Mutagenetix > Incidental Mutations

Incidental Mutation 'R4931:Magel2'

380561

Institutional Source

Beutler Lab

Gene Symbol

Magel2

Ensembl Gene

ENSMUSG00000056972

Gene Name

melanoma antigen, family L, 2

Synonyms

nM15, ns7, NDNL1, Mage-l2

MMRRC Submission

042532-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4931 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62377010-62381640 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62380624 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1092 (D1092G)

Ref Sequence

ENSEMBL: ENSMUSP00000079265 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080403]

Predicted Effect

unknown
Transcript: ENSMUST00000080403
AA Change: D1092G

SMART Domains

Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972
AA Change: D1092G

Domain	Start	End	E-Value	Type
low complexity region	30	49	N/A	INTRINSIC
low complexity region	51	84	N/A	INTRINSIC
internal_repeat_1	85	131	2.45e-10	PROSPERO
low complexity region	134	205	N/A	INTRINSIC
internal_repeat_1	222	298	2.45e-10	PROSPERO
internal_repeat_2	289	332	6.32e-5	PROSPERO
low complexity region	347	363	N/A	INTRINSIC
low complexity region	467	492	N/A	INTRINSIC
internal_repeat_2	494	535	6.32e-5	PROSPERO
low complexity region	560	648	N/A	INTRINSIC
low complexity region	675	686	N/A	INTRINSIC
low complexity region	761	785	N/A	INTRINSIC
low complexity region	903	920	N/A	INTRINSIC
MAGE	1059	1229	6.82e-65	SMART
low complexity region	1262	1284	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207232

