het
Clec1b	A	G	6: 129,378,804 (GRCm39)	Y97C	probably damaging	Het
Cobll1	A	G	2: 64,928,084 (GRCm39)	S1080P	probably damaging	Het
Crb1	C	A	1: 139,176,213 (GRCm39)	C529F	probably damaging	Het
Crim1	C	T	17: 78,642,763 (GRCm39)	R494*	probably null	Het
Cyp3a25	A	T	5: 145,938,257 (GRCm39)		probably benign	Het
Dntt	T	A	19: 41,041,424 (GRCm39)		probably null	Het
Gjb1	T	C	X: 100,428,611 (GRCm39)	C280R	probably damaging	Het
Glp1r	T	A	17: 31,143,485 (GRCm39)	C174S	probably damaging	Het
Gm5414	A	T	15: 101,536,269 (GRCm39)	Y119N	probably benign	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Gm9796	G	T	11: 95,588,756 (GRCm39)		noncoding transcript	Het
Gm9956	T	C	10: 56,621,388 (GRCm39)	F17L	unknown	Het
Il1rap	A	T	16: 26,529,366 (GRCm39)	D396V	probably damaging	Het
Impa1	T	C	3: 10,388,018 (GRCm39)	K135E	possibly damaging	Het
Iqub	G	A	6: 24,449,810 (GRCm39)	A685V	probably damaging	Het
Jade3	T	C	X: 20,379,063 (GRCm39)	V512A	probably benign	Het
Kif3a	C	A	11: 53,461,525 (GRCm39)	P57T	probably damaging	Het
Kndc1	G	T	7: 139,501,829 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Magi2	T	C	5: 19,883,707 (GRCm39)	S120P	probably damaging	Het
Nxph3	A	T	11: 95,401,656 (GRCm39)	*253R	probably null	Het
Oog2	A	T	4: 143,921,618 (GRCm39)	H194L	probably damaging	Het
Pcbd2	T	G	13: 55,880,764 (GRCm39)	W7G	probably benign	Het
Pcdhb14	T	G	18: 37,582,823 (GRCm39)	L643R	possibly damaging	Het
Plch1	G	T	3: 63,605,177 (GRCm39)		probably null	Het
Poln	G	T	5: 34,270,666 (GRCm39)	S455*	probably null	Het
Ppp2r1a	T	C	17: 21,171,596 (GRCm39)		probably benign	Het
Rsu1	T	G	2: 13,082,308 (GRCm39)		probably benign	Het
Serpina10	A	T	12: 103,583,202 (GRCm39)	M360K	possibly damaging	Het
Sox30	A	T	11: 45,871,951 (GRCm39)	K269*	probably null	Het
Thbs1	T	C	2: 117,945,451 (GRCm39)	V310A	probably benign	Het
Tie1	C	A	4: 118,343,760 (GRCm39)	E61*	probably null	Het
Tm2d1	G	T	4: 98,268,911 (GRCm39)	P62Q	probably damaging	Het
Tpp1	G	T	7: 105,398,826 (GRCm39)	P201Q	probably damaging	Het
Trim13	A	G	14: 61,842,598 (GRCm39)	E205G	probably damaging	Het

Other mutations in Maged2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0626:Maged2	UTSW	X	149,594,830 (GRCm39)	missense	probably damaging	0.97
X0028:Maged2	UTSW	X	149,594,899 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16