Mutagenetix > Incidental Mutation

Incidental Mutation 'R8441:Grpel1'

654202

Institutional Source

Beutler Lab

Gene Symbol

Grpel1

Ensembl Gene

ENSMUSG00000029198

Gene Name

GrpE-like 1, mitochondrial

Synonyms

mt-GrpE#1

MMRRC Submission

067885-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R8441 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36622529-36631421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36622556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 7 (R7G)

Ref Sequence

ENSEMBL: ENSMUSP00000031099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031099]

AlphaFold

Q99LP6

Predicted Effect

probably benign
Transcript: ENSMUST00000031099
AA Change: R7G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031099
Gene: ENSMUSG00000029198
AA Change: R7G

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
Pfam:GrpE	32	215	5.3e-45	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,087,574 (GRCm39)	Y1064H	possibly damaging	Het
Ahrr	T	C	13: 74,362,182 (GRCm39)	D567G	probably benign	Het
Aldh1b1	T	A	4: 45,802,465 (GRCm39)	M1K	probably null	Het
Ankrd12	A	T	17: 66,349,546 (GRCm39)	S96T	probably benign	Het
Arhgef10	A	T	8: 15,041,237 (GRCm39)		probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cmpk2	G	A	12: 26,527,204 (GRCm39)	A398T	probably benign	Het
Cpn2	A	G	16: 30,078,849 (GRCm39)	L284P	probably damaging	Het
Cubn	T	C	2: 13,432,658 (GRCm39)	D1221G	probably damaging	Het
Dnah7c	A	G	1: 46,572,398 (GRCm39)	K957R	probably damaging	Het
Eif1ad2	T	G	12: 87,786,384 (GRCm39)	D98E	probably benign	Het
Flnb	T	A	14: 7,896,488 (GRCm38)	V893E	probably benign	Het
Flrt3	C	A	2: 140,502,546 (GRCm39)	V361L	probably benign	Het
Fnta	G	A	8: 26,501,209 (GRCm39)	R104*	probably null	Het
Ggt1	C	T	10: 75,415,185 (GRCm39)	T233I	possibly damaging	Het
Gpr37l1	A	T	1: 135,094,875 (GRCm39)	V123E	probably damaging	Het
H2-M10.5	A	T	17: 37,084,199 (GRCm39)	I54L	probably benign	Het
Mapk8ip3	A	T	17: 25,139,474 (GRCm39)		probably benign	Het
Mcm3	T	C	1: 20,884,690 (GRCm39)	D271G	probably benign	Het
Naip6	A	G	13: 100,422,265 (GRCm39)	V1256A	possibly damaging	Het
Nipbl	A	G	15: 8,322,599 (GRCm39)	V2604A	probably benign	Het
Nlrp1b	T	A	11: 71,073,204 (GRCm39)	D213V	probably damaging	Het
Npbwr1	G	A	1: 5,987,397 (GRCm39)	A39V	possibly damaging	Het
Nr6a1	T	C	2: 38,632,888 (GRCm39)	D191G	probably benign	Het
Olfml1	T	G	7: 107,166,977 (GRCm39)	V2G	probably benign	Het
Or4k38	A	T	2: 111,166,131 (GRCm39)	Y97*	probably null	Het
Or5b105	T	A	19: 13,080,020 (GRCm39)	Y216F	probably damaging	Het
Otof	T	C	5: 30,538,200 (GRCm39)	K1175E	probably damaging	Het
Pira13	C	A	7: 3,826,301 (GRCm39)	E231*	probably null	Het
Plekhg2	C	T	7: 28,060,291 (GRCm39)	V989I	probably benign	Het
Prkcq	A	G	2: 11,253,037 (GRCm39)	D229G	probably benign	Het
Ptprf	A	T	4: 118,075,255 (GRCm39)		probably benign	Het
Rest	G	T	5: 77,429,766 (GRCm39)	Q728H	possibly damaging	Het
Scube1	A	T	15: 83,494,423 (GRCm39)	I868N	probably damaging	Het
Spcs3	A	G	8: 54,981,375 (GRCm39)		probably null	Het
Speg	A	G	1: 75,387,976 (GRCm39)	S1445G	possibly damaging	Het
Spmap2	C	A	10: 79,412,510 (GRCm39)	R327L	probably damaging	Het
Tmem145	T	C	7: 25,008,200 (GRCm39)	F261S	possibly damaging	Het
Trav9d-4	A	G	14: 53,221,284 (GRCm39)	S93G	probably benign	Het
Trbv5	T	A	6: 41,039,517 (GRCm39)	C41S	probably damaging	Het
Trpm5	A	G	7: 142,626,171 (GRCm39)	S1131P	possibly damaging	Het
Ttc28	C	T	5: 111,325,507 (GRCm39)	R313*	probably null	Het
Ubap2l	T	C	3: 89,920,007 (GRCm39)	T853A	unknown	Het
Xirp2	T	C	2: 67,343,159 (GRCm39)	V1800A	possibly damaging	Het
Zfhx2	A	G	14: 55,303,985 (GRCm39)	L1333P	possibly damaging	Het

Other mutations in Grpel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01477:Grpel1	APN	5	36,627,986 (GRCm39)	missense	probably damaging	1.00
R3689:Grpel1	UTSW	5	36,626,769 (GRCm39)	splice site	probably null
R3826:Grpel1	UTSW	5	36,626,827 (GRCm39)	missense	probably benign	0.14
R3827:Grpel1	UTSW	5	36,626,827 (GRCm39)	missense	probably benign	0.14
R3829:Grpel1	UTSW	5	36,626,827 (GRCm39)	missense	probably benign	0.14
R3830:Grpel1	UTSW	5	36,626,827 (GRCm39)	missense	probably benign	0.14
R4416:Grpel1	UTSW	5	36,628,616 (GRCm39)	missense	probably damaging	1.00
R5751:Grpel1	UTSW	5	36,626,811 (GRCm39)	missense	probably benign	0.03
R5768:Grpel1	UTSW	5	36,622,503 (GRCm39)	start gained	probably benign
R5997:Grpel1	UTSW	5	36,622,592 (GRCm39)	missense	probably benign
R6764:Grpel1	UTSW	5	36,622,569 (GRCm39)	missense	probably benign
R7760:Grpel1	UTSW	5	36,627,986 (GRCm39)	missense	probably damaging	0.97
R8066:Grpel1	UTSW	5	36,626,889 (GRCm39)	missense	probably benign	0.04
R8881:Grpel1	UTSW	5	36,626,816 (GRCm39)	missense	possibly damaging	0.63
R9094:Grpel1	UTSW	5	36,626,823 (GRCm39)	missense	probably benign	0.11
R9323:Grpel1	UTSW	5	36,628,007 (GRCm39)	missense	possibly damaging	0.94
Z1088:Grpel1	UTSW	5	36,627,958 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCACAGAAGCTCCATTTTC -3'
(R):5'- ACTCGATGGTGAGGATGTGAC -3'

Sequencing Primer
(F):5'- GGAAACAGAATTCCGTCATGACTCG -3'
(R):5'- ATGTGACTTCAGGGTGCAC -3'

Posted On

2020-10-20