Mutagenetix > Incidental Mutations

Incidental Mutation 'R0620:Miga2'

58576

Institutional Source

Beutler Lab

Gene Symbol

Miga2

Ensembl Gene

ENSMUSG00000026858

Gene Name

mitoguardin 2

Synonyms

Fam73b, R74766, 5730472N09Rik

MMRRC Submission

038809-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0620 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

30364233-30385521 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 30381744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077977] [ENSMUST00000100214] [ENSMUST00000140075] [ENSMUST00000175864]

AlphaFold

Q8BK03

Predicted Effect

probably benign
Transcript: ENSMUST00000077977

SMART Domains

Protein: ENSMUSP00000077127
Gene: ENSMUSG00000026858

Domain	Start	End	E-Value	Type
Pfam:DUF2217	30	568	5.6e-242	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100214

SMART Domains

Protein: ENSMUSP00000097787
Gene: ENSMUSG00000026858

Domain	Start	End	E-Value	Type
Pfam:DUF2217	31	568	6.9e-228	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125610

Predicted Effect

probably benign
Transcript: ENSMUST00000140075

SMART Domains

Protein: ENSMUSP00000135519
Gene: ENSMUSG00000026858

Domain	Start	End	E-Value	Type
Pfam:DUF2217	30	393	5.1e-125	PFAM
low complexity region	409	420	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175864

SMART Domains

Protein: ENSMUSP00000135812
Gene: ENSMUSG00000026858

Domain	Start	End	E-Value	Type
Pfam:DUF2217	1	73	1.5e-46	PFAM
Pfam:DUF2217	70	114	7.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176517

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,328,375	Q973L	probably damaging	Het
Adamts9	T	C	6: 92,858,113	T679A	possibly damaging	Het
Ahr	T	C	12: 35,508,194	T276A	probably benign	Het
Akap9	A	T	5: 4,064,136	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,432,689	F7I	probably benign	Het
B3galt2	A	G	1: 143,646,140	R5G	probably damaging	Het
Bod1l	T	C	5: 41,801,233	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,396	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,957,717		probably null	Het
Cst7	T	A	2: 150,575,886		probably benign	Het
Defb30	A	T	14: 63,049,763		probably benign	Het
Dido1	C	T	2: 180,659,851	G2087S	probably benign	Het
Dio2	A	G	12: 90,738,071	Y72H	probably benign	Het
Dnah11	C	T	12: 117,987,469	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,503,249	K287E	possibly damaging	Het
Dnajc11	G	A	4: 151,973,628	V244I	possibly damaging	Het
Ect2	C	T	3: 27,139,652	A226T	probably damaging	Het
Ercc8	G	A	13: 108,174,061		probably null	Het
Fam120b	T	A	17: 15,402,927	M389K	probably benign	Het
Fam151a	A	G	4: 106,747,931	M497V	probably benign	Het
Fam186b	C	A	15: 99,280,128	G439V	probably benign	Het
Fank1	A	G	7: 133,876,765	Y185C	probably damaging	Het
Gart	T	C	16: 91,630,602		probably benign	Het
Glb1l	T	C	1: 75,199,720	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,658,437	A164T	unknown	Het
Gnb4	C	T	3: 32,591,207	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,859,693	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,137,960	T144M	probably damaging	Het
Haus6	A	T	4: 86,583,514	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,594,016	T4971S	probably benign	Het
Ints6	A	T	14: 62,696,759	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330	M650K	probably damaging	Het
Kif21b	T	C	1: 136,159,428	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,614,635	Q176H	possibly damaging	Het
Ky	T	C	9: 102,537,621	V244A	probably benign	Het
Mia2	T	A	12: 59,154,419	L191M	possibly damaging	Het
Mtss1l	C	T	8: 110,737,948	P322S	probably damaging	Het
Nalcn	A	G	14: 123,299,141		probably benign	Het
Ncbp3	T	A	11: 73,049,845		probably benign	Het
Nprl3	G	A	11: 32,234,876	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,846,821	M184L	probably benign	Het
Olfr311	T	G	11: 58,841,443	C110G	probably damaging	Het
Olfr738	G	T	14: 50,413,697	C51F	probably benign	Het
Osbpl9	T	C	4: 109,083,128	E287G	probably damaging	Het
Parva	T	C	7: 112,576,411	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,421,811	Q65*	probably null	Het
Phtf1	A	G	3: 103,993,765	T377A	probably damaging	Het
Pkp4	G	A	2: 59,322,643	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,287,654	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092		probably benign	Het
Pole2	A	C	12: 69,209,879	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,018	F586L	probably benign	Het
Prrx1	G	A	1: 163,257,816	R182C	probably damaging	Het
Ptprs	A	G	17: 56,429,103	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 91,919,817		probably benign	Het
Riox2	T	C	16: 59,491,892	V464A	probably benign	Het
Robo2	A	G	16: 73,967,802	V646A	possibly damaging	Het
Ros1	T	A	10: 52,118,348	I1279F	probably damaging	Het
Siglec1	G	A	2: 131,074,268	T1254M	probably benign	Het
Snx7	T	C	3: 117,846,675	N62D	probably damaging	Het
Sp100	G	A	1: 85,659,867		probably null	Het
Stil	A	T	4: 115,007,159	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,209,038	D170V	probably benign	Het
Tmem2	T	A	19: 21,817,971	S743T	probably benign	Het
Trappc13	G	A	13: 104,161,081	T105M	probably damaging	Het
Trhr	T	A	15: 44,229,500	S378T	probably benign	Het
Ttc7b	T	C	12: 100,500,073		probably null	Het
Vegfc	A	T	8: 54,157,139	Y110F	probably benign	Het
Vmn1r184	C	A	7: 26,267,177	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,503,814	C444*	probably null	Het
Zfp341	A	G	2: 154,634,273	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,616,444	V41E	probably benign	Het

