Mutagenetix > Incidental Mutation

Incidental Mutation 'R9262:Rpl18a'

702319

Institutional Source

Beutler Lab

Gene Symbol

Rpl18a

Ensembl Gene

ENSMUSG00000045128

Gene Name

ribosomal protein L18A

Synonyms

2510019J09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R9262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71347366-71350056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71348179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 168 (L168Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000809] [ENSMUST00000054220] [ENSMUST00000212129] [ENSMUST00000212378] [ENSMUST00000212494] [ENSMUST00000212709] [ENSMUST00000212796] [ENSMUST00000213053]

AlphaFold

P62717

Predicted Effect

probably benign
Transcript: ENSMUST00000000809

SMART Domains

Protein: ENSMUSP00000000809
Gene: ENSMUSG00000000792

Domain	Start	End	E-Value	Type
Pfam:SSF	47	452	2.5e-43	PFAM
transmembrane domain	522	544	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000054220

SMART Domains

Protein: ENSMUSP00000058368
Gene: ENSMUSG00000045128

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18ae	7	130	1.4e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212129

Predicted Effect

probably benign
Transcript: ENSMUST00000212378

Predicted Effect

probably benign
Transcript: ENSMUST00000212494

Predicted Effect

probably benign
Transcript: ENSMUST00000212709

Predicted Effect

probably benign
Transcript: ENSMUST00000212796
AA Change: L168Q

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000213053

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (73/75)

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 member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,443,375 (GRCm39)	H192L	unknown	Het
Abca4	T	A	3: 121,964,639 (GRCm39)	C2149S	probably damaging	Het
Abl2	G	A	1: 156,469,820 (GRCm39)	G1028D	possibly damaging	Het
Adgre1	A	G	17: 57,754,941 (GRCm39)	T680A	probably damaging	Het
Amn	G	A	12: 111,237,585 (GRCm39)	W10*	probably null	Het
Ankhd1	G	T	18: 36,765,799 (GRCm39)	V140F		Het
Asnsd1	A	T	1: 53,383,934 (GRCm39)	N613K	probably benign	Het
Bbs2	A	T	8: 94,807,543 (GRCm39)	I417N	probably damaging	Het
Cad	T	A	5: 31,225,009 (GRCm39)	W971R	probably null	Het
Cand2	A	T	6: 115,759,730 (GRCm39)	I134F	probably benign	Het
Ccdc154	C	A	17: 25,389,160 (GRCm39)	H453N	probably damaging	Het
Ccdc168	A	G	1: 44,096,269 (GRCm39)	S1610P	possibly damaging	Het
Ccdc7a	T	A	8: 129,486,277 (GRCm39)	H1601L	possibly damaging	Het
Ccdc9	A	C	7: 16,012,400 (GRCm39)	S261A	probably benign	Het
Cdkl3	T	A	11: 51,916,702 (GRCm39)	S277T	probably benign	Het
Cipc	T	A	12: 86,999,497 (GRCm39)	Y8*	probably null	Het
Cramp1	A	G	17: 25,232,920 (GRCm39)	S27P	probably damaging	Het
Csf1r	A	T	18: 61,243,406 (GRCm39)	M141L	probably benign	Het
Csf2rb2	G	T	15: 78,168,535 (GRCm39)	F873L	probably damaging	Het
Dchs1	G	A	7: 105,404,833 (GRCm39)	R2570W	probably damaging	Het
Dmxl1	A	T	18: 49,976,919 (GRCm39)	N94Y	probably benign	Het
Dnajc10	A	G	2: 80,176,965 (GRCm39)	K640R	probably benign	Het
Epha8	A	C	4: 136,658,995 (GRCm39)	H886Q	probably benign	Het
Fcgbp	G	C	7: 27,819,952 (GRCm39)	D2560H	probably damaging	Het
Fry	T	G	5: 150,305,109 (GRCm39)	F605V	probably damaging	Het
Fsip2	A	G	2: 82,807,662 (GRCm39)	N1327S	probably benign	Het
Gm12117	T	C	11: 33,226,001 (GRCm39)	T112A	probably benign	Het
Gm3604	A	T	13: 62,517,697 (GRCm39)	N220K	probably damaging	Het
Gm572	T	C	4: 148,735,652 (GRCm39)	V27A	probably benign	Het
Gpr39	A	G	1: 125,800,524 (GRCm39)	K425R	probably benign	Het
Heatr3	A	G	8: 88,883,097 (GRCm39)	D349G	probably benign	Het
Hip1	A	G	5: 135,478,541 (GRCm39)	S248P	probably damaging	Het
Itga11	A	G	9: 62,659,678 (GRCm39)		probably benign	Het
Itga3	C	T	11: 94,956,625 (GRCm39)	V210I	probably benign	Het
Jmjd1c	T	C	10: 67,083,793 (GRCm39)	I2173T	probably benign	Het
Klf13	G	A	7: 63,574,456 (GRCm39)	Q21*	probably null	Het
Kmt2a	A	T	9: 44,731,222 (GRCm39)	S3032T	probably benign	Het
Krt34	T	C	11: 99,930,851 (GRCm39)	R184G	probably benign	Het
Krtap16-1	T	C	11: 99,876,994 (GRCm39)	T137A	probably benign	Het
Ldc1	A	G	4: 130,114,153 (GRCm39)	V88A	possibly damaging	Het
Mgam	T	C	6: 40,723,422 (GRCm39)		probably null	Het
Mog	T	C	17: 37,325,648 (GRCm39)	T196A	possibly damaging	Het
Ms4a6d	T	C	19: 11,579,216 (GRCm39)	Y87C	possibly damaging	Het
Ndrg4	C	T	8: 96,435,812 (GRCm39)		probably benign	Het
Nsd1	T	A	13: 55,394,871 (GRCm39)	M927K	possibly damaging	Het
Or11l3	T	A	11: 58,516,282 (GRCm39)	M197L	probably benign	Het
Or4a73	G	T	2: 89,421,435 (GRCm39)	T8K	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pcdhac2	A	G	18: 37,279,095 (GRCm39)	R692G	possibly damaging	Het
Pcsk4	T	A	10: 80,160,864 (GRCm39)	S321C	probably damaging	Het
Pi4ka	A	G	16: 17,120,859 (GRCm39)	F1292L		Het
Pigv	G	T	4: 133,397,110 (GRCm39)	P6Q	possibly damaging	Het
Pkhd1	A	C	1: 20,618,351 (GRCm39)	S927A	probably benign	Het
Pnpla3	A	T	15: 84,055,363 (GRCm39)	I90F	probably benign	Het
Pole	C	A	5: 110,473,422 (GRCm39)	L1739I	probably damaging	Het
Pole	T	A	5: 110,473,423 (GRCm39)	L1739H	probably damaging	Het
Rbm12	A	T	2: 155,939,317 (GRCm39)	N318K	possibly damaging	Het
Ryr2	T	C	13: 11,765,854 (GRCm39)	N1294S	probably damaging	Het
Sema5b	T	C	16: 35,453,223 (GRCm39)	L98P	possibly damaging	Het
Slco1a8	G	T	6: 141,926,594 (GRCm39)	F597L	probably damaging	Het
Smg7	A	G	1: 152,721,262 (GRCm39)	V650A	probably damaging	Het
Spata31d1e	T	C	13: 59,890,402 (GRCm39)	M473V	probably benign	Het
Strada	C	T	11: 106,075,444 (GRCm39)	R13Q	probably damaging	Het
Sun1	T	C	5: 139,200,918 (GRCm39)	S37P	unknown	Het
Syce1l	T	C	8: 114,380,738 (GRCm39)		probably null	Het
Tdg	T	A	10: 82,480,507 (GRCm39)	F263L	probably damaging	Het
Tead3	G	T	17: 28,560,495 (GRCm39)	S36R	probably benign	Het
Timm44	A	G	8: 4,310,621 (GRCm39)	L377P	probably damaging	Het
Tk1	C	T	11: 117,716,581 (GRCm39)	V9M	probably benign	Het
Trim36	A	G	18: 46,300,506 (GRCm39)	Y722H	probably benign	Het
Ttn	A	T	2: 76,640,232 (GRCm39)	M13792K	possibly damaging	Het
Unc80	A	G	1: 66,594,411 (GRCm39)		probably benign	Het
Usp46	G	T	5: 74,189,965 (GRCm39)	A133E	probably benign	Het
Wnk2	T	A	13: 49,221,430 (GRCm39)	R1240S	probably benign	Het
Zfp821	G	A	8: 110,450,982 (GRCm39)	R325Q	probably damaging	Het

