Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Mrps35'

189022

Institutional Source

Beutler Lab

Gene Symbol

Mrps35

Ensembl Gene

ENSMUSG00000040112

Gene Name

mitochondrial ribosomal protein S35

Synonyms

MDSO23, MRPS28, MRP-S28

MMRRC Submission

039691-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R1655 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

146944270-146972399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 146961726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 200 (D200E)

Ref Sequence

ENSEMBL: ENSMUSP00000048348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036111] [ENSMUST00000137556]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036111
AA Change: D200E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048348
Gene: ENSMUSG00000040112
AA Change: D200E

Domain	Start	End	E-Value	Type
Pfam:MRP-S28	138	262	2.5e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123139

Predicted Effect

probably benign
Transcript: ENSMUST00000137556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143204

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	T	14: 55,797,790 (GRCm39)		probably benign	Het
Abca1	C	T	4: 53,050,964 (GRCm39)	A1582T	probably benign	Het
Acot8	A	T	2: 164,645,028 (GRCm39)	S52T	probably benign	Het
Atcay	C	T	10: 81,049,231 (GRCm39)	V124M	probably damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cfap46	A	T	7: 139,222,436 (GRCm39)	Y1180*	probably null	Het
Clptm1	T	A	7: 19,379,792 (GRCm39)	H148L	probably benign	Het
Clstn3	A	G	6: 124,414,386 (GRCm39)	L743P	probably damaging	Het
Crtc3	A	T	7: 80,248,524 (GRCm39)	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,826,341 (GRCm39)	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,080,543 (GRCm39)	T19K	unknown	Het
Disp1	A	T	1: 182,868,568 (GRCm39)	I1284N	probably benign	Het
Dnah2	A	G	11: 69,364,680 (GRCm39)	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,182,715 (GRCm39)	V205I	possibly damaging	Het
Dst	G	T	1: 34,321,657 (GRCm39)	G4391*	probably null	Het
Dytn	A	G	1: 63,700,357 (GRCm39)	S258P	probably damaging	Het
Emilin3	T	A	2: 160,752,786 (GRCm39)		probably null	Het
Ermn	C	T	2: 57,942,596 (GRCm39)	V45I	probably benign	Het
Fat4	T	C	3: 39,011,467 (GRCm39)	V2189A	probably damaging	Het
Fcgbpl1	A	T	7: 27,846,535 (GRCm39)	N1076Y	probably damaging	Het
Filip1l	T	C	16: 57,392,214 (GRCm39)	I934T	probably damaging	Het
Gbp9	T	A	5: 105,229,558 (GRCm39)	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,730,110 (GRCm39)	E227*	probably null	Het
Gsdmc	C	T	15: 63,651,892 (GRCm39)	V240M	probably benign	Het
H2-Q4	G	T	17: 35,601,881 (GRCm39)	V248F	probably damaging	Het
Helz2	T	C	2: 180,875,940 (GRCm39)	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,506,084 (GRCm39)	V3814A	probably benign	Het
Hoatz	A	T	9: 50,994,921 (GRCm39)	I136N	probably damaging	Het
Ifna7	A	G	4: 88,734,897 (GRCm39)	T145A	probably benign	Het
Itgam	T	A	7: 127,714,335 (GRCm39)	M947K	probably benign	Het
Itpr2	T	G	6: 146,277,646 (GRCm39)	N608H	probably damaging	Het
Klra2	T	A	6: 131,197,174 (GRCm39)	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,850,905 (GRCm39)	L219Q	probably damaging	Het
Ly6c2	T	C	15: 74,980,412 (GRCm39)	I126V	probably benign	Het
Mr1	G	A	1: 155,008,201 (GRCm39)	T258M	probably benign	Het
Nbeal2	A	C	9: 110,461,940 (GRCm39)	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,574,241 (GRCm39)		probably null	Het
Nlrp4a	A	T	7: 26,149,076 (GRCm39)	I228F	possibly damaging	Het
Or13p5	A	G	4: 118,592,196 (GRCm39)	S157G	probably benign	Het
Or5c1	A	G	2: 37,221,951 (GRCm39)	Y64C	probably damaging	Het
Or5p59	A	T	7: 107,702,671 (GRCm39)	I52F	probably damaging	Het
Or8k3	A	G	2: 86,058,424 (GRCm39)	V297A	possibly damaging	Het
Paxx	T	C	2: 25,350,328 (GRCm39)	E93G	probably damaging	Het
Per2	C	A	1: 91,376,490 (GRCm39)	G128W	probably damaging	Het
Piezo1	A	G	8: 123,223,561 (GRCm39)	I796T	probably benign	Het
Pkhd1	A	G	1: 20,654,353 (GRCm39)	S235P	probably damaging	Het
Pole	T	A	5: 110,483,788 (GRCm39)	F259Y	probably damaging	Het
Pus7	T	A	5: 23,952,798 (GRCm39)	K512*	probably null	Het
Ralyl	A	T	3: 14,172,296 (GRCm39)	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,531,347 (GRCm39)	M451K	probably benign	Het
Rhag	T	C	17: 41,142,487 (GRCm39)	F231L	probably damaging	Het
Ric8a	T	C	7: 140,440,808 (GRCm39)	C94R	probably benign	Het
Rictor	T	A	15: 6,801,693 (GRCm39)	D460E	probably benign	Het
Rpn1	T	C	6: 88,077,926 (GRCm39)	V454A	possibly damaging	Het
Sacs	A	G	14: 61,429,231 (GRCm39)	D427G	probably benign	Het
Scai	A	T	2: 38,970,129 (GRCm39)	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 106,973,942 (GRCm39)	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,148,204 (GRCm39)	C277F	probably benign	Het
Slc15a1	A	T	14: 121,703,311 (GRCm39)	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,226,761 (GRCm39)	V628A	probably benign	Het
Slc8a2	G	T	7: 15,875,060 (GRCm39)	G436V	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Supt5	T	C	7: 28,029,449 (GRCm39)	I103V	probably benign	Het
Tdrd1	T	A	19: 56,831,648 (GRCm39)	Y346*	probably null	Het
Tg	T	G	15: 66,700,417 (GRCm39)		probably null	Het
Top1	T	A	2: 160,545,616 (GRCm39)		probably null	Het
Trmt12	T	C	15: 58,745,076 (GRCm39)	L158P	probably damaging	Het
Tssk4	A	G	14: 55,889,152 (GRCm39)	N226S	probably damaging	Het
Unc80	G	T	1: 66,711,915 (GRCm39)	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,325,051 (GRCm39)	V999E	probably benign	Het
Virma	T	C	4: 11,494,786 (GRCm39)	V29A	probably damaging	Het
Zfp40	A	T	17: 23,396,240 (GRCm39)	Y48N	probably benign	Het
Zfp609	A	G	9: 65,610,836 (GRCm39)	V709A	possibly damaging	Het

