Mutagenetix > Incidental Mutation

Incidental Mutation 'R7981:Mrps7'

651230

Institutional Source

Beutler Lab

Gene Symbol

Mrps7

Ensembl Gene

ENSMUSG00000046756

Gene Name

mitchondrial ribosomal protein S7

Synonyms

MRP-S7, Rpms7

MMRRC Submission

046022-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7981 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115494966-115498862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115497687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 184 (M184T)

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

possibly damaging
Transcript: ENSMUST00000058109
AA Change: M184T

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053033
Gene: ENSMUSG00000046756
AA Change: M184T

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,784,360 (GRCm39)	F278I	probably damaging	Het
Abca8a	T	C	11: 109,980,739 (GRCm39)	T100A	probably benign	Het
Adam34l	A	G	8: 44,078,850 (GRCm39)	F458S	probably damaging	Het
Agbl1	A	G	7: 76,094,588 (GRCm39)	T740A	unknown	Het
Aldh1a2	A	T	9: 71,171,102 (GRCm39)	I197F	probably damaging	Het
Ankrd28	T	C	14: 31,424,114 (GRCm39)	T1009A	probably benign	Het
Antxrl	T	C	14: 33,787,838 (GRCm39)	V287A	probably damaging	Het
Baiap2l1	G	A	5: 144,294,700 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,938,562 (GRCm39)	V30A	possibly damaging	Het
Ccdc150	A	T	1: 54,407,551 (GRCm39)	K1109M	probably damaging	Het
Ccdc28a	A	G	10: 18,094,127 (GRCm39)	L164P	probably benign	Het
Cnot1	C	T	8: 96,489,797 (GRCm39)	V469M	probably damaging	Het
Col16a1	T	G	4: 129,980,347 (GRCm39)		probably null	Het
Coq9	A	G	8: 95,569,285 (GRCm39)	H39R	probably benign	Het
Crh	T	A	3: 19,748,216 (GRCm39)	E142V	probably benign	Het
Depdc1a	A	G	3: 159,226,488 (GRCm39)	N265S	probably benign	Het
Dlg5	T	C	14: 24,208,213 (GRCm39)	T998A	probably benign	Het
Epg5	T	C	18: 78,052,929 (GRCm39)		probably null	Het
Gcc1	G	A	6: 28,419,140 (GRCm39)	L398F	probably benign	Het
Gde1	T	C	7: 118,288,264 (GRCm39)	T320A	probably damaging	Het
Gemin5	T	C	11: 58,036,231 (GRCm39)	D704G	probably damaging	Het
Gfi1	G	A	5: 107,873,543 (GRCm39)		probably benign	Het
Insc	A	G	7: 114,428,302 (GRCm39)	T92A	probably damaging	Het
Krtap6-2	T	C	16: 89,216,562 (GRCm39)	Y135C	unknown	Het
Lpcat2	T	C	8: 93,582,182 (GRCm39)	S34P	probably damaging	Het
Mansc1	T	C	6: 134,587,274 (GRCm39)	D301G	possibly damaging	Het
Mbl2	C	A	19: 30,216,737 (GRCm39)	T183K	probably damaging	Het
Mri1	A	C	8: 84,983,792 (GRCm39)	V33G	possibly damaging	Het
Mug1	A	T	6: 121,858,723 (GRCm39)	Y1147F	probably damaging	Het
N4bp2	C	T	5: 65,969,485 (GRCm39)	H1416Y	probably benign	Het
Naa15	T	C	3: 51,366,092 (GRCm39)	F487S	probably damaging	Het
Nin	C	T	12: 70,089,591 (GRCm39)	V1275I		Het
Or4c116	A	G	2: 88,942,400 (GRCm39)	F152S	probably damaging	Het
Or55b3	A	T	7: 102,127,036 (GRCm39)	Y14N	probably damaging	Het
Pik3c2b	A	T	1: 133,003,547 (GRCm39)		probably null	Het
Pkn1	G	T	8: 84,407,637 (GRCm39)	N463K	probably damaging	Het
Pramel24	T	G	4: 143,453,452 (GRCm39)	F187V	probably benign	Het
Rab11fip3	C	T	17: 26,216,963 (GRCm39)	S816N	probably damaging	Het
Rassf4	G	T	6: 116,617,218 (GRCm39)	D262E	probably damaging	Het
Sec16a	A	G	2: 26,311,384 (GRCm39)		probably null	Het
Sspo	A	G	6: 48,445,428 (GRCm39)	T2290A	probably benign	Het
Sumf1	A	G	6: 108,129,186 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,179,248 (GRCm39)	K4409E	probably benign	Het
Tasor	T	C	14: 27,168,373 (GRCm39)	V305A	possibly damaging	Het
Tmco4	T	G	4: 138,785,772 (GRCm39)	L614R	probably damaging	Het
Tmem67	G	T	4: 12,070,592 (GRCm39)	N245K	probably damaging	Het
Trim58	T	C	11: 58,542,138 (GRCm39)	V366A	probably benign	Het
Vmn1r123	T	C	7: 20,896,914 (GRCm39)	S269P	probably damaging	Het
Vmn2r91	T	A	17: 18,327,887 (GRCm39)	S494T	probably benign	Het
Zbtb26	T	A	2: 37,326,887 (GRCm39)	I50L	possibly 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
R7697:Mrps7	UTSW	11	115,495,701 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTTAGACACAGGTTTCTGAG -3'
(R):5'- TTCCAACAGGACAGCAGGAG -3'

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

Posted On

2020-09-15