Mutagenetix > Incidental Mutation

Incidental Mutation 'R6382:Rps15'

515381

Institutional Source

Beutler Lab

Gene Symbol

Rps15

Ensembl Gene

ENSMUSG00000063457

Gene Name

ribosomal protein S15

Synonyms

rat insulinoma gene, rig, insulinoma

MMRRC Submission

044531-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R6382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80128287-80129948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80129820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 115 (Y115C)

Ref Sequence

ENSEMBL: ENSMUSP00000069004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062674] [ENSMUST00000068408] [ENSMUST00000105359]

AlphaFold

P62843

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062674
AA Change: Y88C

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100997
Gene: ENSMUSG00000063457
AA Change: Y88C

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S19	20	101	5e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000068408
AA Change: Y115C

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

SMART Domains

Protein: ENSMUSP00000069004
Gene: ENSMUSG00000063457
AA Change: Y115C

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
Pfam:Ribosomal_S19	47	128	1.6e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105359

SMART Domains

Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:APC_N_CC	30	81	2.7e-34	PFAM
Pfam:Suppressor_APC	148	228	1.4e-27	PFAM
coiled coil region	238	260	N/A	INTRINSIC
low complexity region	266	285	N/A	INTRINSIC
ARM	324	379	2.95e0	SMART
ARM	446	497	2.22e-2	SMART
ARM	499	540	3.22e0	SMART
ARM	542	584	3.56e-1	SMART
ARM	586	631	2.1e1	SMART
ARM	636	676	1.82e-7	SMART
Blast:ARM	678	718	6e-18	BLAST
Pfam:Arm_APC_u3	719	977	1.1e-26	PFAM
low complexity region	1000	1009	N/A	INTRINSIC
low complexity region	1086	1098	N/A	INTRINSIC
low complexity region	1116	1132	N/A	INTRINSIC
Pfam:APC_crr	1164	1187	9.3e-8	PFAM
low complexity region	1226	1237	N/A	INTRINSIC
Pfam:APC_crr	1274	1297	7.9e-10	PFAM
Pfam:APC_crr	1399	1423	1.3e-9	PFAM
low complexity region	1529	1545	N/A	INTRINSIC
low complexity region	1585	1603	N/A	INTRINSIC
Pfam:SAMP	1624	1642	1.3e-11	PFAM
low complexity region	1702	1728	N/A	INTRINSIC
Pfam:APC_basic	1786	2122	1.3e-122	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.5%

Validation Efficiency

100% (55/55)

