Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02139:Mrps17'

281475

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: 0.358) question?

Stock #

IGL02139

Quality Score

Status

Chromosome

Chromosomal Location

129792514-129795776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129793860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 18 (I18N)

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 damaging
Transcript: ENSMUST00000042191
AA Change: I18N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040281
Gene: ENSMUSG00000034211
AA Change: I18N

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 damaging
Transcript: ENSMUST00000118420
AA Change: I18N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112993
Gene: ENSMUSG00000034211
AA Change: I18N

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 damaging
Transcript: ENSMUST00000119576
AA Change: I18N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112779
Gene: ENSMUSG00000034211
AA Change: I18N

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 damaging
Transcript: ENSMUST00000119604
AA Change: I18N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114012
Gene: ENSMUSG00000034211
AA Change: I18N

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 damaging
Transcript: ENSMUST00000119985
AA Change: I18N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112762
Gene: ENSMUSG00000034211
AA Change: I18N

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 damaging
Transcript: ENSMUST00000121339
AA Change: I18N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114125
Gene: ENSMUSG00000034211
AA Change: I18N

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 damaging
Transcript: ENSMUST00000121813
AA Change: I18N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114059
Gene: ENSMUSG00000034211
AA Change: I18N

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: ENSMUST00000136108
AA Change: I18N

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122093
Gene: ENSMUSG00000034211
AA Change: I18N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154358
AA Change: I18N

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115189
Gene: ENSMUSG00000034211
AA Change: I18N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000138812
AA Change: I18N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	A	4: 124,504,369 (GRCm39)	T61M	unknown	Het
Adam34l	T	A	8: 44,078,615 (GRCm39)	R536S	probably benign	Het
Ambn	T	C	5: 88,613,149 (GRCm39)	F217L	probably benign	Het
Cast	T	C	13: 74,876,484 (GRCm39)	D121G	possibly damaging	Het
Clmn	T	C	12: 104,747,358 (GRCm39)	I730V	probably benign	Het
Cryzl1	T	C	16: 91,509,139 (GRCm39)	K54R	possibly damaging	Het
Cyp3a16	A	G	5: 145,392,290 (GRCm39)	S222P	probably benign	Het
Dcstamp	T	C	15: 39,617,854 (GRCm39)	S88P	probably damaging	Het
F5	A	G	1: 164,020,243 (GRCm39)	D906G	possibly damaging	Het
Fam193a	A	G	5: 34,602,081 (GRCm39)	T428A	probably benign	Het
Fbxw16	T	G	9: 109,265,754 (GRCm39)	D355A	probably benign	Het
Focad	T	C	4: 88,047,291 (GRCm39)		probably null	Het
Ftsj3	G	A	11: 106,145,489 (GRCm39)	P82S	possibly damaging	Het
Grwd1	A	T	7: 45,476,667 (GRCm39)	H307Q	probably damaging	Het
Hip1r	T	C	5: 124,134,307 (GRCm39)	F289S	probably damaging	Het
Igkc	C	T	6: 70,703,559 (GRCm39)	R47*	probably null	Het
Lcn3	T	C	2: 25,656,646 (GRCm39)	F100S	possibly damaging	Het
Lmnb1	T	C	18: 56,882,871 (GRCm39)	F572S	probably benign	Het
Myo9a	G	A	9: 59,687,275 (GRCm39)	V127I	probably benign	Het
Or2l13b	T	C	16: 19,349,640 (GRCm39)	D10G	probably benign	Het
Or4c35	T	C	2: 89,808,773 (GRCm39)	V217A	possibly damaging	Het
Or5g23	T	A	2: 85,438,574 (GRCm39)	K227*	probably null	Het
Pcdhb21	A	G	18: 37,648,299 (GRCm39)	D476G	probably damaging	Het
Pkd2l2	T	A	18: 34,545,768 (GRCm39)	Y56*	probably null	Het
Pld1	C	A	3: 28,174,961 (GRCm39)	D86E	probably damaging	Het
Plpp1	A	G	13: 112,993,433 (GRCm39)	T122A	probably benign	Het
Prkag3	A	G	1: 74,779,883 (GRCm39)	I484T	probably benign	Het
Prl7d1	T	A	13: 27,896,066 (GRCm39)	I104F	probably damaging	Het
Prr14l	A	G	5: 32,984,876 (GRCm39)	S1540P	probably damaging	Het
Pyroxd1	T	G	6: 142,300,457 (GRCm39)	S196A	probably benign	Het
Rbm42	G	A	7: 30,345,130 (GRCm39)	P185S	unknown	Het
Ror2	T	A	13: 53,265,200 (GRCm39)	I619F	probably damaging	Het
Slitrk4	T	G	X: 63,314,555 (GRCm39)	E704A	probably benign	Het
Sycp1	A	G	3: 102,772,430 (GRCm39)	V626A	probably benign	Het
Trmt44	T	A	5: 35,726,143 (GRCm39)	K345*	probably null	Het
Ugt1a6b	T	A	1: 88,035,527 (GRCm39)		probably benign	Het
Ulk4	T	A	9: 120,970,897 (GRCm39)		probably null	Het
Zfp618	G	T	4: 63,051,773 (GRCm39)	K758N	probably damaging	Het
Zfp819	G	T	7: 43,261,534 (GRCm39)		probably null	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
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
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

2015-04-16