Mutagenetix > Incidental Mutation

Incidental Mutation 'R2862:Mrps18b'

252989

Institutional Source

Beutler Lab

Gene Symbol

Mrps18b

Ensembl Gene

ENSMUSG00000024436

Gene Name

mitochondrial ribosomal protein S18B

Synonyms

2400002C15Rik

MMRRC Submission

040452-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R2862 (G1)

Quality Score

174

Status

Not validated

Chromosome

Chromosomal Location

36221271-36227281 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36221746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 101 (S101L)

Ref Sequence

ENSEMBL: ENSMUSP00000109412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025305] [ENSMUST00000056034] [ENSMUST00000061052] [ENSMUST00000077494] [ENSMUST00000113782] [ENSMUST00000149277] [ENSMUST00000141662] [ENSMUST00000141132] [ENSMUST00000174807]

AlphaFold

Q99N84

Predicted Effect

probably benign
Transcript: ENSMUST00000025305
AA Change: S193L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025305
Gene: ENSMUSG00000024436
AA Change: S193L

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S18	109	161	8.1e-18	PFAM
low complexity region	196	207	N/A	INTRINSIC
low complexity region	208	217	N/A	INTRINSIC
low complexity region	224	245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000056034

SMART Domains

Protein: ENSMUSP00000053853
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	1.5e-57	PFAM
low complexity region	232	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061052

SMART Domains

Protein: ENSMUSP00000056383
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	74	191	1.5e-53	PFAM
Pfam:Acetyltransf_1	88	157	6.8e-5	PFAM
low complexity region	209	228	N/A	INTRINSIC
low complexity region	255	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077494

SMART Domains

Protein: ENSMUSP00000076703
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	2.5e-57	PFAM
low complexity region	232	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113782
AA Change: S101L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000109412
Gene: ENSMUSG00000024436
AA Change: S101L

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S18	18	69	5.1e-16	PFAM
low complexity region	104	115	N/A	INTRINSIC
low complexity region	116	125	N/A	INTRINSIC
low complexity region	132	153	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126744

SMART Domains

Protein: ENSMUSP00000122211
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
Pfam:Mec-17	1	83	2.7e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140990

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130309

Predicted Effect

probably benign
Transcript: ENSMUST00000149277

SMART Domains

Protein: ENSMUSP00000122715
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	2e-57	PFAM
low complexity region	209	228	N/A	INTRINSIC
low complexity region	255	272	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141662

SMART Domains

Protein: ENSMUSP00000115004
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	1.7e-57	PFAM
low complexity region	209	228	N/A	INTRINSIC
low complexity region	255	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141132

SMART Domains

Protein: ENSMUSP00000117824
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
Pfam:Mec-17	29	149	9.1e-59	PFAM
low complexity region	166	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137182

Predicted Effect

probably benign
Transcript: ENSMUST00000172642

Predicted Effect

probably benign
Transcript: ENSMUST00000174349

Predicted Effect

probably benign
Transcript: ENSMUST00000174807

SMART Domains

Protein: ENSMUSP00000133584
Gene: ENSMUSG00000024436

Domain	Start	End	E-Value	Type
SCOP:d1fjgr_	91	128	1e-8	SMART
low complexity region	130	141	N/A	INTRINSIC
low complexity region	142	151	N/A	INTRINSIC
low complexity region	158	179	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174574

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Actg1	T	C	11: 120,237,627 (GRCm39)	I52V	probably benign	Het
Ahi1	T	A	10: 20,857,307 (GRCm39)	V634E	probably damaging	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Apoe	T	C	7: 19,431,479 (GRCm39)	Y46C	probably damaging	Het
Aqr	A	T	2: 113,967,398 (GRCm39)	V539D	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Ccdc121	G	A	5: 31,643,255 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,935,539 (GRCm39)	E392G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Dnah1	C	T	14: 31,006,719 (GRCm39)	G2199S	probably benign	Het
Dnhd1	A	G	7: 105,361,766 (GRCm39)	E3608G	probably benign	Het
Ears2	A	T	7: 121,662,163 (GRCm39)	L95Q	probably damaging	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gata5	C	T	2: 179,976,129 (GRCm39)	G12S	possibly damaging	Het
Gm11938	C	A	11: 99,493,972 (GRCm39)	R41L	probably damaging	Het
Grap2	A	T	15: 80,532,165 (GRCm39)	Q260L	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Lama2	G	A	10: 27,298,608 (GRCm39)	Q163*	probably null	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Lamp5	A	T	2: 135,900,866 (GRCm39)	H22L	probably benign	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Noc2l	A	G	4: 156,321,907 (GRCm39)	D102G	probably benign	Het
Ntn1	T	C	11: 68,276,690 (GRCm39)	E86G	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or4c109	A	T	2: 88,817,664 (GRCm39)	I294K	probably benign	Het
Or52n1	A	G	7: 104,383,425 (GRCm39)	F49L	probably benign	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Pate3	T	A	9: 35,559,415 (GRCm39)	M1L	possibly damaging	Het
Pex2	A	G	3: 5,626,240 (GRCm39)	Y190H	probably damaging	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Rreb1	G	C	13: 38,116,429 (GRCm39)	A1263P	probably benign	Het
Rxfp1	A	G	3: 79,589,778 (GRCm39)	V121A	possibly damaging	Het
Slc35e4	A	T	11: 3,862,796 (GRCm39)	V131D	probably damaging	Het
Smyd4	T	A	11: 75,280,962 (GRCm39)	M145K	probably benign	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Srgap3	A	T	6: 112,699,933 (GRCm39)	F1015Y	probably damaging	Het
Synj1	T	C	16: 90,766,217 (GRCm39)	Y567C	probably damaging	Het
Tbc1d8	G	A	1: 39,441,777 (GRCm39)	Q272*	probably null	Het
Tinf2	T	C	14: 55,918,088 (GRCm39)	D127G	probably damaging	Het
Ube2v1	G	A	2: 167,459,885 (GRCm39)	P39L	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Zc3h6	A	G	2: 128,857,380 (GRCm39)	H633R	probably benign	Het

Other mutations in Mrps18b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3733:Mrps18b	UTSW	17	36,221,759 (GRCm39)	missense	probably damaging	1.00
R3912:Mrps18b	UTSW	17	36,221,831 (GRCm39)	missense	probably benign	0.07
R5485:Mrps18b	UTSW	17	36,225,236 (GRCm39)	missense	probably damaging	1.00
R5510:Mrps18b	UTSW	17	36,225,215 (GRCm39)	splice site	probably benign
R7376:Mrps18b	UTSW	17	36,221,587 (GRCm39)	missense	probably benign
R8145:Mrps18b	UTSW	17	36,225,293 (GRCm39)	missense	possibly damaging	0.93
R8370:Mrps18b	UTSW	17	36,223,254 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TCCCCAGGTCACAAGTTCTAAG -3'
(R):5'- GTTATGACTGGTCCCTCGAC -3'

Sequencing Primer
(F):5'- GTCACAAGTTCTAAGCACTCTGGG -3'
(R):5'- ATGACTGGTCCCTCGACTTGTAG -3'

Posted On

2014-12-04