Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02115:Mrpl54'

280367

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl54

Ensembl Gene

ENSMUSG00000034932

Gene Name

mitochondrial ribosomal protein L54

Synonyms

0610008M19Rik, D10Sut1e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.894) question?

Stock #

IGL02115

Quality Score

Status

Chromosome

Chromosomal Location

81100556-81102760 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 81101483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039951 (fasta)

Gene Model

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

AlphaFold

Q9CPW3

Predicted Effect

probably null
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: ENSMUST00000151660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145452

Predicted Effect

probably benign
Transcript: ENSMUST00000219304

Predicted Effect

probably benign
Transcript: ENSMUST00000218742

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: ENSMUST00000220297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217754

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. [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
4933440M02Rik	A	T	7: 124,930,781 (GRCm39)		noncoding transcript	Het
Abca7	A	T	10: 79,833,913 (GRCm39)	N76Y	probably damaging	Het
Apob	A	G	12: 8,042,923 (GRCm39)	K755R	probably benign	Het
BC034090	A	T	1: 155,108,397 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,680,635 (GRCm39)	T632A	probably benign	Het
Cdcp1	C	A	9: 123,014,462 (GRCm39)	C104F	probably damaging	Het
Cfap206	C	T	4: 34,722,623 (GRCm39)	V153I	possibly damaging	Het
Chd1l	A	T	3: 97,497,220 (GRCm39)		probably null	Het
Ckb	A	G	12: 111,636,415 (GRCm39)	F271L	possibly damaging	Het
Col6a3	T	A	1: 90,735,373 (GRCm39)	I759L	probably damaging	Het
Ddr2	A	T	1: 169,822,278 (GRCm39)	M390K	probably benign	Het
Dhx8	C	T	11: 101,643,214 (GRCm39)	P762L	probably damaging	Het
Dnah3	A	T	7: 119,628,277 (GRCm39)	V1449E	probably damaging	Het
Dzip3	T	C	16: 48,768,848 (GRCm39)	I629M	probably benign	Het
Ep300	T	C	15: 81,533,019 (GRCm39)	I1692T	unknown	Het
Ercc6	T	A	14: 32,298,950 (GRCm39)	L1446Q	probably damaging	Het
Gm10092	T	C	16: 35,957,993 (GRCm39)		noncoding transcript	Het
Gm6900	A	T	7: 10,390,503 (GRCm39)		noncoding transcript	Het
Gpr149	T	C	3: 62,502,336 (GRCm39)	T507A	probably benign	Het
Hmcn1	T	A	1: 150,506,479 (GRCm39)	D3776V	probably damaging	Het
Irgm2	A	G	11: 58,110,948 (GRCm39)	E225G	probably benign	Het
Kif14	T	C	1: 136,424,305 (GRCm39)		probably benign	Het
Klhl22	T	C	16: 17,594,459 (GRCm39)	V196A	probably damaging	Het
Lig4	T	C	8: 10,023,247 (GRCm39)	S178G	possibly damaging	Het
Lzts2	A	G	19: 45,014,809 (GRCm39)		probably benign	Het
Mcoln3	C	T	3: 145,843,056 (GRCm39)	S380L	probably damaging	Het
Med12l	A	T	3: 58,975,740 (GRCm39)	T223S	probably benign	Het
Myo1c	A	T	11: 75,552,417 (GRCm39)	I397F	probably damaging	Het
Nbas	A	T	12: 13,367,693 (GRCm39)		probably benign	Het
Ncoa2	G	A	1: 13,223,041 (GRCm39)	H1195Y	probably damaging	Het
Nol3	A	G	8: 106,006,263 (GRCm39)	M171V	probably benign	Het
Or2l5	A	T	16: 19,333,853 (GRCm39)	C178S	probably damaging	Het
Or52s1	A	G	7: 102,861,681 (GRCm39)	T194A	probably damaging	Het
Pdpr	C	T	8: 111,830,630 (GRCm39)	L107F	probably damaging	Het
Ppfibp2	G	A	7: 107,338,525 (GRCm39)		probably benign	Het
Rusc2	T	C	4: 43,426,136 (GRCm39)		probably benign	Het
Sdk2	G	T	11: 113,725,639 (GRCm39)		probably benign	Het
Sema7a	T	C	9: 57,868,183 (GRCm39)	C539R	probably damaging	Het
Senp6	T	C	9: 80,029,208 (GRCm39)	C524R	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Slc15a1	A	T	14: 121,718,073 (GRCm39)	Y269N	possibly damaging	Het
Synj2	T	A	17: 6,067,865 (GRCm39)	Y113N	probably damaging	Het
Tm6sf1	A	T	7: 81,525,551 (GRCm39)	Y172F	probably damaging	Het
Trpv4	T	C	5: 114,763,090 (GRCm39)	D773G	probably damaging	Het
Ttc39a	A	G	4: 109,283,491 (GRCm39)		probably benign	Het
Tut1	C	T	19: 8,942,676 (GRCm39)	R588W	probably damaging	Het
Unc79	A	T	12: 102,964,933 (GRCm39)	Y74F	probably damaging	Het
Usp53	A	T	3: 122,741,039 (GRCm39)	I737K	probably benign	Het
Vmn2r67	A	T	7: 84,800,787 (GRCm39)	M383K	probably damaging	Het
Zc3h4	A	G	7: 16,159,708 (GRCm39)	D426G	unknown	Het
Zfp622	A	G	15: 25,987,286 (GRCm39)	N308S	probably damaging	Het

Other mutations in Mrpl54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0534:Mrpl54	UTSW	10	81,102,687 (GRCm39)	missense	probably damaging	1.00
R0855:Mrpl54	UTSW	10	81,102,759 (GRCm39)	unclassified	probably benign
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

Posted On

2015-04-16