Meta Mutation Damage Score

0.0885

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

95% (78/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice heterozygous for a null allele that is inherited paternally exhibit some postnatal lethality, reduced male fertility, abnormal circadian rhythm, and hypoactivity. Mice heterozygous for another paternal knock-out allele exhibit 50% neonatal lethalityassociated with weak suckling activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,938,120	D21G	probably benign	Het
4930402H24Rik	A	G	2: 130,741,873	F496L	possibly damaging	Het
4930562C15Rik	T	C	16: 4,861,046	L68P	possibly damaging	Het
Ache	A	G	5: 137,291,914	I414V	probably benign	Het
Acy1	G	A	9: 106,433,191	H308Y	probably damaging	Het
AF529169	T	C	9: 89,601,652	H564R	probably benign	Het
Aldh1b1	A	C	4: 45,803,661	I400L	probably benign	Het
Ankrd40	T	A	11: 94,334,821	L226Q	probably benign	Het
B3gnt9	T	C	8: 105,254,244	T171A	probably benign	Het
Ccdc33	T	C	9: 58,069,851	Y289C	probably damaging	Het
Cd209f	A	T	8: 4,103,688	I187N	probably damaging	Het
Cers6	T	G	2: 69,105,112	S319A	probably damaging	Het
Chrna4	A	G	2: 181,028,872	S364P	probably benign	Het
Chrnb3	T	C	8: 27,394,230	S317P	probably damaging	Het
Dapk1	T	C	13: 60,760,960	V1129A	probably benign	Het
Dhx9	G	A	1: 153,472,673	P302L	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Duox2	T	C	2: 122,296,755	N147S	probably benign	Het
Dytn	T	G	1: 63,633,678	E522A	probably benign	Het
E130114P18Rik	T	C	4: 97,720,287	D27G	unknown	Het
Egf	A	G	3: 129,711,468	F118S	probably damaging	Het
Eif2d	T	A	1: 131,154,391	F73L	probably damaging	Het
Eps8l1	A	G	7: 4,471,241	E237G	possibly damaging	Het
Espl1	A	G	15: 102,305,730	E664G	probably benign	Het
Fbrsl1	A	T	5: 110,379,029	S373T	possibly damaging	Het
Fras1	T	A	5: 96,636,840	F894Y	probably benign	Het
Gm12800	T	C	4: 101,909,170	V17A	possibly damaging	Het
Gpatch8	T	C	11: 102,481,224	E496G	unknown	Het
Gucy1a2	A	G	9: 3,759,588	K465E	probably damaging	Het
Igdcc4	A	G	9: 65,124,015	T459A	possibly damaging	Het
Itgad	A	T	7: 128,204,625	I64F	probably damaging	Het
Itgb2l	T	A	16: 96,437,449	N50I	probably damaging	Het
Kif13a	A	G	13: 46,809,055	I478T	probably damaging	Het
Krt31	G	A	11: 100,050,157	T109I	probably benign	Het
Ltbr	G	T	6: 125,307,474		probably null	Het
Mindy3	A	T	2: 12,396,213	N231K	probably damaging	Het
Mpnd	T	G	17: 56,012,362		probably benign	Het
Mtus2	C	T	5: 148,077,416	L340F	probably benign	Het
Nanog	G	A	6: 122,707,906	A17T	possibly damaging	Het
Ndufa9	G	T	6: 126,836,320	A181E	probably damaging	Het
Olfr619	T	G	7: 103,604,374	L240R	probably benign	Het
Olfr869	A	T	9: 20,137,562	I149F	probably benign	Het
Pprc1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	19: 46,071,316		probably benign	Het
Prkacb	T	C	3: 146,747,977	I211V	possibly damaging	Het
Ptpn14	C	G	1: 189,851,277	L774V	probably benign	Het
Rad1	T	C	15: 10,492,762		probably benign	Het
Rims1	G	T	1: 22,533,947	P391Q	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Sf3b3	C	T	8: 110,816,329	R832Q	probably benign	Het
Slc12a2	A	G	18: 57,934,963	D975G	possibly damaging	Het
Slitrk6	A	G	14: 110,750,379	L632P	probably damaging	Het
Spire2	A	G	8: 123,368,784	D542G	possibly damaging	Het
Sppl3	A	T	5: 115,082,314	Q95L	probably damaging	Het
Stat5b	C	A	11: 100,784,254	E710*	probably null	Het
Tcl1	G	T	12: 105,222,613	H14N	probably damaging	Het
Ten1	T	C	11: 116,205,729	F70L	probably benign	Het
Tnfrsf13b	A	T	11: 61,140,937	T35S	possibly damaging	Het
Tpcn2	G	A	7: 145,267,309	P336L	probably benign	Het
Trf	C	A	9: 103,228,048	D22Y	probably damaging	Het
Ttyh1	A	G	7: 4,133,944		probably benign	Het
Vmn2r103	A	T	17: 19,811,769	I602F	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zfp352	A	G	4: 90,224,304	Y227C	probably damaging	Het
Zfp599	A	T	9: 22,258,123	W18R	probably damaging	Het

