Mutagenetix > Incidental Mutation

Incidental Mutation 'R4151:Mrpl43'

314928

Institutional Source

Beutler Lab

Gene Symbol

Mrpl43

Ensembl Gene

ENSMUSG00000025208

Gene Name

mitochondrial ribosomal protein L43

Synonyms

4930442D21Rik, bMRP36a

MMRRC Submission

040861-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R4151 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44993584-44994860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44994175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 148 (L148P)

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: L148P

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095322
Gene: ENSMUSG00000025208
AA Change: L148P

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	C	T	9: 122,090,601 (GRCm39)	W237*	probably null	Het
Armc9	C	T	1: 86,092,497 (GRCm39)	T87M	probably damaging	Het
Astn2	C	T	4: 65,647,557 (GRCm39)		probably null	Het
Atxn7l1	G	A	12: 33,414,481 (GRCm39)	V506M	probably damaging	Het
Cenpe	A	G	3: 134,920,914 (GRCm39)	N36D	probably benign	Het
Cfap45	T	A	1: 172,359,788 (GRCm39)	I96N	probably damaging	Het
Cyp8b1	A	T	9: 121,745,134 (GRCm39)	V66D	probably damaging	Het
Dnajb6	C	G	5: 29,961,234 (GRCm39)	L118V	probably benign	Het
Dpy19l4	A	G	4: 11,309,485 (GRCm39)	S44P	possibly damaging	Het
Dync2li1	A	G	17: 84,935,763 (GRCm39)	H20R	probably benign	Het
Ecpas	A	T	4: 58,836,254 (GRCm39)	S695R	possibly damaging	Het
Eif3g	T	C	9: 20,806,429 (GRCm39)	D220G	probably benign	Het
Fbxo38	GTGCTGCTGCTGCTGCTGCTGC	GTGCTGCTGCTGCTGCTGC	18: 62,648,399 (GRCm39)		probably benign	Het
Gata2	T	A	6: 88,176,620 (GRCm39)	H26Q	probably damaging	Het
Gle1	T	C	2: 29,834,056 (GRCm39)	I434T	probably damaging	Het
Gm5145	A	G	17: 20,791,360 (GRCm39)	E246G	probably damaging	Het
Ints10	T	A	8: 69,247,250 (GRCm39)		probably null	Het
Kdr	G	T	5: 76,117,761 (GRCm39)	A664E	possibly damaging	Het
Klhl1	A	C	14: 96,755,752 (GRCm39)	M1R	probably null	Het
Lama4	T	A	10: 38,881,424 (GRCm39)	F71Y	probably benign	Het
Madd	C	A	2: 90,973,428 (GRCm39)	R1410L	probably benign	Het
Magi2	T	C	5: 19,432,290 (GRCm39)	S2P	probably damaging	Het
Map4k3	T	C	17: 80,951,963 (GRCm39)	K228R	probably damaging	Het
Msi2	G	C	11: 88,608,870 (GRCm39)	S16C	probably damaging	Het
Myo1e	G	T	9: 70,204,633 (GRCm39)	G78*	probably null	Het
Notch2	T	C	3: 98,054,387 (GRCm39)	L2350S	possibly damaging	Het
Nptn	G	T	9: 58,550,825 (GRCm39)	S168I	probably benign	Het
Nsmce2	A	G	15: 59,473,214 (GRCm39)	T244A	probably benign	Het
Or5aq6	C	T	2: 86,923,514 (GRCm39)	V76I	probably benign	Het
Ostn	T	A	16: 27,140,152 (GRCm39)	S22T	probably benign	Het
Plekhb2	T	G	1: 34,903,564 (GRCm39)	F102V	probably benign	Het
Prkdc	A	G	16: 15,634,637 (GRCm39)	D3594G	probably benign	Het
Psmd6	G	C	14: 14,120,157 (GRCm38)	L61V	probably benign	Het
Rbm33	C	T	5: 28,592,938 (GRCm39)	P573S	probably damaging	Het
Rfk	A	C	19: 17,372,672 (GRCm39)	I65L	probably benign	Het
Rnf141	A	T	7: 110,436,406 (GRCm39)	D7E	probably benign	Het
Shank2	A	T	7: 143,608,565 (GRCm39)	K153M	probably damaging	Het
Slc30a2	A	T	4: 134,071,359 (GRCm39)	I31F	probably benign	Het
Slco3a1	G	T	7: 74,009,586 (GRCm39)	A243E	probably damaging	Het
Stab2	G	A	10: 86,838,847 (GRCm39)	T73I	probably benign	Het
Sufu	G	A	19: 46,438,411 (GRCm39)		probably null	Het
Sync	C	T	4: 129,187,519 (GRCm39)	Q184*	probably null	Het
Tnfrsf25	G	T	4: 152,204,258 (GRCm39)	A376S	probably damaging	Het
Tnpo1	A	T	13: 98,989,407 (GRCm39)	I765N	probably damaging	Het
Ube2d2b	A	T	5: 107,978,747 (GRCm39)	K133*	probably null	Het
Ulk3	C	T	9: 57,499,650 (GRCm39)	S217L	possibly damaging	Het
Upf2	C	A	2: 5,966,516 (GRCm39)	Q379K	unknown	Het
Vegfc	T	A	8: 54,530,824 (GRCm39)	L4Q	unknown	Het
Vmn2r104	A	T	17: 20,250,147 (GRCm39)	I708N	probably 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
R1162:Mrpl43	UTSW	19	44,994,797 (GRCm39)	missense	possibly damaging	0.94
R2975:Mrpl43	UTSW	19	44,994,498 (GRCm39)	splice site	probably null
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

PCR Primer
(F):5'- TCTCACATCTCAGCTTGCAAG -3'
(R):5'- TCGGTGGAGGAGATCAAGTC -3'

Sequencing Primer
(F):5'- TAGGGTATTCACAAGGTCACTGCAC -3'
(R):5'- TCAAGTCGTTGGTGCAGAAGC -3'

Posted On

2015-05-14