Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02019:Mrpl41'

183897

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 #

IGL02019

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	C	T	5: 115,017,645 (GRCm39)	A178V	possibly damaging	Het
Acad11	A	G	9: 103,992,544 (GRCm39)	I495M	probably damaging	Het
Adgrd1	T	C	5: 129,192,202 (GRCm39)	S91P	probably benign	Het
Agk	A	G	6: 40,353,160 (GRCm39)	I175V	probably damaging	Het
Ascc3	A	T	10: 50,566,235 (GRCm39)	N727Y	probably damaging	Het
Atrnl1	A	T	19: 57,680,195 (GRCm39)		probably benign	Het
B4galt3	G	A	1: 171,099,362 (GRCm39)	G42D	probably damaging	Het
Brd10	A	T	19: 29,694,463 (GRCm39)	S976T	probably benign	Het
Brip1	C	T	11: 86,088,775 (GRCm39)	C42Y	possibly damaging	Het
Camkk1	T	C	11: 72,928,027 (GRCm39)	F233L	probably damaging	Het
Cd300ld	A	T	11: 114,878,227 (GRCm39)	M95K	probably damaging	Het
Cdv3	A	G	9: 103,237,224 (GRCm39)		probably benign	Het
Cog3	G	T	14: 75,968,044 (GRCm39)	Q430K	possibly damaging	Het
D6Wsu163e	G	A	6: 126,932,184 (GRCm39)	G308S	probably damaging	Het
Dnah2	A	G	11: 69,365,111 (GRCm39)	M1951T	probably damaging	Het
Elavl3	G	A	9: 21,948,014 (GRCm39)	T51I	probably damaging	Het
Eri2	A	T	7: 119,385,303 (GRCm39)	C399*	probably null	Het
Ezh2	A	T	6: 47,528,835 (GRCm39)		probably null	Het
Fgd6	C	A	10: 93,969,216 (GRCm39)	T1161K	probably damaging	Het
Gbf1	A	T	19: 46,267,731 (GRCm39)	H1193L	possibly damaging	Het
Gbp2b	T	A	3: 142,312,751 (GRCm39)	F378Y	possibly damaging	Het
Hectd2	G	A	19: 36,592,916 (GRCm39)	V694M	possibly damaging	Het
Hook1	T	A	4: 95,910,434 (GRCm39)	S683T	probably benign	Het
Ifi202b	G	A	1: 173,802,550 (GRCm39)	R95C	possibly damaging	Het
Kdm8	G	T	7: 125,051,658 (GRCm39)	V84L	probably damaging	Het
Kifc3	G	A	8: 95,834,168 (GRCm39)		probably benign	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lrig1	G	T	6: 94,593,410 (GRCm39)	Q424K	probably damaging	Het
Lrriq1	A	T	10: 103,014,661 (GRCm39)	M1049K	probably benign	Het
Mcidas	A	G	13: 113,133,377 (GRCm39)	N103D	probably benign	Het
Mdn1	T	C	4: 32,749,948 (GRCm39)	L4377S	possibly damaging	Het
Mug2	G	A	6: 122,024,394 (GRCm39)	V489I	probably benign	Het
P2rx5	G	T	11: 73,058,803 (GRCm39)		probably benign	Het
Pfas	A	T	11: 68,884,289 (GRCm39)		probably benign	Het
Pknox2	A	G	9: 36,834,929 (GRCm39)	L180P	probably damaging	Het
Psmd5	C	A	2: 34,744,286 (GRCm39)	C412F	probably benign	Het
Rbks	T	A	5: 31,817,361 (GRCm39)	D136V	probably damaging	Het
Rgl1	A	G	1: 152,404,220 (GRCm39)		probably benign	Het
Scube3	A	G	17: 28,386,658 (GRCm39)	D721G	probably damaging	Het
Snrnp200	T	A	2: 127,074,825 (GRCm39)	V1466D	possibly damaging	Het
Stambp	A	T	6: 83,529,013 (GRCm39)	L344Q	probably damaging	Het
Tctn1	A	T	5: 122,396,912 (GRCm39)	I157N	probably damaging	Het
Top2b	T	A	14: 16,409,965 (GRCm38)	D877E	probably benign	Het
Vmn1r78	G	A	7: 11,886,634 (GRCm39)	G82S	probably damaging	Het
Vnn1	T	C	10: 23,779,449 (GRCm39)	F453L	possibly damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	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
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

2014-05-07