Mutagenetix > Incidental Mutation

Incidental Mutation 'R0524:Mrpl40'

48807

Institutional Source

Beutler Lab

Gene Symbol

Mrpl40

Ensembl Gene

ENSMUSG00000022706

Gene Name

mitochondrial ribosomal protein L40

Synonyms

Nlvcf

MMRRC Submission

038717-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R0524 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18872018-18876862 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18873552 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 94 (F94S)

Ref Sequence

ENSEMBL: ENSMUSP00000023391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004222] [ENSMUST00000023391] [ENSMUST00000119273] [ENSMUST00000120532] [ENSMUST00000128321] [ENSMUST00000144609] [ENSMUST00000153397] [ENSMUST00000190050]

AlphaFold

Q9Z2Q5

Predicted Effect

probably benign
Transcript: ENSMUST00000004222

SMART Domains

Protein: ENSMUSP00000004222
Gene: ENSMUSG00000022702

Domain	Start	End	E-Value	Type
WD40	1	44	1.56e-1	SMART
WD40	59	98	9.67e-7	SMART
WD40	120	159	3.58e-10	SMART
WD40	163	202	7.22e-6	SMART
WD40	212	254	9.17e1	SMART
WD40	257	313	1.54e0	SMART
WD40	319	356	2.86e0	SMART
low complexity region	405	412	N/A	INTRINSIC
Pfam:HIRA_B	448	470	1.9e-10	PFAM
low complexity region	493	507	N/A	INTRINSIC
low complexity region	540	556	N/A	INTRINSIC
low complexity region	600	614	N/A	INTRINSIC
low complexity region	626	641	N/A	INTRINSIC
Pfam:Hira	761	960	2.9e-61	PFAM
low complexity region	979	989	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023391
AA Change: F94S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023391
Gene: ENSMUSG00000022706
AA Change: F94S

Domain	Start	End	E-Value	Type
Pfam:MRP-L28	45	199	1.3e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119273
AA Change: F50S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113065
Gene: ENSMUSG00000022706
AA Change: F50S

Domain	Start	End	E-Value	Type
Pfam:MRP-L28	1	155	6.4e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120532

SMART Domains

Protein: ENSMUSP00000112614
Gene: ENSMUSG00000022702

Domain	Start	End	E-Value	Type
WD40	15	54	9.67e-7	SMART
WD40	76	115	3.58e-10	SMART
WD40	119	158	7.22e-6	SMART
WD40	168	210	9.17e1	SMART
WD40	213	269	1.54e0	SMART
WD40	275	312	2.86e0	SMART
low complexity region	361	368	N/A	INTRINSIC
Pfam:HIRA_B	404	427	1.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128321

Predicted Effect

probably benign
Transcript: ENSMUST00000144609

Predicted Effect

probably benign
Transcript: ENSMUST00000153397

SMART Domains

Protein: ENSMUSP00000117944
Gene: ENSMUSG00000022702

Domain	Start	End	E-Value	Type
Blast:WD40	1	40	1e-18	BLAST
SCOP:d1erja_	7	33	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190050

SMART Domains

Protein: ENSMUSP00000141101
Gene: ENSMUSG00000099908

Domain	Start	End	E-Value	Type
low complexity region	26	37	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232123

