Mutagenetix > Incidental Mutation

Incidental Mutation 'R7697:Mrps7'

593726

Institutional Source

Beutler Lab

Gene Symbol

Mrps7

Ensembl Gene

ENSMUSG00000046756

Gene Name

mitchondrial ribosomal protein S7

Synonyms

MRP-S7, Rpms7

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115494966-115498862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115495701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 80 (T80A)

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 benign
Transcript: ENSMUST00000058109
AA Change: T80A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000053033
Gene: ENSMUSG00000046756
AA Change: T80A

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: 99.8%
20x: 99.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	C	14: 54,500,216 (GRCm39)	V87A	probably damaging	Het
Acadsb	A	G	7: 131,031,698 (GRCm39)	E178G	probably damaging	Het
Acoxl	A	G	2: 127,820,702 (GRCm39)	T365A	probably benign	Het
Adcy8	T	G	15: 64,618,850 (GRCm39)	I768L	probably benign	Het
Bloc1s4	A	G	5: 36,905,959 (GRCm39)	S11P	probably benign	Het
Brinp2	T	C	1: 158,095,496 (GRCm39)	I122V	probably benign	Het
Brwd1	T	C	16: 95,847,601 (GRCm39)	D673G	probably benign	Het
Cbx8	C	A	11: 118,931,637 (GRCm39)	E14*	probably null	Het
Cep295	T	A	9: 15,266,006 (GRCm39)	M49L	probably benign	Het
Cfap157	T	C	2: 32,669,765 (GRCm39)	N273D	probably benign	Het
Cntn3	A	T	6: 102,185,127 (GRCm39)	V663E	probably damaging	Het
Cntn3	C	T	6: 102,185,128 (GRCm39)	V663M	probably damaging	Het
Cspg5	G	C	9: 110,085,294 (GRCm39)	R488S	probably damaging	Het
Csrnp2	A	T	15: 100,385,953 (GRCm39)	M95K	probably damaging	Het
Dnah3	A	T	7: 119,566,657 (GRCm39)	V136E		Het
Drg2	T	A	11: 60,353,003 (GRCm39)	I212N	probably damaging	Het
Egfem1	T	C	3: 29,744,346 (GRCm39)		probably null	Het
Eif1ad18	T	C	12: 88,050,749 (GRCm39)	Y95H	probably damaging	Het
Enpep	T	A	3: 129,102,750 (GRCm39)	D402V	probably damaging	Het
Fanci	T	A	7: 79,056,040 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,881,306 (GRCm39)	V720D	probably damaging	Het
Fhod1	T	A	8: 106,074,563 (GRCm39)		probably benign	Het
Flnc	T	A	6: 29,456,516 (GRCm39)	I2238N	probably damaging	Het
Frmd4a	A	G	2: 4,488,892 (GRCm39)	E79G	probably damaging	Het
Gabrr2	A	T	4: 33,071,358 (GRCm39)	Y66F	probably benign	Het
Ggnbp1	T	G	17: 27,249,736 (GRCm39)	I192S	probably benign	Het
Gm32742	C	T	9: 51,058,901 (GRCm39)	V1039I	probably benign	Het
H2-D1	T	C	17: 35,482,121 (GRCm39)	L11P	probably damaging	Het
Hsd17b4	A	G	18: 50,263,208 (GRCm39)	Y25C	probably damaging	Het
Ildr2	C	A	1: 166,122,300 (GRCm39)	Q248K	probably benign	Het
Klrb1c	T	C	6: 128,757,273 (GRCm39)	H264R	probably benign	Het
Lrp11	C	T	10: 7,479,983 (GRCm39)	A346V	probably benign	Het
Mast4	G	A	13: 102,875,711 (GRCm39)	P1319L	probably damaging	Het
Mcm9	A	C	10: 53,491,990 (GRCm39)	F392V		Het
Med12l	C	T	3: 59,148,078 (GRCm39)	A965V	probably damaging	Het
Mtor	T	A	4: 148,624,765 (GRCm39)	Y2125*	probably null	Het
Myoc	A	G	1: 162,475,049 (GRCm39)	E200G	probably damaging	Het
Natd1	A	G	11: 60,797,808 (GRCm39)	V39A	probably damaging	Het
Notch4	C	T	17: 34,789,159 (GRCm39)	T486I	probably damaging	Het
Or10am5	T	C	7: 6,517,645 (GRCm39)	Y261C	probably damaging	Het
Or10n1	A	G	9: 39,525,157 (GRCm39)	Q98R	probably damaging	Het
Or2c1	G	A	16: 3,657,430 (GRCm39)	V198M	probably damaging	Het
Or5aq6	T	A	2: 86,923,162 (GRCm39)	H193L	probably benign	Het
Pdss2	T	A	10: 43,221,544 (GRCm39)	I152N	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,065,885 (GRCm39)	E1395G	unknown	Het
Polr2b	T	C	5: 77,468,059 (GRCm39)	Y120H	probably damaging	Het
Pyroxd2	C	T	19: 42,735,805 (GRCm39)	C99Y	probably benign	Het
Rela	T	C	19: 5,691,630 (GRCm39)	V268A	probably damaging	Het
Rgs3	C	T	4: 62,575,379 (GRCm39)	P589S	probably benign	Het
Rtn1	A	G	12: 72,455,151 (GRCm39)	S59P	probably benign	Het
Siae	A	G	9: 37,544,950 (GRCm39)	Y315C	probably damaging	Het
Susd3	C	A	13: 49,391,074 (GRCm39)	W147L	probably damaging	Het
Ttn	A	T	2: 76,702,047 (GRCm39)		probably null	Het
Ubr3	A	G	2: 69,728,030 (GRCm39)	Y131C	probably damaging	Het
Unc80	C	T	1: 66,677,104 (GRCm39)	P2011L	possibly damaging	Het
Usp9y	T	C	Y: 1,316,990 (GRCm39)	E1853G	possibly damaging	Het
Wls	C	A	3: 159,616,955 (GRCm39)	H331Q	probably benign	Het
Xkr6	C	A	14: 63,844,628 (GRCm39)	P217Q	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
R7541:Mrps7	UTSW	11	115,497,696 (GRCm39)	missense	probably damaging	0.97
R7981:Mrps7	UTSW	11	115,497,687 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- TGGAGTCACAGATTCACCCG -3'
(R):5'- GCCAGAACTTTGTTGCCTC -3'

Sequencing Primer
(F):5'- CGTAGGGTTCTGTCTGCTTCC -3'
(R):5'- TCCCTTCATCATCATGTTGGTG -3'

Posted On

2019-11-12