Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01621:Mipep'

92620

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: 0.956) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

60784573-60905478 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 60796165 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063562] [ENSMUST00000224635] [ENSMUST00000225043] [ENSMUST00000225506]

AlphaFold

A6H611

Predicted Effect

probably benign
Transcript: ENSMUST00000063562

SMART Domains

Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225043

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Prpf40b	A	G	15: 99,310,045		probably benign	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably 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
IGL01319:Mipep	APN	14	60843271	missense	probably benign	0.00
IGL01608:Mipep	APN	14	60802230	missense	possibly damaging	0.65
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
R8862:Mipep	UTSW	14	60843240	nonsense	probably null
R8890:Mipep	UTSW	14	60872057	missense	probably damaging	1.00
R8983:Mipep	UTSW	14	60843253	missense	probably benign	0.00
R9020:Mipep	UTSW	14	60831228	nonsense	probably null
R9226:Mipep	UTSW	14	60831243	missense	possibly damaging	0.88
R9250:Mipep	UTSW	14	60790909	missense	probably damaging	1.00

Posted On

2013-12-09