Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00487:Mrps7'

4467

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrps7

Ensembl Gene

ENSMUSG00000046756

Gene Name

mitchondrial ribosomal protein S7

Synonyms

MRP-S7, Rpms7

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL00487

Quality Score

Status

Chromosome

Chromosomal Location

115494966-115498862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115495684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 74 (I74T)

Ref Sequence

ENSEMBL: ENSMUSP00000053033 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000058109
AA Change: I74T

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053033
Gene: ENSMUSG00000046756
AA Change: I74T

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

noncoding transcript
Transcript: ENSMUST00000123831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146244

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148782

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

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

Coding Region Coverage

Validation Efficiency

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,200,276 (GRCm39)		probably null	Het
Cfap251	T	G	5: 123,412,240 (GRCm39)	I84S	probably damaging	Het
Dusp23	T	C	1: 172,459,199 (GRCm39)		probably benign	Het
Invs	C	T	4: 48,407,689 (GRCm39)	Q555*	probably null	Het
Mak16	T	C	8: 31,656,778 (GRCm39)	N9D	probably benign	Het
Nlrp4a	T	G	7: 26,149,410 (GRCm39)	V339G	possibly damaging	Het
Nucb1	A	G	7: 45,151,075 (GRCm39)	L102P	probably damaging	Het
Pdp2	T	C	8: 105,320,829 (GRCm39)	M226T	probably benign	Het
Pik3r2	T	C	8: 71,223,073 (GRCm39)	D449G	probably damaging	Het
Rnf157	G	A	11: 116,253,181 (GRCm39)	P76S	probably benign	Het
Senp6	C	A	9: 80,021,120 (GRCm39)	Q267K	probably damaging	Het
Slc9a2	A	G	1: 40,781,818 (GRCm39)	E349G	probably damaging	Het
Snx14	G	T	9: 88,284,243 (GRCm39)	S475Y	probably damaging	Het
Vmn1r180	A	T	7: 23,651,948 (GRCm39)	H37L	probably benign	Het
Xrn1	A	T	9: 95,921,002 (GRCm39)	H1371L	probably benign	Het

Other mutations in Mrps7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7541:Mrps7	UTSW	11	115,497,696 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2012-04-20