Mutagenetix > Incidental Mutation

Incidental Mutation 'R3116:Magoh'

264009

Institutional Source

Beutler Lab

Gene Symbol

Magoh

Ensembl Gene

ENSMUSG00000028609

Gene Name

mago homolog, exon junction complex core component

Synonyms

Mago-m, Mos2

MMRRC Submission

040589-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3116 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107736952-107744621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107744409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 126 (V126A)

Ref Sequence

ENSEMBL: ENSMUSP00000030348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030348] [ENSMUST00000106726] [ENSMUST00000106727] [ENSMUST00000119394] [ENSMUST00000120473] [ENSMUST00000135454] [ENSMUST00000125107] [ENSMUST00000132417] [ENSMUST00000128474]

AlphaFold

P61327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000030346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000030347

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030348
AA Change: V126A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030348
Gene: ENSMUSG00000028609
AA Change: V126A

Domain	Start	End	E-Value	Type
Pfam:Mago_nashi	5	146	7.5e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106726

SMART Domains

Protein: ENSMUSP00000102337
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	114	1.9e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106727

SMART Domains

Protein: ENSMUSP00000102338
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	154	1.2e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119394

SMART Domains

Protein: ENSMUSP00000113991
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	146	8.1e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120473

SMART Domains

Protein: ENSMUSP00000113866
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	138	2.7e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153593

Predicted Effect

probably benign
Transcript: ENSMUST00000135454

SMART Domains

Protein: ENSMUSP00000114234
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	160	1.7e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125107

SMART Domains

Protein: ENSMUSP00000119565
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	40	194	2.2e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132417

SMART Domains

Protein: ENSMUSP00000117717
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	37	98	1.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128474

SMART Domains

Protein: ENSMUSP00000115797
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	2	66	4.2e-27	PFAM

Meta Mutation Damage Score

0.7939

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation in this gene is embryonic lethal and heterozygous mice are postnatal lethal with incomplete penetrance with reduced body size and microcephaly. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,946,610 (GRCm39)	I37F	possibly damaging	Het
Aoc1l3	A	G	6: 48,964,331 (GRCm39)	Y113C	probably damaging	Het
Ccdc146	T	C	5: 21,521,953 (GRCm39)	N357S	probably benign	Het
Csmd3	A	G	15: 47,520,995 (GRCm39)	F2783S	probably damaging	Het
Desi2	T	A	1: 178,072,008 (GRCm39)	M104K	probably damaging	Het
Disp1	C	T	1: 182,870,486 (GRCm39)	V645I	probably benign	Het
Dock8	A	T	19: 25,165,858 (GRCm39)	H1914L	probably benign	Het
Fdft1	T	C	14: 63,415,147 (GRCm39)	I28M	probably benign	Het
Ffar3	T	C	7: 30,555,231 (GRCm39)	M30V	probably benign	Het
Grm3	A	T	5: 9,620,752 (GRCm39)	F164Y	probably damaging	Het
Ints5	T	C	19: 8,872,136 (GRCm39)	S32P	possibly damaging	Het
Itgam	T	A	7: 127,715,201 (GRCm39)	S908R	probably damaging	Het
Kif20b	C	T	19: 34,947,480 (GRCm39)	P1565L	probably benign	Het
Kntc1	A	G	5: 123,940,121 (GRCm39)	E1610G	probably damaging	Het
Krt24	T	A	11: 99,173,262 (GRCm39)	T298S	possibly damaging	Het
Marchf6	G	A	15: 31,486,265 (GRCm39)	S362F	probably benign	Het
Meak7	G	A	8: 120,495,056 (GRCm39)	A234V	probably benign	Het
Mier3	T	A	13: 111,843,182 (GRCm39)	I178N	probably damaging	Het
Moxd1	G	T	10: 24,177,429 (GRCm39)	E582*	probably null	Het
Ncor2	A	T	5: 125,101,230 (GRCm39)	L2195Q	probably damaging	Het
Neil1	A	T	9: 57,053,947 (GRCm39)	D124E	probably benign	Het
Nhsl1	A	T	10: 18,400,916 (GRCm39)	Q714L	probably damaging	Het
Nipbl	T	A	15: 8,373,076 (GRCm39)	M1057L	probably benign	Het
Npas3	G	A	12: 54,114,508 (GRCm39)		probably null	Het
Oas1h	C	T	5: 120,999,679 (GRCm39)	Q55*	probably null	Het
Or2a5	T	C	6: 42,873,784 (GRCm39)	V133A	probably benign	Het
Or2ag2b	T	A	7: 106,417,571 (GRCm39)	F94I	probably damaging	Het
Or52h9	C	A	7: 104,202,295 (GRCm39)	H56Q	probably benign	Het
Or5p61	T	C	7: 107,759,029 (GRCm39)	E17G	probably benign	Het
Or7d9	A	T	9: 20,197,523 (GRCm39)	H176L	probably benign	Het
Phactr2	C	A	10: 13,137,645 (GRCm39)	E166*	probably null	Het
Prkdc	C	T	16: 15,482,222 (GRCm39)	L422F	probably benign	Het
Pum1	T	C	4: 130,499,971 (GRCm39)	V1051A	probably damaging	Het
Pxdn	T	C	12: 30,052,306 (GRCm39)	S828P	possibly damaging	Het
Rad21	T	A	15: 51,828,397 (GRCm39)	E557V	probably null	Het
Rtn3	T	G	19: 7,409,355 (GRCm39)	N888H	probably damaging	Het
Slc12a5	T	A	2: 164,838,101 (GRCm39)		probably null	Het
Slc7a11	T	A	3: 50,338,588 (GRCm39)	M274L	probably benign	Het
Tacc2	A	G	7: 130,360,979 (GRCm39)	N825S	probably damaging	Het
Tln2	T	A	9: 67,262,421 (GRCm39)	D610V	probably benign	Het
Tmed11	C	T	5: 108,927,705 (GRCm39)	V110M	probably damaging	Het
Tmem92	T	C	11: 94,673,254 (GRCm39)	D3G	possibly damaging	Het
Trp53rkb	C	T	2: 166,636,009 (GRCm39)		probably benign	Het
Wdr91	A	G	6: 34,882,522 (GRCm39)	L209P	probably damaging	Het
Zfp511	T	A	7: 139,616,504 (GRCm39)	D46E	probably benign	Het
Zfp804a	C	A	2: 82,089,761 (GRCm39)	Q1197K	probably damaging	Het

Other mutations in Magoh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Magoh	APN	4	107,742,203 (GRCm39)	unclassified	probably benign
IGL01777:Magoh	APN	4	107,740,373 (GRCm39)	missense	probably benign	0.01
R0508:Magoh	UTSW	4	107,742,195 (GRCm39)	missense	possibly damaging	0.79
R1164:Magoh	UTSW	4	107,744,459 (GRCm39)	missense	probably benign	0.37
R1694:Magoh	UTSW	4	107,740,362 (GRCm39)	missense	probably benign	0.09
R7609:Magoh	UTSW	4	107,744,409 (GRCm39)	missense	possibly damaging	0.94
R8233:Magoh	UTSW	4	107,738,132 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ATGGACATGTGCTTCCTCAGG -3'
(R):5'- GACTGAGAATTCACATATTCAGGTG -3'

Sequencing Primer
(F):5'- ACATGTGCTTCCTCAGGGTTTATTAC -3'
(R):5'- TGGTAACTAAAAACTCCCAC -3'

Posted On

2015-02-05