Mutagenetix > Incidental Mutation

Incidental Mutation 'R4512:Mrpl40'

331288

Institutional Source

Beutler Lab

Gene Symbol

Mrpl40

Ensembl Gene

ENSMUSG00000022706

Gene Name

mitochondrial ribosomal protein L40

Synonyms

Nlvcf

MMRRC Submission

041587-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R4512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18690768-18695612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18691308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 134 (D134G)

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: D134G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000023391
Gene: ENSMUSG00000022706
AA Change: D134G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119273
AA Change: D90G

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

SMART Domains

Protein: ENSMUSP00000113065
Gene: ENSMUSG00000022706
AA Change: D90G

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

Meta Mutation Damage Score

0.1006

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (67/68)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,978,573 (GRCm39)	D573V	probably damaging	Het
Adgrg5	T	C	8: 95,660,652 (GRCm39)	V93A	possibly damaging	Het
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Alpk1	T	C	3: 127,478,120 (GRCm39)		probably benign	Het
Aopep	A	T	13: 63,304,481 (GRCm39)	T497S	probably damaging	Het
Atp6v1h	T	C	1: 5,168,358 (GRCm39)		probably null	Het
Aup1	C	T	6: 83,033,368 (GRCm39)	R248*	probably null	Het
BC016579	C	A	16: 45,453,363 (GRCm39)	A151S	possibly damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chsy3	A	G	18: 59,543,259 (GRCm39)	D799G	probably damaging	Het
Dnah6	G	A	6: 73,155,399 (GRCm39)	R739W	probably damaging	Het
Dync2h1	A	T	9: 7,085,009 (GRCm39)	C553*	probably null	Het
Fhl4	A	G	10: 84,934,578 (GRCm39)	S68P	possibly damaging	Het
Gcc1	T	C	6: 28,419,208 (GRCm39)	E375G	probably benign	Het
Gm10110	A	G	14: 90,135,151 (GRCm39)		noncoding transcript	Het
Hspbap1	C	T	16: 35,607,611 (GRCm39)	S39F	probably damaging	Het
Lmln	G	A	16: 32,908,507 (GRCm39)	R311Q	probably benign	Het
Ly6e	T	A	15: 74,829,682 (GRCm39)	V24D	probably damaging	Het
Magi3	T	C	3: 103,996,871 (GRCm39)	T225A	probably damaging	Het
Mark1	C	A	1: 184,639,286 (GRCm39)	R577L	probably benign	Het
Mlxip	G	T	5: 123,533,128 (GRCm39)	V46L	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nalcn	T	C	14: 123,532,860 (GRCm39)	Y1300C	probably damaging	Het
Nav3	T	C	10: 109,529,943 (GRCm39)	I2133V	possibly damaging	Het
Ndst3	T	C	3: 123,465,315 (GRCm39)	D219G	probably damaging	Het
Nfkbie	C	T	17: 45,867,165 (GRCm39)	S100L	probably benign	Het
Oard1	A	G	17: 48,723,788 (GRCm39)	I145V	probably benign	Het
Odf2	C	T	2: 29,816,109 (GRCm39)		probably null	Het
Oplah	A	G	15: 76,182,155 (GRCm39)	L1035P	probably damaging	Het
Or4n4b	C	A	14: 50,536,453 (GRCm39)	L104F	probably damaging	Het
Or51t4	T	C	7: 102,597,945 (GRCm39)	L81P	probably damaging	Het
Or5m3b	T	C	2: 85,871,913 (GRCm39)	S85P	probably damaging	Het
Otud7a	T	C	7: 63,379,625 (GRCm39)	F284L	probably benign	Het
Parg	T	C	14: 31,984,693 (GRCm39)	V241A	probably damaging	Het
Pla2g4a	T	A	1: 149,736,802 (GRCm39)		probably null	Het
Psd4	C	T	2: 24,292,901 (GRCm39)	R684C	probably damaging	Het
Pttg1ip	T	C	10: 77,432,902 (GRCm39)		probably benign	Het
R3hcc1	A	G	14: 69,936,060 (GRCm39)	S250P	probably damaging	Het
Rere	T	A	4: 150,561,909 (GRCm39)	Y272N	unknown	Het
Selplg	A	G	5: 113,957,124 (GRCm39)	V394A	probably benign	Het
Senp7	T	G	16: 55,986,246 (GRCm39)	F559V	probably damaging	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Smim3	A	T	18: 60,608,556 (GRCm39)	V32D	probably damaging	Het
Spsb3	A	G	17: 25,109,270 (GRCm39)	D47G	probably damaging	Het
St6gal2	A	T	17: 55,790,018 (GRCm39)	N351Y	probably benign	Het
Stk11	T	C	10: 79,962,211 (GRCm39)		probably benign	Het
Susd1	A	T	4: 59,329,491 (GRCm39)	L646Q	possibly damaging	Het
Tmprss11a	A	G	5: 86,576,437 (GRCm39)	V138A	probably benign	Het
Ttn	C	A	2: 76,728,969 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,580,814 (GRCm39)	K15033E	probably damaging	Het
Tyrp1	G	T	4: 80,755,749 (GRCm39)	D173Y	probably damaging	Het
Uncx	A	G	5: 139,532,522 (GRCm39)	I196V	possibly damaging	Het
Vamp4	A	T	1: 162,405,457 (GRCm39)	D28V	possibly damaging	Het
Vmn2r78	C	T	7: 86,569,452 (GRCm39)	S115F	probably benign	Het
Zeb1	G	A	18: 5,759,007 (GRCm39)	C138Y	probably damaging	Het
Zfp985	G	A	4: 147,668,020 (GRCm39)	C296Y	probably damaging	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
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
R5877:Mrpl40	UTSW	16	18,691,135 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTTGGTGATATCATTGTACCTG -3'
(R):5'- GCTGGTAGTAGGGCACTTAAG -3'

Sequencing Primer
(F):5'- GGTGATATCATTGTACCTGCCTTCAG -3'
(R):5'- CACTTAAGTCATGTGCAGTCAC -3'

Posted On

2015-07-21