Mutagenetix > Incidental Mutations

Incidental Mutation 'R3697:Miga1'

269849

Institutional Source

Beutler Lab

Gene Symbol

Miga1

Ensembl Gene

ENSMUSG00000054942

Gene Name

mitoguardin 1

Synonyms

C030011O14Rik

MMRRC Submission

040691-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3697 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152273849-152340407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152322436 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 152 (N152S)

Ref Sequence

ENSEMBL: ENSMUSP00000143238 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000068243
AA Change: N152S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: N152S

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: N152S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: N152S

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

probably damaging
Transcript: ENSMUST00000199334
AA Change: N152S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: N152S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199443

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh4a1	A	G	4: 139,642,251	H371R	possibly damaging	Het
Arhgef4	A	G	1: 34,722,440	D259G	unknown	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Clcn3	T	C	8: 60,913,123	D805G	probably benign	Het
Cnmd	C	A	14: 79,637,981	R333L	probably damaging	Het
Col4a4	A	T	1: 82,541,237	I79N	unknown	Het
Emc1	T	G	4: 139,365,386	S546A	possibly damaging	Het
Ermard	T	C	17: 15,053,376	S408P	probably benign	Het
Gls	C	T	1: 52,199,764	M364I	possibly damaging	Het
Gm16380	A	G	9: 53,884,452		noncoding transcript	Het
Il12a	TCAC	TC	3: 68,697,987		probably null	Het
Il6st	T	G	13: 112,504,382	D897E	probably benign	Het
Itga3	T	C	11: 95,062,725	T233A	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Lemd3	CCCTCCTCCTCCTCCTCCTCC	CCCTCCTCCTCCTCCTCC	10: 120,978,527		probably benign	Het
Nckipsd	G	A	9: 108,811,121	G83S	probably damaging	Het
Nedd4	T	C	9: 72,740,187	F728L	probably damaging	Het
Nid1	G	A	13: 13,486,759	C748Y	probably damaging	Het
Nop56	C	A	2: 130,277,587	N57K	probably damaging	Het
Nup205	A	G	6: 35,188,711	N197S	probably benign	Het
Pglyrp3	T	A	3: 92,028,174	C244S	probably damaging	Het
Rgs22	C	T	15: 36,099,892	V226I	probably benign	Het
Rtp3	T	A	9: 110,987,194	R96S	possibly damaging	Het
Serpinb8	A	T	1: 107,607,146	K316*	probably null	Het
Sp6	C	A	11: 97,021,754	P98T	possibly damaging	Het
Vmn1r15	A	T	6: 57,258,336	D63V	possibly damaging	Het
Vmn1r216	G	A	13: 23,099,679	W177*	probably null	Het
Zfp414	CAAACTCTTCCGA	CAAACTCTTCCGAAACTCTTCCGA	17: 33,630,577		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GCATGCCAGGCAAGTTCTTTG -3'
(R):5'- AGCAGATTTGGCATGGACTTC -3'

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

Posted On

2015-03-18