Mutagenetix > Incidental Mutation

Incidental Mutation 'R4416:Grpel1'

326832

Institutional Source

Beutler Lab

Gene Symbol

Grpel1

Ensembl Gene

ENSMUSG00000029198

Gene Name

GrpE-like 1, mitochondrial

Synonyms

mt-GrpE#1

MMRRC Submission

041137-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R4416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36464998-36474080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36471272 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 175 (H175R)

Ref Sequence

ENSEMBL: ENSMUSP00000031099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031097] [ENSMUST00000031099] [ENSMUST00000119916]

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 damaging
Transcript: ENSMUST00000031099
AA Change: H175R

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

SMART Domains

Protein: ENSMUSP00000031099
Gene: ENSMUSG00000029198
AA Change: H175R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119916

SMART Domains

Protein: ENSMUSP00000114124
Gene: ENSMUSG00000029196

Domain	Start	End	E-Value	Type
Blast:SANT	16	41	2e-10	BLAST
low complexity region	63	79	N/A	INTRINSIC
low complexity region	158	185	N/A	INTRINSIC
low complexity region	231	250	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
4933412E24Rik	T	A	15: 60,016,423	E56V	possibly damaging	Het
Adam28	A	G	14: 68,622,082		probably null	Het
Bnc1	G	T	7: 81,968,960	H786N	probably benign	Het
Cav1	T	A	6: 17,339,249	M100K	probably benign	Het
Cdk9	A	G	2: 32,708,072	L273P	probably damaging	Het
Celsr1	A	G	15: 85,927,999	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,038,259	Q484R	probably benign	Het
Elfn1	T	C	5: 139,972,194	S318P	possibly damaging	Het
Fam160b1	G	T	19: 57,385,397		probably null	Het
Fbxl6	T	C	15: 76,537,724	E205G	possibly damaging	Het
Frmd6	T	A	12: 70,877,249	Y94N	probably benign	Het
Gdpd1	A	T	11: 87,035,288	V277D	probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Grik1	C	A	16: 88,051,461	V140L	probably benign	Het
Gtdc1	G	T	2: 44,575,590		probably null	Het
Hivep2	A	T	10: 14,129,170	Q504L	probably benign	Het
Icos	A	T	1: 60,994,690	I160L	probably benign	Het
Igsf9b	G	T	9: 27,322,917	C442F	probably damaging	Het
Itga10	T	C	3: 96,658,246	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,663,667	V386I	unknown	Het
Lrp2	G	T	2: 69,527,231	F409L	probably benign	Het
Nadk	T	G	4: 155,587,726	Y291*	probably null	Het
Nudt6	A	T	3: 37,405,229		probably null	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr694	G	A	7: 106,689,011	T240I	probably benign	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Olfr974	A	G	9: 39,942,428	H56R	probably damaging	Het
Pds5b	C	T	5: 150,736,396	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,040,580	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,461,530	V784A	probably damaging	Het
Polr3e	T	C	7: 120,939,057		probably null	Het
Rab3gap2	A	T	1: 185,282,347	D1231V	probably benign	Het
Rapgef2	C	A	3: 79,069,057	G1481*	probably null	Het
Rho	G	A	6: 115,935,230	V76I	probably benign	Het
Rrm1	A	G	7: 102,447,801	D96G	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Srp9	A	T	1: 182,131,411	M50L	probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Sult1d1	A	G	5: 87,558,576	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,081,902	T567R	probably benign	Het
Tmf1	G	T	6: 97,178,988	F12L	probably damaging	Het
Ush2a	T	C	1: 188,356,874	I342T	probably damaging	Het
Veph1	A	T	3: 66,061,185	N712K	probably damaging	Het
Vti1a	T	G	19: 55,380,948	S91A	probably benign	Het

Other mutations in Grpel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01477:Grpel1	APN	5	36470642	missense	probably damaging	1.00
R3689:Grpel1	UTSW	5	36469425	splice site	probably null
R3826:Grpel1	UTSW	5	36469483	missense	probably benign	0.14
R3827:Grpel1	UTSW	5	36469483	missense	probably benign	0.14
R3829:Grpel1	UTSW	5	36469483	missense	probably benign	0.14
R3830:Grpel1	UTSW	5	36469483	missense	probably benign	0.14
R5751:Grpel1	UTSW	5	36469467	missense	probably benign	0.03
R5768:Grpel1	UTSW	5	36465159	start gained	probably benign
R5997:Grpel1	UTSW	5	36465248	missense	probably benign
R6764:Grpel1	UTSW	5	36465225	missense	probably benign
R7760:Grpel1	UTSW	5	36470642	missense	probably damaging	0.97
R8066:Grpel1	UTSW	5	36469545	missense	probably benign	0.04
R8441:Grpel1	UTSW	5	36465212	missense	probably benign
R8881:Grpel1	UTSW	5	36469472	missense	possibly damaging	0.63
R9094:Grpel1	UTSW	5	36469479	missense	probably benign	0.11
R9323:Grpel1	UTSW	5	36470663	missense	possibly damaging	0.94
Z1088:Grpel1	UTSW	5	36470614	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCAGGCATCCAGGGTTTC -3'
(R):5'- CGAGTTCTAGCAAGTGACCTAC -3'

Sequencing Primer
(F):5'- ATCCAGGGTTTCTGCAAGGAC -3'
(R):5'- GTTCTAGCAAGTGACCTACAAAGTC -3'

Posted On

2015-07-07