Mutagenetix > Incidental Mutation

Incidental Mutation 'R2891:Miga2'

477027

Institutional Source

Beutler Lab

Gene Symbol

Miga2

Ensembl Gene

ENSMUSG00000026858

Gene Name

mitoguardin 2

Synonyms

Fam73b, R74766, 5730472N09Rik

MMRRC Submission

040479-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2891 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30364233-30385521 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 30378294 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

noncoding transcript
Transcript: ENSMUST00000135841

Predicted Effect

probably null
Transcript: ENSMUST00000140075
AA Change: R402*

SMART Domains

Protein: ENSMUSP00000135519
Gene: ENSMUSG00000026858
AA Change: R402*

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 null
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 null
Transcript: ENSMUST00000176517

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,693,519	Y816H	probably damaging	Het
Clcn6	C	T	4: 148,012,616		probably null	Het
Farp1	C	T	14: 121,256,736	A543V	probably damaging	Het
Hhat	T	C	1: 192,595,086	Y355C	probably damaging	Het
Ireb2	A	T	9: 54,899,990	H612L	probably benign	Het
Kcnj3	A	T	2: 55,447,015	I298F	probably damaging	Het
Kdr	A	G	5: 75,946,836	F1016L	probably damaging	Het
Klf7	T	C	1: 64,042,362	Y269C	probably damaging	Het
Klhl9	T	C	4: 88,720,970	I345V	probably benign	Het
Nadk	A	G	4: 155,587,360	N232S	possibly damaging	Het
Ncoa6	T	A	2: 155,437,961	D45V	possibly damaging	Het
Pcnx2	A	G	8: 125,891,058	S153P	probably damaging	Het
Per2	C	A	1: 91,445,603	Q154H	probably damaging	Het
Pik3ap1	G	A	19: 41,376,061	A73V	probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Rapsn	A	T	2: 91,036,824	D157V	probably damaging	Het
Shprh	T	G	10: 11,164,356	S4R	probably damaging	Het
Taar8a	G	A	10: 24,077,130	V211I	probably benign	Het
Vpreb3	C	T	10: 75,943,222		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
R0620:Miga2	UTSW	2	30381744	unclassified	probably benign
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
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
R9526:Miga2	UTSW	2	30378388	missense	unknown

Predicted Primers

Posted On

2017-05-15