Mutagenetix > Incidental Mutation

Incidental Mutation 'R3830:Grpel1'

273940

Institutional Source

Beutler Lab

Gene Symbol

Grpel1

Ensembl Gene

ENSMUSG00000029198

Gene Name

GrpE-like 1, mitochondrial

Synonyms

mt-GrpE#1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R3830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36622529-36631421 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36626827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 36 (N36K)

Ref Sequence

ENSEMBL: ENSMUSP00000031099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031097] [ENSMUST00000031099]

AlphaFold

Q99LP6

Predicted Effect

probably benign
Transcript: ENSMUST00000031097

SMART Domains

Protein: ENSMUSP00000031097
Gene: ENSMUSG00000029196

Domain	Start	End	E-Value	Type
ZnF_ZZ	3	46	2.64e-5	SMART
SANT	66	116	1.75e-9	SMART
low complexity region	138	154	N/A	INTRINSIC
low complexity region	233	260	N/A	INTRINSIC
low complexity region	306	325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000031099
AA Change: N36K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031099
Gene: ENSMUSG00000029198
AA Change: N36K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000044964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151434

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agpat5	A	G	8: 18,929,621 (GRCm39)	E250G	probably benign	Het
Aox4	A	T	1: 58,294,670 (GRCm39)	T960S	probably damaging	Het
Bach2	T	A	4: 32,563,150 (GRCm39)	L539H	probably damaging	Het
Capn1	A	T	19: 6,044,877 (GRCm39)	L465Q	probably damaging	Het
Cd300c	A	G	11: 114,850,453 (GRCm39)	F117L	probably benign	Het
Cep104	T	G	4: 154,069,400 (GRCm39)	M207R	probably damaging	Het
Chd2	A	G	7: 73,141,163 (GRCm39)	Y577H	possibly damaging	Het
Col4a1	C	A	8: 11,259,650 (GRCm39)	G1341V	probably damaging	Het
Cplane2	C	T	4: 140,945,900 (GRCm39)	R148C	probably damaging	Het
Cspg4	T	G	9: 56,804,905 (GRCm39)	D1905E	probably damaging	Het
Dhx37	T	C	5: 125,508,677 (GRCm39)	K86R	probably benign	Het
Drd2	T	A	9: 49,313,443 (GRCm39)	V204D	probably damaging	Het
Gclc	A	T	9: 77,699,242 (GRCm39)	I520L	probably benign	Het
Gpat3	A	G	5: 101,032,252 (GRCm39)	D183G	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Gprin3	T	C	6: 59,330,618 (GRCm39)	E563G	probably benign	Het
Grm8	A	T	6: 27,761,228 (GRCm39)	L332*	probably null	Het
Hecw1	C	T	13: 14,520,643 (GRCm39)	S198N	probably benign	Het
Kcna2	T	C	3: 107,012,112 (GRCm39)	I231T	probably benign	Het
Lpcat1	T	C	13: 73,637,212 (GRCm39)	I114T	possibly damaging	Het
Mast4	G	T	13: 102,875,319 (GRCm39)	H1350N	probably damaging	Het
Ncor2	T	C	5: 125,195,756 (GRCm39)		probably benign	Het
Ntn1	C	G	11: 68,276,619 (GRCm39)	D110H	probably damaging	Het
Or2b11	G	T	11: 59,462,427 (GRCm39)	N46K	probably damaging	Het
Pigb	T	C	9: 72,924,755 (GRCm39)	N468S	probably benign	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Plekhg1	A	G	10: 3,823,400 (GRCm39)	T123A	probably damaging	Het
Ptges3l	T	C	11: 101,312,443 (GRCm39)	*67W	probably null	Het
Rgs12	G	A	5: 35,123,359 (GRCm39)	V381M	possibly damaging	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Six2	G	T	17: 85,992,615 (GRCm39)	S296Y	probably damaging	Het
Slc5a12	T	A	2: 110,463,081 (GRCm39)	C392*	probably null	Het
Snx5	A	T	2: 144,096,821 (GRCm39)		probably null	Het
Svep1	A	G	4: 58,096,177 (GRCm39)	L1481P	probably damaging	Het
Tspan18	T	C	2: 93,050,453 (GRCm39)	I57V	probably benign	Het
Ube3b	C	A	5: 114,538,012 (GRCm39)	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,466,269 (GRCm39)	K2142N	probably damaging	Het
Zfp729a	A	T	13: 67,767,997 (GRCm39)	F744Y	probably 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
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
R8441:Grpel1	UTSW	5	36,622,556 (GRCm39)	missense	probably benign
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'- GGGCTTGCATATCTGTACAATG -3'
(R):5'- TCTGTGAACTTGGCCCATGC -3'

Sequencing Primer
(F):5'- CATGTGGGTCCTGCAAATAGAACTC -3'
(R):5'- CAGGCAGCAATCCAGCAGTG -3'

Posted On

2015-04-02