Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02415:Mrpl19'

292423

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl19

Ensembl Gene

ENSMUSG00000030045

Gene Name

mitochondrial ribosomal protein L19

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

81957851-81965958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81963961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 150 (T150A)

Ref Sequence

ENSEMBL: ENSMUSP00000032124 (fasta)

Gene Model

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

AlphaFold

Q9D338

Predicted Effect

probably benign
Transcript: ENSMUST00000032124
AA Change: T150A

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: T150A

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,947,991 (GRCm38)	D124G	probably benign	Het
Adamts13	T	A	2: 26,989,283 (GRCm38)	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,706,647 (GRCm38)		probably null	Het
Amy1	T	C	3: 113,563,585 (GRCm38)	I202V	probably benign	Het
Bdp1	G	A	13: 100,089,408 (GRCm38)	T322I	probably damaging	Het
Cep295	A	G	9: 15,353,020 (GRCm38)	L110S	probably damaging	Het
Cep72	T	C	13: 74,050,154 (GRCm38)	D369G	probably benign	Het
Chd3	A	T	11: 69,348,913 (GRCm38)		probably benign	Het
Ckmt2	G	A	13: 91,863,340 (GRCm38)		probably benign	Het
Cyp2s1	T	C	7: 25,808,137 (GRCm38)	T296A	probably damaging	Het
E2f5	T	A	3: 14,603,897 (GRCm38)	V283E	probably benign	Het
F5	A	G	1: 164,191,929 (GRCm38)	T658A	probably damaging	Het
Fam102b	A	G	3: 108,980,292 (GRCm38)	Y219H	probably damaging	Het
Gml	A	T	15: 74,816,440 (GRCm38)	Y59*	probably null	Het
Kmo	A	T	1: 175,649,323 (GRCm38)		probably benign	Het
Krt25	A	T	11: 99,322,572 (GRCm38)	I107N	probably damaging	Het
Llgl2	A	G	11: 115,853,285 (GRCm38)	M773V	probably damaging	Het
Lyst	G	A	13: 13,660,956 (GRCm38)	C1741Y	probably benign	Het
Med12	T	C	X: 101,281,790 (GRCm38)	V761A	probably damaging	Het
Muc2	G	T	7: 141,751,872 (GRCm38)	E646*	probably null	Het
Muc20	T	A	16: 32,794,681 (GRCm38)	T109S	unknown	Het
Nr2f6	T	C	8: 71,374,512 (GRCm38)	T382A	probably benign	Het
Nrap	A	G	19: 56,382,309 (GRCm38)	I172T	probably damaging	Het
Olfr1434	A	G	19: 12,283,498 (GRCm38)	Y150C	probably benign	Het
Olfr911-ps1	T	C	9: 38,524,112 (GRCm38)	C127R	probably benign	Het
P3h1	A	T	4: 119,247,955 (GRCm38)	Q710L	probably benign	Het
Parvb	A	G	15: 84,292,815 (GRCm38)	H185R	probably damaging	Het
Pkhd1	T	C	1: 20,522,759 (GRCm38)	Y1710C	probably damaging	Het
Pkhd1	A	G	1: 20,414,421 (GRCm38)	I1970T	probably damaging	Het
Plxna2	C	A	1: 194,643,964 (GRCm38)	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,456,929 (GRCm38)	N284S	possibly damaging	Het
Reln	T	A	5: 21,971,951 (GRCm38)	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,334,398 (GRCm38)	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,754,239 (GRCm38)	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,283,237 (GRCm38)		probably null	Het
Stx6	A	G	1: 155,193,313 (GRCm38)	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,742,085 (GRCm38)	D90E	possibly damaging	Het
Taok1	A	G	11: 77,540,240 (GRCm38)		probably benign	Het
Tbx15	A	T	3: 99,352,510 (GRCm38)	M566L	probably benign	Het
Tcaf1	C	T	6: 42,686,650 (GRCm38)	A99T	probably benign	Het
Tcf20	T	A	15: 82,853,459 (GRCm38)	M1264L	probably benign	Het
Tenm4	G	A	7: 96,874,074 (GRCm38)	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,431,529 (GRCm38)		probably benign	Het
Ubr1	C	A	2: 120,970,603 (GRCm38)		probably benign	Het
Ulk1	T	C	5: 110,787,621 (GRCm38)	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,583,771 (GRCm38)	I181V	probably benign	Het
Vmn2r66	G	A	7: 85,006,812 (GRCm38)	T332I	probably damaging	Het
Wdr1	C	A	5: 38,531,110 (GRCm38)	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,394,557 (GRCm38)	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,915,943 (GRCm38)	E573K	probably benign	Het
Zfp334	G	T	2: 165,381,851 (GRCm38)	Q91K	possibly damaging	Het

Other mutations in Mrpl19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Mrpl19	APN	6	81,965,872 (GRCm38)	missense	probably benign	0.02
IGL00563:Mrpl19	APN	6	81,965,872 (GRCm38)	missense	probably benign	0.02
IGL02113:Mrpl19	APN	6	81,965,915 (GRCm38)	missense	probably benign
IGL02116:Mrpl19	APN	6	81,965,777 (GRCm38)	missense	probably benign	0.41
IGL02256:Mrpl19	APN	6	81,964,319 (GRCm38)	missense	probably benign	0.06
IGL02347:Mrpl19	APN	6	81,962,011 (GRCm38)	missense	probably damaging	0.99
IGL02825:Mrpl19	APN	6	81,965,815 (GRCm38)	missense	probably benign	0.25
IGL03189:Mrpl19	APN	6	81,961,993 (GRCm38)	nonsense	probably null
R1824:Mrpl19	UTSW	6	81,964,079 (GRCm38)	splice site	probably null
R2310:Mrpl19	UTSW	6	81,964,073 (GRCm38)	splice site	probably null
R3176:Mrpl19	UTSW	6	81,964,066 (GRCm38)	missense	probably damaging	0.99
R3276:Mrpl19	UTSW	6	81,964,066 (GRCm38)	missense	probably damaging	0.99
R3821:Mrpl19	UTSW	6	81,962,006 (GRCm38)	nonsense	probably null
R4705:Mrpl19	UTSW	6	81,964,285 (GRCm38)	missense	probably damaging	0.99
R4736:Mrpl19	UTSW	6	81,964,348 (GRCm38)	missense	probably damaging	1.00
R5464:Mrpl19	UTSW	6	81,962,011 (GRCm38)	missense	probably damaging	0.99
R7408:Mrpl19	UTSW	6	81,965,812 (GRCm38)	missense	possibly damaging	0.65
R7835:Mrpl19	UTSW	6	81,962,126 (GRCm38)	missense	probably damaging	1.00
R7956:Mrpl19	UTSW	6	81,963,981 (GRCm38)	missense	probably benign	0.00
R8432:Mrpl19	UTSW	6	81,962,155 (GRCm38)	missense	probably damaging	1.00
Z1177:Mrpl19	UTSW	6	81,964,310 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16