Mutagenetix > Incidental Mutation

Incidental Mutation 'R7476:Mrpl4'

579499

Institutional Source

Beutler Lab

Gene Symbol

Mrpl4

Ensembl Gene

ENSMUSG00000003299

Gene Name

mitochondrial ribosomal protein L4

Synonyms

1110017G11Rik

MMRRC Submission

045550-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R7476 (G1)

Quality Score

81.0075

Status

Not validated

Chromosome

Chromosomal Location

20914034-20920135 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 20914067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003386] [ENSMUST00000214124] [ENSMUST00000216175] [ENSMUST00000216824]

AlphaFold

Q9DCU6

Predicted Effect

probably benign
Transcript: ENSMUST00000003386

SMART Domains

Protein: ENSMUSP00000003386
Gene: ENSMUSG00000003299

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
Pfam:Ribosomal_L4	80	272	1.4e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214124

Predicted Effect

probably benign
Transcript: ENSMUST00000216175

Predicted Effect

probably benign
Transcript: ENSMUST00000216466

Predicted Effect

probably benign
Transcript: ENSMUST00000216818

Predicted Effect

probably benign
Transcript: ENSMUST00000216824

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	T	6: 52,156,014 (GRCm39)	P27S	unknown	Het
Abi3bp	A	T	16: 56,435,109 (GRCm39)	K602*	probably null	Het
Adam29	G	T	8: 56,326,230 (GRCm39)	H75N	probably damaging	Het
Ajap1	C	T	4: 153,469,312 (GRCm39)	E373K	probably damaging	Het
Alg6	C	A	4: 99,632,113 (GRCm39)	H206N	probably damaging	Het
Alox5	A	T	6: 116,392,394 (GRCm39)	S376T	probably benign	Het
Arhgap19	A	T	19: 41,770,802 (GRCm39)	Y321N	probably benign	Het
Brip1	A	G	11: 86,048,634 (GRCm39)	V236A	probably benign	Het
C1ra	C	T	6: 124,499,658 (GRCm39)	P615S	probably damaging	Het
Ccdc69	C	T	11: 54,942,024 (GRCm39)	V161I	possibly damaging	Het
Chil5	G	A	3: 105,927,323 (GRCm39)	R163C	possibly damaging	Het
Cldnd1	A	G	16: 58,549,907 (GRCm39)	D30G	probably damaging	Het
Csmd1	A	G	8: 15,945,731 (GRCm39)	C3561R	probably damaging	Het
Daxx	T	G	17: 34,130,255 (GRCm39)	V90G	probably damaging	Het
Dgkg	T	A	16: 22,441,054 (GRCm39)		probably benign	Het
Dmrta2	A	G	4: 109,839,222 (GRCm39)	H323R	probably damaging	Het
Dysf	A	T	6: 84,041,878 (GRCm39)	T161S	probably benign	Het
Fat1	G	T	8: 45,484,311 (GRCm39)	R3183L	probably benign	Het
Fcho1	C	A	8: 72,166,190 (GRCm39)	D347Y	probably damaging	Het
Gm21798	T	C	15: 64,689,555 (GRCm39)	C5R	unknown	Het
Hmcn1	T	C	1: 150,456,018 (GRCm39)	R5301G	probably damaging	Het
Hoxd11	T	C	2: 74,514,459 (GRCm39)	F330L	probably damaging	Het
Lactbl1	A	G	4: 136,364,950 (GRCm39)	D434G	probably benign	Het
Lgals8	A	T	13: 12,463,362 (GRCm39)	N191K	probably damaging	Het
Lmod2	T	A	6: 24,597,920 (GRCm39)	Y13*	probably null	Het
Malrd1	T	C	2: 16,147,115 (GRCm39)	S1986P	unknown	Het
Map3k9	C	T	12: 81,790,582 (GRCm39)	D324N	probably damaging	Het
Mcmbp	C	A	7: 128,305,306 (GRCm39)	K487N	probably damaging	Het
Nectin2	T	C	7: 19,451,546 (GRCm39)	D496G	possibly damaging	Het
Nom1	T	C	5: 29,647,534 (GRCm39)	S590P	probably benign	Het
Noto	T	C	6: 85,402,481 (GRCm39)	F156L	probably damaging	Het
Nrf1	T	A	6: 30,116,271 (GRCm39)	D314E	probably damaging	Het
Nup93	T	C	8: 95,030,260 (GRCm39)	L373P	probably damaging	Het
Or2w1b	A	C	13: 21,300,191 (GRCm39)	I110L	probably benign	Het
Or4a2	T	C	2: 89,247,843 (GRCm39)	K305E	possibly damaging	Het
Or4c11c	A	G	2: 88,661,932 (GRCm39)	Q157R	probably benign	Het
Or5d40	A	T	2: 88,015,310 (GRCm39)	M30L	probably benign	Het
Or5g25	T	A	2: 85,478,512 (GRCm39)	Q51L	not run	Het
Or9s27	A	C	1: 92,516,986 (GRCm39)	R311S	probably benign	Het
Pclo	A	T	5: 14,571,345 (GRCm39)	K243N	probably damaging	Het
Pdgfra	T	A	5: 75,331,264 (GRCm39)	C290S	probably damaging	Het
Pnlip	G	A	19: 58,668,066 (GRCm39)		probably null	Het
Pou2af3	G	A	9: 51,188,900 (GRCm39)	A19V	possibly damaging	Het
Ptprm	A	T	17: 67,032,786 (GRCm39)	H1022Q	probably benign	Het
Rfx2	T	C	17: 57,110,527 (GRCm39)	D153G	probably benign	Het
Rps6ka2	T	C	17: 7,539,032 (GRCm39)	F317L	probably damaging	Het
Rtl1	T	A	12: 109,557,539 (GRCm39)	E1433D	unknown	Het
Sarnp	A	G	10: 128,669,223 (GRCm39)	T27A	probably benign	Het
Shc3	A	T	13: 51,602,042 (GRCm39)	M295K	probably benign	Het
Slc1a3	T	A	15: 8,672,568 (GRCm39)	M304L	probably damaging	Het
Slco1a6	G	T	6: 142,048,727 (GRCm39)	T351K	possibly damaging	Het
Snrk	A	G	9: 121,986,288 (GRCm39)	N219S	probably damaging	Het
Spats2	T	A	15: 99,110,022 (GRCm39)	V473E	probably benign	Het
Stk35	T	C	2: 129,652,645 (GRCm39)	L382P	probably damaging	Het
Tbx10	T	C	19: 4,049,034 (GRCm39)	V315A	probably benign	Het
Tdpoz1	A	G	3: 93,578,082 (GRCm39)	L234P	probably damaging	Het
Ttn	T	G	2: 76,544,489 (GRCm39)	E32832D	probably benign	Het
Ttn	T	C	2: 76,601,530 (GRCm39)	Y18678C	probably damaging	Het
Ugt2a2	A	T	5: 87,622,353 (GRCm39)	M205K	probably damaging	Het
Utrn	C	A	10: 12,516,695 (GRCm39)	V2300L	probably benign	Het
Vmn1r175	T	C	7: 23,507,847 (GRCm39)	N260S	probably benign	Het
Vmn1r63	T	A	7: 5,806,000 (GRCm39)	I211L	probably benign	Het
Vmn1r83	A	G	7: 12,055,542 (GRCm39)	W172R	possibly damaging	Het
Xirp2	T	C	2: 67,340,978 (GRCm39)	L1073P	probably benign	Het
Zfp82	A	G	7: 29,755,597 (GRCm39)	V495A	possibly damaging	Het

