Mutagenetix > Incidental Mutation

Incidental Mutation 'R4619:Mipep'

345198

Institutional Source

Beutler Lab

Gene Symbol

Mipep

Ensembl Gene

ENSMUSG00000021993

Gene Name

mitochondrial intermediate peptidase

Synonyms

5730405E07Rik

MMRRC Submission

041885-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61022022-61142927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61140865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 566 (C566R)

Ref Sequence

ENSEMBL: ENSMUSP00000153374 (fasta)

Gene Model

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

AlphaFold

A6H611

Predicted Effect

probably benign
Transcript: ENSMUST00000063562
AA Change: V696A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
AA Change: V696A

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

probably benign
Transcript: ENSMUST00000224635
AA Change: V696A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225506
AA Change: C566R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (74/74)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,775,520 (GRCm39)	V1570I	probably damaging	Het
Alx4	A	G	2: 93,473,106 (GRCm39)	R35G	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
Atp8b3	G	A	10: 80,361,858 (GRCm39)	T731I	possibly damaging	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Cdh15	G	A	8: 123,587,612 (GRCm39)	D179N	probably damaging	Het
Cntnap5c	G	T	17: 58,717,263 (GRCm39)	V1282L	probably benign	Het
Crocc2	G	A	1: 93,141,372 (GRCm39)	R1175H	probably benign	Het
Dbh	A	G	2: 27,064,836 (GRCm39)	D349G	probably damaging	Het
Dync1h1	A	G	12: 110,605,278 (GRCm39)	I2372V	probably benign	Het
Fer1l4	A	T	2: 155,889,007 (GRCm39)	W389R	probably damaging	Het
Fndc1	T	C	17: 7,984,036 (GRCm39)	T1297A	unknown	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
Gm5591	G	A	7: 38,220,072 (GRCm39)	S267L	probably benign	Het
Gzmk	A	G	13: 113,309,657 (GRCm39)	V92A	probably damaging	Het
Hspg2	C	T	4: 137,273,884 (GRCm39)	R2680W	probably damaging	Het
Insyn2a	A	G	7: 134,520,270 (GRCm39)	Y87H	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kcnk7	A	C	19: 5,756,463 (GRCm39)	I230L	probably benign	Het
Kif3b	C	T	2: 153,158,594 (GRCm39)	R132*	probably null	Het
Klra5	T	C	6: 129,885,776 (GRCm39)	S128G	probably benign	Het
Krba1	C	T	6: 48,383,282 (GRCm39)	R4*	probably null	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Lss	A	G	10: 76,372,089 (GRCm39)	D148G	probably benign	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Myocd	T	A	11: 65,069,254 (GRCm39)		probably benign	Het
Ndufa9	C	T	6: 126,804,498 (GRCm39)		probably null	Het
Nolc1	G	A	19: 46,071,959 (GRCm39)	G583D	probably damaging	Het
Nucb2	T	C	7: 116,127,059 (GRCm39)		probably null	Het
Or1i2	T	C	10: 78,448,409 (GRCm39)	D22G	probably benign	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or5p63	A	T	7: 107,811,301 (GRCm39)	I145N	possibly damaging	Het
Pank4	C	A	4: 155,061,076 (GRCm39)	D508E	probably benign	Het
Phb1	T	A	11: 95,562,416 (GRCm39)		probably benign	Het
Pign	T	A	1: 105,449,715 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,076,382 (GRCm39)	K349E	probably benign	Het
Ppp1r3c	A	T	19: 36,711,743 (GRCm39)	V9E	possibly damaging	Het
Rap1gap	T	A	4: 137,443,422 (GRCm39)	V130D	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Serpina3f	T	C	12: 104,183,549 (GRCm39)	I137T	possibly damaging	Het
Slc46a3	T	A	5: 147,823,540 (GRCm39)	K101*	probably null	Het
Snph	G	A	2: 151,436,434 (GRCm39)	Q96*	probably null	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Ssc5d	A	T	7: 4,932,524 (GRCm39)	H396L	probably damaging	Het
Sulf1	A	C	1: 12,856,876 (GRCm39)	R42S	probably damaging	Het
Taf1a	T	A	1: 183,181,752 (GRCm39)		probably benign	Het
Thoc5	T	A	11: 4,876,218 (GRCm39)	M609K	probably damaging	Het
Tiam2	A	T	17: 3,568,617 (GRCm39)	I1588F	probably damaging	Het
Tmcc1	C	T	6: 116,020,247 (GRCm39)	V402I	probably damaging	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trbv31	T	C	6: 41,534,901 (GRCm39)	I21V	probably benign	Het
Vmn1r74	A	T	7: 11,581,398 (GRCm39)	T233S	possibly damaging	Het
Vmn1r74	G	C	7: 11,581,403 (GRCm39)	Q234H	probably damaging	Het
Vsx1	A	T	2: 150,530,529 (GRCm39)	S118T	probably benign	Het
Wnt9b	G	A	11: 103,621,949 (GRCm39)	T236I	probably benign	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zc3hc1	G	A	6: 30,387,523 (GRCm39)	T52I	probably benign	Het
Zfp558	T	A	9: 18,367,577 (GRCm39)	N404Y	possibly damaging	Het
Zfp735	A	T	11: 73,602,031 (GRCm39)	D325V	probably damaging	Het
Zhx3	A	T	2: 160,623,879 (GRCm39)	M96K	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
R0635:Mipep	UTSW	14	61,066,839 (GRCm39)	missense	probably damaging	0.97
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
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'- AAAGTCACGAACAGCTCAGGTC -3'
(R):5'- TGAGTCCTGTCAATTTAAGGCTTG -3'

Sequencing Primer
(F):5'- GAACAGCTCAGGTCATGGACTC -3'
(R):5'- GGCTTGTCAGAAAATGTCTCCTCAG -3'

Posted On

2015-09-25