Mutagenetix > Incidental Mutation

Incidental Mutation 'R0964:Rps15a'

81479

Institutional Source

Beutler Lab

Gene Symbol

Rps15a

Ensembl Gene

ENSMUSG00000008683

Gene Name

ribosomal protein S15A

Synonyms

A630031B11Rik

MMRRC Submission

039093-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117703597-117715370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117714060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 54 (D54G)

Ref Sequence

ENSEMBL: ENSMUSP00000114544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032888] [ENSMUST00000106588] [ENSMUST00000106590] [ENSMUST00000128482] [ENSMUST00000131374] [ENSMUST00000131840] [ENSMUST00000172457]

AlphaFold

P62245

Predicted Effect

probably benign
Transcript: ENSMUST00000032888

SMART Domains

Protein: ENSMUSP00000032888
Gene: ENSMUSG00000030654

Domain	Start	End	E-Value	Type
transmembrane domain	42	61	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
transmembrane domain	136	153	N/A	INTRINSIC
transmembrane domain	158	180	N/A	INTRINSIC
low complexity region	192	203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106588
AA Change: D54G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000102198
Gene: ENSMUSG00000008683
AA Change: D54G

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S8	5	130	1.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106590
AA Change: D54G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102200
Gene: ENSMUSG00000008683
AA Change: D54G

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S8	5	108	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128482
AA Change: D54G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114544
Gene: ENSMUSG00000008683
AA Change: D54G

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S8	5	68	9.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131374
AA Change: D54G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000119975
Gene: ENSMUSG00000008683
AA Change: D54G

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S8	5	130	1.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131840
AA Change: D54G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000116061
Gene: ENSMUSG00000008683
AA Change: D54G

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S8	5	67	1.1e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134270

Predicted Effect

probably benign
Transcript: ENSMUST00000172457
AA Change: D54G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000127791
Gene: ENSMUSG00000008683
AA Change: D54G

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S8	5	130	6.3e-36	PFAM

Meta Mutation Damage Score

0.6494

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 96.9%
20x: 94.0%

Validation Efficiency

98% (55/56)

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 S8P 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acacb	A	T	5: 114,367,813 (GRCm39)	M1604L	possibly damaging	Het
Acp3	A	G	9: 104,204,174 (GRCm39)	V40A	possibly damaging	Het
Adgrl1	T	C	8: 84,661,041 (GRCm39)		probably benign	Het
Alppl2	C	T	1: 87,015,446 (GRCm39)	V372I	possibly damaging	Het
Apol8	C	T	15: 77,633,811 (GRCm39)	S255N	probably benign	Het
Atp8b4	A	T	2: 126,179,413 (GRCm39)	F973I	probably damaging	Het
Bbs4	A	G	9: 59,230,259 (GRCm39)	*150Q	probably null	Het
Bltp3a	A	T	17: 28,106,152 (GRCm39)	T893S	probably damaging	Het
Cacna1h	A	T	17: 25,597,749 (GRCm39)		probably benign	Het
Ccn1	C	A	3: 145,353,503 (GRCm39)	C353F	probably damaging	Het
Ccser2	C	T	14: 36,630,965 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,741,832 (GRCm39)	E1607G	probably benign	Het
Clca4b	A	G	3: 144,621,337 (GRCm39)	I579T	probably benign	Het
Col20a1	T	A	2: 180,626,278 (GRCm39)		probably benign	Het
Creg2	T	C	1: 39,664,144 (GRCm39)	I205V	probably benign	Het
Ddx24	C	T	12: 103,390,166 (GRCm39)	R275H	probably damaging	Het
Dip2c	G	A	13: 9,618,699 (GRCm39)	A579T	probably benign	Het
Dnah3	T	C	7: 119,551,962 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,892,894 (GRCm39)		probably null	Het
Gckr	T	C	5: 31,484,259 (GRCm39)		probably benign	Het
Gpbp1l1	A	G	4: 116,438,436 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,281,523 (GRCm39)	T1913A	probably benign	Het
Lmo7	T	C	14: 102,158,003 (GRCm39)		probably benign	Het
Meioc	G	A	11: 102,570,857 (GRCm39)	V863I	probably damaging	Het
Myh1	A	G	11: 67,112,430 (GRCm39)	D1799G	probably damaging	Het
Myh1	A	G	11: 67,096,751 (GRCm39)	I341V	probably benign	Het
Myh13	A	G	11: 67,235,828 (GRCm39)	T664A	probably benign	Het
Myo3b	A	C	2: 70,257,193 (GRCm39)	D1269A	probably damaging	Het
Nckap1	A	G	2: 80,378,243 (GRCm39)		probably null	Het
Nr3c2	A	G	8: 77,635,297 (GRCm39)		probably null	Het
Nxpe5	T	C	5: 138,238,186 (GRCm39)	S249P	probably damaging	Het
Or52z1	C	T	7: 103,436,604 (GRCm39)	M293I	probably benign	Het
Or8k16	A	G	2: 85,520,709 (GRCm39)	N312S	probably benign	Het
Or9a4	T	C	6: 40,549,139 (GRCm39)	V273A	probably benign	Het
Pitpnm3	G	A	11: 71,949,296 (GRCm39)	T675I	probably damaging	Het
Plekhm1	C	A	11: 103,285,908 (GRCm39)	E176*	probably null	Het
Prdm11	C	A	2: 92,819,567 (GRCm39)		probably benign	Het
Prodh2	C	A	7: 30,205,706 (GRCm39)	R218S	probably damaging	Het
Sbno2	G	T	10: 79,920,093 (GRCm39)	T46N	possibly damaging	Het
Sdk2	A	G	11: 113,697,243 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,926,907 (GRCm39)	F567L	probably damaging	Het
Slc36a1	A	G	11: 55,116,780 (GRCm39)		probably benign	Het
Spaca6	A	T	17: 18,058,653 (GRCm39)	E284V	possibly damaging	Het
Srsf3	C	A	17: 29,255,412 (GRCm39)	L66I	probably damaging	Het
Srsf3	T	A	17: 29,255,413 (GRCm39)	L66Q	probably damaging	Het
Syne1	T	C	10: 4,993,652 (GRCm39)	T8363A	possibly damaging	Het
Trmt1	T	A	8: 85,423,481 (GRCm39)	L298Q	probably damaging	Het
Uba6	T	C	5: 86,267,260 (GRCm39)	I923V	possibly damaging	Het
Vmn2r106	G	A	17: 20,487,859 (GRCm39)	H847Y	probably benign	Het
Vmn2r15	T	C	5: 109,445,401 (GRCm39)	T8A	probably benign	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb41	T	G	1: 139,366,769 (GRCm39)	F583V	probably damaging	Het
Zfp938	T	A	10: 82,061,253 (GRCm39)	I456F	probably benign	Het

Other mutations in Rps15a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7210:Rps15a	UTSW	7	117,708,334 (GRCm39)	missense	probably benign	0.07
R9676:Rps15a	UTSW	7	117,714,361 (GRCm39)	missense	probably benign	0.02
R9746:Rps15a	UTSW	7	117,709,220 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGCAGTTTCCCACTCCAGCGTTAC -3'
(R):5'- ATGTTCTGGCGGATGCTCTCAAG -3'

Sequencing Primer
(F):5'- ACTCCAGCGTTACCAGAGTTTAG -3'
(R):5'- CAGGCCATGTTCTAAAGTCATCG -3'

Posted On

2013-11-07