Mutagenetix > Incidental Mutation

Incidental Mutation 'R6233:Mipep'

504780

Institutional Source

Beutler Lab

Gene Symbol

Mipep

Ensembl Gene

ENSMUSG00000021993

Gene Name

mitochondrial intermediate peptidase

Synonyms

5730405E07Rik

MMRRC Submission

044361-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61022022-61142927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61109554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 644 (W644R)

Ref Sequence

ENSEMBL: ENSMUSP00000153502 (fasta)

Gene Model

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

AlphaFold

A6H611

Predicted Effect

probably damaging
Transcript: ENSMUST00000063562
AA Change: W644R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069840
Gene: ENSMUSG00000021993
AA Change: W644R

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 damaging
Transcript: ENSMUST00000224635
AA Change: W644R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225506

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	A	2: 58,338,411 (GRCm39)	N437I	probably benign	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgrg7	T	A	16: 56,599,005 (GRCm39)	T57S	possibly damaging	Het
Agbl2	T	A	2: 90,643,657 (GRCm39)	D792E	probably benign	Het
Ankrd9	A	T	12: 110,943,554 (GRCm39)	I160N	probably damaging	Het
Aoc1l2	A	G	6: 48,907,899 (GRCm39)	T300A	probably benign	Het
Baz2b	T	A	2: 59,737,855 (GRCm39)	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,616,740 (GRCm39)	*174Q	probably null	Het
Cacna1a	A	G	8: 85,315,382 (GRCm39)	Y1539C	probably damaging	Het
Clmn	A	C	12: 104,751,714 (GRCm39)	L247R	probably damaging	Het
Cyp1b1	G	T	17: 80,021,695 (GRCm39)	L16M	probably damaging	Het
Dhrs7l	T	C	12: 72,666,341 (GRCm39)	Y110C	probably damaging	Het
Dhx29	T	A	13: 113,101,071 (GRCm39)	S1205T	probably benign	Het
Dmkn	C	A	7: 30,479,104 (GRCm39)	A280E	probably damaging	Het
Dnah7b	G	A	1: 46,243,429 (GRCm39)	D1578N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsc3	C	T	18: 20,098,852 (GRCm39)	G776R	possibly damaging	Het
Eefsec	A	G	6: 88,335,526 (GRCm39)		probably null	Het
Efhb	A	G	17: 53,769,580 (GRCm39)	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 79,178,662 (GRCm39)	Y137*	probably null	Het
Eny2	A	G	15: 44,297,056 (GRCm39)		probably null	Het
F2rl3	A	G	8: 73,489,513 (GRCm39)	T247A	probably benign	Het
Fan1	A	T	7: 64,004,119 (GRCm39)	H782Q	probably damaging	Het
Fbxo28	A	G	1: 182,169,073 (GRCm39)	S22P	unknown	Het
Fcgbpl1	T	C	7: 27,830,885 (GRCm39)	C33R	probably damaging	Het
Fcrlb	A	G	1: 170,736,458 (GRCm39)	I106T	probably damaging	Het
Fer1l5	T	C	1: 36,414,367 (GRCm39)		probably null	Het
Fgfbp1	T	C	5: 44,136,704 (GRCm39)	D196G	possibly damaging	Het
Gab1	A	T	8: 81,606,161 (GRCm39)	Y24*	probably null	Het
Gcc2	T	C	10: 58,106,806 (GRCm39)	S681P	probably damaging	Het
Git2	T	C	5: 114,905,175 (GRCm39)	N94S	probably benign	Het
Gm5799	T	G	14: 43,782,088 (GRCm39)	L87V	probably damaging	Het
Gna12	A	G	5: 140,746,447 (GRCm39)	F333L	possibly damaging	Het
