Mutagenetix > Incidental Mutations

Incidental Mutation 'R8893:Miga1'

677813

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 #

R8893 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152273849-152340407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152276657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 594 (L594P)

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: L530P

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

SMART Domains

Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: L530P

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: L594P

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

SMART Domains

Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: L594P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199334

SMART Domains

Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942

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

Meta Mutation Damage Score

0.3104

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,224,511	D749G	probably benign	Het
Ank1	T	A	8: 23,108,225	I782N	probably damaging	Het
Arap2	T	A	5: 62,730,694	Q436H	probably damaging	Het
Baz2b	A	C	2: 59,924,805	F269L	probably damaging	Het
BC052040	T	A	2: 115,674,784	S179T	probably benign	Het
Bivm	C	T	1: 44,119,279		probably benign	Het
Brsk1	A	T	7: 4,708,090	D603V	probably damaging	Het
C2cd3	C	T	7: 100,454,797	P2006S	probably benign	Het
Cacna1a	T	C	8: 84,587,135	F1513L	probably benign	Het
Cep128	C	T	12: 91,296,232	E298K	probably damaging	Het
Cfap74	A	G	4: 155,446,695	T802A	unknown	Het
Cnbd2	G	A	2: 156,312,540	R3Q	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,500,849		probably benign	Het
Defa28	C	T	8: 21,583,824	T81I		Het
Dync1h1	A	G	12: 110,642,043	D2735G	probably damaging	Het
Eif5b	A	T	1: 38,051,219	I1160F	possibly damaging	Het
Fzd9	T	C	5: 135,250,324	M236V	possibly damaging	Het
Gm13088	A	T	4: 143,655,490	M212K	probably damaging	Het
Haus6	A	G	4: 86,583,127	S836P	possibly damaging	Het
Hdac5	T	A	11: 102,206,686	K167I	possibly damaging	Het
Heatr5b	C	G	17: 78,761,995		probably benign	Het
Hist1h2ad	A	G	13: 23,574,490	Q7R	unknown	Het
Impdh1	G	A	6: 29,216,249		probably benign	Het
Iqgap3	T	C	3: 88,089,886	I192T	probably damaging	Het
Lama1	C	T	17: 67,805,372	A2269V		Het
Lamb3	A	G	1: 193,332,336	N601S	probably damaging	Het
Ltbp2	G	T	12: 84,828,542	N569K	probably damaging	Het
Macf1	T	C	4: 123,410,530	S60G	probably benign	Het
March6	A	T	15: 31,498,704	V149E	probably damaging	Het
Mcu	A	G	10: 59,451,256	S160P	probably benign	Het
Mindy4	T	C	6: 55,278,238	L567P	probably benign	Het
Ndst2	A	G	14: 20,724,762	I791T	probably benign	Het
Nebl	A	T	2: 17,730,860	M1K	probably null	Het
Olfr1344	T	C	7: 6,440,286	C129R	probably damaging	Het
Olfr368	A	G	2: 37,332,376	I210V	probably damaging	Het
Ormdl1	A	T	1: 53,305,549	D90V	probably damaging	Het
Pank1	A	T	19: 34,827,503		probably benign	Het
Pcdhac2	T	A	18: 37,144,018	L17Q	probably benign	Het
Pde3a	A	T	6: 141,459,796	D458V	probably damaging	Het
Pgm2	T	G	4: 99,967,100	N323K	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Pigw	A	T	11: 84,877,135	I456K	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plxnc1	T	A	10: 94,849,847	I761L	probably benign	Het
Prkaca	A	G	8: 83,990,522	N172D	probably damaging	Het
Rab3b	A	C	4: 108,940,728	D192A	probably benign	Het
Rims2	T	C	15: 39,534,954	L1105P	probably benign	Het
Rinl	T	A	7: 28,792,322	I100N	probably damaging	Het
Rnf13	T	G	3: 57,807,099	I193S	probably damaging	Het
Rnf213	A	G	11: 119,443,042	I3027V		Het
Sik2	A	T	9: 50,898,726	S512R	probably damaging	Het
Snx17	A	G	5: 31,196,543	Y225C	probably damaging	Het
Spata13	A	T	14: 60,750,075	D894V	probably damaging	Het
Spx	A	G	6: 142,414,817	D65G	probably damaging	Het
Syne1	G	T	10: 5,349,020	S1022*	probably null	Het
Tchh	C	T	3: 93,447,650	Q1466*	probably null	Het
Tmem120b	T	C	5: 123,116,239	L292P	probably damaging	Het
Vmn2r10	T	C	5: 108,995,811	T758A	probably benign	Het
Vmn2r45	C	T	7: 8,485,620	C137Y	probably damaging	Het
Zfp994	A	G	17: 22,205,325	S4P	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ACAAACCTCCTGCATACGTG -3'
(R):5'- TAAATGCCAATGCCTTGTGTATTCC -3'

Sequencing Primer
(F):5'- TACGTGCAGGACAATCCCCG -3'
(R):5'- TTTCTCAAAGACATCTTCGACTTTG -3'

Posted On

2021-08-02