Mutagenetix > Incidental Mutation

Incidental Mutation 'R7554:Mrps31'

584623

Institutional Source

Beutler Lab

Gene Symbol

Mrps31

Ensembl Gene

ENSMUSG00000031533

Gene Name

mitochondrial ribosomal protein S31

Synonyms

Imogen44, 1500002D03Rik

MMRRC Submission

045651-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R7554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22901377-22919681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22911445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 229 (K229R)

Ref Sequence

ENSEMBL: ENSMUSP00000033934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033934]

AlphaFold

Q61733

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033934
AA Change: K229R

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033934
Gene: ENSMUSG00000031533
AA Change: K229R

Domain	Start	End	E-Value	Type
Pfam:MRP-S31	85	378	3.8e-118	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,686 (GRCm39)	F185I	probably damaging	Het
Abi3bp	T	A	16: 56,438,575 (GRCm39)		probably null	Het
Acot5	T	A	12: 84,120,254 (GRCm39)	L203H	probably damaging	Het
Alad	C	T	4: 62,430,023 (GRCm39)		probably null	Het
Alkbh5	C	T	11: 60,429,415 (GRCm39)	T56I	probably benign	Het
Apbb1ip	G	A	2: 22,713,558 (GRCm39)	D138N	unknown	Het
BC049715	T	G	6: 136,817,295 (GRCm39)	S178R	probably damaging	Het
C1rb	C	A	6: 124,557,365 (GRCm39)	H501N	probably damaging	Het
Celsr3	A	T	9: 108,718,408 (GRCm39)	M2327L	probably benign	Het
Cers4	G	A	8: 4,565,718 (GRCm39)	V55I	probably benign	Het
Cngb3	A	T	4: 19,461,753 (GRCm39)	K545*	probably null	Het
Crb1	C	T	1: 139,265,019 (GRCm39)	C133Y	probably damaging	Het
Cryba4	C	T	5: 112,398,969 (GRCm39)	R25Q	probably damaging	Het
Cyp7b1	C	T	3: 18,151,610 (GRCm39)	G201D	probably benign	Het
Dcun1d2	A	T	8: 13,331,077 (GRCm39)	C18S	probably benign	Het
Ddx39b	A	T	17: 35,466,006 (GRCm39)	I176F	probably benign	Het
Dnah7a	A	G	1: 53,567,857 (GRCm39)	I1913T	possibly damaging	Het
Eif2ak1	T	C	5: 143,816,296 (GRCm39)	I198T	probably damaging	Het
Esp34	G	A	17: 38,866,782 (GRCm39)	M75I	probably benign	Het
Fam98a	G	T	17: 75,854,670 (GRCm39)	C46*	probably null	Het
Fanci	A	T	7: 79,062,500 (GRCm39)	N342I	probably damaging	Het
Fat1	A	T	8: 45,490,202 (GRCm39)	I3705F	possibly damaging	Het
Fbxw7	T	A	3: 84,883,620 (GRCm39)	V598D		Het
Gas2l2	G	A	11: 83,315,236 (GRCm39)	Q306*	probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gigyf2	T	A	1: 87,335,292 (GRCm39)	S378T	unknown	Het
Hao1	C	T	2: 134,372,538 (GRCm39)	V157M	possibly damaging	Het
Hdlbp	C	T	1: 93,365,031 (GRCm39)	V79M	probably damaging	Het
Htt	G	A	5: 35,022,084 (GRCm39)	R1676H	probably damaging	Het
Ift56	T	A	6: 38,362,435 (GRCm39)	L70Q	probably null	Het
Klhl11	A	G	11: 100,354,774 (GRCm39)	V349A	probably benign	Het
Lama2	T	C	10: 27,031,492 (GRCm39)	E1522G	probably damaging	Het
Map3k4	T	A	17: 12,451,300 (GRCm39)	K1531M	probably damaging	Het
Map3k4	T	A	17: 12,451,301 (GRCm39)	K1531*	probably null	Het
Mapk15	A	G	15: 75,867,745 (GRCm39)	Y120C	possibly damaging	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mgat4d	A	C	8: 84,082,402 (GRCm39)	K117N	probably benign	Het
Mid1	G	T	X: 168,769,010 (GRCm39)	S468I	possibly damaging	Het
Mmp8	T	C	9: 7,563,112 (GRCm39)	L225P	probably damaging	Het
Muc5b	A	T	7: 141,412,513 (GRCm39)	T1820S	unknown	Het
Myof	T	C	19: 37,942,958 (GRCm39)	T707A	probably benign	Het
Nckap5l	A	T	15: 99,327,261 (GRCm39)	S143T	probably benign	Het
Notch3	A	G	17: 32,341,345 (GRCm39)	S2136P	probably benign	Het
Nphp3	A	T	9: 103,919,270 (GRCm39)	D1306V	probably damaging	Het
Or10ag56	T	A	2: 87,139,349 (GRCm39)	M92K	probably damaging	Het
Or1e1b-ps1	C	T	11: 73,845,630 (GRCm39)	T38I	probably damaging	Het
Or2at1	T	A	7: 99,417,210 (GRCm39)	N280K	possibly damaging	Het
Or52n1	T	C	7: 104,383,074 (GRCm39)	I166V	probably benign	Het
Or56b1	T	C	7: 104,285,733 (GRCm39)	M284T	probably benign	Het
Or5k15	T	C	16: 58,709,769 (GRCm39)	I271M	probably benign	Het
Pabpc4l	T	A	3: 46,401,549 (GRCm39)	T32S	probably benign	Het
Pcdhb10	A	C	18: 37,544,935 (GRCm39)	T4P	probably benign	Het
Pkhd1l1	A	G	15: 44,358,866 (GRCm39)	I358M	probably damaging	Het
Plekhg1	A	G	10: 3,913,647 (GRCm39)	E1178G		Het
Prkcd	A	T	14: 30,331,220 (GRCm39)	Y52N	probably damaging	Het
Rasa3	G	A	8: 13,645,390 (GRCm39)	T183M	probably damaging	Het
Rbm26	G	T	14: 105,398,029 (GRCm39)	A31D	unknown	Het
Scara3	T	C	14: 66,158,299 (GRCm39)	T570A	possibly damaging	Het
Sec24d	T	A	3: 123,149,423 (GRCm39)	V810D	probably damaging	Het
Sgcz	A	T	8: 38,030,426 (GRCm39)		probably null	Het
Stt3b	A	G	9: 115,109,477 (GRCm39)		probably null	Het
Synpo	G	T	18: 60,736,405 (GRCm39)	Q514K	probably benign	Het
Tagln2	G	T	1: 172,333,411 (GRCm39)	K88N	probably damaging	Het
Tcaf1	T	A	6: 42,654,388 (GRCm39)	K601N	probably benign	Het
Tent4a	G	T	13: 69,648,191 (GRCm39)	H734Q	probably damaging	Het
Tprn	T	C	2: 25,153,811 (GRCm39)	F371S	probably damaging	Het
Ttn	A	T	2: 76,671,652 (GRCm39)	V11304E	unknown	Het
Ttn	C	T	2: 76,706,207 (GRCm39)	W9171*	probably null	Het
Vmn2r50	A	T	7: 9,784,066 (GRCm39)	M136K	probably null	Het
Zfp518b	G	A	5: 38,830,415 (GRCm39)	P530L	probably damaging	Het
Zfp941	C	A	7: 140,391,970 (GRCm39)	S463I	possibly damaging	Het