Other mutations in Mrpl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Mrpl4	APN	9	20,919,863 (GRCm39)	missense	probably benign
IGL01088:Mrpl4	APN	9	20,914,627 (GRCm39)	missense	probably damaging	1.00
IGL02991:Mrpl4	UTSW	9	20,919,901 (GRCm39)	missense	probably damaging	1.00
R0051:Mrpl4	UTSW	9	20,918,964 (GRCm39)	missense	probably damaging	0.98
R0138:Mrpl4	UTSW	9	20,919,888 (GRCm39)	missense	probably benign	0.06
R0266:Mrpl4	UTSW	9	20,914,610 (GRCm39)	missense	probably benign	0.43
R1449:Mrpl4	UTSW	9	20,918,807 (GRCm39)	missense	possibly damaging	0.89
R1855:Mrpl4	UTSW	9	20,914,667 (GRCm39)	missense	possibly damaging	0.95
R1899:Mrpl4	UTSW	9	20,918,127 (GRCm39)	missense	probably damaging	1.00
R4260:Mrpl4	UTSW	9	20,918,988 (GRCm39)	missense	possibly damaging	0.76
R4406:Mrpl4	UTSW	9	20,918,231 (GRCm39)	missense	probably damaging	1.00
R4622:Mrpl4	UTSW	9	20,918,793 (GRCm39)	missense	probably damaging	0.99
R6359:Mrpl4	UTSW	9	20,919,030 (GRCm39)	missense	probably damaging	1.00
R7201:Mrpl4	UTSW	9	20,918,634 (GRCm39)	missense	probably benign	0.03
R7529:Mrpl4	UTSW	9	20,918,975 (GRCm39)	missense	probably benign	0.01
R8808:Mrpl4	UTSW	9	20,918,978 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GGCAAAATACGCAGTGTAGC -3'
(R):5'- TGCTCTCGGAGGTTCTCAAC -3'

Sequencing Primer
(F):5'- CAGGAGGCTCATCCACGTTC -3'
(R):5'- GCCTTGACCTCAGCTCAGTG -3'

Posted On

2019-10-07