Mutagenetix > Incidental Mutation

Incidental Mutation 'R7541:Mrps7'

583904

Institutional Source

Beutler Lab

Gene Symbol

Mrps7

Ensembl Gene

ENSMUSG00000046756

Gene Name

mitchondrial ribosomal protein S7

Synonyms

MRP-S7, Rpms7

MMRRC Submission

045613-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115494966-115498862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 115497696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 187 (M187R)

Ref Sequence

ENSEMBL: ENSMUSP00000053033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019135] [ENSMUST00000021087] [ENSMUST00000058109] [ENSMUST00000106506] [ENSMUST00000106507] [ENSMUST00000106508] [ENSMUST00000125097] [ENSMUST00000148574] [ENSMUST00000156173]

AlphaFold

Q80X85

Predicted Effect

probably benign
Transcript: ENSMUST00000019135

SMART Domains

Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740

Domain	Start	End	E-Value	Type
VHS	9	142	9.36e-55	SMART
low complexity region	174	185	N/A	INTRINSIC
Pfam:GAT	222	299	1.7e-20	PFAM
low complexity region	334	369	N/A	INTRINSIC
low complexity region	383	395	N/A	INTRINSIC
low complexity region	455	471	N/A	INTRINSIC
low complexity region	483	498	N/A	INTRINSIC
low complexity region	532	554	N/A	INTRINSIC
Alpha_adaptinC2	586	710	6.09e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021087

SMART Domains

Protein: ENSMUSP00000021087
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	205	1.4e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000058109
AA Change: M187R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053033
Gene: ENSMUSG00000046756
AA Change: M187R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Ribosomal_S7	68	234	7.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106506

SMART Domains

Protein: ENSMUSP00000102115
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	186	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106507

SMART Domains

Protein: ENSMUSP00000102116
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	204	3.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106508

SMART Domains

Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740

Domain	Start	End	E-Value	Type
VHS	9	142	9.36e-55	SMART
low complexity region	174	185	N/A	INTRINSIC
Pfam:GAT	206	307	1.3e-32	PFAM
low complexity region	377	393	N/A	INTRINSIC
low complexity region	405	420	N/A	INTRINSIC
low complexity region	454	476	N/A	INTRINSIC
Alpha_adaptinC2	508	632	6.09e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125097

SMART Domains

Protein: ENSMUSP00000118024
Gene: ENSMUSG00000020740

Domain	Start	End	E-Value	Type
Pfam:VHS	3	106	3.4e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148574

SMART Domains

Protein: ENSMUSP00000119643
Gene: ENSMUSG00000020743

Domain	Start	End	E-Value	Type
Pfam:MIF4G	4	162	1.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156173

