Mutagenetix > Incidental Mutation

Incidental Mutation 'R3276:Mrpl19'

475823

Institutional Source

Beutler Lab

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 #

R3276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81957851-81965958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81964066 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 115 (S115G)

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: S115G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: S115G

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

Meta Mutation Damage Score

0.7370

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

96% (47/49)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702	E164G	probably null	Het
Als2	A	T	1: 59,170,008	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477		probably benign	Het
Col16a1	A	G	4: 130,057,999	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850	N415D	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,561,239	F25L	probably benign	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071	T715A	probably benign	Het
Eogt	T	A	6: 97,131,394	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Gm11492	T	C	11: 87,567,244	V148A	possibly damaging	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Golga3	T	C	5: 110,201,998		probably benign	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639	N1119S	probably benign	Het
Klhl32	T	C	4: 24,682,063	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946	I143T	possibly damaging	Het
Lrrk1	T	C	7: 66,305,521	K431E	possibly damaging	Het
Mag	C	T	7: 30,901,648		probably null	Het
Maml3	A	T	3: 51,856,930	N204K	possibly damaging	Het
Mthfd1l	G	C	10: 4,148,025	G954A	probably damaging	Het
Mut	A	G	17: 40,958,872		probably null	Het
Myo19	A	G	11: 84,892,175	I172V	probably benign	Het
Naca	T	C	10: 128,040,661		probably benign	Het
Nfatc2	T	C	2: 168,506,994	N638D	possibly damaging	Het
Nsun6	A	G	2: 15,009,404		probably benign	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr584	C	A	7: 103,085,750	D72E	probably damaging	Het
Olfr913	T	A	9: 38,594,643	C141S	probably damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943		probably null	Het
Ranbp1	T	C	16: 18,247,429		probably benign	Het
Rb1cc1	T	A	1: 6,249,366	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	Het

Other mutations in Mrpl19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Mrpl19	APN	6	81965872	missense	probably benign	0.02
IGL00563:Mrpl19	APN	6	81965872	missense	probably benign	0.02
IGL02113:Mrpl19	APN	6	81965915	missense	probably benign
IGL02116:Mrpl19	APN	6	81965777	missense	probably benign	0.41
IGL02256:Mrpl19	APN	6	81964319	missense	probably benign	0.06
IGL02347:Mrpl19	APN	6	81962011	missense	probably damaging	0.99
IGL02415:Mrpl19	APN	6	81963961	missense	probably benign	0.29
IGL02825:Mrpl19	APN	6	81965815	missense	probably benign	0.25
IGL03189:Mrpl19	APN	6	81961993	nonsense	probably null
R1824:Mrpl19	UTSW	6	81964079	splice site	probably null
R2310:Mrpl19	UTSW	6	81964073	splice site	probably null
R3176:Mrpl19	UTSW	6	81964066	missense	probably damaging	0.99
R3821:Mrpl19	UTSW	6	81962006	nonsense	probably null
R4705:Mrpl19	UTSW	6	81964285	missense	probably damaging	0.99
R4736:Mrpl19	UTSW	6	81964348	missense	probably damaging	1.00
R5464:Mrpl19	UTSW	6	81962011	missense	probably damaging	0.99
R7408:Mrpl19	UTSW	6	81965812	missense	possibly damaging	0.65
R7835:Mrpl19	UTSW	6	81962126	missense	probably damaging	1.00
R7956:Mrpl19	UTSW	6	81963981	missense	probably benign	0.00
R8432:Mrpl19	UTSW	6	81962155	missense	probably damaging	1.00
Z1177:Mrpl19	UTSW	6	81964310	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-11