Mutagenetix > Incidental Mutation

Incidental Mutation 'R0319:Rpl27'

65270

Institutional Source

Beutler Lab

Gene Symbol

Rpl27

Ensembl Gene

ENSMUSG00000063316

Gene Name

ribosomal protein L27

Synonyms

MMRRC Submission

038529-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R0319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101333124-101336355 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 101334321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010502] [ENSMUST00000077856] [ENSMUST00000107249] [ENSMUST00000127514]

AlphaFold

P61358

Predicted Effect

probably benign
Transcript: ENSMUST00000010502

SMART Domains

Protein: ENSMUSP00000010502
Gene: ENSMUSG00000010358

Domain	Start	End	E-Value	Type
Pfam:IFP_35_N	8	80	9.1e-21	PFAM
Pfam:NID	81	170	1.5e-31	PFAM
Pfam:NID	179	266	1.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077856

SMART Domains

Protein: ENSMUSP00000090305
Gene: ENSMUSG00000063316

Domain	Start	End	E-Value	Type
KOW	4	31	2.14e-3	SMART
Pfam:Ribosomal_L27e	52	136	1.5e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107249

SMART Domains

Protein: ENSMUSP00000102870
Gene: ENSMUSG00000063316

Domain	Start	End	E-Value	Type
KOW	4	31	2.14e-3	SMART
Pfam:Ribosomal_L27e	52	136	1.1e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125958

Predicted Effect

probably benign
Transcript: ENSMUST00000127514

SMART Domains

Protein: ENSMUSP00000120418
Gene: ENSMUSG00000063316

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L27e	1	32	5.3e-12	PFAM
Pfam:Ribosomal_L27e	30	87	1.2e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139939

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152162

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 95.0%
20x: 89.1%

Validation Efficiency

100% (58/58)

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 L27E family of ribosomal proteins. It is located in the cytoplasm. 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	C	7: 127,836,362 (GRCm39)	V77G	probably benign	Het
Abcb1b	A	G	5: 8,877,428 (GRCm39)	R663G	probably benign	Het
Acly	A	G	11: 100,395,808 (GRCm39)	V404A	probably damaging	Het
Actg2	T	A	6: 83,497,725 (GRCm39)	I103F	probably damaging	Het
Anapc5	A	G	5: 122,956,919 (GRCm39)	V120A	probably damaging	Het
Ankk1	T	G	9: 49,327,371 (GRCm39)	T603P	probably damaging	Het
Ankmy2	T	C	12: 36,215,898 (GRCm39)	S33P	possibly damaging	Het
Arhgef19	A	T	4: 140,983,710 (GRCm39)	T748S	possibly damaging	Het
Atad5	T	A	11: 80,011,616 (GRCm39)		probably benign	Het
Atxn10	T	C	15: 85,249,483 (GRCm39)	L105P	probably damaging	Het
Cacna1s	T	C	1: 135,998,455 (GRCm39)	V161A	probably damaging	Het
Col6a3	T	C	1: 90,735,426 (GRCm39)	E741G	possibly damaging	Het
Cpne9	G	A	6: 113,271,654 (GRCm39)	G338E	probably damaging	Het
Cyp3a13	G	A	5: 137,897,124 (GRCm39)	P397S	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Draxin	A	G	4: 148,200,429 (GRCm39)	L7P	probably benign	Het
Exosc7	T	A	9: 122,960,025 (GRCm39)		probably benign	Het
Far2	A	G	6: 148,058,968 (GRCm39)	E218G	probably damaging	Het
Ggps1	A	C	13: 14,228,462 (GRCm39)	N240K	possibly damaging	Het
Kcnip1	T	C	11: 33,601,529 (GRCm39)		probably benign	Het
Kcnv2	A	T	19: 27,301,424 (GRCm39)	Y425F	probably benign	Het
Kdelr2	T	A	5: 143,398,272 (GRCm39)	F40I	probably damaging	Het
Kdm1b	C	T	13: 47,207,195 (GRCm39)	P173L	probably benign	Het
Kif20b	G	A	19: 34,925,132 (GRCm39)		probably benign	Het
Klhl9	A	T	4: 88,638,691 (GRCm39)	Y517N	possibly damaging	Het
Lgals3bp	A	G	11: 118,284,347 (GRCm39)	S411P	probably damaging	Het
Lmo3	G	A	6: 138,354,309 (GRCm39)	T85M	probably damaging	Het
Lvrn	C	A	18: 46,997,820 (GRCm39)	T256N	probably damaging	Het
Malt1	T	C	18: 65,595,986 (GRCm39)		probably null	Het
Mgst1	A	G	6: 138,133,155 (GRCm39)	I157V	possibly damaging	Het
Mob3a	A	T	10: 80,525,819 (GRCm39)	V164E	possibly damaging	Het
Mprip	T	A	11: 59,587,864 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,959,712 (GRCm39)	N276S	probably benign	Het
Or5an1b	A	T	19: 12,299,680 (GRCm39)	C170*	probably null	Het
P3h2	T	A	16: 25,789,681 (GRCm39)	I529F	possibly damaging	Het
Pikfyve	T	A	1: 65,285,490 (GRCm39)	S865T	probably benign	Het
Rcbtb2	G	A	14: 73,415,909 (GRCm39)	R474Q	probably benign	Het
Rtp1	G	A	16: 23,250,210 (GRCm39)	E192K	probably damaging	Het
Sgk2	T	C	2: 162,837,592 (GRCm39)		probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc49a4	T	C	16: 35,570,884 (GRCm39)	D140G	probably benign	Het
Spdl1	T	C	11: 34,714,347 (GRCm39)	N114S	possibly damaging	Het
Syne2	C	T	12: 76,110,936 (GRCm39)	R5756W	probably damaging	Het
Tor1aip1	T	C	1: 155,882,927 (GRCm39)	E307G	probably damaging	Het
Tpd52	T	C	3: 9,018,749 (GRCm39)	T44A	probably benign	Het
Trim67	A	T	8: 125,549,966 (GRCm39)	Y532F	probably damaging	Het
Ttll9	C	A	2: 152,842,018 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,680,571 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,909,709 (GRCm39)	I539M	probably benign	Het
Vmn1r19	T	A	6: 57,381,600 (GRCm39)	M51K	possibly damaging	Het
Vmn2r61	T	A	7: 41,949,941 (GRCm39)	M787K	probably damaging	Het
Xdh	T	A	17: 74,213,096 (GRCm39)		probably benign	Het
Zfp109	A	T	7: 23,933,895 (GRCm39)	V8E	probably damaging	Het
Zfp595	G	A	13: 67,464,577 (GRCm39)	A562V	possibly damaging	Het
Zfp759	A	G	13: 67,288,356 (GRCm39)	T636A	probably benign	Het

Other mutations in Rpl27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02644:Rpl27	APN	11	101,336,317 (GRCm39)	unclassified	probably benign
R0166:Rpl27	UTSW	11	101,336,146 (GRCm39)	missense	possibly damaging	0.90
R0492:Rpl27	UTSW	11	101,336,081 (GRCm39)	missense	possibly damaging	0.72
R6358:Rpl27	UTSW	11	101,334,782 (GRCm39)	unclassified	probably benign
R7148:Rpl27	UTSW	11	101,333,232 (GRCm39)	unclassified	probably benign

Predicted Primers

Posted On

2013-08-08