Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02347:Mrpl19'

289320

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl19

Ensembl Gene

ENSMUSG00000030045

Gene Name

mitochondrial ribosomal protein L19

Synonyms

D6Ertd157e, RLX1, MRP-L15, Rpml15, 9030416F12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

IGL02347

Quality Score

Status

Chromosome

Chromosomal Location

81934832-81942939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81938992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 270 (M270K)

Ref Sequence

ENSEMBL: ENSMUSP00000032124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032124] [ENSMUST00000043195] [ENSMUST00000152996]

AlphaFold

Q9D338

Predicted Effect

probably damaging
Transcript: ENSMUST00000032124
AA Change: M270K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: M270K

Domain	Start	End	E-Value	Type
low complexity region	60	74	N/A	INTRINSIC
Pfam:Ribosomal_L19	92	198	9e-19	PFAM
SCOP:d1fura_	214	282	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043195

SMART Domains

Protein: ENSMUSP00000035644
Gene: ENSMUSG00000035125

Domain	Start	End	E-Value	Type
low complexity region	16	24	N/A	INTRINSIC
low complexity region	43	66	N/A	INTRINSIC
low complexity region	97	111	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	193	210	N/A	INTRINSIC
coiled coil region	255	308	N/A	INTRINSIC
low complexity region	392	406	N/A	INTRINSIC
Pfam:GCFC	456	672	3e-34	PFAM
low complexity region	753	763	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148025

Predicted Effect

probably benign
Transcript: ENSMUST00000152996

SMART Domains

Protein: ENSMUSP00000138136
Gene: ENSMUSG00000035125

Domain	Start	End	E-Value	Type
low complexity region	16	24	N/A	INTRINSIC
low complexity region	43	66	N/A	INTRINSIC
low complexity region	97	111	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	193	210	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203959

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. [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
9830107B12Rik	T	A	17: 48,452,835 (GRCm39)	K35*	probably null	Het
Adad2	G	T	8: 120,343,408 (GRCm39)	G546V	probably damaging	Het
Bccip	A	G	7: 133,311,105 (GRCm39)	K7E	probably benign	Het
C8b	G	A	4: 104,644,151 (GRCm39)	E273K	probably benign	Het
Car12	T	A	9: 66,671,629 (GRCm39)	V352D	possibly damaging	Het
Cyp2d11	G	A	15: 82,274,681 (GRCm39)	R299C	probably benign	Het
Dnah10	A	C	5: 124,910,487 (GRCm39)		probably null	Het
Eddm13	A	G	7: 6,272,883 (GRCm39)	I79M	possibly damaging	Het
Egf	A	T	3: 129,472,026 (GRCm39)	N1199K	probably benign	Het
Ehbp1l1	A	G	19: 5,769,600 (GRCm39)	W568R	possibly damaging	Het
Eif1ad14	T	C	12: 87,886,359 (GRCm39)	D90G	probably damaging	Het
Emc3	A	G	6: 113,497,533 (GRCm39)	M106T	possibly damaging	Het
Fam13b	T	C	18: 34,587,757 (GRCm39)	K514E	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Frg2f1	A	C	4: 119,387,929 (GRCm39)	L190R	probably damaging	Het
Frmpd1	A	G	4: 45,270,023 (GRCm39)		probably null	Het
Glis3	A	G	19: 28,509,283 (GRCm39)	F234L	probably benign	Het
Grap2	T	C	15: 80,530,557 (GRCm39)		probably benign	Het
H2-M10.2	T	A	17: 36,596,505 (GRCm39)	E113D	probably benign	Het
Itgb6	T	C	2: 60,441,756 (GRCm39)	T685A	probably benign	Het
Msantd4	G	T	9: 4,384,734 (GRCm39)		probably benign	Het
Msr1	G	T	8: 40,085,778 (GRCm39)	T34K	probably damaging	Het
Npc1	C	T	18: 12,332,691 (GRCm39)	V780M	probably benign	Het
Nsun6	A	G	2: 15,034,831 (GRCm39)		probably benign	Het
Nt5c2	A	G	19: 46,912,695 (GRCm39)		probably benign	Het
Nucb2	A	C	7: 116,135,113 (GRCm39)	Q340P	probably benign	Het
Nup50l	A	T	6: 96,142,511 (GRCm39)	Y178N	probably damaging	Het
Or2l13b	A	G	16: 19,349,529 (GRCm39)	L47P	probably damaging	Het
Or3a1b	C	T	11: 74,012,397 (GRCm39)	T94I	probably benign	Het
Osgin1	A	G	8: 120,172,277 (GRCm39)	E357G	probably benign	Het
Pabpc6	C	T	17: 9,887,993 (GRCm39)	R186K	probably benign	Het
Pex1	A	G	5: 3,653,350 (GRCm39)	K83R	probably damaging	Het
Ppid	A	G	3: 79,502,526 (GRCm39)	I82V	probably benign	Het
Pygl	C	T	12: 70,248,666 (GRCm39)	G318S	probably benign	Het
Rcn1	A	T	2: 105,229,471 (GRCm39)	V27E	probably benign	Het
Rnaseh1	A	T	12: 28,707,629 (GRCm39)		probably benign	Het
Rnf148	A	G	6: 23,654,729 (GRCm39)	V89A	probably benign	Het
Siglecf	G	A	7: 43,001,145 (GRCm39)	V38I	possibly damaging	Het
Slc13a5	T	C	11: 72,149,780 (GRCm39)		probably null	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Sos2	A	T	12: 69,643,520 (GRCm39)	D953E	probably benign	Het
Strbp	A	C	2: 37,535,660 (GRCm39)	V16G	probably benign	Het
Sycp1	A	T	3: 102,800,863 (GRCm39)	M567K	probably benign	Het
Tedc2	A	C	17: 24,439,584 (GRCm39)	V19G	probably damaging	Het
Tjp1	A	G	7: 64,950,812 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,539,564 (GRCm39)	V26147E	probably damaging	Het
Vmn1r86	A	G	7: 12,836,574 (GRCm39)	S51P	probably damaging	Het
Vmn2r83	A	G	10: 79,316,067 (GRCm39)	T488A	possibly damaging	Het
Zfp541	A	G	7: 15,817,390 (GRCm39)	Y945C	probably damaging	Het