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 S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,418,850 (GRCm39)	M148K	probably benign	Het
Aldoc	T	C	11: 78,216,568 (GRCm39)	I242T	probably benign	Het
Camta2	T	C	11: 70,562,867 (GRCm39)	T927A	probably damaging	Het
Ccdc30	T	C	4: 119,261,363 (GRCm39)	R25G	possibly damaging	Het
Cdh16	T	A	8: 105,348,175 (GRCm39)	M181L	possibly damaging	Het
Clstn1	A	T	4: 149,710,577 (GRCm39)		probably null	Het
Cnot6l	C	A	5: 96,276,858 (GRCm39)	R110L	probably damaging	Het
Col7a1	G	A	9: 108,804,461 (GRCm39)	S2264N	unknown	Het
Cspp1	A	G	1: 10,153,700 (GRCm39)		probably null	Het
Cul1	T	A	6: 47,479,373 (GRCm39)	L213Q	probably damaging	Het
Cuta	T	C	17: 27,157,428 (GRCm39)	Q124R	probably benign	Het
Cyp1a1	T	A	9: 57,607,973 (GRCm39)	N200K	probably damaging	Het
Dag1	C	A	9: 108,085,336 (GRCm39)	A602S	possibly damaging	Het
Ftdc1	T	C	16: 58,434,273 (GRCm39)	E148G	possibly damaging	Het
Gm4707	G	A	17: 71,766,238 (GRCm39)		probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
H2-T23	T	C	17: 36,342,724 (GRCm39)	Y138C	probably damaging	Het
Hnf4a	A	T	2: 163,410,926 (GRCm39)	M408L	probably benign	Het
Hpse2	A	G	19: 43,376,641 (GRCm39)	L37P	possibly damaging	Het
Hsd17b6	A	T	10: 127,827,196 (GRCm39)	I292N	probably damaging	Het
Hsp90aa1	A	T	12: 110,661,951 (GRCm39)		probably null	Het
Ifit1bl1	T	A	19: 34,572,283 (GRCm39)	Y58F	probably benign	Het
Igkv10-95	A	G	6: 68,657,672 (GRCm39)	T43A	probably benign	Het
Igkv6-17	C	T	6: 70,348,814 (GRCm39)	Q62*	probably null	Het
Jakmip2	A	G	18: 43,704,244 (GRCm39)	S367P	possibly damaging	Het
Lrrc40	A	G	3: 157,764,333 (GRCm39)	D416G	probably damaging	Het
Mdm2	A	G	10: 117,528,626 (GRCm39)	V177A	probably benign	Het
Mpp1	TGAGACGAACTCTCCGAG	TGAG	X: 74,169,375 (GRCm39)		probably null	Het
Myo1b	C	T	1: 51,813,466 (GRCm39)		probably null	Het
Notch2	A	G	3: 98,048,859 (GRCm39)	D1799G	probably damaging	Het
Obscn	C	T	11: 58,890,239 (GRCm39)	G7431D	unknown	Het
Obscn	A	T	11: 58,933,034 (GRCm39)	C4781S	probably damaging	Het
Or2a14	T	A	6: 43,130,899 (GRCm39)	I220N	probably damaging	Het
Or7a35	C	A	10: 78,853,351 (GRCm39)	S65Y	probably damaging	Het
Pard3	T	A	8: 128,103,264 (GRCm39)	V411D	probably damaging	Het
Pfkl	T	C	10: 77,835,671 (GRCm39)	R246G	probably damaging	Het
Pgs1	T	C	11: 117,894,186 (GRCm39)	Y238H	probably damaging	Het
Pik3c2g	A	G	6: 139,665,724 (GRCm39)	E15G	possibly damaging	Het
Pja2	A	G	17: 64,616,610 (GRCm39)	V95A	probably benign	Het
Ripor2	T	C	13: 24,861,828 (GRCm39)	I207T	possibly damaging	Het
Shkbp1	C	A	7: 27,051,484 (GRCm39)	E192*	probably null	Het
Slc23a4	T	A	6: 34,933,978 (GRCm39)	M42L	probably benign	Het
Snx25	T	A	8: 46,509,028 (GRCm39)	S373C	probably benign	Het
Sppl2a	A	T	2: 126,758,949 (GRCm39)		probably null	Het
Tektl1	G	A	10: 78,588,675 (GRCm39)	T45I	possibly damaging	Het
Tpcn2	A	G	7: 144,823,486 (GRCm39)	S256P	possibly damaging	Het
Txk	C	T	5: 72,893,823 (GRCm39)		probably benign	Het
Ubr2	C	G	17: 47,268,241 (GRCm39)	W991S	possibly damaging	Het
Ufc1	A	G	1: 171,122,248 (GRCm39)	W28R	probably damaging	Het
Unc93b1	C	A	19: 3,985,297 (GRCm39)	A35E	probably benign	Het
Ush2a	A	G	1: 188,546,499 (GRCm39)	N3425S	probably benign	Het
Vmn1r32	A	G	6: 66,530,345 (GRCm39)	Y144H	probably benign	Het
Vmn1r76	A	G	7: 11,664,426 (GRCm39)	F228L	probably damaging	Het
Zfc3h1	A	G	10: 115,243,813 (GRCm39)	N715D	probably benign	Het
Zfp933	T	C	4: 147,910,325 (GRCm39)	S424G	probably benign	Het

Other mutations in Rps15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Rps15	APN	10	80,129,643 (GRCm39)	missense	probably benign	0.02
IGL02285:Rps15	APN	10	80,129,596 (GRCm39)	missense	probably benign	0.00
R3938:Rps15	UTSW	10	80,129,673 (GRCm39)	missense	probably benign	0.28
R6995:Rps15	UTSW	10	80,129,598 (GRCm39)	missense	possibly damaging	0.47
R8416:Rps15	UTSW	10	80,128,624 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCTGAGGGACATGATCATCC -3'
(R):5'- TGTGACAGCCACCCAAAAGG -3'

Sequencing Primer
(F):5'- ACATGATCATCCTGCCGGAGATG -3'
(R):5'- TCCAGGTTCCACACACAGGG -3'

Posted On

2018-05-04