Mutagenetix > Incidental Mutation

Incidental Mutation 'R5060:Mrpl41'

386543

Institutional Source

Beutler Lab

Gene Symbol

Mrpl41

Ensembl Gene

ENSMUSG00000036850

Gene Name

mitochondrial ribosomal protein L41

Synonyms

Rpml27, MRP-L27

MMRRC Submission

042650-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5060 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24864129-24865110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24864295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 126 (F126L)

Ref Sequence

ENSEMBL: ENSMUSP00000043561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028351] [ENSMUST00000045295] [ENSMUST00000045604] [ENSMUST00000124383] [ENSMUST00000126909] [ENSMUST00000137913] [ENSMUST00000152777] [ENSMUST00000194392] [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 damaging
Transcript: ENSMUST00000045604
AA Change: F126L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043561
Gene: ENSMUSG00000036850
AA Change: F126L

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: 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: 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

Meta Mutation Damage Score

0.3481

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

98% (52/53)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,474,107 (GRCm39)	L17Q	probably damaging	Het
Abca6	A	G	11: 110,110,430 (GRCm39)	V573A	possibly damaging	Het
Abcc9	A	G	6: 142,571,836 (GRCm39)		probably benign	Het
Actg1	A	G	11: 120,237,839 (GRCm39)	S234P	probably benign	Het
Acvr2a	A	G	2: 48,780,311 (GRCm39)	D177G	probably damaging	Het
Adamts12	T	C	15: 11,300,054 (GRCm39)	C914R	probably damaging	Het
Adprhl1	A	G	8: 13,298,621 (GRCm39)	I103T	possibly damaging	Het
Als2cl	C	T	9: 110,713,205 (GRCm39)	L32F	probably damaging	Het
Ank2	T	C	3: 126,739,570 (GRCm39)		probably benign	Het
Ankrd52	T	A	10: 128,225,710 (GRCm39)	S959R	possibly damaging	Het
Bnc2	C	A	4: 84,449,872 (GRCm39)	A122S	probably benign	Het
Cert1	A	T	13: 96,739,663 (GRCm39)	K226N	probably benign	Het
Cfap54	C	T	10: 92,875,013 (GRCm39)	V443M	probably damaging	Het
Cilk1	C	T	9: 78,060,978 (GRCm39)	T208I	probably benign	Het
Clca4b	T	A	3: 144,617,267 (GRCm39)	R794S	probably damaging	Het
Cyp2c65	T	C	19: 39,049,514 (GRCm39)	L14P	unknown	Het
Ggt5	T	C	10: 75,440,608 (GRCm39)	M243T	probably benign	Het
Gmds	A	G	13: 32,124,482 (GRCm39)	I292T	probably benign	Het
Gpcpd1	A	T	2: 132,386,355 (GRCm39)	V341E	probably damaging	Het
Grm3	A	G	5: 9,620,167 (GRCm39)	F359S	probably damaging	Het
Hcn1	A	T	13: 118,010,441 (GRCm39)	K340*	probably null	Het
Heatr9	T	C	11: 83,403,258 (GRCm39)	E427G	probably benign	Het
Kif26b	G	A	1: 178,358,195 (GRCm39)	G102D	unknown	Het
Mark3	T	C	12: 111,584,760 (GRCm39)	F119L	probably damaging	Het
Melk	T	C	4: 44,350,959 (GRCm39)	V500A	probably benign	Het
Or10c1	C	A	17: 37,522,307 (GRCm39)	A146S	probably benign	Het
Or6c3b	C	T	10: 129,527,699 (GRCm39)	M70I	probably benign	Het
Pax7	A	T	4: 139,506,928 (GRCm39)	S372T	probably benign	Het
Pax7	A	T	4: 139,556,906 (GRCm39)	I118N	probably damaging	Het
Plcl1	G	T	1: 55,735,671 (GRCm39)	M337I	possibly damaging	Het
Poc1a	G	T	9: 106,227,012 (GRCm39)		probably benign	Het
Rabgef1	A	G	5: 130,240,844 (GRCm39)	Y321C	probably damaging	Het
Rhobtb3	A	C	13: 76,061,389 (GRCm39)	L252R	probably benign	Het
Rlf	A	G	4: 121,004,063 (GRCm39)	V1639A	probably benign	Het
Tff1	A	G	17: 31,381,682 (GRCm39)	V65A	probably damaging	Het
Trpm4	G	T	7: 44,971,258 (GRCm39)	D222E	probably damaging	Het
Ttn	A	T	2: 76,643,741 (GRCm39)	D13162E	probably damaging	Het
Unc5d	A	T	8: 29,209,723 (GRCm39)	S466T	probably benign	Het
Vmn1r73	A	G	7: 11,490,683 (GRCm39)	Y167C	probably damaging	Het
Vwde	C	T	6: 13,208,323 (GRCm39)		probably null	Het
Xpr1	T	C	1: 155,204,430 (GRCm39)		probably null	Het
Zbtb40	A	G	4: 136,728,604 (GRCm39)	V413A	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTACTGCATGGAGTCTGC -3'
(R):5'- AGCTCAAGCCCTACGTTAATTACC -3'

Sequencing Primer
(F):5'- TGCAGCACACTTCAATGACTTG -3'
(R):5'- GTTAATTACCGAGCTCCTGCAGG -3'

Posted On

2016-06-06