Mutagenetix > Incidental Mutation

Incidental Mutation 'R1855:Mrpl4'

206031

Institutional Source

Beutler Lab

Gene Symbol

Mrpl4

Ensembl Gene

ENSMUSG00000003299

Gene Name

mitochondrial ribosomal protein L4

Synonyms

1110017G11Rik

MMRRC Submission

039879-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R1855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21002738-21008839 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21003371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 81 (E81G)

Ref Sequence

ENSEMBL: ENSMUSP00000150591 (fasta)

Gene Model

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

AlphaFold

Q9DCU6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003386
AA Change: E81G

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003386
Gene: ENSMUSG00000003299
AA Change: E81G

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

noncoding transcript
Transcript: ENSMUST00000213977

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214124
AA Change: E81G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216175
AA Change: E81G

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216325

Predicted Effect

probably benign
Transcript: ENSMUST00000216466

Predicted Effect

unknown
Transcript: ENSMUST00000216818
AA Change: E80G

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216824
AA Change: E81G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (72/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,747,971	L285Q	probably damaging	Het
Acaca	T	C	11: 84,371,554	L1994P	probably damaging	Het
Adamts9	A	G	6: 92,901,369		probably benign	Het
Aff3	T	C	1: 38,210,304	E574G	probably benign	Het
Ankrd1	T	C	19: 36,119,235	K64R	probably damaging	Het
Arhgap23	T	C	11: 97,448,697	I163T	probably damaging	Het
Ascc3	A	T	10: 50,617,922	Q151L	probably benign	Het
Atad2	G	A	15: 58,097,289	P971L	possibly damaging	Het
C1s1	A	C	6: 124,534,356		probably null	Het
Ccdc150	T	C	1: 54,367,910		probably benign	Het
Cdhr3	A	T	12: 33,060,352	I311N	probably damaging	Het
Chad	T	A	11: 94,565,477	L127H	probably damaging	Het
Clasp1	G	A	1: 118,508,894	A303T	probably damaging	Het
Clptm1	A	G	7: 19,638,209	V234A	probably benign	Het
Cnih3	C	A	1: 181,454,621	S140*	probably null	Het
Col24a1	G	A	3: 145,459,140	G1033D	probably damaging	Het
Csnk1a1	T	A	18: 61,575,427		probably null	Het
Cttnbp2	T	A	6: 18,378,413	I1475L	probably benign	Het
Dnah5	T	C	15: 28,411,669	V3728A	possibly damaging	Het
Dock9	C	A	14: 121,640,159	V391F	probably damaging	Het
Ehmt2	A	T	17: 34,910,776	I949F	probably damaging	Het
Eif4g1	C	A	16: 20,687,161	T1025K	possibly damaging	Het
Enpp2	C	T	15: 54,845,823	E803K	probably damaging	Het
Esrrg	A	T	1: 188,211,098	M423L	probably damaging	Het
Etnppl	A	T	3: 130,620,722	I89F	probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam122b	T	A	X: 53,254,056	Q201H	probably benign	Het
Fbln7	A	G	2: 128,893,835	T248A	possibly damaging	Het
Galnt9	C	T	5: 110,615,524	T465M	probably damaging	Het
Grcc10	A	G	6: 124,740,578	V57A	probably benign	Het
Herc1	T	A	9: 66,391,426	M614K	possibly damaging	Het
Itch	C	T	2: 155,172,454		probably benign	Het
Kdm6b	C	A	11: 69,407,286	A167S	probably damaging	Het
Kidins220	C	T	12: 25,056,591	R1348C	probably damaging	Het
Kif17	T	C	4: 138,288,271	L577P	probably benign	Het
Krt25	A	T	11: 99,318,315	L258Q	probably damaging	Het
March10	T	C	11: 105,390,392	T356A	probably benign	Het
Mical2	G	A	7: 112,345,282	A940T	probably benign	Het
Mtcl1	A	G	17: 66,379,514	V447A	probably benign	Het
Mtor	C	A	4: 148,553,089	N2502K	probably benign	Het
Notch4	G	A	17: 34,580,962	D966N	probably benign	Het
Oip5	C	A	2: 119,611,790	K214N	probably benign	Het
Olfr160	A	T	9: 37,711,970	F103Y	possibly damaging	Het
Pak7	A	T	2: 136,087,509	S585T	probably benign	Het
Pard3	T	A	8: 127,447,812		probably null	Het
Pcnx2	A	T	8: 125,807,996		probably benign	Het
Pcsk5	T	C	19: 17,515,192	Y939C	possibly damaging	Het
Pde1a	A	G	2: 79,898,064		probably null	Het
Pde9a	C	T	17: 31,455,120	P60S	probably damaging	Het
Pikfyve	C	A	1: 65,258,798	T1562K	probably benign	Het
Plekhg6	A	T	6: 125,375,839	M115K	probably damaging	Het
Pogz	C	T	3: 94,878,849	T863I	probably benign	Het
Ppp1r3a	A	T	6: 14,754,994	W85R	probably damaging	Het
Rnf123	C	A	9: 108,061,791	R826L	probably damaging	Het
Slc1a6	T	A	10: 78,812,924	V493E	probably damaging	Het
Slc22a2	A	G	17: 12,586,812	D150G	probably damaging	Het
Snap47	C	T	11: 59,428,333		probably benign	Het
Spata22	A	G	11: 73,340,559	D213G	probably benign	Het
St6galnac2	T	A	11: 116,690,315	R60S	probably benign	Het
Stk32c	A	G	7: 139,121,447	F263S	probably damaging	Het
Supt6	T	C	11: 78,232,540	I104V	possibly damaging	Het
Tex2	T	C	11: 106,546,876	E158G	possibly damaging	Het
Tiam2	C	T	17: 3,415,135	R380C	probably damaging	Het
Trim25	C	T	11: 89,015,581	T410I	probably benign	Het
Usp18	T	A	6: 121,262,117	C212S	probably benign	Het
Vmn1r2	A	G	4: 3,172,588	Y169C	probably damaging	Het
Wdr33	A	T	18: 31,906,856		probably benign	Het
Xpr1	A	G	1: 155,283,256	Y597H	probably benign	Het
Yy1	CGGG	CGGGGGGGGG	12: 108,793,990		probably benign	Het
Zfp54	T	A	17: 21,434,142	Y299*	probably null	Het
Zfp566	T	G	7: 30,078,502	S85R	probably benign	Het

