Mutagenetix > Incidental Mutation

Incidental Mutation 'R1162:Mrpl43'

100535

Institutional Source

Beutler Lab

Gene Symbol

Mrpl43

Ensembl Gene

ENSMUSG00000025208

Gene Name

mitochondrial ribosomal protein L43

Synonyms

4930442D21Rik, bMRP36a

MMRRC Submission

039235-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R1162 (G1)

Quality Score

113

Status

Validated

Chromosome

Chromosomal Location

44993584-44994860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44994797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 13 (S13R)

Ref Sequence

ENSEMBL: ENSMUSP00000095322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026225] [ENSMUST00000026227] [ENSMUST00000097715] [ENSMUST00000130549] [ENSMUST00000179305]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026225

SMART Domains

Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Sema	56	487	2.38e-165	SMART
PSI	505	556	6.59e-13	SMART
IG	567	649	6.26e-5	SMART
low complexity region	650	666	N/A	INTRINSIC
transmembrane domain	677	699	N/A	INTRINSIC
low complexity region	701	708	N/A	INTRINSIC
low complexity region	713	720	N/A	INTRINSIC
low complexity region	734	751	N/A	INTRINSIC
low complexity region	761	774	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026227

SMART Domains

Protein: ENSMUSP00000026227
Gene: ENSMUSG00000025209

Domain	Start	End	E-Value	Type
low complexity region	213	224	N/A	INTRINSIC
Blast:TOPRIM	260	331	8e-16	BLAST
Pfam:AAA_25	377	565	5.6e-25	PFAM
Pfam:DnaB_C	390	631	6.7e-17	PFAM
Pfam:KaiC	394	628	2.6e-11	PFAM
low complexity region	650	661	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097715
AA Change: S13R

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095322
Gene: ENSMUSG00000025208
AA Change: S13R

Domain	Start	End	E-Value	Type
L51_S25_CI-B8	35	108	1.61e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130549

SMART Domains

Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Sema	56	487	2.38e-165	SMART
PSI	505	556	6.59e-13	SMART
IG	567	649	6.26e-5	SMART
low complexity region	650	666	N/A	INTRINSIC
transmembrane domain	677	699	N/A	INTRINSIC
low complexity region	701	708	N/A	INTRINSIC
low complexity region	713	720	N/A	INTRINSIC
low complexity region	734	751	N/A	INTRINSIC
low complexity region	761	774	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179305

SMART Domains

Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Sema	56	487	2.38e-165	SMART
PSI	505	556	6.59e-13	SMART
IG	567	649	6.26e-5	SMART
low complexity region	650	666	N/A	INTRINSIC
transmembrane domain	677	699	N/A	INTRINSIC
low complexity region	701	708	N/A	INTRINSIC
low complexity region	713	720	N/A	INTRINSIC
low complexity region	734	751	N/A	INTRINSIC
low complexity region	761	774	N/A	INTRINSIC

