Mutagenetix > Incidental Mutations

Incidental Mutation 'R5019:Miga1'

389082

Institutional Source

Beutler Lab

Gene Symbol

Miga1

Ensembl Gene

ENSMUSG00000054942

Gene Name

mitoguardin 1

Synonyms

C030011O14Rik

MMRRC Submission

042610-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5019 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152273849-152340407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 152322461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 144 (S144A)

Ref Sequence

ENSEMBL: ENSMUSP00000143238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068243] [ENSMUST00000073089] [ENSMUST00000196265] [ENSMUST00000199334]

AlphaFold

Q4QQM5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068243
AA Change: S144A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: S144A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073089
AA Change: S144A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: S144A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196265

SMART Domains

Protein: ENSMUSP00000142667
Gene: ENSMUSG00000054942

Domain	Start	End	E-Value	Type
Pfam:DUF2217	26	146	1.5e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199334
AA Change: S144A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: S144A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199443

Meta Mutation Damage Score

0.4791

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

92% (35/38)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	A	11: 110,165,934	W20L	probably benign	Het
Adamts17	T	A	7: 67,062,070	Y81*	probably null	Het
Add3	A	G	19: 53,242,571	E559G	probably damaging	Het
Ahcyl2	A	T	6: 29,859,739	K6M	possibly damaging	Het
Asb3	A	T	11: 31,081,415	N345I	possibly damaging	Het
Carm1	T	C	9: 21,579,511		probably null	Het
Fam155a	A	G	8: 9,770,240	V260A	probably benign	Het
Gm7257	C	A	9: 36,431,902	Q7K	probably benign	Het
Ip6k2	T	A	9: 108,797,746		probably benign	Het
Kdm4c	T	C	4: 74,343,535	L649P	probably damaging	Het
Klra5	T	C	6: 129,899,389	T152A	probably benign	Het
Mars2	T	C	1: 55,237,309	S24P	possibly damaging	Het
Mfap2	A	T	4: 141,015,258	T142S	probably damaging	Het
Olfr167	A	T	16: 19,515,535	F34I	probably damaging	Het
Olfr462	A	G	11: 87,888,975	V307A	probably benign	Het
Pcdhgb6	A	G	18: 37,742,941	D234G	probably damaging	Het
Pclo	A	G	5: 14,714,367	N4285D	unknown	Het
Pex1	T	C	5: 3,622,331	S725P	probably damaging	Het
Pigg	A	G	5: 108,332,149	Y430C	probably damaging	Het
Plcb2	A	T	2: 118,712,136	L818Q	probably benign	Het
Psmd5	A	G	2: 34,865,953		probably benign	Het
Skint8	T	C	4: 111,928,648	V97A	probably damaging	Het
Tfap2b	T	C	1: 19,226,442	V185A	probably benign	Het
Trim27	T	C	13: 21,189,964	F294L	probably damaging	Het
Trp53bp1	A	T	2: 121,270,319		probably null	Het
Ttc28	T	A	5: 111,102,064	H293Q	possibly damaging	Het
Xkr5	T	C	8: 18,942,110	T88A	probably benign	Het
Xkr6	T	G	14: 63,819,066	I142S	unknown	Het
Zfp618	T	C	4: 63,103,552	Y252H	probably damaging	Het
Zfp790	C	T	7: 29,829,767	H626Y	probably benign	Het
Zfp809	A	G	9: 22,237,702	D84G	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
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
R8418:Miga1	UTSW	3	152285317	missense	probably damaging	1.00
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'- CAGGCAAGTTCTTTGTGCTAAGC -3'
(R):5'- CAGATTTGGCATGGACTTCAGG -3'

Sequencing Primer
(F):5'- AGGTGTGGTCACAGGAAT -3'
(R):5'- TAGCATGCCTGAAACTCTGG -3'

Posted On

2016-06-06