Mutagenetix > Incidental Mutations

Incidental Mutation 'R8418:Miga1'

653026

Institutional Source

Beutler Lab

Gene Symbol

Miga1

Ensembl Gene

ENSMUSG00000054942

Gene Name

mitoguardin 1

Synonyms

C030011O14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152273849-152340407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 152285317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 433 (Y433S)

Ref Sequence

ENSEMBL: ENSMUSP00000072836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068243] [ENSMUST00000073089] [ENSMUST00000199334]

AlphaFold

Q4QQM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000068243
AA Change: Y369S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: Y369S

Domain	Start	End	E-Value	Type
Pfam:DUF2217	26	306	6.3e-74	PFAM
Pfam:DUF2217	298	507	2.8e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000073089
AA Change: Y433S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: Y433S

Domain	Start	End	E-Value	Type
Pfam:DUF2217	27	571	4.8e-245	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000199334
AA Change: Y433S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: Y433S

Domain	Start	End	E-Value	Type
Pfam:DUF2217	26	496	1.2e-179	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	T	C	17: 42,710,586	H449R	probably benign	Het
Arfgef2	T	C	2: 166,856,548	V646A	probably benign	Het
BC005561	C	A	5: 104,519,858	Q749K	possibly damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Ccdc155	A	G	7: 45,194,077	L241P	probably damaging	Het
Ccdc62	C	T	5: 123,946,392	R279*	probably null	Het
Col6a5	G	T	9: 105,878,622	P2201Q	probably damaging	Het
Cpa3	T	C	3: 20,222,151	Y306C	probably damaging	Het
Cpne9	A	G	6: 113,283,437	N82D	possibly damaging	Het
Dcaf17	T	A	2: 71,088,373	D430E	probably damaging	Het
Dcst2	T	C	3: 89,371,594	V546A	probably benign	Het
Dennd1a	T	C	2: 37,858,391	T359A	probably benign	Het
Dgkb	C	A	12: 38,330,017	H591N	probably damaging	Het
Dnah17	G	A	11: 118,103,458	S1047F	probably benign	Het
Dock2	A	G	11: 34,718,968	I215T	probably benign	Het
Efcab12	A	G	6: 115,822,115		probably null	Het
Erich3	C	T	3: 154,709,741	R165C		Het
Fam166b	A	G	4: 43,427,204	L76P	unknown	Het
Gabrr1	C	T	4: 33,162,615	R394*	probably null	Het
Garnl3	G	T	2: 33,052,146	Q153K	possibly damaging	Het
Gars	A	G	6: 55,065,461	N393S	probably damaging	Het
Gbp2b	A	T	3: 142,603,705	E192D	probably benign	Het
Gm28360	A	T	1: 117,853,627	H116L	probably benign	Het
Gm9602	T	A	14: 4,779,201		probably benign	Het
Gp1bb	T	A	16: 18,621,353	H5L	unknown	Het
Grik3	A	G	4: 125,686,042	K527E	possibly damaging	Het
Hhip	T	C	8: 80,045,085	M199V	probably damaging	Het
Irgm1	A	G	11: 48,866,339	V231A	probably damaging	Het
Itgal	A	T	7: 127,330,282	I1124F	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Muc16	A	T	9: 18,519,630	I8062K	possibly damaging	Het
Ntsr2	T	G	12: 16,656,661	V230G	possibly damaging	Het
Olfr597	A	G	7: 103,321,071	Y220C		Het
Ptpn2	G	A	18: 67,681,522	T139M	probably damaging	Het
Pum2	T	A	12: 8,710,245	D145E	possibly damaging	Het
Radil	T	C	5: 142,494,921	E593G	probably benign	Het
Rdh14	T	C	12: 10,394,580	F144L	probably damaging	Het
Sec23ip	T	G	7: 128,778,463	D867E	probably damaging	Het
Serpina6	T	C	12: 103,646,928	Y371C	probably damaging	Het
Snx13	T	A	12: 35,098,234	I254N	probably damaging	Het
Tacc1	T	C	8: 25,241,516	K7E	probably damaging	Het
Timeless	A	C	10: 128,250,736	N1048T	probably benign	Het
Tll2	C	A	19: 41,092,837	E732D	probably damaging	Het
Tmem171	A	G	13: 98,692,232	S137P	probably damaging	Het
Ttll3	A	T	6: 113,394,773	M44L	probably benign	Het
Vmn2r29	T	A	7: 7,241,940	I312L	probably benign	Het
Vmn2r43	A	T	7: 8,255,584	L210*	probably null	Het
Vmn2r60	A	G	7: 42,195,426	I738V	probably damaging	Het
Zfp977	T	A	7: 42,579,986	M372L	probably benign	Het

Other mutations in Miga1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Miga1	APN	3	152276690	missense	probably benign	0.18
IGL01461:Miga1	APN	3	152335297	missense	probably damaging	1.00
IGL02962:Miga1	APN	3	152285341	splice site	probably benign
R0165:Miga1	UTSW	3	152290843	missense	probably damaging	0.99
R0945:Miga1	UTSW	3	152317663	missense	possibly damaging	0.85
R1527:Miga1	UTSW	3	152317663	missense	possibly damaging	0.85
R1769:Miga1	UTSW	3	152287554	missense	probably damaging	1.00
R1978:Miga1	UTSW	3	152335304	frame shift	probably null
R3697:Miga1	UTSW	3	152322436	missense	probably damaging	0.99
R4649:Miga1	UTSW	3	152279005	missense	probably benign	0.28
R4660:Miga1	UTSW	3	152287518	missense	probably damaging	1.00
R4679:Miga1	UTSW	3	152322475	missense	probably damaging	1.00
R4815:Miga1	UTSW	3	152290806	missense	probably benign	0.00
R5019:Miga1	UTSW	3	152322461	missense	possibly damaging	0.86
R5488:Miga1	UTSW	3	152333446	small deletion	probably benign
R6107:Miga1	UTSW	3	152335399	missense	probably benign	0.03
R6227:Miga1	UTSW	3	152278949	missense	probably benign	0.09
R6292:Miga1	UTSW	3	152317719	missense	probably benign	0.30
R6438:Miga1	UTSW	3	152322403	missense	probably damaging	1.00
R6444:Miga1	UTSW	3	152283831	missense	probably damaging	1.00
R6489:Miga1	UTSW	3	152279008	missense	probably damaging	0.99
R6564:Miga1	UTSW	3	152285322	missense	probably damaging	1.00
R7354:Miga1	UTSW	3	152290500	missense	probably damaging	1.00
R7440:Miga1	UTSW	3	152338046	critical splice acceptor site	probably null
R7638:Miga1	UTSW	3	152276687	missense	probably benign	0.00
R8039:Miga1	UTSW	3	152276756	missense	probably benign	0.15
R8154:Miga1	UTSW	3	152320700	unclassified	probably benign
R8423:Miga1	UTSW	3	152322408	missense	probably benign	0.00
R8486:Miga1	UTSW	3	152276753	missense	probably damaging	1.00
R8825:Miga1	UTSW	3	152276823	missense	probably damaging	1.00
R8893:Miga1	UTSW	3	152276657	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGATCCCAATGACAAGG -3'
(R):5'- ACTCAGAGCCTAGCATTGCAC -3'

Sequencing Primer
(F):5'- TGGCCTTGGACTCACAGAGATC -3'
(R):5'- CCTAGCATTGCACAGCGC -3'

Posted On

2020-10-20