Other mutations in Miga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Miga2	APN	2	30367717	missense	probably benign	0.04
IGL01353:Miga2	APN	2	30371233	critical splice donor site	probably null
IGL01679:Miga2	APN	2	30378250	missense	probably benign	0.07
IGL03113:Miga2	APN	2	30384010	missense	possibly damaging	0.96
uncertain	UTSW	2	30371196	missense	probably benign	0.00
R1698:Miga2	UTSW	2	30377997	missense	probably damaging	1.00
R1729:Miga2	UTSW	2	30368968	missense	probably damaging	1.00
R1994:Miga2	UTSW	2	30381988	missense	probably damaging	1.00
R2377:Miga2	UTSW	2	30383990	nonsense	probably null
R2891:Miga2	UTSW	2	30378294	splice site	probably null
R2892:Miga2	UTSW	2	30378294	splice site	probably null
R2893:Miga2	UTSW	2	30378294	splice site	probably null
R3788:Miga2	UTSW	2	30371225	nonsense	probably null
R4042:Miga2	UTSW	2	30367726	missense	possibly damaging	0.87
R5214:Miga2	UTSW	2	30371196	missense	probably benign	0.00
R5750:Miga2	UTSW	2	30371565	missense	probably damaging	1.00
R5928:Miga2	UTSW	2	30368863	splice site	probably benign
R6134:Miga2	UTSW	2	30371217	missense	probably benign	0.00
R6209:Miga2	UTSW	2	30381662	missense	probably damaging	1.00
R6860:Miga2	UTSW	2	30371163	missense	probably benign	0.15
R7373:Miga2	UTSW	2	30382071	missense	probably damaging	1.00
R7884:Miga2	UTSW	2	30371204	missense	probably benign	0.02
R8370:Miga2	UTSW	2	30375743	frame shift	probably null
R8371:Miga2	UTSW	2	30375743	frame shift	probably null
R8374:Miga2	UTSW	2	30375743	frame shift	probably null
R8847:Miga2	UTSW	2	30383978	missense	probably damaging	0.99
R9060:Miga2	UTSW	2	30381723	missense	probably damaging	1.00
R9253:Miga2	UTSW	2	30371227	missense	probably benign	0.18
R9286:Miga2	UTSW	2	30383597	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- ACAACCCAGCCTGCTTGTGAATC -3'
(R):5'- GGCATCCATGAGGATGAAGTCCAG -3'

Sequencing Primer
(F):5'- ATCTTATCCAACTGGGTCACAGG -3'
(R):5'- AGGGGCATCTAGAGCTACC -3'

Posted On

2013-07-11