Mutagenetix > Incidental Mutation

Incidental Mutation 'R7413:Magel2'

575216

Institutional Source

Beutler Lab

Gene Symbol

Magel2

Ensembl Gene

ENSMUSG00000056972

Gene Name

melanoma antigen, family L, 2

Synonyms

nM15, ns7, NDNL1, Mage-l2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7413 (G1)

Quality Score

129.467

Status

Not validated

Chromosome

Chromosomal Location

62377010-62381640 bp(+) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

CCCTCCTCCTCCTCCTCCTCCT to CCCTCCTCCTCCTCCTCCT at 62377844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000079265 (fasta)

Gene Model

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

AlphaFold

Q9QZ04

Predicted Effect

probably benign
Transcript: ENSMUST00000080403

SMART Domains

Protein: ENSMUSP00000079265
Gene: ENSMUSG00000056972

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,918,124		probably null	Het
Agbl4	A	T	4: 111,657,298	D502V	probably benign	Het
Akap5	T	A	12: 76,328,904	V370E	possibly damaging	Het
Alms1	T	C	6: 85,628,306	C1844R	probably benign	Het
Apaf1	T	C	10: 90,995,680	K1191E	probably benign	Het
Bsn	C	T	9: 108,139,491	R107Q	possibly damaging	Het
Catsperb	G	T	12: 101,481,048	R269L	probably damaging	Het
Ccer1	T	C	10: 97,693,942	S156P	unknown	Het
Cdh16	C	T	8: 104,619,940	A241T	probably benign	Het
Cdk5rap2	A	G	4: 70,254,735	S1367P	probably damaging	Het
Cds2	C	T	2: 132,293,315	P42L	probably benign	Het
Col15a1	T	C	4: 47,245,431	Y61H	possibly damaging	Het
Dclre1a	G	A	19: 56,542,650	P755S	probably damaging	Het
Ddi1	A	T	9: 6,265,670	M233K	probably damaging	Het
Dpp4	T	C	2: 62,356,989	Y474C	probably damaging	Het
Epha7	T	A	4: 28,871,838	M389K	probably benign	Het
Ephb3	T	C	16: 21,214,707	F181S	probably damaging	Het
Epor	G	A	9: 21,963,480		probably benign	Het
Fam205c	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823		probably benign	Het
Fbp2	C	A	13: 62,837,253	V285L	probably benign	Het
Flnc	A	T	6: 29,452,259	D1694V	probably damaging	Het
Ganab	T	A	19: 8,904,975	M98K	probably benign	Het
Gcm2	A	G	13: 41,105,754	S80P	probably damaging	Het
Gls	A	G	1: 52,215,576	S247P	probably benign	Het
Gm14124	A	C	2: 150,266,161	T14P	possibly damaging	Het
Gm16286	T	C	18: 80,211,659	V56A	possibly damaging	Het
Gne	T	C	4: 44,044,857	N426D	probably benign	Het
Ifne	A	T	4: 88,879,603	*193R	probably null	Het
Igf2r	G	T	17: 12,698,228	S1595*	probably null	Het
Krt26	C	T	11: 99,335,061	M226I	probably benign	Het
Lars2	G	A	9: 123,459,503	V805I	probably benign	Het
Lrrc57	C	A	2: 120,606,096	R177L	probably damaging	Het
Lrrn1	A	G	6: 107,569,122	E627G	probably benign	Het
Mdga1	A	T	17: 29,850,673	V133E	probably damaging	Het
Med12l	A	G	3: 59,091,550	T644A	probably benign	Het
Meis1	T	A	11: 18,988,357	D218V	probably damaging	Het
Myo15b	A	G	11: 115,878,144	E1439G		Het
Nckipsd	G	A	9: 108,814,081	V401I	probably benign	Het
Nrg3	T	C	14: 38,370,712	I655V	probably damaging	Het
Olfr1290	A	C	2: 111,489,588	I190R	probably benign	Het
Olfr470	T	C	7: 107,845,514	D73G	probably damaging	Het
Olfr665	A	T	7: 104,880,850	I48F	probably benign	Het
Oprm1	A	T	10: 6,828,919	I107F	probably damaging	Het
Osbpl7	T	C	11: 97,054,878		probably null	Het
Pcdh18	T	G	3: 49,744,783	S1077R	possibly damaging	Het
Pcdhb16	A	T	18: 37,478,922	K312*	probably null	Het
Plekhh2	A	T	17: 84,566,296	E336D	probably benign	Het
Ptprd	A	T	4: 76,246,839	S49T	probably benign	Het
Pxdn	A	G	12: 30,002,928	I1035V	probably benign	Het
Rlf	C	T	4: 121,150,100	G671D	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,921		probably benign	Het
Selenbp2	A	G	3: 94,700,097	Q275R	probably benign	Het
Slc10a1	G	T	12: 80,960,622	F128L	probably benign	Het
Slitrk1	A	T	14: 108,911,925	Y451*	probably null	Het
Stambpl1	G	C	19: 34,226,716	G69R	probably damaging	Het
Surf4	G	T	2: 26,924,443	R149S	probably benign	Het
Tmem151a	T	C	19: 5,082,674	Y168C	probably damaging	Het
Ttc39c	A	G	18: 12,728,689	K416R	possibly damaging	Het
Vit	T	C	17: 78,624,880	I472T	probably damaging	Het
Vmn1r212	A	C	13: 22,883,548	L205R	probably damaging	Het
Wscd2	T	C	5: 113,577,341	I414T	probably benign	Het
Zcchc11	T	C	4: 108,549,336	I1367T	possibly 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
R4931:Magel2	UTSW	7	62380624	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
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
R8717:Magel2	UTSW	7	62377672	missense	unknown
R8903:Magel2	UTSW	7	62379693	missense	unknown
R8911:Magel2	UTSW	7	62379789	missense	unknown
R8971:Magel2	UTSW	7	62380251	missense	unknown
R9096:Magel2	UTSW	7	62380549	missense	unknown
R9264:Magel2	UTSW	7	62378596	missense	possibly damaging	0.95
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'- ACTCCTGGAGTCTTGATGGTCC -3'
(R):5'- TAATCGAAGGTGCAGGCTG -3'

Sequencing Primer
(F):5'- TGATGGTCCATCAGCCCC -3'
(R):5'- AACATGCGGCATTGGAGTTCC -3'

Posted On

2019-10-07