Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01333:Mrpl41'

74553

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl41

Ensembl Gene

ENSMUSG00000036850

Gene Name

mitochondrial ribosomal protein L41

Synonyms

Rpml27, MRP-L27

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01333

Quality Score

Status

Chromosome

Chromosomal Location

24864129-24865110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24864453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 73 (N73S)

Ref Sequence

ENSEMBL: ENSMUSP00000043561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028351] [ENSMUST00000045295] [ENSMUST00000045604] [ENSMUST00000124383] [ENSMUST00000126909] [ENSMUST00000137913] [ENSMUST00000194392] [ENSMUST00000152777] [ENSMUST00000153618]

AlphaFold

Q9CQN7

Predicted Effect

probably benign
Transcript: ENSMUST00000028351

SMART Domains

Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975

Domain	Start	End	E-Value	Type
Blast:WD40	74	118	3e-10	BLAST
Blast:WD40	128	175	3e-15	BLAST
WD40	183	223	7.43e-1	SMART
WD40	227	267	1.08e-4	SMART
WD40	271	310	1.37e2	SMART
WD40	420	455	1.97e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000045295

SMART Domains

Protein: ENSMUSP00000044078
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
low complexity region	59	66	N/A	INTRINSIC
cNMP	170	295	2.06e-12	SMART
low complexity region	439	444	N/A	INTRINSIC
cNMP	481	600	1.16e-6	SMART
cNMP	603	716	1.55e-7	SMART
Pfam:Patatin	950	1116	3.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045604
AA Change: N73S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000043561
Gene: ENSMUSG00000036850
AA Change: N73S

Domain	Start	End	E-Value	Type
Pfam:MRP-L27	13	125	1.3e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124383

Predicted Effect

probably benign
Transcript: ENSMUST00000126909

Predicted Effect

probably benign
Transcript: ENSMUST00000137913

SMART Domains

Protein: ENSMUSP00000141577
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
low complexity region	33	40	N/A	INTRINSIC
Pfam:cNMP_binding	162	200	2.7e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146382

Predicted Effect

probably benign
Transcript: ENSMUST00000194392

SMART Domains

Protein: ENSMUSP00000141974
Gene: ENSMUSG00000036850

Domain	Start	End	E-Value	Type
Pfam:MRP-L27	56	98	1.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152777

SMART Domains

Protein: ENSMUSP00000122394
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
cNMP	89	179	4.98e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153618

SMART Domains

Protein: ENSMUSP00000117428
Gene: ENSMUSG00000036833

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	57	64	N/A	INTRINSIC

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 that belongs to the YmL27 ribosomal protein family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit flattened pancake appearance at E9. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	T	7: 119,981,531 (GRCm39)	C995F	probably damaging	Het
Adamts7	G	T	9: 90,069,032 (GRCm39)	G525C	probably damaging	Het
Akap1	T	C	11: 88,736,431 (GRCm39)	E110G	probably damaging	Het
Ankrd7	A	G	6: 18,879,345 (GRCm39)	H263R	probably damaging	Het
Cav3	T	C	6: 112,436,888 (GRCm39)		probably null	Het
Ccdc66	T	C	14: 27,215,272 (GRCm39)	R423G	possibly damaging	Het
Cep76	C	T	18: 67,773,187 (GRCm39)	R37Q	probably benign	Het
Chfr	A	G	5: 110,291,439 (GRCm39)	K86E	possibly damaging	Het
Eif2b3	T	A	4: 116,927,887 (GRCm39)	S369T	probably benign	Het
Hgf	A	T	5: 16,781,939 (GRCm39)	R221*	probably null	Het
Hspg2	T	C	4: 137,267,625 (GRCm39)	Y2078H	probably damaging	Het
Kif22	A	C	7: 126,633,367 (GRCm39)	V55G	probably damaging	Het
Mme	T	C	3: 63,253,512 (GRCm39)	I452T	probably damaging	Het
Mup6	T	C	4: 60,005,529 (GRCm39)	F112S	probably damaging	Het
Nktr	A	G	9: 121,560,630 (GRCm39)	I125V	possibly damaging	Het
Nup205	T	C	6: 35,217,998 (GRCm39)	F1784L	probably benign	Het
Nwd1	A	G	8: 73,393,439 (GRCm39)	D275G	possibly damaging	Het
Or4d11	G	A	19: 12,013,305 (GRCm39)	T267I	probably benign	Het
Or5h19	T	C	16: 58,856,269 (GRCm39)	Y277C	probably damaging	Het
Pde6c	G	A	19: 38,164,143 (GRCm39)	E666K	probably benign	Het
Pth2r	A	T	1: 65,427,884 (GRCm39)	D519V	probably benign	Het
Reln	A	T	5: 22,376,249 (GRCm39)	I169N	probably damaging	Het
Shoc1	T	C	4: 59,047,870 (GRCm39)	N1250D	possibly damaging	Het
Slc25a13	A	G	6: 6,042,739 (GRCm39)		probably null	Het
Smg1	A	G	7: 117,762,601 (GRCm39)		probably benign	Het
Sp1	A	G	15: 102,339,364 (GRCm39)	E434G	probably damaging	Het
Stt3b	A	T	9: 115,086,612 (GRCm39)	Y336N	probably damaging	Het
Vmn2r104	T	A	17: 20,263,055 (GRCm39)	R135S	probably benign	Het
Zfhx4	C	T	3: 5,464,387 (GRCm39)	T1515I	probably damaging	Het
Zfp280d	A	G	9: 72,242,396 (GRCm39)		probably benign	Het

Other mutations in Mrpl41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Mrpl41	APN	2	24,864,429 (GRCm39)	missense	possibly damaging	0.62
IGL02019:Mrpl41	APN	2	24,864,429 (GRCm39)	missense	possibly damaging	0.62
IGL02037:Mrpl41	APN	2	24,864,429 (GRCm39)	missense	possibly damaging	0.62
R1727:Mrpl41	UTSW	2	24,864,636 (GRCm39)	missense	probably damaging	1.00
R4424:Mrpl41	UTSW	2	24,864,418 (GRCm39)	missense	possibly damaging	0.91
R5060:Mrpl41	UTSW	2	24,864,295 (GRCm39)	missense	probably damaging	1.00
R7141:Mrpl41	UTSW	2	24,864,468 (GRCm39)	missense	probably damaging	1.00
R8807:Mrpl41	UTSW	2	24,864,878 (GRCm39)	missense	unknown
R9649:Mrpl41	UTSW	2	24,864,481 (GRCm39)	missense	probably benign	0.00

Posted On

2013-10-07