Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02541:Mrps9'

298267

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrps9

Ensembl Gene

ENSMUSG00000060679

Gene Name

mitochondrial ribosomal protein S9

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.930) question?

Stock #

IGL02541

Quality Score

Status

Chromosome

Chromosomal Location

42851233-42905683 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 42862654 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057208]

AlphaFold

Q9D7N3

Predicted Effect

probably null
Transcript: ENSMUST00000057208

SMART Domains

Protein: ENSMUSP00000056855
Gene: ENSMUSG00000060679

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	194	207	N/A	INTRINSIC
Pfam:Ribosomal_S9	268	390	7.3e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188174

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,514,658	L917F	possibly damaging	Het
Abca6	A	T	11: 110,212,267	W833R	probably damaging	Het
Asb15	T	A	6: 24,566,266	V406D	probably damaging	Het
Bcl9l	T	C	9: 44,507,769	V968A	probably benign	Het
Bend7	T	C	2: 4,763,305		probably null	Het
Cadm2	C	A	16: 66,882,883		probably null	Het
Cadm2	C	A	16: 66,882,882	G21V	possibly damaging	Het
Camta1	G	A	4: 151,084,655	T1191I	probably benign	Het
Cep152	C	T	2: 125,605,354	A425T	probably damaging	Het
Cep95	C	A	11: 106,815,581	Q554K	probably damaging	Het
Cgref1	A	G	5: 30,934,158		probably null	Het
Clock	T	A	5: 76,262,672		probably null	Het
Cmc2	A	G	8: 116,894,144	F33L	probably benign	Het
Cnksr3	A	G	10: 7,135,073	V258A	probably damaging	Het
Col6a6	G	T	9: 105,732,216	N1624K	probably benign	Het
Cped1	T	C	6: 22,120,989	I356T	probably benign	Het
Dpy19l2	C	T	9: 24,658,647	V337I	probably benign	Het
E2f3	A	T	13: 29,916,844		probably null	Het
Eif1ad	A	G	19: 5,368,417		probably benign	Het
Fam114a2	A	T	11: 57,499,801	D302E	probably benign	Het
Fam129c	A	T	8: 71,602,782	T279S	probably benign	Het
Fign	T	C	2: 63,979,537	N463S	probably benign	Het
Fzr1	T	C	10: 81,370,033	T220A	probably damaging	Het
Gm14496	G	A	2: 182,000,393	R619Q	probably benign	Het
Gm9268	T	A	7: 43,023,668		probably benign	Het
Gm9966	T	C	7: 95,958,784	I104T	unknown	Het
Itgb7	G	T	15: 102,223,457	H230Q	probably benign	Het
Kif7	T	C	7: 79,710,880	H249R	possibly damaging	Het
Krtap4-2	T	G	11: 99,634,966	Q20P	unknown	Het
Mis18bp1	T	C	12: 65,161,460	T160A	probably damaging	Het
Mpp6	A	G	6: 50,183,727	I323V	probably benign	Het
Mum1	G	A	10: 80,228,439		probably null	Het
Mynn	T	A	3: 30,611,603	H461Q	probably damaging	Het
Naa25	A	G	5: 121,424,531	T459A	possibly damaging	Het
Notch1	C	T	2: 26,468,503	D1439N	probably benign	Het
Olfr701	A	G	7: 106,818,602	E173G	probably benign	Het
Pcdhb3	A	T	18: 37,302,145	D388V	probably damaging	Het
Pold3	C	T	7: 100,083,672	G417S	probably damaging	Het
Rad17	A	G	13: 100,633,443		probably benign	Het
Sh3glb1	T	C	3: 144,720,040	D5G	probably damaging	Het
Shank3	T	A	15: 89,501,410	Y167N	probably damaging	Het
Slc3a2	A	T	19: 8,707,759	Y292*	probably null	Het
Slc7a13	T	A	4: 19,839,212		probably benign	Het
Snx18	A	T	13: 113,594,766	I564N	probably damaging	Het
Supt6	G	A	11: 78,226,918	R491C	probably damaging	Het
Tanc1	G	T	2: 59,833,258	G1120C	probably damaging	Het
Tnrc6b	C	A	15: 80,879,831	D511E	probably benign	Het
Trio	A	G	15: 27,844,930		probably benign	Het
Trmt12	T	A	15: 58,873,802	W350R	probably benign	Het
Ttc1	T	C	11: 43,738,821	T173A	probably benign	Het
Ttc39d	C	A	17: 80,216,446	T178K	probably damaging	Het
Ufl1	T	A	4: 25,250,534	E693V	possibly damaging	Het
Vamp2	G	T	11: 69,089,151	E16D	unknown	Het
Wdr70	C	T	15: 7,884,302	W622*	probably null	Het
Zfp28	C	T	7: 6,393,480	Q305*	probably null	Het
Zfp653	C	A	9: 22,055,783	R602L	probably damaging	Het
Zzef1	T	A	11: 72,872,649	V1374E	probably damaging	Het

Other mutations in Mrps9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Mrps9	APN	1	42905459	missense	probably damaging	1.00
IGL01134:Mrps9	APN	1	42903397	missense	probably damaging	0.97
IGL01557:Mrps9	APN	1	42851350	missense	probably benign
PIT4402001:Mrps9	UTSW	1	42896098	missense	probably benign	0.10
R0598:Mrps9	UTSW	1	42905417	missense	probably damaging	1.00
R1718:Mrps9	UTSW	1	42903399	missense	probably damaging	1.00
R4195:Mrps9	UTSW	1	42901094	intron	probably benign
R4196:Mrps9	UTSW	1	42901094	intron	probably benign
R4695:Mrps9	UTSW	1	42862515	missense	possibly damaging	0.59
R4840:Mrps9	UTSW	1	42898415	intron	probably benign
R5033:Mrps9	UTSW	1	42895331	splice site	probably null
R5489:Mrps9	UTSW	1	42898433	splice site	probably benign
R5876:Mrps9	UTSW	1	42895378	missense	probably damaging	0.99
R6891:Mrps9	UTSW	1	42905413	missense	probably damaging	1.00
R7015:Mrps9	UTSW	1	42898546	missense	probably benign	0.04
R7940:Mrps9	UTSW	1	42862648	missense	probably damaging	0.98
R8679:Mrps9	UTSW	1	42879755	missense	probably damaging	0.99
R9117:Mrps9	UTSW	1	42903377	missense	probably benign	0.22
Z1177:Mrps9	UTSW	1	42899458	missense	probably benign	0.09

Posted On

2015-04-16