Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00955:Mrpl24'

27137

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl24

Ensembl Gene

ENSMUSG00000019710

Gene Name

mitochondrial ribosomal protein L24

Synonyms

6720473G22Rik, 2810470K06Rik, 2010005E08Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL00955

Quality Score

Status

Chromosome

Chromosomal Location

87826813-87830979 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 87829526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 91 (L91*)

Ref Sequence

ENSEMBL: ENSMUSP00000112885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005016] [ENSMUST00000019854] [ENSMUST00000119968] [ENSMUST00000121048] [ENSMUST00000121920] [ENSMUST00000137775] [ENSMUST00000160143] [ENSMUST00000160648] [ENSMUST00000164439] [ENSMUST00000160074]

AlphaFold

Q9CQ06

Predicted Effect

probably benign
Transcript: ENSMUST00000005016

SMART Domains

Protein: ENSMUSP00000005016
Gene: ENSMUSG00000004896

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_32	133	293	1.5e-29	PFAM
low complexity region	385	402	N/A	INTRINSIC
low complexity region	412	426	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000019854
AA Change: L91*

SMART Domains

Protein: ENSMUSP00000019854
Gene: ENSMUSG00000019710
AA Change: L91*

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
KOW	55	82	7.17e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000119968
AA Change: L91*

SMART Domains

Protein: ENSMUSP00000114111
Gene: ENSMUSG00000019710
AA Change: L91*

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
KOW	55	82	7.17e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000121048
AA Change: L91*

SMART Domains

Protein: ENSMUSP00000113959
Gene: ENSMUSG00000019710
AA Change: L91*

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
KOW	55	82	7.17e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000121920
AA Change: L91*

SMART Domains

Protein: ENSMUSP00000112885
Gene: ENSMUSG00000019710
AA Change: L91*

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
KOW	55	82	7.17e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137775

SMART Domains

Protein: ENSMUSP00000142071
Gene: ENSMUSG00000019710

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
PDB:4CE4\|Y	17	62	5e-21	PDB
SCOP:d1jj2s_	24	54	2e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159091

Predicted Effect

probably benign
Transcript: ENSMUST00000160143

SMART Domains

Protein: ENSMUSP00000124113
Gene: ENSMUSG00000004896

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_32	133	247	5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160648

Predicted Effect

probably benign
Transcript: ENSMUST00000164439

Predicted Effect

probably benign
Transcript: ENSMUST00000160074

SMART Domains

Protein: ENSMUSP00000125365
Gene: ENSMUSG00000004896

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_32	69	229	1.3e-29	PFAM
low complexity region	321	338	N/A	INTRINSIC
low complexity region	348	362	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 which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl11	A	T	14: 61,548,691 (GRCm39)	Q167L	probably benign	Het
Ces3a	T	A	8: 105,777,202 (GRCm39)	V175E	probably damaging	Het
Cherp	C	T	8: 73,224,038 (GRCm39)	E140K	probably damaging	Het
Clpx	A	T	9: 65,231,552 (GRCm39)	T546S	probably damaging	Het
Csgalnact2	A	G	6: 118,106,225 (GRCm39)	L31P	probably damaging	Het
Cxcr1	A	T	1: 74,231,379 (GRCm39)	F214L	probably benign	Het
Cyp2c67	T	A	19: 39,631,829 (GRCm39)	T123S	possibly damaging	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Dzank1	G	A	2: 144,332,094 (GRCm39)	T414I	probably benign	Het
Erich3	A	G	3: 154,454,156 (GRCm39)	I641V	probably benign	Het
Gtf2e1	A	T	16: 37,356,282 (GRCm39)	D83E	possibly damaging	Het
Hars2	T	C	18: 36,922,410 (GRCm39)		probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnh2	T	C	5: 24,529,964 (GRCm39)	D372G	probably damaging	Het
Kcnk2	A	T	1: 188,975,211 (GRCm39)	I264N	probably damaging	Het
Kctd4	A	G	14: 76,200,668 (GRCm39)	D213G	probably damaging	Het
Lhx9	T	C	1: 138,756,418 (GRCm39)	T323A	possibly damaging	Het
Lilra6	C	A	7: 3,914,403 (GRCm39)		probably benign	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Mov10l1	A	G	15: 88,879,192 (GRCm39)	Y184C	probably damaging	Het
Mup11	C	T	4: 60,615,549 (GRCm39)	R175H	probably benign	Het
Nbea	T	C	3: 55,912,893 (GRCm39)	K965E	possibly damaging	Het
Or52ab7	C	A	7: 102,978,528 (GRCm39)	H278Q	probably damaging	Het
Papss1	G	A	3: 131,305,710 (GRCm39)	E252K	probably benign	Het
Robo2	A	T	16: 73,812,860 (GRCm39)	L278Q	probably damaging	Het
Sned1	A	T	1: 93,202,125 (GRCm39)	I638F	probably damaging	Het
Spin1	T	C	13: 51,298,577 (GRCm39)		probably null	Het
Taar9	T	C	10: 23,985,429 (GRCm39)	T2A	probably benign	Het
Tbc1d8b	T	C	X: 138,626,629 (GRCm39)		probably null	Het

Other mutations in Mrpl24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1466:Mrpl24	UTSW	3	87,829,235 (GRCm39)	nonsense	probably null
R1466:Mrpl24	UTSW	3	87,829,235 (GRCm39)	nonsense	probably null
R1467:Mrpl24	UTSW	3	87,829,744 (GRCm39)	missense	probably benign	0.00
R1467:Mrpl24	UTSW	3	87,829,744 (GRCm39)	missense	probably benign	0.00
R2070:Mrpl24	UTSW	3	87,830,374 (GRCm39)	critical splice donor site	probably null
R2071:Mrpl24	UTSW	3	87,830,374 (GRCm39)	critical splice donor site	probably null
R4537:Mrpl24	UTSW	3	87,829,719 (GRCm39)	missense	probably benign	0.30
R4628:Mrpl24	UTSW	3	87,829,436 (GRCm39)	splice site	probably null
R4785:Mrpl24	UTSW	3	87,829,357 (GRCm39)	critical splice donor site	probably null
R5841:Mrpl24	UTSW	3	87,830,292 (GRCm39)	missense	probably damaging	1.00
R6007:Mrpl24	UTSW	3	87,829,705 (GRCm39)	missense	probably benign	0.02
R7513:Mrpl24	UTSW	3	87,829,734 (GRCm39)	missense	probably benign	0.07
R8826:Mrpl24	UTSW	3	87,829,701 (GRCm39)	nonsense	probably null
X0064:Mrpl24	UTSW	3	87,829,735 (GRCm39)	missense	probably benign	0.03

Posted On

2013-04-17