Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01011:Miga1'

53481

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Miga1

Ensembl Gene

ENSMUSG00000054942

Gene Name

mitoguardin 1

Synonyms

C030011O14Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01011

Quality Score

Status

Chromosome

Chromosomal Location

152273849-152340407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 152276690 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 519 (T519K)

Ref Sequence

ENSEMBL: ENSMUSP00000068261 (fasta)

Gene Model

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

AlphaFold

Q4QQM5

Predicted Effect

probably benign
Transcript: ENSMUST00000068243
AA Change: T519K

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: T519K

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 benign
Transcript: ENSMUST00000073089
AA Change: T583K

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: T583K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,258,246	C282S	probably damaging	Het
Abca12	T	C	1: 71,263,632	I2143V	probably benign	Het
Adgrg6	A	C	10: 14,409,798	I1148S	probably damaging	Het
Aox4	C	T	1: 58,240,775	R517*	probably null	Het
Arnt2	T	A	7: 84,285,829	D289V	probably benign	Het
Atad2b	A	G	12: 4,965,984	N570S	probably benign	Het
Aven	G	A	2: 112,629,785	D208N	possibly damaging	Het
Bcl9l	A	G	9: 44,505,179	D183G	possibly damaging	Het
Cd300lf	A	G	11: 115,124,333	S144P	probably benign	Het
Chd8	C	A	14: 52,231,532	G543V	possibly damaging	Het
Chrm2	A	G	6: 36,524,438	N410S	probably benign	Het
Clip4	A	G	17: 71,849,939	I590V	probably benign	Het
Cnbp	C	T	6: 87,845,700	R27H	probably benign	Het
Col4a3	T	C	1: 82,682,301	V889A	unknown	Het
Cxcl5	T	C	5: 90,760,523		probably benign	Het
Dennd6a	G	T	14: 26,603,054	V171F	probably damaging	Het
Dhx38	T	C	8: 109,562,691	I26V	probably benign	Het
Dscaml1	A	G	9: 45,683,672	D691G	possibly damaging	Het
Etfdh	A	T	3: 79,612,061		probably benign	Het
Fbn2	G	A	18: 58,095,240		probably benign	Het
Foxp2	T	A	6: 15,438,019	*715R	probably null	Het
Ftl1	A	T	7: 45,458,646	D65E	probably benign	Het
Galm	A	G	17: 80,183,280	T289A	probably benign	Het
Gm20721	A	G	2: 174,345,738	D1049G	probably damaging	Het
Gm28778	T	C	1: 53,299,118	V47A	probably benign	Het
Gm5414	T	C	15: 101,628,134	S19G	probably benign	Het
Hdac7	T	A	15: 97,793,935	E835D	possibly damaging	Het
Hist1h1t	C	T	13: 23,696,049	L62F	probably damaging	Het
Hspg2	C	T	4: 137,559,335	T3663I	probably damaging	Het
Kdm4d	A	T	9: 14,464,219	D114E	probably benign	Het
Kif5a	A	T	10: 127,239,196	V516E	probably benign	Het
Lrrtm1	A	G	6: 77,244,235		probably null	Het
Mtfr1l	G	A	4: 134,529,200	P182S	probably damaging	Het
Myo15	A	G	11: 60,476,992	I193V	probably benign	Het
Myo1e	T	C	9: 70,316,589		probably benign	Het
Olfr190	T	A	16: 59,074,430	T217S	probably benign	Het
Olfr376	A	T	11: 73,375,007	Q86L	probably benign	Het
Olfr541	A	T	7: 140,704,437	Y62F	probably damaging	Het
Pias1	T	C	9: 62,912,855	T277A	probably benign	Het
Slamf6	T	A	1: 171,938,099	H263Q	probably benign	Het
Snrnp48	A	G	13: 38,220,764	D202G	probably damaging	Het
Snx13	T	A	12: 35,098,280	D269E	probably damaging	Het
Tiam2	A	T	17: 3,415,028	D344V	probably benign	Het
Tmem62	G	T	2: 120,979,219	K127N	possibly damaging	Het
Trav15-1-dv6-1	C	T	14: 53,560,035	T46I	possibly damaging	Het
Trav16d-dv11	C	T	14: 53,047,584	T39M	possibly damaging	Het
Trio	T	C	15: 27,736,489	D2794G	probably damaging	Het
Trpc7	C	T	13: 56,804,540	G551D	probably damaging	Het
Ttc37	G	A	13: 76,122,665	C127Y	probably damaging	Het
Ttn	A	G	2: 76,814,290	V11294A	possibly damaging	Het
Ubap2	G	A	4: 41,195,328		probably benign	Het
Ubap2l	G	A	3: 90,009,256	Q915*	probably null	Het
Ubfd1	A	G	7: 122,078,472	E340G	probably benign	Het
Vil1	T	C	1: 74,434,887		probably null	Het
Vmn1r6	T	G	6: 57,002,544	L42V	probably benign	Het
Vps13c	A	G	9: 67,926,955	T1635A	probably damaging	Het
Zfhx3	T	A	8: 108,793,594	H449Q	probably benign	Het
Zfp750	A	T	11: 121,513,096	S318T	probably benign	Het

Other mutations in Miga1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8893:Miga1	UTSW	3	152276657	missense	probably damaging	1.00

Posted On

2013-06-28