Mutagenetix > Incidental Mutation

Incidental Mutation 'R2252:Mrpl40'

241776

Institutional Source

Beutler Lab

Gene Symbol

Mrpl40

Ensembl Gene

ENSMUSG00000022706

Gene Name

mitochondrial ribosomal protein L40

Synonyms

Nlvcf

MMRRC Submission

040252-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R2252 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18690768-18695612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18694125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 29 (H29R)

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

probably benign
Transcript: ENSMUST00000023391
AA Change: H29R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023391
Gene: ENSMUSG00000022706
AA Change: H29R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119273

SMART Domains

Protein: ENSMUSP00000113065
Gene: ENSMUSG00000022706

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,380,061 (GRCm39)	S79F	probably damaging	Het
Acaca	G	T	11: 84,262,358 (GRCm39)	V1987L	probably damaging	Het
B3gnt3	A	T	8: 72,145,462 (GRCm39)	M302K	probably damaging	Het
BC048507	T	C	13: 68,011,626 (GRCm39)	M1T	probably null	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Casp3	G	T	8: 47,090,990 (GRCm39)	W214L	probably damaging	Het
Cd180	A	T	13: 102,842,906 (GRCm39)	K651*	probably null	Het
Cdh15	T	A	8: 123,584,161 (GRCm39)	D87E	probably damaging	Het
Cldn24	G	T	8: 48,275,363 (GRCm39)	R62S	probably benign	Het
Cnot1	A	G	8: 96,489,814 (GRCm39)	V463A	probably benign	Het
Cspg4	C	T	9: 56,805,330 (GRCm39)	T2047I	probably damaging	Het
Cul2	A	T	18: 3,399,876 (GRCm39)	L3F	probably damaging	Het
Cwc27	A	T	13: 104,768,237 (GRCm39)	H419Q	probably damaging	Het
Dgkg	A	T	16: 22,441,010 (GRCm39)	M1K	probably null	Het
Dock5	A	T	14: 68,022,261 (GRCm39)	L1171H	probably damaging	Het
Drc1	G	T	5: 30,500,075 (GRCm39)	V103F	probably benign	Het
Ep400	A	T	5: 110,866,957 (GRCm39)	N1062K	unknown	Het
Faap20	A	C	4: 155,335,010 (GRCm39)	E37A	possibly damaging	Het
Foxa2	A	G	2: 147,886,086 (GRCm39)	F243S	probably damaging	Het
Gzf1	T	C	2: 148,525,856 (GRCm39)	M109T	probably damaging	Het
Itch	T	A	2: 155,054,259 (GRCm39)	M701K	probably benign	Het
Kpna1	T	C	16: 35,841,939 (GRCm39)	Y280H	possibly damaging	Het
L1td1	A	G	4: 98,625,874 (GRCm39)		probably null	Het
Lrrc37a	T	C	11: 103,392,293 (GRCm39)	Q1044R	probably benign	Het
Lrrc52	A	T	1: 167,293,937 (GRCm39)	I116N	probably damaging	Het
Mbd5	A	G	2: 49,147,698 (GRCm39)	E636G	probably damaging	Het
Nrip1	T	C	16: 76,088,173 (GRCm39)	Y1128C	probably damaging	Het
Or10d3	G	T	9: 39,461,273 (GRCm39)	A298D	probably damaging	Het
Or4g16	A	G	2: 111,136,655 (GRCm39)	Y35C	probably damaging	Het
Or5ak20	A	G	2: 85,184,202 (GRCm39)	S23P	possibly damaging	Het
Or8c8	A	G	9: 38,165,126 (GRCm39)	I135V	probably benign	Het
Pard3	A	T	8: 128,337,080 (GRCm39)	E1232V	probably damaging	Het
Pcif1	A	G	2: 164,732,799 (GRCm39)	E628G	probably benign	Het
Pcsk1	C	A	13: 75,274,845 (GRCm39)	A478D	probably benign	Het
Pkd1l2	T	C	8: 117,784,177 (GRCm39)	Y700C	probably damaging	Het
Pknox2	T	C	9: 36,821,816 (GRCm39)	N270D	probably benign	Het
Plcb2	T	C	2: 118,554,246 (GRCm39)	N69S	probably benign	Het
Reep1	T	A	6: 71,733,426 (GRCm39)		probably null	Het
Sash1	A	T	10: 8,605,741 (GRCm39)	M883K	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin4	A	G	11: 87,480,637 (GRCm39)	N405D	possibly damaging	Het
Serpinb3b	T	C	1: 107,083,208 (GRCm39)	I231M	possibly damaging	Het
Serping1	A	G	2: 84,600,195 (GRCm39)	S322P	probably damaging	Het
Slc7a2	T	C	8: 41,358,658 (GRCm39)	Y334H	probably benign	Het
Spink5	G	T	18: 44,153,891 (GRCm39)	E1013*	probably null	Het
Thoc3	A	T	13: 54,615,646 (GRCm39)	N139K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tubb2b	T	A	13: 34,314,198 (GRCm39)	I7F	possibly damaging	Het
Upf2	A	G	2: 5,966,271 (GRCm39)	D297G	unknown	Het
Vmn2r18	T	C	5: 151,508,441 (GRCm39)	I228V	possibly damaging	Het
Vmn2r98	A	C	17: 19,300,698 (GRCm39)	S567R	probably benign	Het
Vwa5a	T	C	9: 38,639,376 (GRCm39)	I369T	probably damaging	Het
Yjefn3	A	C	8: 70,342,095 (GRCm39)	F42V	probably damaging	Het
Zfp472	A	T	17: 33,195,257 (GRCm39)	R69*	probably null	Het
Zfp536	T	C	7: 37,178,814 (GRCm39)	S200G	probably benign	Het
Zfp970	T	A	2: 177,166,614 (GRCm39)		probably null	Het

Other mutations in Mrpl40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01619:Mrpl40	APN	16	18,691,294 (GRCm39)	missense	probably benign	0.02
IGL01649:Mrpl40	APN	16	18,691,329 (GRCm39)	missense	probably benign	0.02
R0524:Mrpl40	UTSW	16	18,692,302 (GRCm39)	missense	possibly damaging	0.93
R1509:Mrpl40	UTSW	16	18,694,159 (GRCm39)	critical splice acceptor site	probably null
R1876:Mrpl40	UTSW	16	18,691,224 (GRCm39)	missense	probably benign	0.17
R2251:Mrpl40	UTSW	16	18,694,125 (GRCm39)	missense	probably benign	0.03
R2428:Mrpl40	UTSW	16	18,691,125 (GRCm39)	missense	probably damaging	0.98
R4512:Mrpl40	UTSW	16	18,691,308 (GRCm39)	missense	probably benign	0.02
R5877:Mrpl40	UTSW	16	18,691,135 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAAAGGACAGAGGCATCCAC -3'
(R):5'- ATTGTCTCAAGTTGCAAGATAGCC -3'

Sequencing Primer
(F):5'- GACAGAGGCATCCACTTAAATTTAAC -3'
(R):5'- TCAAGTTGCAAGATAGCCCGAATTAG -3'

Posted On

2014-10-16