Mutagenetix > Incidental Mutation

Incidental Mutation 'R1472:Mrpl45'

165021

Institutional Source

Beutler Lab

Gene Symbol

Mrpl45

Ensembl Gene

ENSMUSG00000018882

Gene Name

mitochondrial ribosomal protein L45

Synonyms

2600005P05Rik

MMRRC Submission

039525-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R1472 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97206542-97220746 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 97214681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 123 (R123*)

Ref Sequence

ENSEMBL: ENSMUSP00000019026 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019026]

AlphaFold

Q9D0Q7

Predicted Effect

probably null
Transcript: ENSMUST00000019026
AA Change: R123*

SMART Domains

Protein: ENSMUSP00000019026
Gene: ENSMUSG00000018882
AA Change: R123*

Domain	Start	End	E-Value	Type
low complexity region	26	39	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
Tim44	118	266	3.7e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122313

Predicted Effect

probably benign
Transcript: ENSMUST00000132168

SMART Domains

Protein: ENSMUSP00000116306
Gene: ENSMUSG00000018882

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
low complexity region	32	44	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

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. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,773,313 (GRCm39)	T834M	possibly damaging	Het
Ak1	T	C	2: 32,520,313 (GRCm39)	L32P	probably damaging	Het
Ankrd24	A	G	10: 81,470,754 (GRCm39)	D61G	probably damaging	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bmp10	A	G	6: 87,410,779 (GRCm39)	I191V	probably benign	Het
C2cd6	A	T	1: 59,106,944 (GRCm39)	S294T	possibly damaging	Het
C4b	T	A	17: 34,962,743 (GRCm39)	K20*	probably null	Het
Caps2	C	T	10: 112,015,377 (GRCm39)	T139I	probably benign	Het
Cdc25a	T	C	9: 109,705,157 (GRCm39)	S34P	probably benign	Het
Cenpv	T	C	11: 62,427,121 (GRCm39)	I146V	probably benign	Het
Cep57	A	T	9: 13,732,850 (GRCm39)	F32I	probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Cntrl	T	C	2: 35,059,329 (GRCm39)		probably null	Het
Cpd	A	G	11: 76,675,224 (GRCm39)	V1299A	probably damaging	Het
Cpne6	T	C	14: 55,752,092 (GRCm39)	V283A	probably benign	Het
Crot	A	G	5: 9,016,941 (GRCm39)	C584R	probably damaging	Het
Ctsc	A	C	7: 87,930,670 (GRCm39)	H83P	possibly damaging	Het
Dido1	T	C	2: 180,302,513 (GRCm39)	N1797S	probably benign	Het
Dlgap4	C	T	2: 156,602,821 (GRCm39)	Q148*	probably null	Het
Dnah3	T	C	7: 119,670,181 (GRCm39)	D688G	probably benign	Het
Dnmt1	T	C	9: 20,843,472 (GRCm39)	E138G	probably benign	Het
Edc4	T	A	8: 106,619,460 (GRCm39)	M1396K	probably damaging	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Hsd3b6	A	T	3: 98,715,255 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,333,199 (GRCm39)	I1937N	probably benign	Het
Kcnk15	C	A	2: 163,700,127 (GRCm39)	T103K	probably damaging	Het
Kifc3	A	G	8: 95,864,541 (GRCm39)		probably null	Het
Lama3	T	A	18: 12,615,102 (GRCm39)	F1342Y	probably benign	Het
Lilra6	A	T	7: 3,915,718 (GRCm39)	M98K	probably damaging	Het
Map3k21	T	C	8: 126,668,417 (GRCm39)	S668P	probably benign	Het
Mcpt8	T	C	14: 56,319,791 (GRCm39)	T220A	probably benign	Het
Mettl13	C	T	1: 162,364,736 (GRCm39)	V548I	possibly damaging	Het
Mfsd4b4	A	G	10: 39,767,860 (GRCm39)	M411T	probably benign	Het
Mrfap1	A	G	5: 36,953,817 (GRCm39)	S41P	possibly damaging	Het
Mroh2b	A	G	15: 4,978,137 (GRCm39)	I1302V	probably benign	Het
Mstn	T	A	1: 53,101,157 (GRCm39)	I78K	probably damaging	Het
Mtdh	T	C	15: 34,114,191 (GRCm39)	S168P	possibly damaging	Het
Muc15	G	T	2: 110,561,905 (GRCm39)	V114F	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Myocd	G	T	11: 65,078,330 (GRCm39)	H360Q	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nav3	T	C	10: 109,563,802 (GRCm39)	E1627G	probably damaging	Het
Nlrp14	T	C	7: 106,781,910 (GRCm39)	L369P	probably benign	Het
Nlrp6	A	G	7: 140,503,408 (GRCm39)	T505A	probably damaging	Het
Npbwr1	T	C	1: 5,986,900 (GRCm39)	S205G	probably damaging	Het
Nsmaf	G	A	4: 6,423,448 (GRCm39)	R307*	probably null	Het
Or5h19	A	T	16: 58,856,920 (GRCm39)	L60Q	probably damaging	Het
Or9i1b	T	C	19: 13,897,208 (GRCm39)	S275P	probably damaging	Het
Parp9	T	G	16: 35,774,050 (GRCm39)	S341A	possibly damaging	Het
Pdss2	A	G	10: 43,289,533 (GRCm39)	N346S	probably benign	Het
Pikfyve	T	A	1: 65,263,360 (GRCm39)	F503Y	probably damaging	Het
Polr1e	G	T	4: 45,028,026 (GRCm39)	A290S	probably damaging	Het
Ppp1r21	A	T	17: 88,866,033 (GRCm39)	H305L	probably damaging	Het
Prss47	A	G	13: 65,197,103 (GRCm39)	L117P	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rcn2	C	T	9: 55,963,537 (GRCm39)	P222L	probably benign	Het
Rnf144b	T	C	13: 47,396,361 (GRCm39)	Y233H	probably damaging	Het
Rnf17	T	C	14: 56,665,436 (GRCm39)	L196P	probably damaging	Het
Sik2	A	G	9: 50,920,111 (GRCm39)	I22T	probably damaging	Het
Sis	A	G	3: 72,796,360 (GRCm39)	V1807A	probably benign	Het
Slc1a2	T	A	2: 102,568,254 (GRCm39)	I88N	probably damaging	Het
Slc22a22	A	G	15: 57,110,916 (GRCm39)	F437S	probably benign	Het
Slc39a13	A	T	2: 90,899,050 (GRCm39)	C20*	probably null	Het
Sos2	C	T	12: 69,632,090 (GRCm39)		probably null	Het
Sst	A	G	16: 23,709,448 (GRCm39)	V16A	probably benign	Het
Stab1	C	T	14: 30,863,543 (GRCm39)	G2073D	probably benign	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sugct	A	T	13: 17,627,131 (GRCm39)	C241S	probably benign	Het
Svil	T	A	18: 5,048,950 (GRCm39)	C76S	probably benign	Het
Tcaf1	A	G	6: 42,663,382 (GRCm39)	V166A	possibly damaging	Het
Tmem131	A	T	1: 36,855,322 (GRCm39)	N801K	possibly damaging	Het
Tox3	T	C	8: 90,980,973 (GRCm39)	N277S	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Trpm2	C	A	10: 77,801,841 (GRCm39)	V75L	probably damaging	Het
Tshz1	A	C	18: 84,031,930 (GRCm39)	L826R	possibly damaging	Het
Ttn	C	T	2: 76,597,196 (GRCm39)	V19906I	probably damaging	Het
Wnt5a	C	T	14: 28,240,461 (GRCm39)	R184*	probably null	Het
Wnt5b	G	A	6: 119,410,442 (GRCm39)	R333C	probably damaging	Het
Zbtb6	T	C	2: 37,319,356 (GRCm39)	T191A	probably benign	Het
Zc3h4	A	G	7: 16,168,695 (GRCm39)	N935D	unknown	Het
Zc3h7a	C	T	16: 10,978,890 (GRCm39)	R95H	probably damaging	Het
Zfp110	T	C	7: 12,582,468 (GRCm39)	V372A	possibly damaging	Het
Zmym2	C	T	14: 57,148,640 (GRCm39)	S318L	probably benign	Het