SMART Domains

Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740

Domain	Start	End	E-Value	Type
VHS	9	142	9.36e-55	SMART
low complexity region	174	185	N/A	INTRINSIC
Pfam:GAT	206	307	7.3e-32	PFAM
low complexity region	334	369	N/A	INTRINSIC
low complexity region	383	395	N/A	INTRINSIC
low complexity region	455	471	N/A	INTRINSIC
low complexity region	483	498	N/A	INTRINSIC
low complexity region	532	554	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,416,610 (GRCm39)		probably null	Het
Adamts10	G	A	17: 33,750,590 (GRCm39)	R210H	probably benign	Het
Als2	T	C	1: 59,206,775 (GRCm39)		probably null	Het
Aplp2	A	T	9: 31,063,652 (GRCm39)	M652K	possibly damaging	Het
Atrn	A	G	2: 130,803,491 (GRCm39)	I560M	possibly damaging	Het
Bicc1	T	C	10: 70,782,434 (GRCm39)	D602G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Cd200l2	T	A	16: 45,348,855 (GRCm39)	T106S	possibly damaging	Het
Cdh4	A	G	2: 179,086,603 (GRCm39)		probably null	Het
Clasp1	T	A	1: 118,470,727 (GRCm39)		probably null	Het
Col6a6	A	G	9: 105,644,523 (GRCm39)	I1255T	probably damaging	Het
Comp	G	T	8: 70,834,000 (GRCm39)	V672L	probably damaging	Het
Dbnl	T	G	11: 5,745,486 (GRCm39)	D122E	probably damaging	Het
Dgkz	G	A	2: 91,773,020 (GRCm39)	R346C	probably damaging	Het
Dnhd1	C	T	7: 105,327,516 (GRCm39)	R54C	probably damaging	Het
Elmo3	T	C	8: 106,033,346 (GRCm39)	I121T	probably damaging	Het
Fam184b	A	G	5: 45,699,574 (GRCm39)	L614P	probably damaging	Het
Fbh1	T	C	2: 11,754,348 (GRCm39)	R797G	probably benign	Het
Fcgbpl1	T	A	7: 27,843,681 (GRCm39)	C856*	probably null	Het
Gata6	A	G	18: 11,059,108 (GRCm39)	T392A	probably damaging	Het
Gm29609	A	G	5: 31,311,576 (GRCm39)	F855S	probably benign	Het
Gm3424	T	C	14: 17,337,195 (GRCm39)	N88D	possibly damaging	Het
Gnas	T	A	2: 174,139,892 (GRCm39)	S80T	unknown	Het
Hsd17b14	C	A	7: 45,215,570 (GRCm39)	P190Q	probably damaging	Het
Iqch	C	T	9: 63,352,803 (GRCm39)	V955I	possibly damaging	Het
Kcnt2	T	C	1: 140,304,122 (GRCm39)	V164A	probably benign	Het
Krt87	A	G	15: 101,336,515 (GRCm39)	L46P	probably damaging	Het
Lef1	A	G	3: 130,984,748 (GRCm39)	M237V	probably benign	Het
Lmbr1l	A	T	15: 98,807,267 (GRCm39)		probably null	Het
Lrrc49	T	C	9: 60,517,686 (GRCm39)	I408V	probably damaging	Het
Luc7l3	T	C	11: 94,186,791 (GRCm39)	S365G	unknown	Het
Marchf2	A	T	17: 33,922,032 (GRCm39)	C109*	probably null	Het
Metrnl	T	A	11: 121,606,796 (GRCm39)	C284S	probably damaging	Het
Mmachc	G	A	4: 116,563,082 (GRCm39)	T91I	probably benign	Het
Ncapd3	A	G	9: 26,978,336 (GRCm39)	E845G	probably damaging	Het
Nscme3l	G	A	19: 5,553,439 (GRCm39)	P114L	probably benign	Het
Ooep	T	A	9: 78,285,347 (GRCm39)	T90S	possibly damaging	Het
Or13c25	A	T	4: 52,911,376 (GRCm39)	D139E	probably benign	Het
Or2y1g	T	A	11: 49,171,160 (GRCm39)	F62I	probably damaging	Het
Pcdhb18	A	T	18: 37,624,662 (GRCm39)	D664V	probably damaging	Het
Pigz	T	C	16: 31,763,949 (GRCm39)	S336P	probably benign	Het
Pou2f2	A	T	7: 24,815,553 (GRCm39)	D71E	probably benign	Het
Reep6	G	T	10: 80,171,033 (GRCm39)	R303L	possibly damaging	Het
Rmdn2	A	T	17: 79,935,297 (GRCm39)	S137C		Het
Rnf220	A	T	4: 117,347,127 (GRCm39)	L95H	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Stxbp1	A	T	2: 32,708,517 (GRCm39)	S83T	probably damaging	Het
Tcstv7b	A	T	13: 120,702,515 (GRCm39)	M104L	probably benign	Het
Trappc11	T	C	8: 47,958,617 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,621,645 (GRCm39)	D15598E	probably damaging	Het
Vav2	T	A	2: 27,165,014 (GRCm39)	R645W	probably damaging	Het
Vmn1r169	T	A	7: 23,277,412 (GRCm39)	V268D	probably benign	Het
Zp2	A	T	7: 119,735,279 (GRCm39)	C365S	probably damaging	Het

Other mutations in Mrps7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Mrps7	APN	11	115,495,684 (GRCm39)	missense	possibly damaging	0.78
IGL02928:Mrps7	APN	11	115,495,910 (GRCm39)	nonsense	probably null
R1494:Mrps7	UTSW	11	115,494,952 (GRCm39)	unclassified	probably benign
R1501:Mrps7	UTSW	11	115,495,023 (GRCm39)	missense	probably benign	0.00
R1651:Mrps7	UTSW	11	115,495,581 (GRCm39)	nonsense	probably null
R1830:Mrps7	UTSW	11	115,497,811 (GRCm39)	missense	probably benign	0.01
R2895:Mrps7	UTSW	11	115,495,865 (GRCm39)	missense	probably benign	0.01
R5155:Mrps7	UTSW	11	115,495,655 (GRCm39)	nonsense	probably null
R6076:Mrps7	UTSW	11	115,495,713 (GRCm39)	missense	probably damaging	0.99
R6144:Mrps7	UTSW	11	115,495,000 (GRCm39)	missense	probably benign	0.43
R6180:Mrps7	UTSW	11	115,495,707 (GRCm39)	missense	possibly damaging	0.95
R7421:Mrps7	UTSW	11	115,495,717 (GRCm39)	missense	probably benign	0.22
R7697:Mrps7	UTSW	11	115,495,701 (GRCm39)	missense	probably benign	0.00
R7981:Mrps7	UTSW	11	115,497,687 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- CTGCTGAAGGAAAGTGCTCAG -3'
(R):5'- TTTCCAACAGGACAGCAGGAG -3'

Sequencing Primer
(F):5'- CGTGAATGTTCCTTAGACACAGG -3'
(R):5'- CAGTGAGTGCCTTTAACCACTGAG -3'

Posted On

2019-10-17