Mutagenetix > Incidental Mutation

Incidental Mutation 'R2892:Miga2'

477029

Institutional Source

Beutler Lab

Gene Symbol

Miga2

Ensembl Gene

ENSMUSG00000026858

Gene Name

mitoguardin 2

Synonyms

Fam73b, R74766, 5730472N09Rik

MMRRC Submission

040480-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2892 (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: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,594,317	D232G	probably damaging	Het
Ank2	T	C	3: 127,248,243		probably null	Het
Atp6v0a4	T	C	6: 38,053,017	E704G	probably benign	Het
Bbx	A	G	16: 50,224,741	Y378H	probably damaging	Het
Carmil3	T	C	14: 55,498,313	V574A	probably damaging	Het
Cpz	A	G	5: 35,511,129	V379A	probably damaging	Het
Cyp4f15	A	G	17: 32,686,208	D55G	probably benign	Het
Dcun1d2	A	T	8: 13,278,649	I86N	probably damaging	Het
Defa30	A	T	8: 21,134,663	M1L	probably damaging	Het
Fzd8	G	T	18: 9,214,514	G532V	probably damaging	Het
Gcfc2	T	C	6: 81,956,913	F717S	possibly damaging	Het
Gckr	T	C	5: 31,326,472	V563A	probably benign	Het
Ighv1-24	T	G	12: 114,773,059	K74Q	probably benign	Het
Kcnj3	A	T	2: 55,447,015	I298F	probably damaging	Het
Mmrn2	T	G	14: 34,396,630	F158V	probably benign	Het
Mug1	G	A	6: 121,840,070	V33M	possibly damaging	Het
Myom1	T	C	17: 71,034,653	S136P	probably damaging	Het
Nadk	A	G	4: 155,587,360	N232S	possibly damaging	Het
Olfr815	A	G	10: 129,901,940	Y257H	possibly damaging	Het
Olfr845	A	G	9: 19,338,738	T93A	probably benign	Het
Pcnx2	A	G	8: 125,891,058	S153P	probably damaging	Het
Pde8b	T	C	13: 95,034,259	D633G	probably damaging	Het
Pik3ap1	G	A	19: 41,376,061	A73V	probably benign	Het
Plrg1	C	A	3: 83,071,240	Q438K	probably damaging	Het
Plxna4	A	G	6: 32,517,037	Y215H	probably damaging	Het
Rapsn	A	T	2: 91,036,824	D157V	probably damaging	Het
Rock1	G	A	18: 10,072,863	Q1161*	probably null	Het
Snrnp200	T	C	2: 127,231,777	L1365P	probably damaging	Het
Srcap	T	C	7: 127,539,065	S1136P	probably damaging	Het
Trim80	A	G	11: 115,448,023	T560A	possibly damaging	Het
Ttll2	T	C	17: 7,352,699		probably null	Het
Usp8	A	T	2: 126,758,155	Q998L	probably damaging	Het
Vpreb3	C	T	10: 75,943,222		probably benign	Het
Zfp82	G	A	7: 30,056,439	T406I	probably damaging	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
R2891: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