Other mutations in Mrpl45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01608:Mrpl45	APN	11	97,207,747 (GRCm39)	missense	probably benign	0.30
IGL03142:Mrpl45	APN	11	97,206,751 (GRCm39)	missense	probably benign	0.00
R0321:Mrpl45	UTSW	11	97,217,764 (GRCm39)	splice site	probably benign
R0589:Mrpl45	UTSW	11	97,214,714 (GRCm39)	missense	probably benign	0.02
R1938:Mrpl45	UTSW	11	97,206,770 (GRCm39)	splice site	probably null
R2105:Mrpl45	UTSW	11	97,216,573 (GRCm39)	missense	probably benign	0.03
R5183:Mrpl45	UTSW	11	97,207,577 (GRCm39)	missense	probably benign	0.02
R5690:Mrpl45	UTSW	11	97,212,412 (GRCm39)	intron	probably benign
R6372:Mrpl45	UTSW	11	97,212,388 (GRCm39)	critical splice donor site	probably benign
R9608:Mrpl45	UTSW	11	97,217,687 (GRCm39)	missense	probably damaging	1.00
Z1176:Mrpl45	UTSW	11	97,212,385 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGCACCTCTGCACCCAGCCTG -3'
(R):5'- GAGTGGAAAGCCAGCCCACCAG -3'

Sequencing Primer
(F):5'- tgtactcactagctcctccc -3'
(R):5'- TAAAATCCAGCCAGTTgtcagg -3'

Posted On

2014-03-28