Gria2	A	G	3: 80,614,510 (GRCm39)	I510T	probably damaging	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Il1rap	A	G	16: 26,529,256 (GRCm39)	T310A	probably benign	Het
Itpr3	T	C	17: 27,305,934 (GRCm39)	I164T	probably damaging	Het
Kcnk4	T	C	19: 6,905,697 (GRCm39)	N90S	probably benign	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Lamc1	A	T	1: 153,099,412 (GRCm39)	D1520E	probably benign	Het
Lrrc37	A	T	11: 103,504,214 (GRCm39)	L2585I	probably damaging	Het
Mycl	A	G	4: 122,893,713 (GRCm39)	D171G	probably damaging	Het
Myh7b	C	T	2: 155,473,719 (GRCm39)	A1584V	possibly damaging	Het
Nf1	A	G	11: 79,456,801 (GRCm39)	Y629C	probably damaging	Het
Obscn	T	A	11: 58,888,033 (GRCm39)	E2164V	probably damaging	Het
Or52h1	A	T	7: 103,828,961 (GRCm39)	V218D	possibly damaging	Het
Or5b118	T	C	19: 13,449,104 (GRCm39)	Y257H	probably damaging	Het
Or5w19	T	C	2: 87,698,904 (GRCm39)	S190P	possibly damaging	Het
Or6c209	T	C	10: 129,483,165 (GRCm39)	M56T	probably benign	Het
Or8k25	T	C	2: 86,243,551 (GRCm39)	I282V	probably damaging	Het
Pcdh20	T	C	14: 88,705,488 (GRCm39)	E604G	probably benign	Het
Pilra	T	C	5: 137,821,763 (GRCm39)	T291A	possibly damaging	Het
Ppp1r9a	G	T	6: 5,077,610 (GRCm39)	D630Y	probably damaging	Het
Pros1	A	C	16: 62,719,284 (GRCm39)	Q102P	possibly damaging	Het
Rad21l	T	C	2: 151,495,462 (GRCm39)	D407G	probably benign	Het
Rapgef5	G	A	12: 117,703,453 (GRCm39)		probably null	Het
Rbm25	G	A	12: 83,706,200 (GRCm39)	A182T	probably benign	Het
Rnf13	A	G	3: 57,740,391 (GRCm39)	E236G	possibly damaging	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsrp1	T	A	4: 134,654,113 (GRCm39)	I255K	probably damaging	Het
Scn1a	T	A	2: 66,107,962 (GRCm39)	Y1588F	possibly damaging	Het
Sdr16c6	T	A	4: 4,069,984 (GRCm39)	I119F	probably damaging	Het
Shoc1	T	A	4: 59,076,245 (GRCm39)	D566V	possibly damaging	Het
Slc12a7	T	C	13: 73,953,590 (GRCm39)	S767P	possibly damaging	Het
Slc23a1	A	G	18: 35,757,497 (GRCm39)	I258T	probably damaging	Het
Spata13	G	A	14: 60,929,456 (GRCm39)	R338H	probably benign	Het
Sufu	G	A	19: 46,464,071 (GRCm39)	G428R	probably damaging	Het
Sult2a1	T	C	7: 13,566,600 (GRCm39)	D125G	probably damaging	Het
Tapbp	T	C	17: 34,138,956 (GRCm39)	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,101,391 (GRCm39)	K40*	probably null	Het
Tdrd6	A	G	17: 43,940,643 (GRCm39)	V135A	probably damaging	Het
Tenm3	A	C	8: 48,870,094 (GRCm39)	V233G	probably damaging	Het
Tmem87a	A	T	2: 120,222,656 (GRCm39)		probably null	Het
Tspan11	T	C	6: 127,915,227 (GRCm39)	Y114H	probably damaging	Het
Ttn	T	A	2: 76,567,997 (GRCm39)	Y27632F	probably benign	Het
Usp44	G	A	10: 93,686,202 (GRCm39)	C539Y	probably damaging	Het
Vmn2r73	G	A	7: 85,519,099 (GRCm39)	P508S	probably benign	Het
Zfp831	A	G	2: 174,488,490 (GRCm39)	D1055G	possibly damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	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
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
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'- TGACAATGGTGATACTGTGACG -3'
(R):5'- TGGCCAGGACCACAAAGTTG -3'

Sequencing Primer
(F):5'- CAATGGTGATACTGTGACGTGACTC -3'
(R):5'- TGTAAGCAACTGCCATTGGATGC -3'

Posted On

2018-02-28