Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02037:Mrpl41'

184571

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 #

IGL02037

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	A	6: 92,804,997 (GRCm39)		probably benign	Het
Ace2	T	A	X: 162,946,996 (GRCm39)	V293D	probably damaging	Het
Adgrg6	T	C	10: 14,317,185 (GRCm39)	Y545C	probably damaging	Het
Arhgap40	A	G	2: 158,376,742 (GRCm39)	T293A	probably damaging	Het
Arhgef19	A	G	4: 140,973,707 (GRCm39)	T65A	probably damaging	Het
Brf1	A	G	12: 112,956,682 (GRCm39)		probably null	Het
Cbfb	T	C	8: 105,905,252 (GRCm39)	S65P	possibly damaging	Het
Chsy1	T	C	7: 65,821,576 (GRCm39)	S604P	possibly damaging	Het
Ckmt1	T	C	2: 121,191,643 (GRCm39)	V271A	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Csmd2	T	C	4: 128,371,263 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,038,559 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,410,007 (GRCm39)	T492A	probably benign	Het
Fam3a	G	A	X: 73,430,241 (GRCm39)	T156I	probably damaging	Het
Fbn2	A	T	18: 58,229,087 (GRCm39)	C708S	probably damaging	Het
Fgf5	G	A	5: 98,409,831 (GRCm39)	G127R	probably damaging	Het
Fhip1a	T	G	3: 85,637,939 (GRCm39)	K120T	probably damaging	Het
Fn3k	A	T	11: 121,325,909 (GRCm39)	Y32F	probably benign	Het
Frem3	T	C	8: 81,338,118 (GRCm39)	I137T	probably benign	Het
Hc	T	C	2: 34,903,531 (GRCm39)	D1041G	probably benign	Het
Heatr6	T	A	11: 83,655,708 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,309,553 (GRCm39)	A598T	probably benign	Het
Ifngr1	T	C	10: 19,483,007 (GRCm39)	S254P	probably benign	Het
Kel	T	C	6: 41,674,408 (GRCm39)	S341G	probably benign	Het
Klra6	A	C	6: 129,990,439 (GRCm39)	M224R	probably benign	Het
Mis18bp1	A	G	12: 65,183,522 (GRCm39)		probably null	Het
Mpeg1	C	T	19: 12,440,660 (GRCm39)	T706I	probably benign	Het
Or5al7	G	T	2: 85,993,181 (GRCm39)	F37L	probably benign	Het
Palld	T	C	8: 61,978,148 (GRCm39)	R881G	probably damaging	Het
Pdha2	A	T	3: 140,916,662 (GRCm39)	V282E	probably damaging	Het
Pga5	C	T	19: 10,654,065 (GRCm39)	R46Q	probably benign	Het
Plekhg2	T	C	7: 28,068,122 (GRCm39)	Y189C	probably damaging	Het
Rnf43	A	G	11: 87,622,479 (GRCm39)	T527A	probably benign	Het
Rplp0	G	A	5: 115,699,174 (GRCm39)	R73Q	probably benign	Het
Smco3	A	G	6: 136,808,197 (GRCm39)	*226R	probably null	Het
Sugp2	T	C	8: 70,712,324 (GRCm39)		probably benign	Het
Tsga10	T	C	1: 37,846,098 (GRCm39)	I343V	probably benign	Het
Ube2q2	A	G	9: 55,075,502 (GRCm39)	K104E	probably damaging	Het
Ube3a	C	T	7: 58,925,506 (GRCm39)		probably benign	Het
Usp11	T	C	X: 20,585,381 (GRCm39)	I785T	probably damaging	Het
Vmn2r22	A	T	6: 123,626,026 (GRCm39)	C137S	probably damaging	Het
Zfp281	T	C	1: 136,555,185 (GRCm39)	V721A	possibly damaging	Het
Zfp946	T	C	17: 22,672,469 (GRCm39)	S23P	probably damaging	Het
Zfyve1	A	G	12: 83,594,694 (GRCm39)	V766A	probably 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
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

2014-05-07