Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01710:Mrpl41'

104765

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 #

IGL01710

Quality Score

Status

Chromosome

Chromosomal Location

24864129-24865110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24864429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 81 (D81G)

Ref Sequence

ENSEMBL: ENSMUSP00000043561 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000045604
AA Change: D81G

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000043561
Gene: ENSMUSG00000036850
AA Change: D81G

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: ENSMUST00000146382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139643

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

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	A	18: 62,004,645 (GRCm39)	T48I	probably damaging	Het
Ccpg1	T	C	9: 72,904,723 (GRCm39)		probably benign	Het
Chkb	G	A	15: 89,310,843 (GRCm39)	Q379*	probably null	Het
Chst15	T	A	7: 131,872,236 (GRCm39)	D15V	probably benign	Het
Cntn4	G	A	6: 106,527,392 (GRCm39)	V425I	possibly damaging	Het
Cpa6	T	A	1: 10,395,497 (GRCm39)	N390I	probably damaging	Het
Efhd2	A	G	4: 141,587,872 (GRCm39)	F193S	probably damaging	Het
Ell3	T	C	2: 121,271,993 (GRCm39)	H128R	probably damaging	Het
Ercc5	T	G	1: 44,203,235 (GRCm39)	L291V	probably damaging	Het
Eva1c	A	G	16: 90,701,235 (GRCm39)	Y302C	probably damaging	Het
Fmo3	A	C	1: 162,810,612 (GRCm39)	L26R	probably damaging	Het
Galntl6	T	A	8: 58,989,002 (GRCm39)	D17V	probably damaging	Het
Gm6483	C	T	8: 19,741,629 (GRCm39)	P55S	probably damaging	Het
Gstt2	A	G	10: 75,669,579 (GRCm39)		probably benign	Het
Hmcn2	T	A	2: 31,233,114 (GRCm39)	L221Q	probably damaging	Het
Hoxa3	T	C	6: 52,147,554 (GRCm39)		probably benign	Het
Kctd12b	T	C	X: 152,472,479 (GRCm39)	D70G	probably damaging	Het
Kdm7a	T	A	6: 39,152,320 (GRCm39)	E125D	probably benign	Het
Klk1b21	T	A	7: 43,755,919 (GRCm39)	F249L	probably benign	Het
Nomo1	T	A	7: 45,687,980 (GRCm39)	L82Q	probably damaging	Het
Or5p58	G	T	7: 107,694,449 (GRCm39)	F109L	probably benign	Het
Papolg	A	T	11: 23,814,026 (GRCm39)	S718T	probably damaging	Het
Pex6	A	G	17: 47,036,252 (GRCm39)		probably benign	Het
Pi4k2a	T	A	19: 42,093,418 (GRCm39)	L253Q	probably damaging	Het
Prdx6b	T	A	2: 80,123,490 (GRCm39)	F100I	probably damaging	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Ptgfrn	T	C	3: 100,980,404 (GRCm39)	E312G	probably damaging	Het
Rasgrf1	A	G	9: 89,873,745 (GRCm39)	I685V	probably benign	Het
Setdb1	T	C	3: 95,246,164 (GRCm39)	E586G	probably damaging	Het
Sez6l2	C	A	7: 126,567,388 (GRCm39)	T841K	probably damaging	Het
Slc25a17	A	T	15: 81,211,527 (GRCm39)	L163*	probably null	Het
Slc35f3	A	T	8: 127,115,900 (GRCm39)	I276F	probably benign	Het
Tcerg1l	T	A	7: 137,996,789 (GRCm39)	K149N	possibly damaging	Het
Tex28	T	A	X: 73,195,939 (GRCm39)	K278*	probably null	Het
Tmprss9	A	G	10: 80,733,793 (GRCm39)		probably benign	Het
Tnfaip8l1	A	G	17: 56,478,782 (GRCm39)	K24R	probably benign	Het
Trim36	T	C	18: 46,321,455 (GRCm39)		probably benign	Het
Uba1	C	T	X: 20,537,604 (GRCm39)	T274I	possibly damaging	Het
Ubr2	T	C	17: 47,254,335 (GRCm39)	T1439A	probably benign	Het
Ubr4	A	G	4: 139,145,772 (GRCm39)	D1523G	possibly damaging	Het
Uchl4	A	T	9: 64,142,788 (GRCm39)	T90S	probably benign	Het

Other mutations in Mrpl41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01333:Mrpl41	APN	2	24,864,453 (GRCm39)	missense	probably benign	0.00
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

2014-01-21