Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01619:Mrpl40'

92515

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 #

IGL01619

Quality Score

Status

Chromosome

Chromosomal Location

18690768-18695612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18691294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 139 (M139L)

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: M139L

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

SMART Domains

Protein: ENSMUSP00000023391
Gene: ENSMUSG00000022706
AA Change: M139L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119273
AA Change: M95L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113065
Gene: ENSMUSG00000022706
AA Change: M95L

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
Ankrd46	T	C	15: 36,486,113 (GRCm39)	T47A	possibly damaging	Het
Asxl3	T	G	18: 22,656,385 (GRCm39)	V1465G	probably damaging	Het
Celsr3	A	T	9: 108,711,756 (GRCm39)	D1657V	probably damaging	Het
Celsr3	A	G	9: 108,714,603 (GRCm39)	H1995R	probably benign	Het
Cimip2b	G	A	4: 43,427,814 (GRCm39)	T170I	possibly damaging	Het
Cntn6	G	A	6: 104,705,335 (GRCm39)		probably benign	Het
Def6	C	T	17: 28,426,838 (GRCm39)	L8F	probably damaging	Het
Dnah9	T	A	11: 65,722,441 (GRCm39)	K1940*	probably null	Het
Dock10	A	G	1: 80,612,015 (GRCm39)		probably benign	Het
Fam72a	A	G	1: 131,461,650 (GRCm39)	I112V	probably benign	Het
Fgl1	A	T	8: 41,650,008 (GRCm39)	W258R	probably damaging	Het
Ints6l	G	T	X: 55,542,104 (GRCm39)		probably benign	Het
Lifr	A	T	15: 7,220,643 (GRCm39)	N1091I	probably damaging	Het
Mga	T	C	2: 119,762,309 (GRCm39)	I1100T	possibly damaging	Het
Myom1	T	C	17: 71,351,471 (GRCm39)		probably benign	Het
Or2m12	T	A	16: 19,104,909 (GRCm39)	T195S	probably damaging	Het
Pcdhb5	T	C	18: 37,455,992 (GRCm39)	F791L	probably damaging	Het
Prss29	T	C	17: 25,540,113 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,299,900 (GRCm39)		probably null	Het
Serpinb9e	A	G	13: 33,439,108 (GRCm39)	K178R	probably damaging	Het
Shtn1	A	G	19: 59,016,601 (GRCm39)	S233P	probably damaging	Het
Smpd1	G	A	7: 105,204,549 (GRCm39)	V143M	possibly damaging	Het
Terb1	G	A	8: 105,199,646 (GRCm39)	H433Y	probably benign	Het
Traf6	C	T	2: 101,520,443 (GRCm39)	Q164*	probably null	Het
Trip12	C	A	1: 84,792,631 (GRCm39)	R4L	probably damaging	Het
Ttn	G	A	2: 76,693,879 (GRCm39)	P208S	possibly damaging	Het
Ube2c	T	C	2: 164,613,232 (GRCm39)	I50T	probably damaging	Het
Uggt1	T	C	1: 36,200,775 (GRCm39)	D1174G	probably damaging	Het
Vmn2r121	T	G	X: 123,041,997 (GRCm39)	M387L	probably benign	Het
Vmn2r18	T	A	5: 151,510,229 (GRCm39)	N48I	probably benign	Het
Zc3h15	T	C	2: 83,490,517 (GRCm39)	L217P	probably damaging	Het
Zyg11a	T	A	4: 108,062,414 (GRCm39)	E129V	probably damaging	Het

Other mutations in Mrpl40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-12-09