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.4%
20x: 92.4%

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. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,747,059		probably benign	Het
Adamts16	T	C	13: 70,800,894	E216G	probably benign	Het
Aoc3	C	A	11: 101,337,511	P715T	probably damaging	Het
Bnipl	T	C	3: 95,249,829	D33G	probably benign	Het
Celsr2	T	C	3: 108,401,587	H1701R	probably damaging	Het
Clca3b	T	A	3: 144,825,321	H756L	probably benign	Het
Clca4a	A	G	3: 144,969,393	W159R	probably damaging	Het
Ddx49	A	T	8: 70,296,924	I252N	probably damaging	Het
Duox2	T	C	2: 122,281,836	T1290A	possibly damaging	Het
Fam111a	T	A	19: 12,588,048	I431K	probably damaging	Het
Fam135b	A	T	15: 71,462,284	D1020E	probably benign	Het
Flii	A	G	11: 60,720,061	V514A	probably damaging	Het
Frmpd1	G	A	4: 45,256,902	V157M	probably damaging	Het
Frmpd1	A	G	4: 45,283,774	D865G	probably benign	Het
Gm6970	T	A	19: 47,170,494	K214M	unknown	Het
Gsr	G	A	8: 33,669,180		probably null	Het
Hps3	A	T	3: 20,012,776	V542E	probably damaging	Het
Kcnj5	A	G	9: 32,322,974	I15T	probably benign	Het
Kif2b	T	C	11: 91,575,724	R578G	probably benign	Het
Lamb2	A	G	9: 108,484,372	R676G	possibly damaging	Het
Myo7b	C	T	18: 32,013,424	V103M	possibly damaging	Het
Nmt2	T	A	2: 3,305,437	W69R	probably benign	Het
Nsd3	C	A	8: 25,700,577	Q1130K	possibly damaging	Het
Olfml1	T	C	7: 107,590,177	S150P	probably damaging	Het
Olfr123	A	T	17: 37,795,605	K54*	probably null	Het
Olfr1471	A	G	19: 13,445,864	N284S	probably damaging	Het
Pask	A	T	1: 93,310,834	W1310R	probably damaging	Het
Pcdh18	T	C	3: 49,755,642	Q408R	probably damaging	Het
Pfkm	A	G	15: 98,131,607	I700V	probably benign	Het
Pias1	A	G	9: 62,952,178	V16A	probably damaging	Het
Pnpla8	C	T	12: 44,283,618	Q318*	probably null	Het
Ppp1cc	C	T	5: 122,172,770	R142*	probably null	Het
Pygl	T	A	12: 70,207,724	N149I	probably damaging	Het
Rapgef6	T	A	11: 54,690,284	S1285T	probably benign	Het
Rdh13	A	C	7: 4,444,297	C10W	probably damaging	Het
Rgr	A	T	14: 37,038,295	C273S	probably benign	Het
Ripk4	G	T	16: 97,755,287	Y22*	probably null	Het
Slc34a2	G	A	5: 53,064,873	W302*	probably null	Het
Smarce1	G	A	11: 99,214,062	T263M	probably damaging	Het
Sypl	C	T	12: 32,967,565	P94L	possibly damaging	Het
Tet3	A	G	6: 83,379,942	I878T	probably damaging	Het
Tmem232	A	G	17: 65,485,942	S87P	probably damaging	Het
Tmem260	A	G	14: 48,472,478	T163A	probably benign	Het
Ttn	T	C	2: 76,725,452	Y30403C	probably damaging	Het
Ubash3b	A	T	9: 41,016,608	M468K	probably benign	Het
Ulk4	A	G	9: 121,252,651		probably null	Het
Vmn1r72	A	G	7: 11,669,792	F243S	probably benign	Het
Wrap73	A	G	4: 154,145,307	Y45C	probably damaging	Het
Zfp704	T	C	3: 9,609,364	D119G	unknown	Het
Zfp719	A	G	7: 43,589,253		probably null	Het

Other mutations in Mrpl40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01619:Mrpl40	APN	16	18872544	missense	probably benign	0.02
IGL01649:Mrpl40	APN	16	18872579	missense	probably benign	0.02
R1509:Mrpl40	UTSW	16	18875409	critical splice acceptor site	probably null
R1876:Mrpl40	UTSW	16	18872474	missense	probably benign	0.17
R2251:Mrpl40	UTSW	16	18875375	missense	probably benign	0.03
R2252:Mrpl40	UTSW	16	18875375	missense	probably benign	0.03
R2428:Mrpl40	UTSW	16	18872375	missense	probably damaging	0.98
R4512:Mrpl40	UTSW	16	18872558	missense	probably benign	0.02
R5877:Mrpl40	UTSW	16	18872385	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTCTATGTCAAGGGTCAGAGC -3'
(R):5'- TCCTATCCGTCCTGAGGTTGAGTG -3'

Sequencing Primer
(F):5'- TGGAGCAAAGCTGATCTAAACTC -3'
(R):5'- TGCTTGTACCCACTAGAGCAG -3'

Posted On

2013-06-12