Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00327:Mrpl44'

7437

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl44

Ensembl Gene

ENSMUSG00000026248

Gene Name

mitochondrial ribosomal protein L44

Synonyms

1810030E18Rik, 5730593H20Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00327

Quality Score

Status

Chromosome

Chromosomal Location

79776018-79781445 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79781004 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 290 (L290F)

Ref Sequence

ENSEMBL: ENSMUSP00000027464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027464] [ENSMUST00000143368]

Predicted Effect

probably benign
Transcript: ENSMUST00000027464
AA Change: L290F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000027464
Gene: ENSMUSG00000026248
AA Change: L290F

Domain	Start	End	E-Value	Type
low complexity region	13	29	N/A	INTRINSIC
low complexity region	45	60	N/A	INTRINSIC
PDB:4CE4\|H	67	333	1e-160	PDB
SCOP:d1jfza_	72	224	5e-23	SMART
Blast:RIBOc	86	228	2e-90	BLAST
Blast:DSRM	237	288	6e-8	BLAST
SCOP:d1di2a_	237	304	2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143368

SMART Domains

Protein: ENSMUSP00000123303
Gene: ENSMUSG00000073643

Domain	Start	End	E-Value	Type
WD40	13	52	4.95e-4	SMART
WD40	56	96	5.5e1	SMART
WD40	103	142	1.19e0	SMART
Blast:WD40	145	182	6e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189176

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg16l2	A	G	7: 101,300,160	L60S	probably damaging	Het
Aup1	A	G	6: 83,056,409	E267G	probably damaging	Het
Bpi	T	C	2: 158,274,844		probably benign	Het
Brinp2	A	G	1: 158,247,100	Y484H	probably benign	Het
Colq	C	T	14: 31,535,588		probably null	Het
Cubn	T	C	2: 13,427,056	D1242G	possibly damaging	Het
Dclre1c	T	A	2: 3,433,784	L95*	probably null	Het
Fry	C	T	5: 150,340,404	R171*	probably null	Het
Krt23	T	C	11: 99,492,784	E94G	probably damaging	Het
Krt6b	T	G	15: 101,679,832	Q131P	probably benign	Het
Lonp1	A	G	17: 56,619,265	L414P	probably damaging	Het
Lrit2	T	A	14: 37,071,963	M328K	probably benign	Het
Lysmd3	C	T	13: 81,665,078	L22F	probably benign	Het
Map3k20	A	G	2: 72,412,170	D388G	probably damaging	Het
Nell1	A	G	7: 50,120,673	H160R	probably damaging	Het
Nlrc3	T	C	16: 3,955,166	N109S	probably damaging	Het
Prpf40a	T	C	2: 53,150,688	T553A	probably benign	Het
Ptpn23	G	T	9: 110,388,106	T894K	probably benign	Het
Scgb2b27	A	G	7: 34,013,346	C24R	probably damaging	Het
Sipa1l3	G	T	7: 29,354,133	H140N	probably damaging	Het
Slc22a23	T	G	13: 34,305,245	D219A	probably damaging	Het
Slc9a7	T	C	X: 20,138,919	Y557C	probably damaging	Het
Slco1a1	A	T	6: 141,909,125	I600N	probably damaging	Het
Tmx2	T	C	2: 84,673,299	N190S	probably benign	Het
Tpr	T	G	1: 150,423,696		probably benign	Het
Yme1l1	T	C	2: 23,192,500	V501A	probably benign	Het

Other mutations in Mrpl44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02633:Mrpl44	APN	1	79776145	missense	probably benign	0.02
R0054:Mrpl44	UTSW	1	79779495	missense	probably damaging	1.00
R0054:Mrpl44	UTSW	1	79779495	missense	probably damaging	1.00
R0909:Mrpl44	UTSW	1	79779653	missense	probably benign	0.43
R1180:Mrpl44	UTSW	1	79777960	missense	probably damaging	0.99
R1347:Mrpl44	UTSW	1	79777952	missense	probably damaging	1.00
R1347:Mrpl44	UTSW	1	79777952	missense	probably damaging	1.00
R1448:Mrpl44	UTSW	1	79777960	missense	probably damaging	0.99
R3689:Mrpl44	UTSW	1	79779649	nonsense	probably null
R3690:Mrpl44	UTSW	1	79779649	nonsense	probably null
R4533:Mrpl44	UTSW	1	79776254	missense	possibly damaging	0.91
R4818:Mrpl44	UTSW	1	79780977	missense	probably benign	0.00
R4893:Mrpl44	UTSW	1	79777865	missense	probably damaging	0.97
R6178:Mrpl44	UTSW	1	79778178	missense	possibly damaging	0.76
X0018:Mrpl44	UTSW	1	79778075	missense	probably benign	0.18

Posted On

2012-04-20