Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Mrpl58'

180594

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl58

Ensembl Gene

ENSMUSG00000018858

Gene Name

mitochondrial ribosomal protein L58

Synonyms

1110001A02Rik, 1110002E03Rik, Ict1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

115294578-115303500 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to A at 115301555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043931] [ENSMUST00000073791] [ENSMUST00000103036] [ENSMUST00000106537] [ENSMUST00000106539] [ENSMUST00000122946] [ENSMUST00000153983]

AlphaFold

Q8R035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000021079

Predicted Effect

probably benign
Transcript: ENSMUST00000043931

SMART Domains

Protein: ENSMUSP00000046256
Gene: ENSMUSG00000034566

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	2	161	2.7e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073791

SMART Domains

Protein: ENSMUSP00000086072
Gene: ENSMUSG00000034566

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	2	161	2.7e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103036

SMART Domains

Protein: ENSMUSP00000099325
Gene: ENSMUSG00000018858

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
Pfam:RF-1	34	173	6.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106537

SMART Domains

Protein: ENSMUSP00000102147
Gene: ENSMUSG00000034566

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	3	160	5.6e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106539

SMART Domains

Protein: ENSMUSP00000102149
Gene: ENSMUSG00000018858

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
PDB:1J26\|A	63	142	8e-49	PDB
SCOP:d1gqea_	98	174	2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122946

SMART Domains

Protein: ENSMUSP00000116245
Gene: ENSMUSG00000018858

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153983

SMART Domains

Protein: ENSMUSP00000116746
Gene: ENSMUSG00000018858

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
Pfam:RF-1	66	204	1.9e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125653

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peptidyl-tRNA hydrolase and a vital component of the large mitochondrial ribosome. The encoded protein serves as a ribosome release factor for this ribosome, which translates mitochondrial genes. This protein may be responsible for degrading prematurely-terminated polypeptides and for reusing stalled ribosomes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 90,852,753 (GRCm39)	T128S	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gfap	G	A	11: 102,785,286 (GRCm39)	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Ipp	C	A	4: 116,367,852 (GRCm39)	N28K	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Man1b1	T	C	2: 25,235,523 (GRCm39)	S350P	probably benign	Het
Mfsd4a	T	C	1: 131,974,049 (GRCm39)	Y343C	probably damaging	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Or5p69	A	G	7: 107,967,368 (GRCm39)	I224V	probably damaging	Het
Parva	T	A	7: 112,187,760 (GRCm39)	C352*	probably null	Het
Ptf1a	T	A	2: 19,451,431 (GRCm39)	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,708,424 (GRCm39)	S229P	probably benign	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zfp236	A	T	18: 82,651,245 (GRCm39)	V889E	probably damaging	Het
Zscan20	T	C	4: 128,486,277 (GRCm39)	D141G	possibly damaging	Het

Other mutations in Mrpl58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Mrpl58	APN	11	115,297,404 (GRCm39)	missense	probably damaging	0.99
IGL02633:Mrpl58	APN	11	115,301,457 (GRCm39)	splice site	probably benign
IGL02935:Mrpl58	APN	11	115,301,054 (GRCm39)	splice site	probably benign
R6322:Mrpl58	UTSW	11	115,301,492 (GRCm39)	nonsense	probably null
R6419:Mrpl58	UTSW	11	115,301,073 (GRCm39)	missense	probably damaging	1.00
R7491:Mrpl58	UTSW	11	115,301,092 (GRCm39)	missense	possibly damaging	0.48

Posted On

2014-05-07