Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01649:Mrpl40'

102773

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrpl40

Ensembl Gene

ENSMUSG00000022706

Gene Name

mitochondrial ribosomal protein L40

Synonyms

Nlvcf

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

IGL01649

Quality Score

Status

Chromosome

Chromosomal Location

18690768-18695612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18691329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 127 (Q127R)

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: Q127R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000023391
Gene: ENSMUSG00000022706
AA Change: Q127R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119273
AA Change: Q83R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113065
Gene: ENSMUSG00000022706
AA Change: Q83R

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,217,116 (GRCm39)	S220P	probably benign	Het
Adam18	T	C	8: 25,104,912 (GRCm39)	N634S	possibly damaging	Het
Arhgef18	T	A	8: 3,491,211 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,911,541 (GRCm39)	S1518G	probably benign	Het
Cltc	A	G	11: 86,617,226 (GRCm39)	V341A	probably benign	Het
Dlg5	A	G	14: 24,188,759 (GRCm39)	V1721A	probably damaging	Het
Dnah10	A	T	5: 124,809,553 (GRCm39)	I274F	probably damaging	Het
Dock1	T	A	7: 134,379,139 (GRCm39)	L622Q	probably damaging	Het
Dysf	A	G	6: 84,176,821 (GRCm39)	D1960G	probably damaging	Het
Fat3	T	C	9: 16,288,015 (GRCm39)	T503A	possibly damaging	Het
Glb1	A	G	9: 114,253,016 (GRCm39)	Y73C	probably damaging	Het
Gm9396	G	T	3: 129,862,268 (GRCm39)		noncoding transcript	Het
Gml2	G	T	15: 74,696,070 (GRCm39)	E155*	probably null	Het
Ikzf4	G	A	10: 128,471,689 (GRCm39)	R323C	probably damaging	Het
Kiz	A	G	2: 146,731,229 (GRCm39)	T240A	probably benign	Het
Lzts3	T	C	2: 130,477,351 (GRCm39)	K480E	probably damaging	Het
Mcm7	T	C	5: 138,167,698 (GRCm39)	H105R	probably damaging	Het
Mpdz	A	G	4: 81,221,870 (GRCm39)	L1464P	probably damaging	Het
Mrgpra9	A	C	7: 46,884,900 (GRCm39)	L256V	probably benign	Het
Myom2	G	T	8: 15,163,755 (GRCm39)	R1003L	probably benign	Het
Nav2	A	G	7: 49,225,477 (GRCm39)	T1806A	probably damaging	Het
Or10x4	T	C	1: 174,218,974 (GRCm39)	L113P	probably damaging	Het
Pibf1	A	T	14: 99,425,199 (GRCm39)	Y562F	possibly damaging	Het
Potefam1	A	T	2: 111,044,921 (GRCm39)		probably benign	Het
Ppm1n	A	T	7: 19,012,122 (GRCm39)		probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Septin8	T	A	11: 53,425,855 (GRCm39)	F143I	possibly damaging	Het
Sestd1	A	G	2: 77,029,389 (GRCm39)	Y330H	probably damaging	Het
Sntg1	C	T	1: 8,752,193 (GRCm39)		probably benign	Het
Stpg2	C	A	3: 139,125,623 (GRCm39)	P472Q	probably damaging	Het
Thbs1	A	G	2: 117,945,463 (GRCm39)	K314R	probably benign	Het
Vav3	T	C	3: 109,470,078 (GRCm39)	Y508H	probably benign	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
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
R2252: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

Posted On

2014-01-21