Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01904:Mrps17'

179627

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 #

IGL01904

Quality Score

Status

Chromosome

Chromosomal Location

129792514-129795776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129793865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 20 (T20A)

Ref Sequence

ENSEMBL: ENSMUSP00000122093 (fasta)

Gene Model

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

AlphaFold

Q9CQE3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042191
AA Change: T20A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040281
Gene: ENSMUSG00000034211
AA Change: T20A

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

possibly damaging
Transcript: ENSMUST00000118420
AA Change: T20A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112993
Gene: ENSMUSG00000034211
AA Change: T20A

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

possibly damaging
Transcript: ENSMUST00000119576
AA Change: T20A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112779
Gene: ENSMUSG00000034211
AA Change: T20A

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

possibly damaging
Transcript: ENSMUST00000119604
AA Change: T20A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114012
Gene: ENSMUSG00000034211
AA Change: T20A

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

possibly damaging
Transcript: ENSMUST00000119985
AA Change: T20A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112762
Gene: ENSMUSG00000034211
AA Change: T20A

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

possibly damaging
Transcript: ENSMUST00000121339
AA Change: T20A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114125
Gene: ENSMUSG00000034211
AA Change: T20A

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

possibly damaging
Transcript: ENSMUST00000121813
AA Change: T20A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114059
Gene: ENSMUSG00000034211
AA Change: T20A

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

possibly damaging
Transcript: ENSMUST00000154358
AA Change: T20A

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115189
Gene: ENSMUSG00000034211
AA Change: T20A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000136108
AA Change: T20A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122093
Gene: ENSMUSG00000034211
AA Change: T20A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138812
AA Change: T20A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnah5	T	C	15: 28,307,510 (GRCm39)	I1746T	probably benign	Het
Eml3	T	C	19: 8,914,130 (GRCm39)		probably benign	Het
Eml6	C	A	11: 29,788,613 (GRCm39)	E491*	probably null	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Hs3st2	C	T	7: 121,100,207 (GRCm39)	P351L	probably damaging	Het
Igf2r	A	T	17: 12,933,798 (GRCm39)	Y819N	probably damaging	Het
Kifc3	C	A	8: 95,864,585 (GRCm39)	A42S	possibly damaging	Het
Msh6	T	C	17: 88,292,160 (GRCm39)	V305A	probably benign	Het
Or6b1	T	C	6: 42,815,223 (GRCm39)	M136T	possibly damaging	Het
Or7e176	T	G	9: 20,171,586 (GRCm39)	M150R	probably damaging	Het
Pappa2	A	G	1: 158,611,511 (GRCm39)	L1484P	probably damaging	Het
Polr3c	A	T	3: 96,623,981 (GRCm39)		probably null	Het
Ros1	C	A	10: 51,954,007 (GRCm39)	E1877D	probably damaging	Het
Slc5a4b	T	C	10: 75,896,260 (GRCm39)	N565S	probably damaging	Het
Slf2	T	C	19: 44,937,580 (GRCm39)		probably null	Het
Speer1m	A	C	5: 11,971,423 (GRCm39)	N125T	probably benign	Het
Suclg2	A	T	6: 95,565,915 (GRCm39)		probably benign	Het
Sult2a8	T	C	7: 14,159,382 (GRCm39)	E79G	probably damaging	Het
Triobp	A	G	15: 78,851,564 (GRCm39)	T573A	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfand5	C	T	19: 21,257,122 (GRCm39)		probably benign	Het
Zfhx4	C	A	3: 5,477,769 (GRCm39)	H3461Q	probably damaging	Het

Other mutations in Mrps17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Mrps17	APN	5	129,793,829 (GRCm39)	missense	probably benign	0.01
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

2014-05-07