Other mutations in Mrpl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Mrpl4	APN	9	21008567	missense	probably benign
IGL01088:Mrpl4	APN	9	21003331	missense	probably damaging	1.00
IGL02991:Mrpl4	UTSW	9	21008605	missense	probably damaging	1.00
R0051:Mrpl4	UTSW	9	21007668	missense	probably damaging	0.98
R0138:Mrpl4	UTSW	9	21008592	missense	probably benign	0.06
R0266:Mrpl4	UTSW	9	21003314	missense	probably benign	0.43
R1449:Mrpl4	UTSW	9	21007511	missense	possibly damaging	0.89
R1899:Mrpl4	UTSW	9	21006831	missense	probably damaging	1.00
R4260:Mrpl4	UTSW	9	21007692	missense	possibly damaging	0.76
R4406:Mrpl4	UTSW	9	21006935	missense	probably damaging	1.00
R4622:Mrpl4	UTSW	9	21007497	missense	probably damaging	0.99
R6359:Mrpl4	UTSW	9	21007734	missense	probably damaging	1.00
R7201:Mrpl4	UTSW	9	21007338	missense	probably benign	0.03
R7476:Mrpl4	UTSW	9	21002771	unclassified	probably benign
R7529:Mrpl4	UTSW	9	21007679	missense	probably benign	0.01
R8808:Mrpl4	UTSW	9	21007682	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- TTTCAGAGCCGCGAGATAGC -3'
(R):5'- GGTCTGACAAAACGGAGACC -3'

Sequencing Primer
(F):5'- CGGGACCTTGACACACAGAG -3'
(R):5'- CGGAGACCCAAGCACAAGAG -3'

Posted On

2014-06-23