Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Rps17'

570740

Institutional Source

Beutler Lab

Gene Symbol

Rps17

Ensembl Gene

ENSMUSG00000061787

Gene Name

ribosomal protein S17

Synonyms

MMRRC Submission

045439-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R7353 (G1)

Quality Score

163.009

Status

Not validated

Chromosome

Chromosomal Location

80992481-80994982 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80994093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 76 (E76V)

Ref Sequence

ENSEMBL: ENSMUSP00000079628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080813] [ENSMUST00000098331] [ENSMUST00000130310] [ENSMUST00000178892]

AlphaFold

P63276

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080813
AA Change: E76V

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079628
Gene: ENSMUSG00000061787
AA Change: E76V

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17e	1	119	9.7e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098331

SMART Domains

Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586

Domain	Start	End	E-Value	Type
low complexity region	112	126	N/A	INTRINSIC
low complexity region	176	195	N/A	INTRINSIC
RRM	311	386	2.6e-4	SMART
RRM_2	430	506	2.7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130310

SMART Domains

Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC
low complexity region	171	190	N/A	INTRINSIC
RRM	306	376	1.35e-1	SMART
RRM	420	496	6.36e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178892

SMART Domains

Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586

Domain	Start	End	E-Value	Type
Pfam:CEBP1_N	1	307	2.5e-153	PFAM
RRM	312	387	6.25e-2	SMART
RRM	431	507	6.36e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,624,714 (GRCm39)	A11S	unknown	Het
Aadacl4	G	A	4: 144,344,490 (GRCm39)	V89I	probably damaging	Het
Abcc9	T	A	6: 142,546,731 (GRCm39)	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,403,495 (GRCm39)	I427F	probably damaging	Het
Alox12e	T	C	11: 70,212,261 (GRCm39)	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,542,993 (GRCm39)	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,211,710 (GRCm39)	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,306,341 (GRCm39)	T454A	probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Boc	C	T	16: 44,306,100 (GRCm39)	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,413,368 (GRCm39)	N635K	probably benign	Het
Ccr2	T	C	9: 123,906,793 (GRCm39)	S358P	probably damaging	Het
Ccser2	T	C	14: 36,663,100 (GRCm39)	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,386,335 (GRCm39)	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,933,161 (GRCm39)	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,943 (GRCm39)	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,107,230 (GRCm39)	R304L	possibly damaging	Het
Dop1a	T	A	9: 86,394,912 (GRCm39)	M664K	probably damaging	Het
Emilin3	T	A	2: 160,750,741 (GRCm39)	E336V	probably damaging	Het
Eml5	A	G	12: 98,791,683 (GRCm39)	Y63H		Het
Fbxo41	G	T	6: 85,456,958 (GRCm39)	R404S	possibly damaging	Het
Gpr155	A	T	2: 73,197,835 (GRCm39)	Y456*	probably null	Het
Gpr156	T	A	16: 37,812,523 (GRCm39)	N286K	probably damaging	Het
Kcna5	A	G	6: 126,511,808 (GRCm39)	S107P	probably benign	Het
Kcne2	A	T	16: 92,093,710 (GRCm39)	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,648,025 (GRCm39)	M113L	probably benign	Het
Lad1	T	A	1: 135,755,513 (GRCm39)	L263Q	probably damaging	Het
Lctl	G	A	9: 64,034,249 (GRCm39)	G296D	probably damaging	Het
Lmtk3	A	T	7: 45,437,424 (GRCm39)	I205F	possibly damaging	Het
Magel2	G	T	7: 62,029,079 (GRCm39)	R661L	unknown	Het
Mcm10	G	A	2: 5,011,920 (GRCm39)	P180S	possibly damaging	Het
Mia3	G	T	1: 183,108,247 (GRCm39)	A446D		Het
N4bp2	G	A	5: 65,963,714 (GRCm39)	V588M	probably benign	Het
Naip6	C	T	13: 100,436,259 (GRCm39)	V755M	probably benign	Het
Neurl1a	T	C	19: 47,229,099 (GRCm39)	V213A	probably damaging	Het
Nrdc	A	G	4: 108,896,946 (GRCm39)	T522A	probably damaging	Het
Ntng1	T	C	3: 110,042,763 (GRCm39)	Q21R	probably damaging	Het
Nup160	T	C	2: 90,534,296 (GRCm39)	L707S	probably damaging	Het
Oas2	A	T	5: 120,876,587 (GRCm39)	V452D	probably damaging	Het
Or10a3n	A	G	7: 108,493,429 (GRCm39)	F67L	probably damaging	Het
Or1j1	A	G	2: 36,702,915 (GRCm39)	L63P	probably damaging	Het
Or1j4	A	T	2: 36,740,081 (GRCm39)	M8L	probably benign	Het
Or1n1	G	A	2: 36,749,680 (GRCm39)	R227*	probably null	Het
Or52s1	A	C	7: 102,861,516 (GRCm39)	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,914,327 (GRCm39)	T1405S		Het
Pnrc1	G	A	4: 33,248,300 (GRCm39)	P33L	probably damaging	Het
Prkag2	A	T	5: 25,085,684 (GRCm39)	V312E	possibly damaging	Het
Rsph10b	G	A	5: 143,904,038 (GRCm39)	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,205,807 (GRCm39)	N460S	probably benign	Het
Slco2b1	A	T	7: 99,339,764 (GRCm39)	C56S	possibly damaging	Het
Speer1f	G	A	5: 11,466,403 (GRCm39)	D7N	possibly damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Sult2a8	T	C	7: 14,147,640 (GRCm39)	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,724,315 (GRCm39)	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,934,278 (GRCm39)	M1313L	probably benign	Het
Tmc2	G	A	2: 130,038,497 (GRCm39)		probably null	Het
Tstd1	G	T	1: 171,247,523 (GRCm39)	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,638,567 (GRCm39)	D252G	probably benign	Het
Ulk2	T	C	11: 61,710,174 (GRCm39)	N345D	probably damaging	Het
Unc13c	T	C	9: 73,481,355 (GRCm39)	D1694G	probably benign	Het
Vill	T	C	9: 118,894,561 (GRCm39)	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,564,887 (GRCm39)	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,232,452 (GRCm39)	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,315,088 (GRCm39)	S263P	probably benign	Het
Zfp980	A	G	4: 145,428,714 (GRCm39)	D481G	probably benign	Het
Zmpste24	A	G	4: 120,952,778 (GRCm39)	S81P	probably damaging	Het
Znrf4	A	G	17: 56,819,169 (GRCm39)	V46A	probably benign	Het

Other mutations in Rps17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1340:Rps17	UTSW	7	80,993,481 (GRCm39)	critical splice donor site	probably null
R2268:Rps17	UTSW	7	80,994,746 (GRCm39)	missense	probably benign	0.00
R3710:Rps17	UTSW	7	80,994,672 (GRCm39)	missense	probably benign	0.00
R8210:Rps17	UTSW	7	80,994,750 (GRCm39)	missense	probably benign	0.01
R8966:Rps17	UTSW	7	80,994,660 (GRCm39)	missense	probably benign	0.00
R9233:Rps17	UTSW	7	80,993,497 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAAGGTCGGCTGATTACAGG -3'
(R):5'- GGGGTACATGACATTCGGAG -3'

Sequencing Primer
(F):5'- TGATTACAGGCACCCTCGG -3'
(R):5'- TGGACATCTGAACAGTGCTG -3'

Posted On

2019-09-13