Mutagenetix > Incidental Mutation

Incidental Mutation 'R9676:Rps15a'

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Institutional Source

Beutler Lab

Gene Symbol

Rps15a

Ensembl Gene

ENSMUSG00000008683

Gene Name

ribosomal protein S15A

Synonyms

A630031B11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R9676 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117703597-117715370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117714361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 35 (V35D)

Ref Sequence

ENSEMBL: ENSMUSP00000119975 (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: V35D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102198
Gene: ENSMUSG00000008683
AA Change: V35D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106590
AA Change: V35D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102200
Gene: ENSMUSG00000008683
AA Change: V35D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128482
AA Change: V35D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114544
Gene: ENSMUSG00000008683
AA Change: V35D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131374
AA Change: V35D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000119975
Gene: ENSMUSG00000008683
AA Change: V35D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131840
AA Change: V35D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000116061
Gene: ENSMUSG00000008683
AA Change: V35D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172457
AA Change: V35D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000127791
Gene: ENSMUSG00000008683
AA Change: V35D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,207,905 (GRCm39)	S534P	possibly damaging	Het
Abcb1a	A	T	5: 8,714,548 (GRCm39)	K23I	possibly damaging	Het
Arhgef1	G	A	7: 24,625,501 (GRCm39)	G961E	probably benign	Het
Cand2	A	G	6: 115,769,122 (GRCm39)	D644G	probably benign	Het
Ciart	A	G	3: 95,786,214 (GRCm39)	V287A	probably benign	Het
Cldn10	G	T	14: 119,025,677 (GRCm39)	V37L	probably damaging	Het
Clec16a	C	A	16: 10,559,823 (GRCm39)	T1032K	probably benign	Het
Crhbp	A	T	13: 95,578,711 (GRCm39)	Y144N	probably damaging	Het
Ddn	A	T	15: 98,703,252 (GRCm39)	I680N	possibly damaging	Het
Dock4	TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC	TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC	12: 40,894,379 (GRCm39)		probably benign	Het
Dock4	CCGGTG	CCGGTGACGGTG	12: 40,894,401 (GRCm39)		probably benign	Het
Dock4	GGTGCC	GGTGCCTGTGCC	12: 40,894,397 (GRCm39)		probably benign	Het
Dock4	TGCCGG	TGCCGGGGCCGG	12: 40,894,387 (GRCm39)		probably benign	Het
Dock7	T	C	4: 98,904,922 (GRCm39)	Y651C	probably damaging	Het
Ecel1	A	T	1: 87,079,743 (GRCm39)	F457I	probably damaging	Het
Eif4h	G	A	5: 134,668,242 (GRCm39)		probably benign	Het
Focad	T	C	4: 88,273,682 (GRCm39)	V1073A	unknown	Het
Gm9195	G	A	14: 72,709,667 (GRCm39)	P482S	unknown	Het
Ifi206	G	A	1: 173,308,718 (GRCm39)	T426I		Het
Irag2	T	G	6: 145,120,338 (GRCm39)	W518G	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lpar3	T	C	3: 145,990,434 (GRCm39)	C251R	probably damaging	Het
Lrrn4cl	A	G	19: 8,829,496 (GRCm39)	D158G	probably benign	Het
Myo5b	T	A	18: 74,892,231 (GRCm39)	N1632K	probably benign	Het
Neb	T	C	2: 52,060,558 (GRCm39)	K6275E	possibly damaging	Het
Niban2	G	A	2: 32,802,581 (GRCm39)	V191I	probably benign	Het
Or1j10	A	G	2: 36,266,848 (GRCm39)	E20G	probably benign	Het
Or2t47	T	A	11: 58,442,253 (GRCm39)	M271L	probably benign	Het
Or4a70	A	T	2: 89,323,780 (GRCm39)	M292K	probably damaging	Het
Phactr3	G	T	2: 177,925,837 (GRCm39)	E371*	probably null	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Plagl1	T	C	10: 13,003,955 (GRCm39)	Y408H	unknown	Het
Pole	A	G	5: 110,443,431 (GRCm39)	Q385R	probably benign	Het
Sh3rf2	C	T	18: 42,282,860 (GRCm39)	P505S	probably benign	Het
Srrm4	T	C	5: 116,584,781 (GRCm39)		probably benign	Het
Tenm4	G	T	7: 96,544,638 (GRCm39)	R2255L	probably damaging	Het
Ttc29	A	G	8: 79,060,384 (GRCm39)	T435A	probably benign	Het
Vmn2r79	T	C	7: 86,686,452 (GRCm39)	V611A	probably damaging	Het
Zfp568	T	C	7: 29,721,823 (GRCm39)	V256A	probably benign	Het
Zfyve26	T	C	12: 79,330,959 (GRCm39)	K420R	probably benign	Het

Other mutations in Rps15a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0964:Rps15a	UTSW	7	117,714,060 (GRCm39)	missense	probably benign	0.08
R7210:Rps15a	UTSW	7	117,708,334 (GRCm39)	missense	probably benign	0.07
R9746:Rps15a	UTSW	7	117,709,220 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTCATCTGAGTCTCTGCATCAG -3'
(R):5'- TGCTGAACAGTCGGGAAATTG -3'

Sequencing Primer
(F):5'- TGAGTCTCTGCATCAGAATTCTG -3'
(R):5'- TGTTGCTTAGACCTAGGAAAAGC -3'

Posted On

2022-10-06