Mutagenetix > Incidental Mutations

Incidental Mutation 'R6438:Miga1'

535643

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 #

R6438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152273849-152340407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152322403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 163 (D163G)

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: D163G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: D163G

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: D163G

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

SMART Domains

Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: D163G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199334
AA Change: D163G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: D163G

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.0%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	C	T	14: 8,431,701	V644M	probably damaging	Het
Ado	A	T	10: 67,548,541	I78N	probably damaging	Het
Arhgap18	T	C	10: 26,772,698		probably null	Het
Arl11	A	G	14: 61,310,944	T68A	probably benign	Het
Atxn2	T	A	5: 121,779,432	I463N	probably damaging	Het
B3gnt4	G	A	5: 123,511,591	E340K	probably benign	Het
C1ra	C	T	6: 124,513,777	T43I	possibly damaging	Het
C6	T	A	15: 4,796,983	Y683N	possibly damaging	Het
Cdk12	T	A	11: 98,224,467	Y811*	probably null	Het
Chd9	A	T	8: 90,998,521	E1159D	probably benign	Het
Efcab7	T	A	4: 99,909,772	S505T	probably benign	Het
Erich3	A	T	3: 154,695,753	Y13F	probably damaging	Het
Esco1	A	T	18: 10,572,031	C770S	probably damaging	Het
Evpl	C	A	11: 116,230,101	R436L	probably benign	Het
Fam185a	T	A	5: 21,458,972		probably null	Het
Gm16432	T	C	1: 178,111,303	Y581H	possibly damaging	Het
Gm17078	A	G	14: 51,611,238	V14A	probably benign	Het
Hectd2	T	C	19: 36,618,842	*776Q	probably null	Het
Ldb2	T	C	5: 44,480,310	R219G	probably damaging	Het
Lrrn4	T	C	2: 132,870,142	E587G	probably damaging	Het
Malrd1	T	C	2: 15,614,206	S294P		Het
Map7	A	G	10: 20,267,257	E384G	unknown	Het
Myo7b	G	A	18: 31,966,329	S1680F	probably damaging	Het
Nell2	C	T	15: 95,232,498	V665M	probably damaging	Het
Npas3	T	C	12: 54,068,698	V770A	probably damaging	Het
Pcm1	C	T	8: 41,325,381	R1818W	possibly damaging	Het
Slc4a9	T	A	18: 36,535,687	N701K	probably benign	Het
Slc5a9	A	G	4: 111,891,825	V187A	probably benign	Het
Slf1	A	T	13: 77,066,606	C654S	probably damaging	Het
Srek1ip1	A	G	13: 104,837,370	Y95C	probably benign	Het
Synpo2l	A	G	14: 20,661,136	V472A	probably benign	Het
Tmem168	A	T	6: 13,602,674	I231N	probably benign	Het
Usp34	T	C	11: 23,364,266	M717T	probably benign	Het
Zfp672	T	C	11: 58,316,737	T253A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TTTTATCCTCCACAGGCTGGG -3'
(R):5'- CAGATTTGGCATGGACTTCAGG -3'

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

Posted On

2018-09-24