Mutagenetix > Incidental Mutation

Incidental Mutation 'R0635:Mipep'

56634

Institutional Source

Beutler Lab

Gene Symbol

Mipep

Ensembl Gene

ENSMUSG00000021993

Gene Name

mitochondrial intermediate peptidase

Synonyms

5730405E07Rik

MMRRC Submission

038824-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R0635 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

61022022-61142927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61066839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 420 (V420I)

Ref Sequence

ENSEMBL: ENSMUSP00000153374 (fasta)

Gene Model

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

AlphaFold

A6H611

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063562
AA Change: V420I

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
AA Change: V420I

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

possibly damaging
Transcript: ENSMUST00000224635
AA Change: V420I

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225506
AA Change: V420I

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6688

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,264,891 (GRCm39)		probably benign	Het
Adamts15	A	G	9: 30,816,066 (GRCm39)	L631P	probably damaging	Het
Adamts17	T	C	7: 66,558,353 (GRCm39)	F266L	probably damaging	Het
Adgrb1	C	A	15: 74,412,741 (GRCm39)	Q488K	possibly damaging	Het
Armh4	A	G	14: 50,010,600 (GRCm39)	L369S	probably benign	Het
Cep290	A	G	10: 100,328,538 (GRCm39)	D109G	probably damaging	Het
Chil5	A	T	3: 105,924,519 (GRCm39)	Y229N	possibly damaging	Het
Cntnap1	A	G	11: 101,074,285 (GRCm39)	T742A	probably benign	Het
Col6a3	A	T	1: 90,735,808 (GRCm39)		probably null	Het
Col6a5	G	A	9: 105,805,805 (GRCm39)	P1034S	unknown	Het
Daxx	T	A	17: 34,131,618 (GRCm39)	D442E	probably benign	Het
Dmxl1	T	C	18: 49,984,490 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 117,971,731 (GRCm39)	F2942S	probably damaging	Het
Garin4	T	C	1: 190,895,924 (GRCm39)	T240A	probably benign	Het
Glg1	A	G	8: 111,890,396 (GRCm39)		probably benign	Het
Gm10272	G	A	10: 77,542,535 (GRCm39)		probably benign	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,649,766 (GRCm39)		noncoding transcript	Het
Haao	A	G	17: 84,146,003 (GRCm39)	F83S	probably damaging	Het
Hdgfl2	T	A	17: 56,403,057 (GRCm39)	L177Q	probably damaging	Het
Hrh1	T	C	6: 114,457,106 (GRCm39)	V129A	probably damaging	Het
Ift43	T	A	12: 86,131,855 (GRCm39)		probably benign	Het
Il21r	T	C	7: 125,231,678 (GRCm39)	Y369H	probably damaging	Het
