Mutagenetix > Incidental Mutation

Incidental Mutation 'R0350:Mrps17'

29649

Institutional Source

Beutler Lab

Gene Symbol

Mrps17

Ensembl Gene

ENSMUSG00000034211

Gene Name

mitochondrial ribosomal protein S17

Synonyms

MMRRC Submission

038557-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

R0350 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129792514-129795776 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 129795209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115189 (fasta)

Gene Model

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

AlphaFold

Q9CQE3

Predicted Effect

unknown
Transcript: ENSMUST00000042191
AA Change: K118R

SMART Domains

Protein: ENSMUSP00000040281
Gene: ENSMUSG00000034211
AA Change: K118R

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

unknown
Transcript: ENSMUST00000118420
AA Change: K118R

SMART Domains

Protein: ENSMUSP00000112993
Gene: ENSMUSG00000034211
AA Change: K118R

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

unknown
Transcript: ENSMUST00000119576
AA Change: K118R

SMART Domains

Protein: ENSMUSP00000112779
Gene: ENSMUSG00000034211
AA Change: K118R

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

unknown
Transcript: ENSMUST00000119604
AA Change: K118R

SMART Domains

Protein: ENSMUSP00000114012
Gene: ENSMUSG00000034211
AA Change: K118R

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

unknown
Transcript: ENSMUST00000119985
AA Change: K118R

SMART Domains

Protein: ENSMUSP00000112762
Gene: ENSMUSG00000034211
AA Change: K118R

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

unknown
Transcript: ENSMUST00000121339
AA Change: K118R

SMART Domains

Protein: ENSMUSP00000114125
Gene: ENSMUSG00000034211
AA Change: K118R

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

unknown
Transcript: ENSMUST00000121813
AA Change: K118R

SMART Domains

Protein: ENSMUSP00000114059
Gene: ENSMUSG00000034211
AA Change: K118R

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

noncoding transcript
Transcript: ENSMUST00000199999

Predicted Effect

probably benign
Transcript: ENSMUST00000136108

SMART Domains

Protein: ENSMUSP00000122093
Gene: ENSMUSG00000034211

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138812

Predicted Effect

probably benign
Transcript: ENSMUST00000154358

SMART Domains

Protein: ENSMUSP00000115189
Gene: ENSMUSG00000034211

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

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 89.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	A	8: 10,037,600 (GRCm39)	Y66N	probably damaging	Het
Apol6	C	T	15: 76,935,147 (GRCm39)	Q139*	probably null	Het
Armh1	C	A	4: 117,072,753 (GRCm39)	E244*	probably null	Het
Cd1d1	A	T	3: 86,904,880 (GRCm39)	H219Q	probably benign	Het
Cdca2	A	G	14: 67,950,568 (GRCm39)	L121P	probably benign	Het
Cdin1	T	C	2: 115,607,411 (GRCm39)	Y255H	possibly damaging	Het
Cog4	T	A	8: 111,580,328 (GRCm39)	L133I	possibly damaging	Het
Csf1	T	C	3: 107,655,922 (GRCm39)	M370V	probably benign	Het
Ddi2	G	A	4: 141,412,834 (GRCm39)	T26M	probably benign	Het
Dhcr7	A	G	7: 143,391,507 (GRCm39)	D32G	probably damaging	Het
Efcab3	T	C	11: 104,581,706 (GRCm39)	V16A	probably benign	Het
Exd1	T	C	2: 119,354,047 (GRCm39)	N337S	possibly damaging	Het
Flii	T	C	11: 60,612,683 (GRCm39)	D227G	probably damaging	Het
Hsf1	A	G	15: 76,384,679 (GRCm39)	T485A	probably benign	Het
Igfn1	G	A	1: 135,884,505 (GRCm39)	R2614*	probably null	Het
Iqch	T	C	9: 63,408,158 (GRCm39)	T630A	probably benign	Het
Itgal	T	A	7: 126,921,253 (GRCm39)	D770E	probably damaging	Het
Mroh1	T	A	15: 76,316,449 (GRCm39)	V759E	probably damaging	Het
Mtpap	A	G	18: 4,396,195 (GRCm39)	S496G	possibly damaging	Het
Nkd1	T	A	8: 89,311,844 (GRCm39)	Y39*	probably null	Het
Nmd3	A	G	3: 69,650,907 (GRCm39)	Y359C	probably damaging	Het
Nr1h3	G	A	2: 91,022,170 (GRCm39)	L153F	possibly damaging	Het
Nuf2	T	A	1: 169,341,112 (GRCm39)		probably null	Het
Or4b1b	T	C	2: 90,112,926 (GRCm39)		probably null	Het
Or4c113	T	A	2: 88,885,700 (GRCm39)	K23N	probably benign	Het
Or8b12i	A	T	9: 20,082,032 (GRCm39)	Y278*	probably null	Het
Pnn	T	C	12: 59,113,903 (GRCm39)		probably null	Het
Ppm1j	A	G	3: 104,690,687 (GRCm39)	D230G	probably benign	Het
Ppp1r15a	A	T	7: 45,172,442 (GRCm39)	L650Q	probably damaging	Het
Prss37	T	C	6: 40,491,893 (GRCm39)	E229G	probably damaging	Het
Rbm19	T	C	5: 120,266,372 (GRCm39)	V465A	possibly damaging	Het
Rubcnl	G	T	14: 75,278,331 (GRCm39)	V372F	probably damaging	Het
Sema6a	G	T	18: 47,403,785 (GRCm39)	D595E	probably benign	Het
Slc35c1	A	G	2: 92,289,377 (GRCm39)	F43S	probably damaging	Het
Slc39a5	C	T	10: 128,232,619 (GRCm39)		probably null	Het
Slco4c1	A	G	1: 96,756,574 (GRCm39)	F583L	probably benign	Het
Sox9	A	G	11: 112,675,702 (GRCm39)	Y297C	probably damaging	Het
Taf1b	A	G	12: 24,564,884 (GRCm39)	D167G	possibly damaging	Het
Trpm6	T	C	19: 18,861,321 (GRCm39)		probably null	Het
Uba6	A	C	5: 86,292,237 (GRCm39)	V402G	possibly damaging	Het
Usp43	T	C	11: 67,767,324 (GRCm39)	Y682C	probably damaging	Het
Vmn1r195	A	G	13: 22,463,403 (GRCm39)	D291G	probably damaging	Het
Xpr1	A	T	1: 155,206,214 (GRCm39)	F156Y	probably damaging	Het
Yju2b	C	T	8: 84,987,277 (GRCm39)	E99K	probably damaging	Het
Zfp318	T	A	17: 46,724,124 (GRCm39)	H2042Q	probably benign	Het
Zfp937	T	A	2: 150,081,222 (GRCm39)	D417E	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTGCAAAACCGTGGAGTAGAAAC -3'
(R):5'- TGCCGCATCCTTAGGCATACAGAG -3'

Sequencing Primer
(F):5'- tgtgtgtgtgtgtgtTCTTTTTG -3'
(R):5'- GCATCCTTAGGCATACAGAGTAATC -3'

Posted On

2013-04-24