Other mutations in Mrpl19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Mrpl19	APN	6	81,942,853 (GRCm39)	missense	probably benign	0.02
IGL00563:Mrpl19	APN	6	81,942,853 (GRCm39)	missense	probably benign	0.02
IGL02113:Mrpl19	APN	6	81,942,896 (GRCm39)	missense	probably benign
IGL02116:Mrpl19	APN	6	81,942,758 (GRCm39)	missense	probably benign	0.41
IGL02256:Mrpl19	APN	6	81,941,300 (GRCm39)	missense	probably benign	0.06
IGL02415:Mrpl19	APN	6	81,940,942 (GRCm39)	missense	probably benign	0.29
IGL02825:Mrpl19	APN	6	81,942,796 (GRCm39)	missense	probably benign	0.25
IGL03189:Mrpl19	APN	6	81,938,974 (GRCm39)	nonsense	probably null
R1824:Mrpl19	UTSW	6	81,941,060 (GRCm39)	splice site	probably null
R2310:Mrpl19	UTSW	6	81,941,054 (GRCm39)	splice site	probably null
R3176:Mrpl19	UTSW	6	81,941,047 (GRCm39)	missense	probably damaging	0.99
R3276:Mrpl19	UTSW	6	81,941,047 (GRCm39)	missense	probably damaging	0.99
R3821:Mrpl19	UTSW	6	81,938,987 (GRCm39)	nonsense	probably null
R4705:Mrpl19	UTSW	6	81,941,266 (GRCm39)	missense	probably damaging	0.99
R4736:Mrpl19	UTSW	6	81,941,329 (GRCm39)	missense	probably damaging	1.00
R5464:Mrpl19	UTSW	6	81,938,992 (GRCm39)	missense	probably damaging	0.99
R7408:Mrpl19	UTSW	6	81,942,793 (GRCm39)	missense	possibly damaging	0.65
R7835:Mrpl19	UTSW	6	81,939,107 (GRCm39)	missense	probably damaging	1.00
R7956:Mrpl19	UTSW	6	81,940,962 (GRCm39)	missense	probably benign	0.00
R8432:Mrpl19	UTSW	6	81,939,136 (GRCm39)	missense	probably damaging	1.00
Z1177:Mrpl19	UTSW	6	81,941,291 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16