Mutagenetix > Incidental Mutations

Incidental Mutation 'R9117:Mrps9'

692578

Institutional Source

Beutler Lab

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 #

R9117 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42851233-42905683 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 42903377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 332 (S332A)

Ref Sequence

ENSEMBL: ENSMUSP00000056855 (fasta)

Gene Model

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

AlphaFold

Q9D7N3

Predicted Effect

probably benign
Transcript: ENSMUST00000057208
AA Change: S332A

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056855
Gene: ENSMUSG00000060679
AA Change: S332A

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

probably benign
Transcript: ENSMUST00000201108

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 35,893,071	S185T	probably benign	Het
Agfg1	T	G	1: 82,894,495	F516L	possibly damaging	Het
Akap5	T	A	12: 76,327,818	M8K	possibly damaging	Het
Aldh1l2	C	T	10: 83,506,681	V535I	probably benign	Het
Atg3	T	C	16: 45,186,201	V277A	probably damaging	Het
Bloc1s6	C	T	2: 122,746,614	P168L	probably damaging	Het
Ccdc173	G	T	2: 69,781,759	S175*	probably null	Het
Ccr7	A	G	11: 99,145,260	Y279H	probably damaging	Het
Clint1	A	G	11: 45,890,735	T211A	probably damaging	Het
Dchs2	T	G	3: 83,269,355	D873E	probably benign	Het
Dhx30	A	G	9: 110,097,096	L149P	probably damaging	Het
Dtx1	A	G	5: 120,710,291	V8A	probably benign	Het
Enpp3	T	A	10: 24,826,180	K91N	possibly damaging	Het
Fcho1	C	T	8: 71,712,068	G523E	possibly damaging	Het
Ffar2	T	C	7: 30,819,191	E308G	probably damaging	Het
Foxb2	T	C	19: 16,873,394	K83E	unknown	Het
Git2	A	G	5: 114,749,560		probably null	Het
Gm10024	T	C	10: 77,711,505	S17P	unknown	Het
Greb1l	A	T	18: 10,542,422	Y1339F	probably benign	Het
Grhl2	T	A	15: 37,270,668	D33E	probably damaging	Het
Herc4	C	A	10: 63,290,521	L551I	probably benign	Het
Igfn1	T	A	1: 135,974,790	T390S	probably benign	Het
Ighv3-1	T	A	12: 113,964,469	H90L	probably benign	Het
Jag2	G	T	12: 112,913,659	Y697*	probably null	Het
Kif1c	T	C	11: 70,704,972	V168A	probably damaging	Het
Lipn	T	C	19: 34,068,641	W5R	probably damaging	Het
Mavs	G	A	2: 131,245,325	A248T	probably benign	Het
Megf10	G	A	18: 57,259,701	G390D	probably damaging	Het
Mib1	A	G	18: 10,793,023	H653R	probably benign	Het
Muc5b	T	C	7: 141,869,333	C4498R	possibly damaging	Het
Myo15b	T	A	11: 115,887,917	I1157N	possibly damaging	Het
Myo9b	C	T	8: 71,347,807	T1002M	probably benign	Het
Nav3	T	A	10: 109,684,239	M2328L	probably benign	Het
Olfr186	T	C	16: 59,027,290	I206V	probably benign	Het
Olfr917	T	A	9: 38,665,810	E11D	probably benign	Het
Pawr	T	C	10: 108,333,279	S155P	probably damaging	Het
Pcdhb15	G	T	18: 37,475,037	V441F	probably damaging	Het
Plekhg3	A	G	12: 76,578,131	D1250G	probably benign	Het
Ptprs	T	A	17: 56,435,853	M430L	possibly damaging	Het
Raly	T	A	2: 154,861,865	S119T	probably damaging	Het
Serpinb6a	A	T	13: 33,925,429	S128T	probably benign	Het
Slc22a7	A	G	17: 46,437,103	F210L	probably damaging	Het
Speg	G	T	1: 75,387,800	S275I	probably damaging	Het
Stk32c	C	T	7: 139,188,225	D47N	unknown	Het
Stra6	T	G	9: 58,152,539	S594R	probably benign	Het
Sun2	T	C	15: 79,730,316	H295R	probably benign	Het
Syne1	T	C	10: 5,103,667	Q7470R	probably damaging	Het
Syt14	A	T	1: 192,983,818	H259Q	unknown	Het
Trim50	A	G	5: 135,353,683	S130G	possibly damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Wdr18	T	C	10: 79,965,320	V189A	probably benign	Het
Zfat	C	A	15: 68,187,069	A206S	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
IGL02541:Mrps9	APN	1	42862654	splice site	probably null
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
Z1177:Mrps9	UTSW	1	42899458	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CAGGAGGAGCCATGTTTCTG -3'
(R):5'- TTCTGCAGAATGGAGGGATG -3'

Sequencing Primer
(F):5'- AGCCATGTTTCTGTGATTGGTGTAAC -3'
(R):5'- TCCTGAGAGCCACACCAGTG -3'

Posted On

2021-12-30