Other mutations in Magel2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Magel2	APN	7	62379322	missense	unknown
IGL01391:Magel2	APN	7	62380884	missense	unknown
IGL01876:Magel2	APN	7	62378827	missense	possibly damaging	0.68
IGL02613:Magel2	APN	7	62380198	missense	unknown
IGL02617:Magel2	APN	7	62380198	missense	unknown
IGL03256:Magel2	APN	7	62380414	missense	unknown
IGL03382:Magel2	APN	7	62378713	missense	probably benign	0.00
astroclast2	UTSW	7	62380159	missense	unknown
IGL02837:Magel2	UTSW	7	62378260	missense	possibly damaging	0.93
R0398:Magel2	UTSW	7	62380551	nonsense	probably null
R0463:Magel2	UTSW	7	62378030	missense	possibly damaging	0.53
R1033:Magel2	UTSW	7	62380050	missense	unknown
R1271:Magel2	UTSW	7	62381014	missense	unknown
R1518:Magel2	UTSW	7	62380440	missense	unknown
R1539:Magel2	UTSW	7	62378809	missense	possibly damaging	0.91
R1682:Magel2	UTSW	7	62380235	missense	unknown
R1686:Magel2	UTSW	7	62378240	missense	possibly damaging	0.53
R1782:Magel2	UTSW	7	62380857	nonsense	probably null
R1785:Magel2	UTSW	7	62377738	missense	unknown
R1786:Magel2	UTSW	7	62377738	missense	unknown
R1950:Magel2	UTSW	7	62378415	missense	possibly damaging	0.48
R2001:Magel2	UTSW	7	62379096	missense	unknown
R2002:Magel2	UTSW	7	62379096	missense	unknown
R2018:Magel2	UTSW	7	62379096	missense	unknown
R2019:Magel2	UTSW	7	62379096	missense	unknown
R2029:Magel2	UTSW	7	62380594	missense	unknown
R2070:Magel2	UTSW	7	62379096	missense	unknown
R2131:Magel2	UTSW	7	62377738	missense	unknown
R2132:Magel2	UTSW	7	62377738	missense	unknown
R2133:Magel2	UTSW	7	62377738	missense	unknown
R2134:Magel2	UTSW	7	62379096	missense	unknown
R2155:Magel2	UTSW	7	62380792	missense	unknown
R4294:Magel2	UTSW	7	62378767	missense	possibly damaging	0.86
R4591:Magel2	UTSW	7	62381089	missense	unknown
R4621:Magel2	UTSW	7	62377738	missense	unknown
R4816:Magel2	UTSW	7	62381092	missense	unknown
R5031:Magel2	UTSW	7	62380104	missense	unknown
R5034:Magel2	UTSW	7	62379868	missense	unknown
R5042:Magel2	UTSW	7	62379606	missense	unknown
R5600:Magel2	UTSW	7	62379766	missense	unknown
R5769:Magel2	UTSW	7	62378113	missense	probably benign	0.02
R5980:Magel2	UTSW	7	62380596	missense	unknown
R5987:Magel2	UTSW	7	62378767	missense	probably benign	0.33
R6187:Magel2	UTSW	7	62377641	missense	unknown
R6267:Magel2	UTSW	7	62378679	missense	probably damaging	0.98
R6270:Magel2	UTSW	7	62380658	nonsense	probably null
R6316:Magel2	UTSW	7	62378719	missense	possibly damaging	0.68
R6444:Magel2	UTSW	7	62379999	missense	unknown
R6452:Magel2	UTSW	7	62380384	missense	unknown
R6797:Magel2	UTSW	7	62380159	missense	unknown
R6917:Magel2	UTSW	7	62377844	small deletion	probably benign
R7011:Magel2	UTSW	7	62378533	missense	possibly damaging	0.92
R7025:Magel2	UTSW	7	62379787	missense	unknown
R7335:Magel2	UTSW	7	62380776	missense	unknown
R7353:Magel2	UTSW	7	62379331	missense	unknown
R7413:Magel2	UTSW	7	62377844	small deletion	probably benign
R7570:Magel2	UTSW	7	62378910	missense	possibly damaging	0.53
R7714:Magel2	UTSW	7	62378382	missense	probably benign	0.08
R7836:Magel2	UTSW	7	62378368	missense	possibly damaging	0.73
R8289:Magel2	UTSW	7	62379127	missense	unknown
RF022:Magel2	UTSW	7	62380093	missense	unknown
Z1088:Magel2	UTSW	7	62378977	missense	possibly damaging	0.53
Z1177:Magel2	UTSW	7	62379607	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTCTCAGACATGGATGGCTTC -3'
(R):5'- GATGAGGCTCAAGACCACCATC -3'

Sequencing Primer
(F):5'- ATGGCTTCTGAGGTCCCAAG -3'
(R):5'- CACCATCAGGAGGCTGAACTTTG -3'

Posted On

2016-04-15