Mutagenetix > Incidental Mutation

Incidental Mutation 'R3938:Rps15'

307288

Institutional Source

Beutler Lab

Gene Symbol

Rps15

Ensembl Gene

ENSMUSG00000063457

Gene Name

ribosomal protein S15

Synonyms

rat insulinoma gene, rig, insulinoma

MMRRC Submission

040825-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R3938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80128287-80129948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80129673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 96 (V96A)

Ref Sequence

ENSEMBL: ENSMUSP00000069004 (fasta)

Gene Model

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

AlphaFold

P62843

Predicted Effect

probably benign
Transcript: ENSMUST00000062674
AA Change: V69A

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100997
Gene: ENSMUSG00000063457
AA Change: V69A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000068408
AA Change: V96A

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069004
Gene: ENSMUSG00000063457
AA Change: V96A

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

Meta Mutation Damage Score

0.9068

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,361,513 (GRCm39)	N659I	probably benign	Het
BC049715	T	C	6: 136,817,453 (GRCm39)	I231T	possibly damaging	Het
Bmp4	T	C	14: 46,621,536 (GRCm39)	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,209,870 (GRCm39)	T293I	probably benign	Het
Chd5	A	T	4: 152,461,512 (GRCm39)	T1275S	probably benign	Het
Chtf8	A	T	8: 107,612,537 (GRCm39)	M134K	probably benign	Het
Col11a2	A	T	17: 34,258,599 (GRCm39)		probably benign	Het
Cyp8b1	A	G	9: 121,744,684 (GRCm39)	V216A	probably benign	Het
Dnah8	C	T	17: 31,073,911 (GRCm39)	T4527M	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Erap1	T	A	13: 74,816,147 (GRCm39)	L92Q	probably damaging	Het
Exoc3l	G	T	8: 106,020,037 (GRCm39)	P296H	probably damaging	Het
Fcgbpl1	C	T	7: 27,853,719 (GRCm39)	P1561L	probably damaging	Het
Foxl3	A	T	5: 138,806,723 (GRCm39)	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hrnr	T	A	3: 93,230,162 (GRCm39)	N133K	probably benign	Het
Itgax	G	T	7: 127,735,445 (GRCm39)	R504S	possibly damaging	Het
Itgb4	A	G	11: 115,896,752 (GRCm39)	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,735,838 (GRCm39)	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,596,983 (GRCm39)	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga1	G	T	17: 30,076,596 (GRCm39)	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,163,842 (GRCm39)	V466A	possibly damaging	Het
Myh6	T	C	14: 55,200,512 (GRCm39)	D203G	probably benign	Het
Myo5b	T	C	18: 74,849,108 (GRCm39)	S1116P	probably damaging	Het
Nemp1	T	C	10: 127,531,342 (GRCm39)	L311P	probably damaging	Het
Nup205	A	G	6: 35,196,677 (GRCm39)	R1138G	probably damaging	Het
Nup54	A	G	5: 92,565,388 (GRCm39)	M443T	probably damaging	Het
Peak1	T	C	9: 56,167,649 (GRCm39)	E93G	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plekhj1	A	G	10: 80,633,609 (GRCm39)	I76T	probably damaging	Het
Poll	A	G	19: 45,546,857 (GRCm39)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Pygm	A	T	19: 6,442,980 (GRCm39)	I556F	probably benign	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rcor3	G	T	1: 191,785,385 (GRCm39)	T361K	possibly damaging	Het
Robo4	A	G	9: 37,313,313 (GRCm39)		probably benign	Het
Rrm2	T	A	12: 24,759,431 (GRCm39)	N55K	probably damaging	Het
Shank2	T	C	7: 143,682,112 (GRCm39)	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,382,819 (GRCm39)	E3*	probably null	Het
Slc7a8	T	A	14: 54,973,298 (GRCm39)	E223V	probably benign	Het
Snx13	A	G	12: 35,194,096 (GRCm39)	K880E	probably benign	Het
Spinkl	T	G	18: 44,301,216 (GRCm39)	M41L	probably benign	Het
Srp54a	A	C	12: 55,136,042 (GRCm39)	N19T	probably benign	Het
Sun2	T	C	15: 79,618,356 (GRCm39)	K268E	probably benign	Het
Sytl1	G	A	4: 132,982,935 (GRCm39)	Q359*	probably null	Het
Tlr6	A	T	5: 65,110,938 (GRCm39)	F656L	probably damaging	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tmem45a2	C	T	16: 56,859,398 (GRCm39)	D278N	probably benign	Het
Trav7-1	T	C	14: 52,892,791 (GRCm39)		probably benign	Het
Trpc2	T	A	7: 101,742,781 (GRCm39)	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,779,882 (GRCm39)		probably benign	Het
Usp9y	C	T	Y: 1,313,741 (GRCm39)	M2188I	probably damaging	Het
Utrn	C	A	10: 12,625,774 (GRCm39)		probably null	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,524,390 (GRCm39)	Y59F	probably damaging	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
R6382:Rps15	UTSW	10	80,129,820 (GRCm39)	missense	probably damaging	0.96
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'- CTTCTCCCACAGTGAGCAAC -3'
(R):5'- TTATTGGCCTCGGCTACTTG -3'

Sequencing Primer
(F):5'- GCTCAAGCGCTTGAGAAA -3'
(R):5'- CGGCTACTTGAGGGGGATGAATC -3'

Posted On

2015-04-17