Mutagenetix > Incidental Mutation

Incidental Mutation 'R1340:Rps17'

156998

Institutional Source

Beutler Lab

Gene Symbol

Rps17

Ensembl Gene

ENSMUSG00000061787

Gene Name

ribosomal protein S17

Synonyms

MMRRC Submission

039405-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R1340 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80992481-80994982 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 80993481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000079628 (fasta)

Gene Model

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

AlphaFold

P63276

Predicted Effect

probably null
Transcript: ENSMUST00000080813

SMART Domains

Protein: ENSMUSP00000079628
Gene: ENSMUSG00000061787

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

noncoding transcript
Transcript: ENSMUST00000130487

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208054

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

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.9%

Validation Efficiency

100% (52/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,628,581 (GRCm39)		probably benign	Het
Acat3	C	T	17: 13,148,564 (GRCm39)		probably benign	Het
Actn1	T	C	12: 80,219,918 (GRCm39)		probably null	Het
Adam8	G	A	7: 139,571,290 (GRCm39)	S38F	probably damaging	Het
Aldh9a1	T	G	1: 167,184,913 (GRCm39)	I275S	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Alms1	G	A	6: 85,644,939 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,113,695 (GRCm39)	N1289S	probably benign	Het
Cacna1d	A	G	14: 29,794,024 (GRCm39)	V1539A	probably damaging	Het
Cacna1e	A	G	1: 154,348,403 (GRCm39)	L724P	probably damaging	Het
Ccdc110	A	G	8: 46,395,218 (GRCm39)	T370A	probably benign	Het
Ccdc9	G	A	7: 16,009,315 (GRCm39)		probably benign	Het
Cep120	A	T	18: 53,857,463 (GRCm39)	V334E	probably damaging	Het
Ces3a	C	T	8: 105,784,545 (GRCm39)	P462L	probably damaging	Het
Cgref1	A	G	5: 31,102,690 (GRCm39)		probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Csrnp3	T	A	2: 65,832,740 (GRCm39)	F81Y	probably damaging	Het
Ddr2	T	C	1: 169,825,653 (GRCm39)	T316A	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Epb41l5	A	T	1: 119,476,861 (GRCm39)	*740R	probably null	Het
Gfpt2	A	G	11: 49,723,688 (GRCm39)	K559E	probably damaging	Het
Gm2381	A	G	7: 42,469,828 (GRCm39)	Y99H	possibly damaging	Het
Gsdma2	T	C	11: 98,548,475 (GRCm39)	V242A	probably damaging	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrriq4	A	C	3: 30,704,472 (GRCm39)	T167P	possibly damaging	Het
Mtarc2	T	C	1: 184,554,744 (GRCm39)	T254A	probably benign	Het
Naip2	G	A	13: 100,325,630 (GRCm39)	L93F	possibly damaging	Het
Nefh	G	GNNNNNNNNNNNNNNNNNN	11: 4,891,002 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,160,836 (GRCm39)	S321P	probably damaging	Het
Nt5c1b	T	C	12: 10,427,276 (GRCm39)	V342A	probably damaging	Het
Nt5c3	A	G	6: 56,860,018 (GRCm39)	M273T	probably benign	Het
Or12j2	A	G	7: 139,916,038 (GRCm39)	T88A	probably benign	Het
Or1l4b	T	G	2: 37,036,769 (GRCm39)	L182V	probably benign	Het
Or6b1	G	A	6: 42,814,943 (GRCm39)	V43M	probably benign	Het
Polr3f	A	G	2: 144,380,548 (GRCm39)	H297R	probably benign	Het
Ptgs2	T	G	1: 149,981,228 (GRCm39)	F504V	probably damaging	Het
Ptpro	C	T	6: 137,418,079 (GRCm39)	P142L	possibly damaging	Het
Ryr1	A	G	7: 28,815,437 (GRCm39)	S132P	probably damaging	Het
Sacs	T	C	14: 61,441,958 (GRCm39)	S1335P	probably damaging	Het
Senp6	T	C	9: 80,029,305 (GRCm39)	V383A	possibly damaging	Het
Skint7	T	C	4: 111,837,416 (GRCm39)	F65L	probably damaging	Het
Slc35f1	T	C	10: 52,965,550 (GRCm39)	Y322H	probably damaging	Het
Slc38a4	C	A	15: 96,908,153 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox15	T	A	11: 69,546,373 (GRCm39)	S59T	probably damaging	Het
Srcap	T	A	7: 127,159,910 (GRCm39)		probably benign	Het
Txlnb	A	T	10: 17,718,488 (GRCm39)	I440F	probably damaging	Het
Vmn1r178	A	G	7: 23,593,281 (GRCm39)	S37G	probably benign	Het
Vmn2r75	T	C	7: 85,797,798 (GRCm39)	T672A	probably damaging	Het
Wscd1	T	C	11: 71,659,586 (GRCm39)	V222A	probably benign	Het

Other mutations in Rps17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7353:Rps17	UTSW	7	80,994,093 (GRCm39)	missense	possibly damaging	0.91
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'- TCAACTGTGACTAGCCCGACTACTG -3'
(R):5'- AGCTTGACATCCAAGTGTGAACCC -3'

Sequencing Primer
(F):5'- CCGACTACTGTAGAAATAACCAGGG -3'
(R):5'- tcagcatttgggaggcag -3'

Posted On

2014-02-11