Mutagenetix > Incidental Mutations

Incidental Mutation 'R8370:Miga2'

646329

Institutional Source

Beutler Lab

Gene Symbol

Miga2

Ensembl Gene

ENSMUSG00000026858

Gene Name

mitoguardin 2

Synonyms

Fam73b, R74766, 5730472N09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8370 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

30364233-30385521 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

AAGAG to AAG at 30375743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000077127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077977] [ENSMUST00000100214] [ENSMUST00000116543] [ENSMUST00000140075]

AlphaFold

Q8BK03

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000100214

SMART Domains

Protein: ENSMUSP00000097787
Gene: ENSMUSG00000026858

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

Predicted Effect

probably benign
Transcript: ENSMUST00000116543

SMART Domains

Protein: ENSMUSP00000135126
Gene: ENSMUSG00000026858

Domain	Start	End	E-Value	Type
Pfam:DUF2217	1	91	3.6e-21	PFAM

Predicted Effect

probably null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,743,952	D18G	probably benign	Het
4921530L21Rik	T	C	14: 95,882,494	L229P	probably damaging	Het
Adamts5	A	G	16: 85,899,993	V92A	possibly damaging	Het
Armc2	T	A	10: 41,923,837	N675I	possibly damaging	Het
Cav1	A	G	6: 17,339,294	H126R	possibly damaging	Het
Clca4b	A	G	3: 144,926,063	F227S	probably damaging	Het
Clec4a4	G	A	6: 122,991,799	G41D	probably damaging	Het
Commd1	A	T	11: 22,982,104	L51Q	probably damaging	Het
Dhx57	A	T	17: 80,245,763	V1245D	probably damaging	Het
Ephb2	A	G	4: 136,655,991	I925T	possibly damaging	Het
Eprs	T	A	1: 185,399,257	I700K	probably damaging	Het
Fry	C	A	5: 150,395,819	T983K	probably damaging	Het
Gm14325	T	C	2: 177,832,592	I232M	probably benign	Het
Golgb1	A	G	16: 36,912,317	H683R	probably benign	Het
Kcnq5	G	A	1: 21,479,424	R360C	probably damaging	Het
Kif9	C	T	9: 110,488,613	R113C	probably damaging	Het
Klhl33	C	T	14: 50,892,232	R312Q	probably damaging	Het
Lama5	T	C	2: 180,201,487	E489G	possibly damaging	Het
Lhb	A	G	7: 45,421,642	D97G	probably damaging	Het
Lrp1b	T	C	2: 40,998,105	D2381G		Het
Mmp17	A	G	5: 129,605,578	D427G	probably damaging	Het
Mrps18b	T	C	17: 35,912,362	I131V	probably benign	Het
Nav1	T	A	1: 135,471,144	K567*	probably null	Het
Ncam1	T	A	9: 49,557,131	R343*	probably null	Het
Nfrkb	T	A	9: 31,405,579	N591K	probably damaging	Het
Numb	A	T	12: 83,808,200	C117*	probably null	Het
Olfr1487	T	A	19: 13,619,297	I2N	probably damaging	Het
Olfr522	A	T	7: 140,162,768	Y61N	probably damaging	Het
Pfpl	A	T	19: 12,429,911	N509Y	probably damaging	Het
Prss58	C	A	6: 40,895,424	G222C	probably damaging	Het
Ptx4	C	A	17: 25,123,340	P263Q	possibly damaging	Het
Ribc2	T	G	15: 85,143,288	H323Q	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,579,929		probably benign	Het
Smchd1	G	A	17: 71,394,913	T1028M	probably benign	Het
Srebf1	T	C	11: 60,202,196	I806V	probably benign	Het
Trim14	A	T	4: 46,523,711	L109Q	probably damaging	Het
Wdfy4	A	T	14: 33,093,251	H1602Q		Het
Zbtb48	A	G	4: 152,021,287		probably null	Het
Zranb3	T	C	1: 127,967,933	E726G	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
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
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'- AGTTCTTTTGGACCCAGAGC -3'
(R):5'- CGAGCCTCATCTTGCTTCAG -3'

Sequencing Primer
(F):5'- AGAGCTGGCTCCATTTCCTCAG -3'
(R):5'- CTGTCTGCCATTTTAAGGGAATACC -3'

Posted On

2020-09-02