Mutagenetix > Incidental Mutation

Incidental Mutation 'R0855:Mrpl54'

99136

Institutional Source

Beutler Lab

Gene Symbol

Mrpl54

Ensembl Gene

ENSMUSG00000034932

Gene Name

mitochondrial ribosomal protein L54

Synonyms

0610008M19Rik, D10Sut1e

MMRRC Submission

039034-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R0855 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

81100556-81102760 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 81102759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046114] [ENSMUST00000057798] [ENSMUST00000105328] [ENSMUST00000117488] [ENSMUST00000119547] [ENSMUST00000120265] [ENSMUST00000121205] [ENSMUST00000218742] [ENSMUST00000128576] [ENSMUST00000219460] [ENSMUST00000219304] [ENSMUST00000220297]

AlphaFold

Q9CPW3

Predicted Effect

probably benign
Transcript: ENSMUST00000046114

SMART Domains

Protein: ENSMUSP00000039951
Gene: ENSMUSG00000034932

Domain	Start	End	E-Value	Type
low complexity region	36	54	N/A	INTRINSIC
Pfam:Ribosomal_L37	60	103	4.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057798

SMART Domains

Protein: ENSMUSP00000050995
Gene: ENSMUSG00000004931

Domain	Start	End	E-Value	Type
low complexity region	5	14	N/A	INTRINSIC
low complexity region	98	120	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
PTB	213	359	3.03e-40	SMART
PDZ	400	478	3.74e-14	SMART
PDZ	492	557	9.58e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105328

SMART Domains

Protein: ENSMUSP00000100965
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	9	67	1.37e-5	SMART
SH2	78	160	4.87e-31	SMART
TyrKc	193	436	2.88e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117488

SMART Domains

Protein: ENSMUSP00000113221
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	49	107	1.37e-5	SMART
SH2	118	200	4.87e-31	SMART
TyrKc	233	476	2.88e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119547

SMART Domains

Protein: ENSMUSP00000113576
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	9	67	1.37e-5	SMART
SH2	78	160	4.87e-31	SMART
TyrKc	193	436	2.88e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120265

SMART Domains

Protein: ENSMUSP00000113666
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	10	68	1.37e-5	SMART
SH2	79	161	4.87e-31	SMART
TyrKc	194	437	2.88e-129	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121205

SMART Domains

Protein: ENSMUSP00000113043
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	10	68	1.37e-5	SMART
SH2	79	161	4.87e-31	SMART
TyrKc	194	437	2.88e-129	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151660

Predicted Effect

probably benign
Transcript: ENSMUST00000218742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219294

Predicted Effect

probably benign
Transcript: ENSMUST00000128576

SMART Domains

Protein: ENSMUSP00000122445
Gene: ENSMUSG00000004933

Domain	Start	End	E-Value	Type
SH3	10	68	1.37e-5	SMART
SH2	79	161	1.55e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000219460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217754

Predicted Effect

probably benign
Transcript: ENSMUST00000219304

Predicted Effect

probably benign
Transcript: ENSMUST00000220297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219919

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (35/36)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700046A07Rik	A	G	18: 62,886,414 (GRCm39)		noncoding transcript	Het
Ak3	T	C	19: 29,000,345 (GRCm39)	K189E	probably benign	Het
Anks3	A	T	16: 4,773,811 (GRCm39)		probably benign	Het
Ash1l	C	A	3: 88,961,761 (GRCm39)	H2378N	possibly damaging	Het
Baz1a	A	G	12: 54,947,348 (GRCm39)		probably benign	Het
Bicra	A	G	7: 15,705,929 (GRCm39)	F1504S	probably damaging	Het
Blzf1	T	C	1: 164,119,950 (GRCm39)	T353A	possibly damaging	Het
Btn1a1	C	A	13: 23,648,489 (GRCm39)	V115F	probably damaging	Het
Cd38	T	A	5: 44,060,927 (GRCm39)		probably null	Het
Cep250	T	C	2: 155,806,031 (GRCm39)	C109R	probably damaging	Het
Cnksr1	C	T	4: 133,960,377 (GRCm39)		probably benign	Het
Dmxl2	T	A	9: 54,273,724 (GRCm39)	N3048I	probably benign	Het
Impdh1	T	A	6: 29,206,971 (GRCm39)	H116L	probably damaging	Het
Kank4	C	A	4: 98,659,681 (GRCm39)	W799L	probably damaging	Het
Kcnk7	C	T	19: 5,756,103 (GRCm39)	H110Y	probably benign	Het
Mak	T	C	13: 41,223,640 (GRCm39)	E25G	probably damaging	Het
Myh10	A	C	11: 68,702,627 (GRCm39)	D1767A	possibly damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Ndufaf6	A	T	4: 11,051,169 (GRCm39)	H310Q	probably damaging	Het
Osbpl6	G	T	2: 76,415,477 (GRCm39)	G467V	probably damaging	Het
Osbpl6	A	G	2: 76,422,183 (GRCm39)	E673G	probably damaging	Het
Picalm	T	A	7: 89,840,356 (GRCm39)	D458E	possibly damaging	Het
Ppp2ca	G	A	11: 52,012,752 (GRCm39)	R294H	probably benign	Het
Prdm14	T	A	1: 13,195,761 (GRCm39)	N100I	probably benign	Het
Rbbp6	A	G	7: 122,591,471 (GRCm39)	T510A	probably benign	Het
Sars1	C	A	3: 108,334,248 (GRCm39)	E503D	probably benign	Het
Smtn	T	C	11: 3,471,880 (GRCm39)	D853G	probably damaging	Het
Tbx20	A	G	9: 24,636,908 (GRCm39)	M393T	probably benign	Het
Thada	T	C	17: 84,744,083 (GRCm39)	T742A	probably damaging	Het
Tmem63a	T	C	1: 180,788,625 (GRCm39)	S321P	possibly damaging	Het
Trim24	T	A	6: 37,892,137 (GRCm39)	C223*	probably null	Het
Usp48	T	C	4: 137,335,465 (GRCm39)	F213L	probably damaging	Het
Vmn2r109	A	T	17: 20,761,670 (GRCm39)	Y562*	probably null	Het

Other mutations in Mrpl54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02115:Mrpl54	APN	10	81,101,483 (GRCm39)	critical splice donor site	probably null
R0534:Mrpl54	UTSW	10	81,102,687 (GRCm39)	missense	probably damaging	1.00
R1480:Mrpl54	UTSW	10	81,101,489 (GRCm39)	missense	probably benign	0.04
R2198:Mrpl54	UTSW	10	81,101,575 (GRCm39)	splice site	probably null
R9629:Mrpl54	UTSW	10	81,101,528 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

Posted On

2014-01-10