Il2ra	C	T	2: 11,685,177 (GRCm39)	T171M	probably benign	Het
Lao1	C	T	4: 118,825,493 (GRCm39)	R438C	probably benign	Het
Lrrcc1	G	A	3: 14,624,288 (GRCm39)	S350N	probably benign	Het
Mageb5	T	A	X: 90,823,599 (GRCm39)	Y260F	probably benign	Het
Marchf5	A	T	19: 37,197,807 (GRCm39)	I159F	possibly damaging	Het
Mgat4a	G	A	1: 37,491,375 (GRCm39)	A282V	probably benign	Het
Morc2b	A	T	17: 33,356,661 (GRCm39)	F370L	possibly damaging	Het
Mt1	A	T	8: 94,906,449 (GRCm39)		probably null	Het
Ncapd2	A	G	6: 125,149,999 (GRCm39)	V943A	probably benign	Het
Nkd2	T	C	13: 73,975,013 (GRCm39)	D58G	probably benign	Het
Nol8	C	G	13: 49,830,234 (GRCm39)	S1106C	probably benign	Het
Nrm	C	A	17: 36,175,156 (GRCm39)	Y61*	probably null	Het
Nusap1	A	G	2: 119,458,148 (GRCm39)	T95A	probably damaging	Het
Ocln	T	A	13: 100,642,744 (GRCm39)	Q197L	probably damaging	Het
Or5p70	T	A	7: 107,994,971 (GRCm39)	F215I	probably benign	Het
Oxtr	A	G	6: 112,466,161 (GRCm39)	Y200H	probably damaging	Het
Paip2b	T	C	6: 83,786,891 (GRCm39)	E115G	possibly damaging	Het
Pcm1	T	A	8: 41,720,216 (GRCm39)		probably benign	Het
Pcnt	T	C	10: 76,240,419 (GRCm39)	D1205G	probably damaging	Het
Phka1	G	A	X: 101,665,006 (GRCm39)	R186C	probably damaging	Het
Pik3cb	A	G	9: 98,946,271 (GRCm39)		probably benign	Het
Pik3r1	C	T	13: 101,893,926 (GRCm39)	R81K	probably benign	Het
Ppa1	A	G	10: 61,501,219 (GRCm39)	D162G	probably benign	Het
Ppa1	A	G	10: 61,502,749 (GRCm39)	R191G	probably damaging	Het
Ppp4r3c2	T	C	X: 88,796,128 (GRCm39)		probably benign	Het
Prss22	T	A	17: 24,215,662 (GRCm39)	T87S	probably benign	Het
Rgr	T	A	14: 36,760,904 (GRCm39)	R218*	probably null	Het
Rreb1	A	T	13: 38,125,540 (GRCm39)	Q1282L	possibly damaging	Het
Scel	T	A	14: 103,820,575 (GRCm39)		probably null	Het
Sema6b	A	G	17: 56,436,971 (GRCm39)		probably null	Het
Slc4a1	T	C	11: 102,243,498 (GRCm39)	E711G	possibly damaging	Het
Snx19	C	A	9: 30,340,106 (GRCm39)	L415M	probably damaging	Het
Snx19	T	G	9: 30,340,107 (GRCm39)	L415R	probably damaging	Het
Specc1	G	A	11: 62,009,729 (GRCm39)	R495Q	probably damaging	Het
Tead1	T	C	7: 112,490,913 (GRCm39)		probably benign	Het
Timm10b	A	C	7: 105,289,895 (GRCm39)		probably benign	Het
Ubxn7	T	A	16: 32,186,235 (GRCm39)		probably benign	Het
Vmn2r116	T	A	17: 23,605,861 (GRCm39)	Y258N	possibly damaging	Het
Vmn2r77	T	A	7: 86,460,383 (GRCm39)	F570I	probably benign	Het
Vmn2r98	T	C	17: 19,300,759 (GRCm39)	V587A	probably benign	Het
Zfp398	T	C	6: 47,840,074 (GRCm39)	I101T	probably damaging	Het
Zfp808	T	A	13: 62,320,233 (GRCm39)	H487Q	probably damaging	Het

