Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02736:Mgarp'

305677

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mgarp

Ensembl Gene

ENSMUSG00000037161

Gene Name

mitochondria localized glutamic acid rich protein

Synonyms

4930583H14Rik, Osap

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02736

Quality Score

Status

Chromosome

Chromosomal Location

51295833-51303968 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 51303866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 36 (A36S)

Ref Sequence

ENSEMBL: ENSMUSP00000123126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038154] [ENSMUST00000108046] [ENSMUST00000141156]

AlphaFold

Q8VI64

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038154
AA Change: A22S

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040703
Gene: ENSMUSG00000037161
AA Change: A22S

Domain	Start	End	E-Value	Type
Pfam:AIF-MLS	1	185	1.9e-70	PFAM
internal_repeat_1	200	225	3.83e-5	PROSPERO
low complexity region	245	278	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108046

SMART Domains

Protein: ENSMUSP00000103681
Gene: ENSMUSG00000037161

Domain	Start	End	E-Value	Type
Pfam:AIF-MLS	10	177	7.6e-54	PFAM
low complexity region	237	270	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141156
AA Change: A36S

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123126
Gene: ENSMUSG00000037161
AA Change: A36S

Domain	Start	End	E-Value	Type
Pfam:AIF-MLS	16	210	3.8e-82	PFAM
internal_repeat_1	214	239	5.25e-5	PROSPERO
low complexity region	259	291	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157054

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 12,042,275 (GRCm39)	A416T	probably benign	Het
Aadacl4fm1	G	A	4: 144,255,207 (GRCm39)	R209K	probably benign	Het
Akap12	A	G	10: 4,305,637 (GRCm39)	I816V	probably benign	Het
Antxrl	A	G	14: 33,778,575 (GRCm39)		probably benign	Het
Atp1a3	G	A	7: 24,679,534 (GRCm39)	T920I	probably damaging	Het
Cd22	C	T	7: 30,577,470 (GRCm39)		probably null	Het
Cntn3	T	A	6: 102,180,900 (GRCm39)	N765I	probably damaging	Het
Cracdl	T	C	1: 37,676,954 (GRCm39)	E76G	probably damaging	Het
Crebbp	G	A	16: 3,972,774 (GRCm39)	P307S	probably benign	Het
Dapk2	T	A	9: 66,176,198 (GRCm39)	M333K	probably benign	Het
Decr1	T	A	4: 15,930,952 (GRCm39)	T127S	probably benign	Het
Dnmbp	A	T	19: 43,838,209 (GRCm39)		probably benign	Het
Erbin	A	G	13: 103,975,903 (GRCm39)	S664P	probably damaging	Het
Hectd4	G	T	5: 121,480,782 (GRCm39)	C2941F	possibly damaging	Het
Ighv1-4	A	G	12: 114,450,872 (GRCm39)	Y79H	probably benign	Het
Matn3	T	A	12: 9,005,422 (GRCm39)	D277E	possibly damaging	Het
Mycbp2	A	G	14: 103,351,678 (GRCm39)		probably benign	Het
Nynrin	G	A	14: 56,108,366 (GRCm39)	A1158T	probably damaging	Het
Or4k5	G	A	14: 50,385,881 (GRCm39)	A150V	probably benign	Het
Or6k14	T	G	1: 173,927,213 (GRCm39)	I63S	probably damaging	Het
Pakap	C	A	4: 57,709,721 (GRCm39)	A222E	probably damaging	Het
Pkd1l2	T	C	8: 117,767,405 (GRCm39)	D1295G	probably benign	Het
Ppig	A	G	2: 69,566,438 (GRCm39)	I171M	probably damaging	Het
Ptprs	A	T	17: 56,765,248 (GRCm39)	V12E	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rpgrip1l	T	A	8: 91,990,219 (GRCm39)	Q741L	possibly damaging	Het
Slco6d1	T	C	1: 98,356,036 (GRCm39)	V157A	possibly damaging	Het
Sox6	A	C	7: 115,179,875 (GRCm39)	D302E	probably damaging	Het
Spata3	T	C	1: 85,952,157 (GRCm39)	V136A	probably damaging	Het
St6galnac6	G	A	2: 32,504,983 (GRCm39)	R129H	probably benign	Het
Tmem184c	A	T	8: 78,324,475 (GRCm39)	D338E	probably damaging	Het
Tmem67	A	G	4: 12,045,789 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,708,614 (GRCm39)		probably benign	Het
Usp16	T	C	16: 87,261,723 (GRCm39)	V113A	possibly damaging	Het
Utrn	A	G	10: 12,297,384 (GRCm39)	Y675H	probably damaging	Het
Zc3h4	T	A	7: 16,151,308 (GRCm39)	Y117*	probably null	Het
Zc3h7b	A	T	15: 81,676,175 (GRCm39)	M694L	probably benign	Het
Zfp345	A	T	2: 150,316,474 (GRCm39)	Y45N	probably damaging	Het

Other mutations in Mgarp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01611:Mgarp	APN	3	51,296,570 (GRCm39)	missense	probably damaging	0.99
IGL02145:Mgarp	APN	3	51,296,453 (GRCm39)	missense	possibly damaging	0.79
IGL02824:Mgarp	APN	3	51,296,508 (GRCm39)	missense	probably damaging	0.98
R0117:Mgarp	UTSW	3	51,304,133 (GRCm39)	unclassified	probably benign
R0152:Mgarp	UTSW	3	51,296,384 (GRCm39)	missense	probably benign	0.01
R0492:Mgarp	UTSW	3	51,296,456 (GRCm39)	missense	possibly damaging	0.77
R4433:Mgarp	UTSW	3	51,303,681 (GRCm39)	intron	probably benign
R5048:Mgarp	UTSW	3	51,298,707 (GRCm39)	missense	probably damaging	0.99
R5290:Mgarp	UTSW	3	51,296,387 (GRCm39)	missense	possibly damaging	0.92
R5470:Mgarp	UTSW	3	51,298,706 (GRCm39)	missense	possibly damaging	0.77
R5780:Mgarp	UTSW	3	51,299,269 (GRCm39)	missense	probably damaging	1.00
R7836:Mgarp	UTSW	3	51,296,487 (GRCm39)	missense	probably benign	0.00
R7903:Mgarp	UTSW	3	51,304,119 (GRCm39)	missense
R8463:Mgarp	UTSW	3	51,296,348 (GRCm39)	missense	probably damaging	0.96
R9035:Mgarp	UTSW	3	51,296,264 (GRCm39)	missense	unknown
R9454:Mgarp	UTSW	3	51,303,902 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16