Mutagenetix > Incidental Mutations

Incidental Mutation 'R8423:Miga1'

653293

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 #

R8423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152273849-152340407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152322408 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 161 (D161E)

Ref Sequence

ENSEMBL: ENSMUSP00000072836 (fasta)

Gene Model

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

AlphaFold

Q4QQM5

Predicted Effect

probably benign
Transcript: ENSMUST00000068243
AA Change: D161E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: D161E

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: D161E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: D161E

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 benign
Transcript: ENSMUST00000199334
AA Change: D161E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: D161E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199443

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,490,910	D449G	possibly damaging	Het
Ampd1	T	C	3: 103,080,989	S83P	probably benign	Het
Bub1	G	A	2: 127,807,830	L703F	probably benign	Het
C1rb	T	A	6: 124,574,658	D242E	probably damaging	Het
Carf	T	A	1: 60,150,593	L659Q	possibly damaging	Het
Carmil3	A	G	14: 55,499,065	N662S	probably damaging	Het
Ccno	A	G	13: 112,988,144	S83G	possibly damaging	Het
Chd3	A	T	11: 69,354,426	Y1155*	probably null	Het
Clec16a	A	G	16: 10,576,663	E295G	probably benign	Het
Clnk	A	G	5: 38,794,910		probably null	Het
Clvs2	T	C	10: 33,622,859	D25G	possibly damaging	Het
Cnr2	C	T	4: 135,917,516	R302W	probably damaging	Het
Col20a1	A	G	2: 180,998,705	T594A	probably damaging	Het
Dclk3	C	T	9: 111,468,719	R444W	possibly damaging	Het
Dmxl1	T	C	18: 49,865,116	V761A	probably damaging	Het
Dnah7a	C	A	1: 53,472,904	K2999N	possibly damaging	Het
Dusp28	T	C	1: 92,907,184	S44P	probably damaging	Het
Enpep	T	G	3: 129,309,125	N394T	probably damaging	Het
Fam135a	A	T	1: 24,021,917	F1343I	probably damaging	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Fbxo40	A	T	16: 36,970,585	H54Q	probably damaging	Het
Galnt9	A	G	5: 110,596,245	D315G	probably benign	Het
Gbp4	T	A	5: 105,119,934	D482V	probably damaging	Het
Gm17175	T	A	14: 51,571,613	I99F	possibly damaging	Het
Gm340	T	C	19: 41,585,449	I881T	possibly damaging	Het
Heatr4	A	G	12: 83,980,330	F51S	probably benign	Het
Herc1	T	C	9: 66,508,160	S4806P	probably damaging	Het
Hoxc11	G	A	15: 102,954,742	V73I	possibly damaging	Het
Knl1	T	G	2: 119,070,032	I738S	probably damaging	Het
Lipt2	T	C	7: 100,160,243	F179S	probably damaging	Het
Lrrc8b	G	A	5: 105,480,756	V323M	probably damaging	Het
Ltbp1	T	C	17: 75,292,857	S665P	probably benign	Het
Mynn	A	G	3: 30,603,784	T84A	probably benign	Het
Olfr1248	A	T	2: 89,617,987	D68E	probably damaging	Het
Olfr159	T	C	4: 43,770,598	S138G	possibly damaging	Het
Olfr401	T	C	11: 74,121,666	F126L	probably benign	Het
Pik3r3	C	T	4: 116,222,375	S23L	probably benign	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Ralgapa1	A	G	12: 55,659,062	S1892P	probably damaging	Het
Slc6a18	T	A	13: 73,665,574	Q540L	probably benign	Het
Tfap2a	A	T	13: 40,719,230	N323K	possibly damaging	Het
Tgm1	A	T	14: 55,705,643	M580K	probably benign	Het
Tnrc6b	G	A	15: 80,929,418	G1792D	unknown	Het
Trim66	T	A	7: 109,475,392	Q554L	possibly damaging	Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn1r238	G	T	18: 3,123,365	C16*	probably null	Het
Vmn1r6	G	A	6: 57,002,510	M52I	probably benign	Het
Zfp61	A	G	7: 24,292,034	F231L	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
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
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'- TTTTATCCTCCACAGGCTGG -3'
(R):5'- AGATTTGGCATGGACTTCAGG -3'

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

Posted On

2020-10-20