Other mutations in Mipep

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Mipep	APN	14	61,112,709 (GRCm39)	missense	probably benign	0.43
IGL00476:Mipep	APN	14	61,064,810 (GRCm39)	missense	probably damaging	1.00
IGL01319:Mipep	APN	14	61,080,720 (GRCm39)	missense	probably benign	0.00
IGL01608:Mipep	APN	14	61,039,679 (GRCm39)	missense	possibly damaging	0.65
IGL01621:Mipep	APN	14	61,033,614 (GRCm39)	splice site	probably benign
PIT4585001:Mipep	UTSW	14	61,022,284 (GRCm39)	missense	probably benign	0.01
R1180:Mipep	UTSW	14	61,071,505 (GRCm39)	missense	probably damaging	1.00
R1463:Mipep	UTSW	14	61,025,595 (GRCm39)	splice site	probably benign
R1831:Mipep	UTSW	14	61,109,512 (GRCm39)	missense	probably damaging	1.00
R1833:Mipep	UTSW	14	61,109,512 (GRCm39)	missense	probably damaging	1.00
R1852:Mipep	UTSW	14	61,080,689 (GRCm39)	nonsense	probably null
R2115:Mipep	UTSW	14	61,024,829 (GRCm39)	missense	probably damaging	0.96
R2285:Mipep	UTSW	14	61,024,843 (GRCm39)	missense	possibly damaging	0.94
R3890:Mipep	UTSW	14	61,046,444 (GRCm39)	missense	probably damaging	1.00
R3892:Mipep	UTSW	14	61,046,444 (GRCm39)	missense	probably damaging	1.00
R4078:Mipep	UTSW	14	61,083,926 (GRCm39)	missense	probably damaging	1.00
R4509:Mipep	UTSW	14	61,064,770 (GRCm39)	missense	probably damaging	1.00
R4619:Mipep	UTSW	14	61,140,865 (GRCm39)	missense	probably damaging	0.97
R4707:Mipep	UTSW	14	61,109,552 (GRCm39)	missense	probably damaging	0.98
R4804:Mipep	UTSW	14	61,040,401 (GRCm39)	missense	probably damaging	1.00
R4870:Mipep	UTSW	14	61,040,329 (GRCm39)	nonsense	probably null
R4964:Mipep	UTSW	14	61,022,231 (GRCm39)	missense	probably damaging	0.97
R4966:Mipep	UTSW	14	61,022,231 (GRCm39)	missense	probably damaging	0.97
R4984:Mipep	UTSW	14	61,025,631 (GRCm39)	missense	possibly damaging	0.87
R5074:Mipep	UTSW	14	61,046,462 (GRCm39)	missense	probably benign	0.02
R5090:Mipep	UTSW	14	61,039,748 (GRCm39)	missense	possibly damaging	0.92
R5131:Mipep	UTSW	14	61,140,823 (GRCm39)	missense	probably damaging	1.00
R5569:Mipep	UTSW	14	61,040,383 (GRCm39)	missense	probably damaging	1.00
R6162:Mipep	UTSW	14	61,024,853 (GRCm39)	missense	probably damaging	0.99
R6195:Mipep	UTSW	14	61,109,554 (GRCm39)	missense	probably damaging	1.00
R6233:Mipep	UTSW	14	61,109,554 (GRCm39)	missense	probably damaging	1.00
R6680:Mipep	UTSW	14	61,025,672 (GRCm39)	missense	possibly damaging	0.67
R7120:Mipep	UTSW	14	61,112,696 (GRCm39)	missense	possibly damaging	0.60
R7470:Mipep	UTSW	14	61,040,344 (GRCm39)	missense	probably benign	0.31
R7826:Mipep	UTSW	14	61,039,580 (GRCm39)	missense	probably damaging	1.00
R7869:Mipep	UTSW	14	61,040,385 (GRCm39)	missense	probably damaging	1.00
R8862:Mipep	UTSW	14	61,080,689 (GRCm39)	nonsense	probably null
R8890:Mipep	UTSW	14	61,109,506 (GRCm39)	missense	probably damaging	1.00
R8983:Mipep	UTSW	14	61,080,702 (GRCm39)	missense	probably benign	0.00
R9020:Mipep	UTSW	14	61,068,677 (GRCm39)	nonsense	probably null
R9226:Mipep	UTSW	14	61,068,692 (GRCm39)	missense	possibly damaging	0.88
R9250:Mipep	UTSW	14	61,028,358 (GRCm39)	missense	probably damaging	1.00
R9659:Mipep	UTSW	14	61,083,893 (GRCm39)	missense	probably damaging	0.98
R9732:Mipep	UTSW	14	61,033,637 (GRCm39)	missense	probably damaging	1.00
R9788:Mipep	UTSW	14	61,083,893 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCAGAAGTGGAGCAAATCAGTGAC -3'
(R):5'- TGGAAACTCTTTGGTGGTGCCTTTAAAT -3'

Sequencing Primer
(F):5'- ggggttatcacagagaaaggag -3'
(R):5'- CTTTGGTGGTGCCTTTAAATACTATG -3'

Posted On

2013-07-11