Mutagenetix > Incidental Mutation

Incidental Mutation 'R2410:Mrps17'

249946

Institutional Source

Beutler Lab

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 #

R2410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129792514-129795776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129795047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 64 (V64A)

Ref Sequence

ENSEMBL: ENSMUSP00000115189 (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: V64A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040281
Gene: ENSMUSG00000034211
AA Change: V64A

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: V64A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112993
Gene: ENSMUSG00000034211
AA Change: V64A

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: V64A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112779
Gene: ENSMUSG00000034211
AA Change: V64A

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: V64A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114012
Gene: ENSMUSG00000034211
AA Change: V64A

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: V64A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112762
Gene: ENSMUSG00000034211
AA Change: V64A

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: V64A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114125
Gene: ENSMUSG00000034211
AA Change: V64A

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: V64A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114059
Gene: ENSMUSG00000034211
AA Change: V64A

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: ENSMUST00000136108
AA Change: V64A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122093
Gene: ENSMUSG00000034211
AA Change: V64A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000154358
AA Change: V64A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115189
Gene: ENSMUSG00000034211
AA Change: V64A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199999

Predicted Effect

probably benign
Transcript: ENSMUST00000138812

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

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 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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Adgrf5	C	A	17: 43,766,157 (GRCm39)	N1326K	probably benign	Het
Ciita	A	G	16: 10,328,568 (GRCm39)	E284G	probably damaging	Het
Ctbp2	T	C	7: 132,616,083 (GRCm39)	Y284C	probably benign	Het
Dnah11	T	C	12: 117,991,262 (GRCm39)	D2368G	probably damaging	Het
Enpp3	C	T	10: 24,650,716 (GRCm39)	V807I	probably benign	Het
Erich3	A	G	3: 154,439,240 (GRCm39)	D491G	probably damaging	Het
Ero1a	C	T	14: 45,542,723 (GRCm39)	V101I	possibly damaging	Het
Fbxl7	A	G	15: 26,895,111 (GRCm39)	Y9H	possibly damaging	Het
Fzd2	A	G	11: 102,496,453 (GRCm39)	Y299C	possibly damaging	Het
Lamc1	G	A	1: 153,123,141 (GRCm39)	T683M	possibly damaging	Het
Lrrc39	C	T	3: 116,374,899 (GRCm39)	P327S	probably benign	Het
Marf1	A	T	16: 13,933,691 (GRCm39)	F1566I	probably benign	Het
Me2	A	T	18: 73,924,183 (GRCm39)	M343K	probably damaging	Het
Mlxip	T	A	5: 123,581,132 (GRCm39)	W260R	probably damaging	Het
Or4c118	A	T	2: 88,974,899 (GRCm39)	I156N	possibly damaging	Het
Phldb3	C	T	7: 24,323,719 (GRCm39)	S450L	probably benign	Het
Pi4k2a	A	G	19: 42,093,316 (GRCm39)	E219G	possibly damaging	Het
Polr1a	T	C	6: 71,951,866 (GRCm39)	S1478P	probably benign	Het
Rab14	T	C	2: 35,076,762 (GRCm39)		probably null	Het
Rnf43	T	C	11: 87,623,085 (GRCm39)	Y729H	possibly damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Sorbs1	T	A	19: 40,361,959 (GRCm39)	I142F	probably damaging	Het
Tmem255b	A	G	8: 13,491,278 (GRCm39)	I66V	probably benign	Het
Vmn2r9	T	C	5: 108,996,123 (GRCm39)	D175G	probably damaging	Het
Zfp954	A	T	7: 7,120,808 (GRCm39)	I74N	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGAACTAGAGTGACAGCAGTG -3'
(R):5'- TGGGTTCAGGAGACCTTGAG -3'

Sequencing Primer
(F):5'- GCAGCTTCCCGGAGTTG -3'
(R):5'- GTTCAGGAGACCTTGAGCTCCTC -3'

Posted On

2014-11-12