Other mutations in Mrps35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00912:Mrps35	APN	6	146,957,419 (GRCm39)	missense	possibly damaging	0.86
IGL01776:Mrps35	APN	6	146,972,214 (GRCm39)	missense	probably benign	0.33
IGL02134:Mrps35	APN	6	146,949,808 (GRCm39)	splice site	probably benign
IGL03382:Mrps35	APN	6	146,951,373 (GRCm39)	nonsense	probably null
R0600:Mrps35	UTSW	6	146,972,232 (GRCm39)	missense	possibly damaging	0.53
R0648:Mrps35	UTSW	6	146,957,443 (GRCm39)	nonsense	probably null
R1466:Mrps35	UTSW	6	146,957,482 (GRCm39)	missense	probably damaging	0.98
R1466:Mrps35	UTSW	6	146,957,482 (GRCm39)	missense	probably damaging	0.98
R1584:Mrps35	UTSW	6	146,957,482 (GRCm39)	missense	probably damaging	0.98
R2018:Mrps35	UTSW	6	146,962,982 (GRCm39)	nonsense	probably null
R2257:Mrps35	UTSW	6	146,972,125 (GRCm39)	missense	possibly damaging	0.85
R4989:Mrps35	UTSW	6	146,961,645 (GRCm39)	missense	possibly damaging	0.85
R5174:Mrps35	UTSW	6	146,961,709 (GRCm39)	missense	possibly damaging	0.93
R5453:Mrps35	UTSW	6	146,972,115 (GRCm39)	missense	probably benign	0.32
R6682:Mrps35	UTSW	6	146,949,777 (GRCm39)	missense	possibly damaging	0.86
R7181:Mrps35	UTSW	6	146,957,491 (GRCm39)	critical splice donor site	probably null
R7409:Mrps35	UTSW	6	146,957,481 (GRCm39)	missense	possibly damaging	0.71
R8132:Mrps35	UTSW	6	146,949,661 (GRCm39)	missense	probably benign
X0066:Mrps35	UTSW	6	146,972,218 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CTCGCACTTTGAAAGCATCCGAAC -3'
(R):5'- GCTACACTGTACATCCACGGAAGC -3'

Sequencing Primer
(F):5'- CTAGCTCCATACAGAGAAGTTTGG -3'
(R):5'- acacacacacacaaaagcac -3'

Posted On

2014-05-09