Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00834:Mrps17'

12092

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mrps17

Ensembl Gene

ENSMUSG00000034211

Gene Name

mitochondrial ribosomal protein S17

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

IGL00834

Quality Score

Status

Chromosome

Chromosomal Location

129792514-129795776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129793829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 8 (V8I)

Ref Sequence

ENSEMBL: ENSMUSP00000115097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042191] [ENSMUST00000118420] [ENSMUST00000119576] [ENSMUST00000119604] [ENSMUST00000119985] [ENSMUST00000121339] [ENSMUST00000121813] [ENSMUST00000136108] [ENSMUST00000154358] [ENSMUST00000138812]

AlphaFold

Q9CQE3

Predicted Effect

probably benign
Transcript: ENSMUST00000042191
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000040281
Gene: ENSMUSG00000034211
AA Change: V8I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118420
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112993
Gene: ENSMUSG00000034211
AA Change: V8I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119576
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112779
Gene: ENSMUSG00000034211
AA Change: V8I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	83	1.1e-17	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119604
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000114012
Gene: ENSMUSG00000034211
AA Change: V8I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119985
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112762
Gene: ENSMUSG00000034211
AA Change: V8I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121339
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000114125
Gene: ENSMUSG00000034211
AA Change: V8I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121813
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000114059
Gene: ENSMUSG00000034211
AA Change: V8I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	1.9e-8	PFAM
low complexity region	106	117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136108
AA Change: V8I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000122093
Gene: ENSMUSG00000034211
AA Change: V8I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	84	3.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154358
AA Change: V8I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000115189
Gene: ENSMUSG00000034211
AA Change: V8I

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17	15	75	5.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138812
AA Change: V8I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199999

Coding Region Coverage

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 S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	G	13: 4,562,664 (GRCm39)		probably null	Het
Alg5	T	C	3: 54,652,140 (GRCm39)		probably benign	Het
App	A	T	16: 84,762,599 (GRCm39)	F675I	probably damaging	Het
Atad1	C	A	19: 32,675,968 (GRCm39)	C152F	probably benign	Het
Atp2a3	A	C	11: 72,873,613 (GRCm39)	I829L	probably damaging	Het
B3galt1	C	T	2: 67,949,050 (GRCm39)	S255L	probably damaging	Het
Bptf	A	G	11: 106,964,754 (GRCm39)	V1417A	possibly damaging	Het
Cast	T	A	13: 74,885,093 (GRCm39)	T219S	probably damaging	Het
Cep95	A	T	11: 106,709,043 (GRCm39)	I705F	probably damaging	Het
Cnot3	C	T	7: 3,653,854 (GRCm39)	A2V	probably damaging	Het
Col1a1	A	G	11: 94,840,204 (GRCm39)	D1084G	unknown	Het
Col5a3	G	A	9: 20,697,685 (GRCm39)	Q873*	probably null	Het
Cubn	C	T	2: 13,386,738 (GRCm39)	G1509D	probably damaging	Het
Defb10	T	A	8: 22,351,952 (GRCm39)	C66S	possibly damaging	Het
Dennd4b	T	C	3: 90,186,993 (GRCm39)		probably null	Het
Dido1	G	A	2: 180,331,319 (GRCm39)	T43M	possibly damaging	Het
Hmcn1	C	T	1: 150,506,091 (GRCm39)	V3812I	probably benign	Het
Islr2	T	C	9: 58,107,069 (GRCm39)	T64A	probably benign	Het
Kif2b	A	T	11: 91,467,206 (GRCm39)	I359N	probably damaging	Het
Kit	A	C	5: 75,806,619 (GRCm39)	N704T	probably damaging	Het
Ksr1	A	G	11: 78,918,343 (GRCm39)	F604L	probably damaging	Het
Lrp5	A	T	19: 3,699,404 (GRCm39)	F294I	probably benign	Het
Lrrn1	A	G	6: 107,545,269 (GRCm39)	T356A	probably benign	Het
Nop56	T	A	2: 130,117,915 (GRCm39)	H130Q	possibly damaging	Het
Plg	T	A	17: 12,630,380 (GRCm39)	L639Q	probably damaging	Het
Ppcdc	A	G	9: 57,322,423 (GRCm39)	F159L	probably benign	Het
Ppp1ca	A	G	19: 4,244,519 (GRCm39)	T193A	probably benign	Het
Prpf39	A	G	12: 65,090,037 (GRCm39)	D117G	probably damaging	Het
Ranbp2	C	A	10: 58,289,145 (GRCm39)	T51K	possibly damaging	Het
Sytl2	A	G	7: 90,031,844 (GRCm39)		probably benign	Het
Tenm2	T	A	11: 35,915,085 (GRCm39)	I2150F	probably damaging	Het
Wdr11	T	G	7: 129,194,817 (GRCm39)		probably null	Het

Other mutations in Mrps17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01904:Mrps17	APN	5	129,793,865 (GRCm39)	missense	probably damaging	1.00
IGL02137:Mrps17	APN	5	129,793,847 (GRCm39)	missense	probably benign	0.16
IGL02139:Mrps17	APN	5	129,793,860 (GRCm39)	missense	probably damaging	0.97
IGL03266:Mrps17	APN	5	129,793,806 (GRCm39)	utr 5 prime	probably benign
R0350:Mrps17	UTSW	5	129,795,209 (GRCm39)	unclassified	probably benign
R2410:Mrps17	UTSW	5	129,795,047 (GRCm39)	missense	probably damaging	1.00
R7329:Mrps17	UTSW	5	129,793,705 (GRCm39)	intron	probably benign
R7337:Mrps17	UTSW	5	129,793,863 (GRCm39)	missense	probably damaging	1.00
R9017:Mrps17	UTSW	5	129,793,857 (GRCm39)	missense	probably damaging	0.96

Posted On

2012-12-06