Meta Mutation Damage Score

0.6514

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.9%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: 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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	C	4: 156,206,875 (GRCm39)		probably null	Het
Adamts12	T	A	15: 11,277,544 (GRCm39)		probably null	Het
Ccn3	T	A	15: 54,611,178 (GRCm39)	C104*	probably null	Het
Cops4	T	C	5: 100,678,023 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dgkh	A	G	14: 78,861,891 (GRCm39)	C125R	probably damaging	Het
Dgkz	A	T	2: 91,774,789 (GRCm39)	I65N	probably damaging	Het
Dock10	T	A	1: 80,546,559 (GRCm39)	H743L	possibly damaging	Het
Dscaml1	T	C	9: 45,663,647 (GRCm39)		probably benign	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Gbe1	A	T	16: 70,178,738 (GRCm39)		probably benign	Het
Gm7275	A	G	16: 47,894,395 (GRCm39)		noncoding transcript	Het
Gpatch1	A	G	7: 35,002,905 (GRCm39)		probably benign	Het
Gpr137c	A	G	14: 45,481,615 (GRCm39)	I144V	possibly damaging	Het
Igsf9b	T	C	9: 27,238,185 (GRCm39)	S563P	probably benign	Het
Insl5	C	T	4: 102,875,438 (GRCm39)	R104Q	probably benign	Het
Kcnj2	T	A	11: 110,963,793 (GRCm39)	V395D	probably benign	Het
Ksr2	A	G	5: 117,693,020 (GRCm39)		probably benign	Het
Lrrc4	C	A	6: 28,831,083 (GRCm39)	L177F	probably damaging	Het
Mapkbp1	A	G	2: 119,855,799 (GRCm39)	E1506G	possibly damaging	Het
Morc3	A	C	16: 93,649,996 (GRCm39)	Y259S	probably damaging	Het
Myh4	A	G	11: 67,149,439 (GRCm39)	N1724D	probably damaging	Het
Nab1	A	G	1: 52,529,186 (GRCm39)	M237T	probably damaging	Het
Nav2	A	G	7: 49,185,788 (GRCm39)		probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2h15	A	T	17: 38,441,984 (GRCm39)	V33D	possibly damaging	Het
Or5ac15	T	C	16: 58,939,735 (GRCm39)	R233G	probably damaging	Het
Or5p80	A	G	7: 108,230,120 (GRCm39)	N307S	probably benign	Het
Phf2	A	T	13: 48,973,117 (GRCm39)		probably benign	Het
Ppef2	A	C	5: 92,400,980 (GRCm39)	F13L	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Sap130	C	T	18: 31,781,226 (GRCm39)	P130S	probably damaging	Het
Scn11a	A	G	9: 119,634,710 (GRCm39)		probably benign	Het
Sec31b	C	A	19: 44,506,087 (GRCm39)	E940*	probably null	Het
Sgce	A	G	6: 4,691,419 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,600 (GRCm39)	I155N	probably damaging	Het
Sirt2	A	T	7: 28,485,247 (GRCm39)	D218V	probably damaging	Het
Slc16a10	T	C	10: 39,952,549 (GRCm39)	H315R	probably benign	Het
Sox5	A	G	6: 143,906,538 (GRCm39)	Y306H	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tab2	A	G	10: 7,800,483 (GRCm39)	V23A	probably damaging	Het
Trak1	G	T	9: 121,282,407 (GRCm39)	V429F	possibly damaging	Het
Trat1	T	C	16: 48,560,572 (GRCm39)	S102G	possibly damaging	Het
Trub1	G	A	19: 57,461,191 (GRCm39)	V156I	probably benign	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Unc13a	T	A	8: 72,100,561 (GRCm39)	T1076S	probably benign	Het
Vangl2	A	G	1: 171,832,414 (GRCm39)	Y481H	probably damaging	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r60	A	T	7: 41,845,195 (GRCm39)	I853F	probably benign	Het
Yrdc	T	C	4: 124,748,254 (GRCm39)		probably benign	Het
Zfp595	A	T	13: 67,465,259 (GRCm39)	C335S	probably damaging	Het
Zfp872	A	G	9: 22,110,910 (GRCm39)	S149G	possibly damaging	Het

Other mutations in Mrpl43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0555:Mrpl43	UTSW	19	44,994,391 (GRCm39)	unclassified	probably benign
R2975:Mrpl43	UTSW	19	44,994,498 (GRCm39)	splice site	probably null
R4151:Mrpl43	UTSW	19	44,994,175 (GRCm39)	missense	possibly damaging	0.51
R4345:Mrpl43	UTSW	19	44,994,549 (GRCm39)	missense	probably damaging	1.00
R4586:Mrpl43	UTSW	19	44,994,328 (GRCm39)	missense	possibly damaging	0.94
R9786:Mrpl43	UTSW	19	44,994,346 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2014-01-15