Mutagenetix > Incidental Mutation

Incidental Mutation 'R5717:Rps25'

451219

Institutional Source

Beutler Lab

Gene Symbol

Rps25

Ensembl Gene

ENSMUSG00000009927

Gene Name

ribosomal protein S25

Synonyms

2810009D21Rik

MMRRC Submission

043337-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R5717 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

44319011-44321703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44320047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 23 (Y23C)

Ref Sequence

ENSEMBL: ENSMUSP00000148977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034623] [ENSMUST00000053286] [ENSMUST00000080300] [ENSMUST00000213813] [ENSMUST00000216076] [ENSMUST00000216867] [ENSMUST00000214702] [ENSMUST00000217163] [ENSMUST00000214494] [ENSMUST00000217084] [ENSMUST00000216572] [ENSMUST00000217351] [ENSMUST00000217270]

AlphaFold

P62852

Predicted Effect

probably benign
Transcript: ENSMUST00000034623

SMART Domains

Protein: ENSMUSP00000034623
Gene: ENSMUSG00000032112

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	209	2.7e-63	PFAM
Pfam:Sedlin_N	90	207	2.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053286

SMART Domains

Protein: ENSMUSP00000053216
Gene: ENSMUSG00000043923

Domain	Start	End	E-Value	Type
Pfam:CCDC84	6	323	2.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080300
AA Change: Y55C

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000079180
Gene: ENSMUSG00000009927
AA Change: Y55C

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S25	4	112	6.2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213747

Predicted Effect

probably benign
Transcript: ENSMUST00000213813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214370

Predicted Effect

probably benign
Transcript: ENSMUST00000216076
AA Change: Y23C

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000216867
AA Change: Y55C

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215610

Predicted Effect

probably benign
Transcript: ENSMUST00000214748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216134

Predicted Effect

probably benign
Transcript: ENSMUST00000214702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215111

Predicted Effect

probably benign
Transcript: ENSMUST00000217163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215072

Predicted Effect

probably benign
Transcript: ENSMUST00000214494

Predicted Effect

probably benign
Transcript: ENSMUST00000217084

Predicted Effect

probably benign
Transcript: ENSMUST00000216572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217224

Predicted Effect

probably benign
Transcript: ENSMUST00000217351

Predicted Effect

probably benign
Transcript: ENSMUST00000217270

Meta Mutation Damage Score

0.7676

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (48/49)

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 4 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 S25E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	A	T	19: 42,041,484 (GRCm39)	H205L	probably benign	Het
Acss2	T	C	2: 155,403,073 (GRCm39)	L617S	probably damaging	Het
Adgrl4	T	C	3: 151,197,971 (GRCm39)	V77A	probably benign	Het
Adnp2	A	G	18: 80,171,479 (GRCm39)	S977P	probably benign	Het
Ankrd11	T	C	8: 123,619,377 (GRCm39)	K1492E	possibly damaging	Het
B4galt5	G	A	2: 167,148,549 (GRCm39)	R190C	probably damaging	Het
Bbs1	A	G	19: 4,947,354 (GRCm39)	V355A	possibly damaging	Het
Cenpj	GTTTT	GTTTTT	14: 56,790,978 (GRCm39)		probably null	Het
Ckap2	T	C	8: 22,665,063 (GRCm39)	E467G	probably damaging	Het
Cry1	A	T	10: 84,982,280 (GRCm39)	H355Q	probably damaging	Het
Cspg4	G	T	9: 56,793,082 (GRCm39)	M272I	probably benign	Het
Dicer1	T	A	12: 104,671,387 (GRCm39)	Y961F	probably damaging	Het
Epha2	A	T	4: 141,049,382 (GRCm39)	M689L	probably benign	Het
Foxc1	C	T	13: 31,991,471 (GRCm39)	A94V	probably benign	Het
Fras1	T	C	5: 96,929,596 (GRCm39)	V4000A	possibly damaging	Het
Frmd8	G	T	19: 5,923,396 (GRCm39)		probably benign	Het
Gm5218	A	G	15: 81,383,478 (GRCm39)		noncoding transcript	Het
Gm7735	T	C	16: 88,966,430 (GRCm39)	L18P	unknown	Het
Hr	C	T	14: 70,803,616 (GRCm39)	T808I	probably benign	Het
Hyal6	T	C	6: 24,743,690 (GRCm39)	M462T	probably benign	Het
Igkv6-20	T	A	6: 70,313,412 (GRCm39)		probably benign	Het
Igkv8-27	T	A	6: 70,148,918 (GRCm39)	T59S	probably benign	Het
Itga11	A	G	9: 62,659,531 (GRCm39)	T428A	probably benign	Het
Klk1b16	A	G	7: 43,788,913 (GRCm39)	I49V	probably benign	Het
Matn2	G	T	15: 34,399,237 (GRCm39)	E375*	probably null	Het
Msgn1	T	C	12: 11,258,519 (GRCm39)	Y144C	probably damaging	Het
Myh1	A	G	11: 67,099,782 (GRCm39)	N564S	probably benign	Het
Mypn	A	G	10: 62,963,555 (GRCm39)	V972A	probably damaging	Het
Or4c29	T	C	2: 88,740,366 (GRCm39)	I124V	possibly damaging	Het
Or5an11	A	G	19: 12,246,520 (GRCm39)	K309E	probably benign	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Ppp2r5d	A	G	17: 46,998,820 (GRCm39)	S81P	probably damaging	Het
Ptgis	C	T	2: 167,050,284 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,018 (GRCm39)	N25S	probably benign	Het
Rnf123	G	A	9: 107,944,623 (GRCm39)	T456I	probably damaging	Het
Rpl6l	T	C	10: 110,961,884 (GRCm39)		noncoding transcript	Het
Sec24a	A	G	11: 51,598,037 (GRCm39)	V879A	probably benign	Het
Sema6a	G	A	18: 47,382,330 (GRCm39)	A739V	probably benign	Het
Senp6	A	T	9: 79,999,594 (GRCm39)	I4F	probably damaging	Het
Slc49a4	A	G	16: 35,539,799 (GRCm39)	F341L	probably benign	Het
Stoml3	A	T	3: 53,412,937 (GRCm39)	Q197L	probably damaging	Het
Ttn	T	A	2: 76,578,091 (GRCm39)	K24267N	probably damaging	Het
Vmn1r43	T	C	6: 89,846,905 (GRCm39)	S194G	probably damaging	Het
Vmn2r17	C	T	5: 109,575,140 (GRCm39)	T149I	possibly damaging	Het
Wdr72	T	A	9: 74,055,487 (GRCm39)	Y239N	probably damaging	Het
Zfp423	A	T	8: 88,413,187 (GRCm39)		probably null	Het
Zfp759	T	A	13: 67,286,772 (GRCm39)	C114S	probably damaging	Het

Other mutations in Rps25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1955:Rps25	UTSW	9	44,321,305 (GRCm39)	missense	probably benign	0.45
R4766:Rps25	UTSW	9	44,320,046 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- CAAGAAGTCTCTAATTTCCCTGAGATG -3'
(R):5'- TTCAAGGACTGCAAAGGAATGC -3'

Sequencing Primer
(F):5'- TCCCTGAGATGATCGTGACAG -3'
(R):5'- GGAAGTCAGTCTATCCTTCATAAGTC -3'

Posted On

2017-01-03