Mutagenetix > Incidental Mutations

Incidental Mutation 'R6107:Miga1'

485548

Institutional Source

Beutler Lab

Gene Symbol

Miga1

Ensembl Gene

ENSMUSG00000054942

Gene Name

mitoguardin 1

Synonyms

C030011O14Rik

MMRRC Submission

044257-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6107 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152273849-152340407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152335399 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 44 (F44I)

Ref Sequence

ENSEMBL: ENSMUSP00000142667 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000068243
AA Change: F44I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: F44I

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: F44I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: F44I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196265
AA Change: F44I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142667
Gene: ENSMUSG00000054942
AA Change: F44I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199334
AA Change: F44I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: F44I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199397
AA Change: F44I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000143008
Gene: ENSMUSG00000054942
AA Change: F44I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200241

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adgrl3	A	G	5: 81,688,563	R723G	probably damaging	Het
Ankrd52	C	A	10: 128,387,012	N610K	probably benign	Het
Atp2a3	A	G	11: 72,988,461		probably null	Het
Bahcc1	G	A	11: 120,272,888	A671T	probably benign	Het
Col6a5	A	T	9: 105,892,272	Y1764*	probably null	Het
E2f8	A	G	7: 48,867,676	V793A	probably benign	Het
Erbin	A	G	13: 103,833,892	I1072T	probably benign	Het
Exoc2	T	C	13: 30,876,797	I575V	probably benign	Het
Fbxw19	C	T	9: 109,495,766	V28M	probably damaging	Het
Flt1	G	A	5: 147,603,593	T762M	probably benign	Het
Ghitm	C	A	14: 37,125,209	A303S	probably damaging	Het
Gm18856	T	A	13: 13,965,734		probably benign	Het
Gm5493	T	A	17: 22,748,096	H68Q	possibly damaging	Het
Hells	T	G	19: 38,953,649	I461S	probably benign	Het
Inpp4a	T	A	1: 37,377,748	I450N	probably damaging	Het
Kbtbd6	T	A	14: 79,453,113	V353D	probably damaging	Het
Kifap3	A	T	1: 163,868,769	T656S	possibly damaging	Het
Med23	A	T	10: 24,906,034	K713*	probably null	Het
Ngrn	A	G	7: 80,261,877	E74G	probably damaging	Het
Olfr1286	T	C	2: 111,420,655	S99G	probably benign	Het
Patl2	A	T	2: 122,127,486	L97Q	probably damaging	Het
Pcdha1	A	G	18: 36,932,301	I673V	probably benign	Het
Pcsk1	A	G	13: 75,127,848	T543A	probably benign	Het
Plch1	C	T	3: 63,702,023	R912H	probably damaging	Het
Prl8a8	A	G	13: 27,511,464	V100A	possibly damaging	Het
Rnase10	T	A	14: 51,009,294	V43E	possibly damaging	Het
Robo1	A	G	16: 72,983,829	S816G	probably benign	Het
Slc25a34	C	T	4: 141,623,495	V68M	probably benign	Het
Slc25a48	A	T	13: 56,465,078	E263V	probably damaging	Het
Slc7a14	A	G	3: 31,257,610	V87A	probably damaging	Het
Slc8b1	A	G	5: 120,529,600	I433V	probably damaging	Het
Smurf1	A	G	5: 144,894,504	V259A	possibly damaging	Het
Spag6l	T	A	16: 16,781,788	N270I	possibly damaging	Het
Tas2r113	G	A	6: 132,893,014	V2M	probably damaging	Het
Tnpo2	T	C	8: 85,053,475	V680A	probably damaging	Het
Ttyh3	A	C	5: 140,633,562		probably null	Het
Ufl1	A	G	4: 25,251,999	S639P	possibly damaging	Het
Znfx1	A	T	2: 167,037,081	F928I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTTGCAGGAGGTCTAAC -3'
(R):5'- AATTGTCCAGATAGCAGGGTTC -3'

Sequencing Primer
(F):5'- TGATGCAGCTCTCCTAGT -3'
(R):5'- CCAGATAGCAGGGTTCTAAAAATAC -3'

Posted On

2017-08-16