Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01319:Mipep'

73975

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mipep

Ensembl Gene

ENSMUSG00000021993

Gene Name

mitochondrial intermediate peptidase

Synonyms

5730405E07Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL01319

Quality Score

Status

Chromosome

Chromosomal Location

60784573-60905478 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60843271 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 571 (M571L)

Ref Sequence

ENSEMBL: ENSMUSP00000153502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063562] [ENSMUST00000224635] [ENSMUST00000225506]

Predicted Effect

probably benign
Transcript: ENSMUST00000063562
AA Change: M571L

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

SMART Domains

Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
AA Change: M571L

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
Pfam:Peptidase_M3	252	697	5.4e-145	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223709

Predicted Effect

probably benign
Transcript: ENSMUST00000224635
AA Change: M571L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225506

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,933,642	V307E	probably benign	Het
Bub1b	T	C	2: 118,614,994	I265T	possibly damaging	Het
Cntnap3	G	A	13: 64,787,837	T404I	probably damaging	Het
Disc1	T	C	8: 125,087,891	S165P	probably damaging	Het
Dock1	T	C	7: 134,789,278	F756L	probably benign	Het
Dock2	A	G	11: 34,698,790	V480A	possibly damaging	Het
Drc3	A	G	11: 60,364,962	D125G	probably null	Het
Emid1	C	T	11: 5,143,859	C96Y	probably damaging	Het
F13b	A	G	1: 139,506,793	N99S	probably damaging	Het
Fam20a	A	G	11: 109,678,458		probably benign	Het
Fancd2	C	A	6: 113,584,899	T1243K	probably damaging	Het
Fbxw14	T	C	9: 109,278,791	K172E	probably damaging	Het
Gm13941	T	C	2: 111,094,805		probably null	Het
Gtpbp4	A	T	13: 8,985,260	N354K	probably benign	Het
Igkv2-116	T	C	6: 68,152,404	L50P	probably benign	Het
Klrb1-ps1	C	T	6: 129,116,585	P23L	possibly damaging	Het
Kng2	T	A	16: 23,028,834	I26F	probably damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Lrpprc	T	C	17: 84,705,412		probably benign	Het
Man2a2	C	T	7: 80,361,132	V704M	possibly damaging	Het
Mbip	A	G	12: 56,330,242	V303A	probably benign	Het
Ncan	A	T	8: 70,097,562	V1188D	probably damaging	Het
Pcdhb4	T	C	18: 37,308,513	V292A	probably benign	Het
Pkd1	T	C	17: 24,587,919		probably benign	Het
Ppp2r2c	T	A	5: 36,947,121	S282T	possibly damaging	Het
Rad54l2	C	T	9: 106,719,046	G231D	probably benign	Het
Rnf20	T	G	4: 49,649,326	D443E	probably damaging	Het
Rptor	A	G	11: 119,891,170	M1108V	probably benign	Het
Serpine2	A	G	1: 79,810,694	V182A	probably damaging	Het
Sesn2	C	T	4: 132,499,967		probably benign	Het
Shank1	C	A	7: 44,353,123	A1422E	possibly damaging	Het
Slc13a4	C	T	6: 35,307,353		probably null	Het
Snrnp200	T	C	2: 127,230,127		probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
Tbxas1	A	G	6: 39,017,973	I178V	probably benign	Het
Tmem2	C	T	19: 21,844,757	P1172L	possibly damaging	Het
Triml1	A	G	8: 43,141,397		probably benign	Het
Tsen2	A	T	6: 115,576,984	Q441L	probably damaging	Het
Ttc23l	A	G	15: 10,509,406		probably benign	Het
Ttc37	A	G	13: 76,129,379	H491R	probably benign	Het
Ttn	T	C	2: 76,881,304		probably benign	Het
Vsig10l	C	T	7: 43,465,254	S293L	probably damaging	Het
Zcchc13	C	A	X: 103,631,000	Q110K	possibly damaging	Het

Other mutations in Mipep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Mipep	APN	14	60875260	missense	probably benign	0.43
IGL00476:Mipep	APN	14	60827361	missense	probably damaging	1.00
IGL01608:Mipep	APN	14	60802230	missense	possibly damaging	0.65
IGL01621:Mipep	APN	14	60796165	splice site	probably benign
PIT4585001:Mipep	UTSW	14	60784835	missense	probably benign	0.01
R0635:Mipep	UTSW	14	60829390	missense	probably damaging	0.97
R1180:Mipep	UTSW	14	60834056	missense	probably damaging	1.00
R1463:Mipep	UTSW	14	60788146	splice site	probably benign
R1831:Mipep	UTSW	14	60872063	missense	probably damaging	1.00
R1833:Mipep	UTSW	14	60872063	missense	probably damaging	1.00
R1852:Mipep	UTSW	14	60843240	nonsense	probably null
R2115:Mipep	UTSW	14	60787380	missense	probably damaging	0.96
R2285:Mipep	UTSW	14	60787394	missense	possibly damaging	0.94
R3890:Mipep	UTSW	14	60808995	missense	probably damaging	1.00
R3892:Mipep	UTSW	14	60808995	missense	probably damaging	1.00
R4078:Mipep	UTSW	14	60846477	missense	probably damaging	1.00
R4509:Mipep	UTSW	14	60827321	missense	probably damaging	1.00
R4619:Mipep	UTSW	14	60903416	missense	probably damaging	0.97
R4707:Mipep	UTSW	14	60872103	missense	probably damaging	0.98
R4804:Mipep	UTSW	14	60802952	missense	probably damaging	1.00
R4870:Mipep	UTSW	14	60802880	nonsense	probably null
R4964:Mipep	UTSW	14	60784782	missense	probably damaging	0.97
R4966:Mipep	UTSW	14	60784782	missense	probably damaging	0.97
R4984:Mipep	UTSW	14	60788182	missense	possibly damaging	0.87
R5074:Mipep	UTSW	14	60809013	missense	probably benign	0.02
R5090:Mipep	UTSW	14	60802299	missense	possibly damaging	0.92
R5131:Mipep	UTSW	14	60903374	missense	probably damaging	1.00
R5569:Mipep	UTSW	14	60802934	missense	probably damaging	1.00
R6162:Mipep	UTSW	14	60787404	missense	probably damaging	0.99
R6195:Mipep	UTSW	14	60872105	missense	probably damaging	1.00
R6233:Mipep	UTSW	14	60872105	missense	probably damaging	1.00
R6680:Mipep	UTSW	14	60788223	missense	possibly damaging	0.67
R7120:Mipep	UTSW	14	60875247	missense	possibly damaging	0.60
R7470:Mipep	UTSW	14	60802895	missense	probably benign	0.31
R7826:Mipep	UTSW	14	60802131	missense	probably damaging	1.00
R7869:Mipep	UTSW	14	60802936	missense	probably damaging	1.00

Posted On

2013-10-07