Other mutations in Mrps31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Mrps31	APN	8	22,919,206 (GRCm39)	missense	probably damaging	1.00
IGL00909:Mrps31	APN	8	22,917,841 (GRCm39)	missense	probably damaging	1.00
IGL01818:Mrps31	APN	8	22,901,483 (GRCm39)	start codon destroyed	probably null	1.00
R0304:Mrps31	UTSW	8	22,911,354 (GRCm39)	missense	probably benign	0.06
R1230:Mrps31	UTSW	8	22,909,759 (GRCm39)	missense	possibly damaging	0.60
R4702:Mrps31	UTSW	8	22,909,754 (GRCm39)	missense	probably damaging	1.00
R5947:Mrps31	UTSW	8	22,904,991 (GRCm39)	missense	possibly damaging	0.95
R6143:Mrps31	UTSW	8	22,901,539 (GRCm39)	missense	probably benign	0.22
R6473:Mrps31	UTSW	8	22,904,881 (GRCm39)	missense	probably benign	0.01
R7404:Mrps31	UTSW	8	22,911,429 (GRCm39)	missense	probably benign	0.28
R7877:Mrps31	UTSW	8	22,914,367 (GRCm39)	missense	probably benign
R9381:Mrps31	UTSW	8	22,904,752 (GRCm39)	missense	probably damaging	1.00
R9627:Mrps31	UTSW	8	22,901,558 (GRCm39)	missense	probably benign	0.00
RF007:Mrps31	UTSW	8	22,909,880 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCTCATTGCAGCTCCAGTGC -3'
(R):5'- GGTGCAATTTCAGAGAAGATACC -3'

Sequencing Primer
(F):5'- AGCTCCAGTGCCGCTAAGATC -3'
(R):5'- AAATGCCCTAGCCTGATTGG -3'

Posted On

2019-10-17