Other mutations in Rpl18a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01390:Rpl18a	APN	8	71,348,154 (GRCm39)	splice site	probably benign
R1105:Rpl18a	UTSW	8	71,348,658 (GRCm39)	missense	probably damaging	1.00
R2351:Rpl18a	UTSW	8	71,348,864 (GRCm39)	missense	probably benign	0.21
R4763:Rpl18a	UTSW	8	71,348,330 (GRCm39)	missense	probably benign	0.45
R5269:Rpl18a	UTSW	8	71,348,932 (GRCm39)	missense	possibly damaging	0.85
R6825:Rpl18a	UTSW	8	71,348,836 (GRCm39)	missense	probably damaging	0.98
R7342:Rpl18a	UTSW	8	71,348,042 (GRCm39)	missense	unknown
R7490:Rpl18a	UTSW	8	71,348,150 (GRCm39)	missense	probably benign	0.01
R8147:Rpl18a	UTSW	8	71,348,069 (GRCm39)	missense	probably damaging	0.99
R8435:Rpl18a	UTSW	8	71,348,341 (GRCm39)	missense	possibly damaging	0.52
R9104:Rpl18a	UTSW	8	71,348,788 (GRCm39)	missense	probably benign	0.10
Z1177:Rpl18a	UTSW	8	71,348,952 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATGTTGTTAGGGACGGGAC -3'
(R):5'- CTTTCCACAGACCGAGACATG -3'

Sequencing Primer
(F):5'- GACCTCTCCAGGGACATAGAAG -3'
(R):5'- CAGACCGAGACATGGGTGC -3'

Posted On

2022-03-25