Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01461:Miga1'

87982

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 #

IGL01461

Quality Score

Status

Chromosome

Chromosomal Location

152273849-152340407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 152335297 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 78 (E78K)

Ref Sequence

ENSEMBL: ENSMUSP00000143008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068243] [ENSMUST00000073089] [ENSMUST00000196265] [ENSMUST00000199334] [ENSMUST00000199397]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068243
AA Change: E78K

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: E78K

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: E78K

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: E78K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196265
AA Change: E78K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142667
Gene: ENSMUSG00000054942
AA Change: E78K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199334
AA Change: E78K

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: E78K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000199397
AA Change: E78K

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

SMART Domains

Protein: ENSMUSP00000143008
Gene: ENSMUSG00000054942
AA Change: E78K

Domain	Start	End	E-Value	Type
Pfam:DUF2217	26	145	8.4e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200241

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,281,095	F767S	probably benign	Het
2810474O19Rik	T	C	6: 149,331,515		probably benign	Het
Abca13	A	G	11: 9,403,834	T3719A	probably damaging	Het
Apob	A	T	12: 8,001,884	M1137L	probably benign	Het
Brd9	C	T	13: 73,951,598	Q445*	probably null	Het
Cdh23	T	C	10: 60,409,147	T990A	possibly damaging	Het
Cenpf	A	G	1: 189,657,096	L1513S	probably damaging	Het
Col27a1	A	G	4: 63,224,243	K56R	probably damaging	Het
Cryaa	A	G	17: 31,681,026	Y118C	probably damaging	Het
Dtl	T	C	1: 191,546,617	T378A	possibly damaging	Het
E330020D12Rik	A	G	1: 153,408,359		noncoding transcript	Het
F7	A	G	8: 13,032,245	D145G	possibly damaging	Het
Flvcr2	A	G	12: 85,803,131		probably benign	Het
Hltf	A	T	3: 20,099,939	K680*	probably null	Het
Ing1	T	G	8: 11,561,453	F22V	probably benign	Het
Ipo5	A	G	14: 120,928,533	D330G	probably damaging	Het
Itgax	G	T	7: 128,135,018	D321Y	probably damaging	Het
Kdelc1	T	C	1: 44,110,934	Q365R	probably damaging	Het
Kel	A	C	6: 41,701,911		probably null	Het
March10	T	C	11: 105,389,605	K618R	probably damaging	Het
Mast4	T	A	13: 102,754,068	M925L	probably damaging	Het
Olfr1204	G	T	2: 88,852,325	C125F	probably damaging	Het
Olfr58	T	A	9: 19,783,949		probably null	Het
Pkdrej	T	C	15: 85,820,374	I454V	possibly damaging	Het
Prpf6	C	A	2: 181,631,511	T283N	probably benign	Het
R3hdm1	A	G	1: 128,178,906	H197R	probably damaging	Het
Smpd4	A	C	16: 17,621,506	Q7P	probably damaging	Het
Vmn2r84	A	T	10: 130,391,225	I248K	possibly 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
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

Posted On

2013-11-18