Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02633:Mrpl49'

301403

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl49

Ensembl Gene

ENSMUSG00000007338

Gene Name

mitochondrial ribosomal protein L49

Synonyms

4833419D18Rik, Nof1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL02633

Quality Score

Status

Chromosome

Chromosomal Location

6103660-6107785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6104931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 146 (T146A)

Ref Sequence

ENSEMBL: ENSMUSP00000007482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007482] [ENSMUST00000025723] [ENSMUST00000043074] [ENSMUST00000134667] [ENSMUST00000138532] [ENSMUST00000156550] [ENSMUST00000178310] [ENSMUST00000179142]

AlphaFold

Q9CQ40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007482
AA Change: T146A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007482
Gene: ENSMUSG00000007338
AA Change: T146A

Domain	Start	End	E-Value	Type
Pfam:Img2	82	166	5.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000025723

SMART Domains

Protein: ENSMUSP00000025723
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	124	146	N/A	INTRINSIC
transmembrane domain	159	181	N/A	INTRINSIC
RING	240	278	4.7e-10	SMART
low complexity region	286	357	N/A	INTRINSIC
low complexity region	365	426	N/A	INTRINSIC
low complexity region	488	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043074

SMART Domains

Protein: ENSMUSP00000042835
Gene: ENSMUSG00000038274

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	133	9.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134667

SMART Domains

Protein: ENSMUSP00000114960
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
transmembrane domain	170	192	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
RING	291	329	9.74e-8	SMART
low complexity region	337	408	N/A	INTRINSIC
low complexity region	416	477	N/A	INTRINSIC
low complexity region	539	579	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138532

SMART Domains

Protein: ENSMUSP00000114843
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
transmembrane domain	170	192	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
RING	291	329	9.74e-8	SMART
low complexity region	337	408	N/A	INTRINSIC
low complexity region	416	477	N/A	INTRINSIC
low complexity region	539	579	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142101

Predicted Effect

probably benign
Transcript: ENSMUST00000156550

SMART Domains

Protein: ENSMUSP00000121885
Gene: ENSMUSG00000024807

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	103	120	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
transmembrane domain	170	192	N/A	INTRINSIC
transmembrane domain	213	235	N/A	INTRINSIC
RING	291	329	9.74e-8	SMART
low complexity region	337	408	N/A	INTRINSIC
low complexity region	416	477	N/A	INTRINSIC
low complexity region	539	573	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184338

Predicted Effect

probably benign
Transcript: ENSMUST00000178310

SMART Domains

Protein: ENSMUSP00000136803
Gene: ENSMUSG00000038274

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	133	9.4e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179142

SMART Domains

Protein: ENSMUSP00000136358
Gene: ENSMUSG00000038274

Domain	Start	End	E-Value	Type
UBQ	1	70	2.55e-20	SMART
Pfam:Ribosomal_S30	75	132	6.7e-34	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. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abitram	T	C	4: 56,806,131 (GRCm39)	V181A	possibly damaging	Het
Aff4	T	C	11: 53,300,198 (GRCm39)		probably benign	Het
Ap1g2	T	C	14: 55,338,104 (GRCm39)		probably null	Het
Aspn	A	T	13: 49,705,363 (GRCm39)	Y75F	possibly damaging	Het
Atm	G	A	9: 53,359,453 (GRCm39)	T2783I	probably damaging	Het
Cacnb1	A	T	11: 97,913,199 (GRCm39)	I18N	probably damaging	Het
Casr	T	C	16: 36,336,017 (GRCm39)	I97M	probably damaging	Het
Cnga2	T	A	X: 71,048,655 (GRCm39)		probably benign	Het
Coasy	T	A	11: 100,976,147 (GRCm39)	L425Q	probably damaging	Het
Cps1	A	G	1: 67,162,396 (GRCm39)	T25A	probably benign	Het
Dnah1	T	C	14: 31,006,772 (GRCm39)	Y2181C	probably benign	Het
Efna3	A	C	3: 89,222,749 (GRCm39)	S230A	probably damaging	Het
Eng	A	G	2: 32,563,286 (GRCm39)	I281V	probably damaging	Het
Erlec1	T	A	11: 30,898,430 (GRCm39)	R14*	probably null	Het
Gbp9	C	T	5: 105,231,431 (GRCm39)		probably benign	Het
Gzmg	T	C	14: 56,394,160 (GRCm39)	M245V	probably damaging	Het
Kdm5a	A	G	6: 120,341,680 (GRCm39)	I36V	probably damaging	Het
Krt87	A	G	15: 101,389,095 (GRCm39)	V79A	probably damaging	Het
Limd1	A	T	9: 123,308,987 (GRCm39)		probably benign	Het
Lmo4	T	C	3: 143,899,683 (GRCm39)	S155G	probably benign	Het
Mrpl44	G	A	1: 79,753,862 (GRCm39)	V5I	probably benign	Het
Mrpl58	T	C	11: 115,301,457 (GRCm39)		probably benign	Het
Nab1	C	T	1: 52,529,292 (GRCm39)	V202M	probably damaging	Het
Nav3	T	A	10: 109,527,997 (GRCm39)	M2229L	probably benign	Het
Notch2	C	T	3: 98,024,013 (GRCm39)		probably benign	Het
Nub1	A	G	5: 24,897,931 (GRCm39)	I106V	probably benign	Het
Prom1	A	T	5: 44,172,117 (GRCm39)	S595T	probably benign	Het
Rbfox1	T	A	16: 7,110,078 (GRCm39)	S165R	probably damaging	Het
Sipa1l2	G	A	8: 126,174,507 (GRCm39)	T1257I	probably damaging	Het
Smarcc2	T	C	10: 128,305,556 (GRCm39)	S327P	probably damaging	Het
Tdpoz1	T	C	3: 93,578,056 (GRCm39)	M243V	probably benign	Het
Ttn	G	T	2: 76,549,289 (GRCm39)	T23469K	probably damaging	Het
Ube2u	T	C	4: 100,339,971 (GRCm39)		probably benign	Het
Umodl1	T	C	17: 31,208,462 (GRCm39)	Y836H	probably damaging	Het
Vmn2r45	A	G	7: 8,488,728 (GRCm39)	Y101H	probably benign	Het
Vps13a	T	A	19: 16,697,772 (GRCm39)	Q781L	possibly damaging	Het
Vwce	G	A	19: 10,625,858 (GRCm39)	V457M	probably damaging	Het

Other mutations in Mrpl49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Mrpl49	APN	19	6,105,187 (GRCm39)	missense	possibly damaging	0.92
R1872:Mrpl49	UTSW	19	6,107,010 (GRCm39)	missense	possibly damaging	0.95
R4030:Mrpl49	UTSW	19	6,105,230 (GRCm39)	missense	probably benign	0.01
R7844:Mrpl49	UTSW	19	6,105,200 (GRCm39)	missense	probably damaging	1.00
R9235:Mrpl49	UTSW	19	6,105,147 (GRCm39)	nonsense	probably null

Posted On

2015-04-16