Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02536:Mrps10'

297507

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrps10

Ensembl Gene

ENSMUSG00000034729

Gene Name

mitochondrial ribosomal protein S10

Synonyms

Rpms10, 1110038B19Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

IGL02536

Quality Score

Status

Chromosome

Chromosomal Location

47679812-47692342 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47685928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 152 (Y152H)

Ref Sequence

ENSEMBL: ENSMUSP00000116184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060752] [ENSMUST00000119841] [ENSMUST00000119945] [ENSMUST00000120737] [ENSMUST00000125963]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000060752
AA Change: Y32H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055301
Gene: ENSMUSG00000034729
AA Change: Y32H

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S10	35	133	9.8e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119841
AA Change: Y32H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112740
Gene: ENSMUSG00000034729
AA Change: Y32H

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S10	35	133	9.8e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119945
AA Change: Y73H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113343
Gene: ENSMUSG00000034729
AA Change: Y73H

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:Ribosomal_S10	77	173	3.1e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120737
AA Change: Y72H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113460
Gene: ENSMUSG00000034729
AA Change: Y72H

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:Ribosomal_S10	75	173	1.1e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125963
AA Change: Y152H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116184
Gene: ENSMUSG00000034729
AA Change: Y152H

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	37	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152497

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 that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,685,665 (GRCm39)		noncoding transcript	Het
Abca8b	C	T	11: 109,872,574 (GRCm39)	R9H	probably benign	Het
Adamts8	T	A	9: 30,873,368 (GRCm39)	S858T	probably benign	Het
Alg1	C	T	16: 5,057,023 (GRCm39)	Q245*	probably null	Het
Ankmy1	T	C	1: 92,813,910 (GRCm39)	Y423C	probably damaging	Het
Anp32a	A	T	9: 62,279,110 (GRCm39)	T55S	probably damaging	Het
Arhgef9	A	C	X: 94,102,443 (GRCm39)	V406G	probably damaging	Het
Bdkrb1	T	C	12: 105,571,259 (GRCm39)	F275S	possibly damaging	Het
Card9	C	T	2: 26,248,844 (GRCm39)	V102I	possibly damaging	Het
Ccdc81	A	T	7: 89,526,788 (GRCm39)		probably benign	Het
Cd101	T	A	3: 100,910,913 (GRCm39)	D915V	probably damaging	Het
Cdk10	A	G	8: 123,953,754 (GRCm39)	D77G	possibly damaging	Het
Ctnnd1	T	C	2: 84,435,540 (GRCm39)	T827A	probably benign	Het
Dspp	A	C	5: 104,323,531 (GRCm39)	T225P	probably damaging	Het
Evpl	T	C	11: 116,112,035 (GRCm39)	E1885G	probably damaging	Het
Fstl4	C	T	11: 53,024,851 (GRCm39)		probably benign	Het
Gm5930	T	A	14: 44,575,015 (GRCm39)	N57I	probably damaging	Het
Gnl2	C	T	4: 124,946,401 (GRCm39)	Q541*	probably null	Het
Igkv3-1	T	C	6: 70,681,035 (GRCm39)	V78A	probably benign	Het
Inpp5a	T	C	7: 139,147,338 (GRCm39)	I321T	probably benign	Het
Kif20b	T	A	19: 34,951,959 (GRCm39)	S1746T	probably benign	Het
Lrrc8c	T	C	5: 105,755,038 (GRCm39)	I271T	probably benign	Het
Myl9	C	T	2: 156,620,469 (GRCm39)	S2L	probably damaging	Het
Myof	A	T	19: 37,938,103 (GRCm39)	H870Q	probably damaging	Het
Nfatc4	A	T	14: 56,067,367 (GRCm39)	I456F	probably damaging	Het
Notch2	A	G	3: 98,009,723 (GRCm39)	H550R	probably benign	Het
Or13f5	T	A	4: 52,825,817 (GRCm39)	V140D	possibly damaging	Het
Or14j2	T	A	17: 37,885,817 (GRCm39)	I166F	probably damaging	Het
Or51v8	T	A	7: 103,320,164 (GRCm39)	I25F	possibly damaging	Het
Or8b47	T	C	9: 38,435,460 (GRCm39)	L144P	probably damaging	Het
P2rx1	A	T	11: 72,903,300 (GRCm39)	I230F	probably damaging	Het
Pcnt	A	G	10: 76,216,063 (GRCm39)	V2275A	possibly damaging	Het
Pip5k1a	G	A	3: 94,971,707 (GRCm39)	T465I	probably benign	Het
Pnkd	G	A	1: 74,391,059 (GRCm39)	R415H	probably damaging	Het
Prdx4	T	A	X: 154,115,443 (GRCm39)	I132F	probably damaging	Het
Pvr	A	G	7: 19,652,717 (GRCm39)	M66T	probably benign	Het
Rnf216	A	G	5: 143,065,995 (GRCm39)	I531T	probably benign	Het
Rps6ka4	A	T	19: 6,809,439 (GRCm39)	F405Y	probably damaging	Het
Serpinb2	A	G	1: 107,452,679 (GRCm39)		probably benign	Het
Sfxn1	A	G	13: 54,239,513 (GRCm39)	K12R	probably benign	Het
Slc17a7	A	G	7: 44,820,370 (GRCm39)	E275G	probably damaging	Het
Tnpo2	A	T	8: 85,771,696 (GRCm39)	I245F	probably benign	Het
Ush2a	A	T	1: 188,689,463 (GRCm39)		probably null	Het
Yju2b	A	T	8: 84,987,245 (GRCm39)	Y109*	probably null	Het
Zcchc4	C	T	5: 52,965,658 (GRCm39)	R321W	probably damaging	Het

Other mutations in Mrps10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB001:Mrps10	UTSW	17	47,689,208 (GRCm39)	makesense	probably null
BB011:Mrps10	UTSW	17	47,689,208 (GRCm39)	makesense	probably null
R0746:Mrps10	UTSW	17	47,683,564 (GRCm39)	missense	probably benign	0.36
R1872:Mrps10	UTSW	17	47,683,377 (GRCm39)	missense	possibly damaging	0.82
R4429:Mrps10	UTSW	17	47,689,124 (GRCm39)	splice site	probably null
R5617:Mrps10	UTSW	17	47,689,167 (GRCm39)	missense	probably benign	0.19
R6752:Mrps10	UTSW	17	47,688,740 (GRCm39)	missense	probably damaging	1.00
R7131:Mrps10	UTSW	17	47,685,940 (GRCm39)	missense	probably damaging	0.98
R7385:Mrps10	UTSW	17	47,689,146 (GRCm39)	missense	probably damaging	1.00
R7924:Mrps10	UTSW	17	47,689,208 (GRCm39)	makesense	probably null
R8525:Mrps10	UTSW	17	47,683,371 (GRCm39)	missense	probably damaging	1.00
R9324:Mrps10	UTSW	17	47,686,903 (GRCm39)	nonsense	probably null
R9752:Mrps10	UTSW	17	47,683,572 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16