Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02390:Mrpl15'

294244

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl15

Ensembl Gene

ENSMUSG00000033845

Gene Name

mitochondrial ribosomal protein L15

Synonyms

HSPC145, MRP-L7, Rpml7

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL02390

Quality Score

Status

Chromosome

Chromosomal Location

4843429-4855962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4855837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 22 (S22G)

Ref Sequence

ENSEMBL: ENSMUSP00000141204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045689] [ENSMUST00000130201] [ENSMUST00000146665] [ENSMUST00000156816]

AlphaFold

Q9CPR5

Predicted Effect

unknown
Transcript: ENSMUST00000045689
AA Change: S22G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115538

Predicted Effect

probably benign
Transcript: ENSMUST00000130201
AA Change: S22G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114649
Gene: ENSMUSG00000033845
AA Change: S22G

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18e	42	176	4.8e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132625

Predicted Effect

probably benign
Transcript: ENSMUST00000146665
AA Change: S22G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000141204
Gene: ENSMUSG00000033845
AA Change: S22G

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18e	42	126	6.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156816
AA Change: S22G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000115512
Gene: ENSMUSG00000033845
AA Change: S22G

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18e	44	175	5e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192286

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 39S subunit protein that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,187,377 (GRCm39)	K894R	probably benign	Het
Ampd1	C	T	3: 102,986,357 (GRCm39)	A12V	probably benign	Het
Ano4	T	A	10: 88,860,843 (GRCm39)	D345V	possibly damaging	Het
Arl6	A	G	16: 59,441,580 (GRCm39)		probably null	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atrn	C	T	2: 130,862,897 (GRCm39)	P1326S	possibly damaging	Het
Btbd9	A	G	17: 30,743,788 (GRCm39)	V238A	probably benign	Het
Cdh16	T	C	8: 105,348,606 (GRCm39)	T141A	probably damaging	Het
Cetn4	T	C	3: 37,363,305 (GRCm39)	D102G	probably damaging	Het
Col5a3	T	A	9: 20,688,292 (GRCm39)	N1256I	unknown	Het
Cyfip2	A	G	11: 46,112,225 (GRCm39)	F993L	possibly damaging	Het
Dcaf6	T	A	1: 165,250,490 (GRCm39)	I125F	possibly damaging	Het
Dclk2	A	C	3: 86,731,990 (GRCm39)	S336A	probably damaging	Het
Dnah8	G	A	17: 31,049,819 (GRCm39)	V4327I	probably benign	Het
Ebna1bp2	T	C	4: 118,478,694 (GRCm39)	V59A	possibly damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
F2	A	T	2: 91,463,332 (GRCm39)	V184D	possibly damaging	Het
Fbxo38	C	T	18: 62,666,660 (GRCm39)	R171H	probably damaging	Het
Fhod3	A	C	18: 25,199,332 (GRCm39)	S668R	probably benign	Het
Fkbp10	T	A	11: 100,306,843 (GRCm39)	F78L	probably damaging	Het
Garre1	T	C	7: 33,947,643 (GRCm39)	D455G	probably damaging	Het
Hyi	C	T	4: 118,219,810 (GRCm39)	R254C	probably benign	Het
Igfl3	A	T	7: 17,915,659 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrrc8a	C	A	2: 30,146,713 (GRCm39)	P509Q	probably damaging	Het
Mapkap1	T	A	2: 34,322,101 (GRCm39)	N6K	probably damaging	Het
Mdh1b	T	A	1: 63,760,716 (GRCm39)	H115L	probably benign	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Nf1	T	C	11: 79,456,761 (GRCm39)	Y616H	possibly damaging	Het
Nf1	T	A	11: 79,302,502 (GRCm39)		probably benign	Het
Olig1	C	A	16: 91,067,041 (GRCm39)	Q93K	probably damaging	Het
Or13d1	T	A	4: 52,971,263 (GRCm39)	I214N	probably damaging	Het
Or1o1	A	T	17: 37,716,986 (GRCm39)	L182F	probably benign	Het
Or4f59	A	T	2: 111,873,056 (GRCm39)	V107E	possibly damaging	Het
Otoa	C	A	7: 120,730,590 (GRCm39)	L597M	possibly damaging	Het
Parp16	C	T	9: 65,141,051 (GRCm39)	P207L	possibly damaging	Het
Pbrm1	T	A	14: 30,754,467 (GRCm39)	D162E	probably benign	Het
Pramel21	T	A	4: 143,341,895 (GRCm39)	M108K	probably benign	Het
Prdm10	A	G	9: 31,264,685 (GRCm39)	I658V	possibly damaging	Het
Psg21	A	T	7: 18,386,556 (GRCm39)	H143Q	probably benign	Het
Rfx4	C	T	10: 84,676,014 (GRCm39)	R28W	probably damaging	Het
Sart1	T	G	19: 5,430,489 (GRCm39)	M753L	possibly damaging	Het
Smcr8	T	A	11: 60,670,548 (GRCm39)	D565E	probably benign	Het
Smyd4	T	A	11: 75,278,332 (GRCm39)		probably null	Het
Sned1	T	C	1: 93,189,386 (GRCm39)	V274A	probably benign	Het
Tbc1d13	T	C	2: 30,027,399 (GRCm39)		probably benign	Het
Tox	A	T	4: 6,697,534 (GRCm39)	I423N	possibly damaging	Het
Tsc2	A	T	17: 24,819,427 (GRCm39)	V1232D	probably damaging	Het
Uckl1	C	T	2: 181,216,212 (GRCm39)	V178I	possibly damaging	Het
Usp13	T	A	3: 32,985,865 (GRCm39)	Y175*	probably null	Het
Vwde	A	G	6: 13,190,684 (GRCm39)	V469A	probably damaging	Het

