Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01694:Rpl5'

104196

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl5

Ensembl Gene

ENSMUSG00000058558

Gene Name

ribosomal protein L5

Synonyms

U21RNA, Skax23, Ska23, Ska

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

IGL01694

Quality Score

Status

Chromosome

Chromosomal Location

108048388-108056871 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108055106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 253 (Y253H)

Ref Sequence

ENSEMBL: ENSMUSP00000080854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031198] [ENSMUST00000082223] [ENSMUST00000153590] [ENSMUST00000145239]

AlphaFold

P47962

Predicted Effect

probably benign
Transcript: ENSMUST00000031198

SMART Domains

Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270

Domain	Start	End	E-Value	Type
PIP49_N	19	177	1.7e-92	SMART
Pfam:PIP49_C	194	396	1.9e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082223
AA Change: Y253H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000080854
Gene: ENSMUSG00000058558
AA Change: Y253H

Domain	Start	End	E-Value	Type
low complexity region	19	24	N/A	INTRINSIC
Pfam:Ribosomal_L18p	26	173	2.1e-46	PFAM
Pfam:Ribosomal_L18_c	192	283	2.2e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151767

Predicted Effect

probably benign
Transcript: ENSMUST00000153590

SMART Domains

Protein: ENSMUSP00000123474
Gene: ENSMUSG00000058558

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18p	1	123	6.3e-37	PFAM
Pfam:Ribosomal_L18_c	142	163	2.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145239

SMART Domains

Protein: ENSMUSP00000117801
Gene: ENSMUSG00000029270

Domain	Start	End	E-Value	Type
PIP49_N	1	132	1.18e-45	SMART
Pfam:PIP49_C	149	284	2e-43	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L18P family of ribosomal proteins. It is located in the cytoplasm. The protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The protein interacts specifically with the beta subunit of casein kinase II. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 35,818,659 (GRCm39)	*219W	probably null	Het
Abi1	G	A	2: 22,850,725 (GRCm39)	T238M	probably damaging	Het
Agbl2	C	T	2: 90,631,418 (GRCm39)	L259F	probably damaging	Het
Cacna1g	T	A	11: 94,319,938 (GRCm39)	I1413F	probably damaging	Het
Ddx21	T	A	10: 62,434,430 (GRCm39)	K110*	probably null	Het
Dnm1l	A	T	16: 16,134,515 (GRCm39)	I463N	probably benign	Het
Dst	C	A	1: 34,227,241 (GRCm39)	H1286Q	probably benign	Het
Elmo2	A	T	2: 165,156,693 (GRCm39)	N67K	probably benign	Het
Eps8l3	G	A	3: 107,799,624 (GRCm39)	C578Y	probably damaging	Het
Fam83b	T	A	9: 76,398,272 (GRCm39)	I944F	probably benign	Het
Itga10	A	T	3: 96,559,833 (GRCm39)	D496V	probably damaging	Het
Lama2	T	G	10: 26,882,738 (GRCm39)	K2608N	possibly damaging	Het
Lap3	T	A	5: 45,655,937 (GRCm39)		probably null	Het
Madd	T	C	2: 90,988,320 (GRCm39)		probably benign	Het
Mdh1b	T	A	1: 63,750,265 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,370,850 (GRCm39)		probably benign	Het
Opalin	A	G	19: 41,052,239 (GRCm39)		probably benign	Het
Or4e2	A	G	14: 52,688,041 (GRCm39)	N57S	probably benign	Het
Plxna3	T	A	X: 73,382,114 (GRCm39)	D1291E	probably damaging	Het
Prss40	T	A	1: 34,595,178 (GRCm39)	I101F	probably benign	Het
Sephs2	A	G	7: 126,872,259 (GRCm39)	I278T	probably benign	Het
Slc25a34	G	A	4: 141,349,564 (GRCm39)	A197V	probably benign	Het
Slco6d1	C	T	1: 98,427,570 (GRCm39)	R634W	probably damaging	Het
Smarca4	C	A	9: 21,577,166 (GRCm39)	A871D	probably damaging	Het
Speer2	C	T	16: 69,655,000 (GRCm39)	S155N	probably damaging	Het
Speer2	T	A	16: 69,655,001 (GRCm39)	S155C	probably damaging	Het
Spink12	T	A	18: 44,240,827 (GRCm39)	V71E	probably damaging	Het
Tecta	T	C	9: 42,278,475 (GRCm39)	D1011G	possibly damaging	Het
Tmtc4	G	A	14: 123,210,624 (GRCm39)	T78I	possibly damaging	Het
Tub	T	C	7: 108,620,243 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,802,631 (GRCm39)	V644D	probably damaging	Het
Zfp7	C	T	15: 76,774,995 (GRCm39)	Q346*	probably null	Het

Other mutations in Rpl5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Rpl5	APN	5	108,055,145 (GRCm39)	critical splice donor site	probably null
PIT4142001:Rpl5	UTSW	5	108,055,049 (GRCm39)	unclassified	probably benign
R0070:Rpl5	UTSW	5	108,049,766 (GRCm39)	missense	probably benign	0.13
R0153:Rpl5	UTSW	5	108,052,623 (GRCm39)	missense	probably benign	0.00
R3877:Rpl5	UTSW	5	108,051,667 (GRCm39)	missense	probably benign	0.14
R4502:Rpl5	UTSW	5	108,052,723 (GRCm39)	missense	possibly damaging	0.92
R4503:Rpl5	UTSW	5	108,052,723 (GRCm39)	missense	possibly damaging	0.92
R5654:Rpl5	UTSW	5	108,051,514 (GRCm39)	intron	probably benign
R6955:Rpl5	UTSW	5	108,049,912 (GRCm39)	missense	probably benign	0.01
R9536:Rpl5	UTSW	5	108,051,721 (GRCm39)	missense	probably benign	0.02

Posted On

2014-01-21