Other mutations in Mrpl15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01470:Mrpl15	APN	1	4,846,754 (GRCm39)	missense	probably damaging	1.00
IGL02307:Mrpl15	APN	1	4,854,176 (GRCm39)	missense	possibly damaging	0.82
IGL03054:Mrpl15	UTSW	1	4,855,794 (GRCm39)	critical splice donor site	probably null
R0730:Mrpl15	UTSW	1	4,847,834 (GRCm39)	missense	probably damaging	1.00
R1938:Mrpl15	UTSW	1	4,847,805 (GRCm39)	missense	probably damaging	0.99
R4855:Mrpl15	UTSW	1	4,844,683 (GRCm39)	missense	probably benign	0.05
R5025:Mrpl15	UTSW	1	4,854,368 (GRCm39)	intron	probably benign
R5951:Mrpl15	UTSW	1	4,855,956 (GRCm39)	utr 5 prime	probably benign
R6723:Mrpl15	UTSW	1	4,852,789 (GRCm39)	critical splice donor site	probably null
R6802:Mrpl15	UTSW	1	4,846,953 (GRCm39)	missense	probably benign	0.03
R6988:Mrpl15	UTSW	1	4,852,883 (GRCm39)	missense	probably benign	0.10
R7057:Mrpl15	UTSW	1	4,846,865 (GRCm39)	missense	probably benign
R7236:Mrpl15	UTSW	1	4,846,711 (GRCm39)	missense	probably benign
R7573:Mrpl15	UTSW	1	4,847,778 (GRCm39)	missense	probably damaging	0.98
R7934:Mrpl15	UTSW	1	4,844,725 (GRCm39)	missense	probably benign
R8830:Mrpl15	UTSW	1	4,852,807 (GRCm39)	missense	probably damaging	1.00
R9287:Mrpl15	UTSW	1	4,846,856 (GRCm39)	missense	probably damaging	1.00
R9531:Mrpl15	UTSW	1	4,847,757 (GRCm39)	missense	probably benign	0.24

Posted On

2015-04-16