Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02189:Rps27a'

283772

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rps27a

Ensembl Gene

ENSMUSG00000020460

Gene Name

ribosomal protein S27A

Synonyms

0610006J14Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL02189

Quality Score

Status

Chromosome

Chromosomal Location

29495842-29498040 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29496772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 40 (Q40H)

Ref Sequence

ENSEMBL: ENSMUSP00000099909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020749] [ENSMUST00000020753] [ENSMUST00000093239] [ENSMUST00000102844] [ENSMUST00000102845] [ENSMUST00000208530]

AlphaFold

P62983

Predicted Effect

probably benign
Transcript: ENSMUST00000020749

SMART Domains

Protein: ENSMUSP00000020749
Gene: ENSMUSG00000020459

Domain	Start	End	E-Value	Type
Pfam:SRPRB	178	310	2.1e-6	PFAM
Pfam:GTP_EFTU	179	344	8.9e-34	PFAM
Pfam:MMR_HSR1	182	289	6.9e-10	PFAM
coiled coil region	449	484	N/A	INTRINSIC
Pfam:IF-2	504	607	6.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020753

SMART Domains

Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461

Domain	Start	End	E-Value	Type
Pfam:TSNAXIP1_N	28	152	2.6e-26	PFAM
Pfam:Clathrin_H_link	302	365	3.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093239

SMART Domains

Protein: ENSMUSP00000090926
Gene: ENSMUSG00000020459

Domain	Start	End	E-Value	Type
Pfam:SRPRB	178	310	2.1e-6	PFAM
Pfam:GTP_EFTU	179	344	8.9e-34	PFAM
Pfam:MMR_HSR1	182	289	6.9e-10	PFAM
coiled coil region	449	484	N/A	INTRINSIC
Pfam:IF-2	504	607	6.5e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102844
AA Change: Q40H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099908
Gene: ENSMUSG00000020460
AA Change: Q40H

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Pfam:Ribosomal_S27	101	147	9.1e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102845
AA Change: Q40H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099909
Gene: ENSMUSG00000020460
AA Change: Q40H

Domain	Start	End	E-Value	Type
UBQ	1	72	2.14e-36	SMART
Pfam:Ribosomal_S27	102	147	1.4e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147782

Predicted Effect

probably benign
Transcript: ENSMUST00000208530

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	T	11: 48,838,248 (GRCm39)	Y780N	probably benign	Het
Aadacl2	T	C	3: 59,932,609 (GRCm39)	S375P	probably damaging	Het
Abi1	A	C	2: 22,930,076 (GRCm39)	M1R	probably null	Het
Acss1	T	C	2: 150,471,788 (GRCm39)	D322G	probably damaging	Het
Adam22	G	A	5: 8,380,029 (GRCm39)	R90W	possibly damaging	Het
Agtpbp1	T	C	13: 59,648,275 (GRCm39)	H515R	probably benign	Het
C3	T	C	17: 57,527,113 (GRCm39)	K779E	probably benign	Het
Cfhr2	A	G	1: 139,749,497 (GRCm39)	Y162H	probably damaging	Het
Chchd5	T	C	2: 128,975,188 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 16,321,620 (GRCm39)	I493F	probably damaging	Het
Daam1	A	T	12: 71,993,059 (GRCm39)	R349S	unknown	Het
Dnah11	T	C	12: 118,046,314 (GRCm39)	E1708G	probably benign	Het
Epg5	A	G	18: 78,056,085 (GRCm39)	D1753G	probably damaging	Het
Flt4	T	G	11: 49,516,830 (GRCm39)	C206G	probably damaging	Het
Fscn1	G	T	5: 142,946,375 (GRCm39)	A58S	possibly damaging	Het
Gapvd1	A	T	2: 34,618,556 (GRCm39)	N272K	probably damaging	Het
Gem	T	A	4: 11,706,121 (GRCm39)	S70T	possibly damaging	Het
H2-K2	A	G	17: 34,218,466 (GRCm39)	L150P	probably damaging	Het
Hsd3b3	T	A	3: 98,649,454 (GRCm39)	I290L	probably benign	Het
Iws1	A	G	18: 32,226,178 (GRCm39)	R689G	probably damaging	Het
Klk1b22	A	G	7: 43,765,630 (GRCm39)		probably null	Het
Klra4	T	A	6: 130,021,105 (GRCm39)	D230V	possibly damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Liat1	A	G	11: 75,891,056 (GRCm39)	K57E	probably damaging	Het
Lilra5	A	T	7: 4,240,968 (GRCm39)	M21L	probably benign	Het
Lrrc20	T	A	10: 61,362,887 (GRCm39)	V44D	possibly damaging	Het
Mtx1	T	G	3: 89,116,624 (GRCm39)	M426L	probably damaging	Het
Mylk2	C	T	2: 152,757,074 (GRCm39)	P283L	probably damaging	Het
Mynn	T	A	3: 30,667,693 (GRCm39)		probably benign	Het
Odr4	G	T	1: 150,247,784 (GRCm39)	N356K	possibly damaging	Het
Or4c1	A	C	2: 89,133,641 (GRCm39)	C98W	probably damaging	Het
Parl	T	A	16: 20,116,453 (GRCm39)	I116F	probably damaging	Het
Pdlim3	T	C	8: 46,338,630 (GRCm39)	V5A	probably damaging	Het
Pld1	G	A	3: 28,174,932 (GRCm39)	V857I	probably benign	Het
Ptprf	T	A	4: 118,070,839 (GRCm39)		probably benign	Het
Ptprn	A	G	1: 75,235,139 (GRCm39)	S170P	possibly damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Ryr3	A	T	2: 112,585,183 (GRCm39)		probably benign	Het
Scube3	G	T	17: 28,381,970 (GRCm39)	C332F	probably benign	Het
Sh3glb2	T	C	2: 30,235,351 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,123,693 (GRCm39)	E818G	probably benign	Het
Slc16a3	G	A	11: 120,847,597 (GRCm39)	V262I	probably benign	Het
Sptbn1	T	A	11: 30,067,871 (GRCm39)	D1781V	probably damaging	Het
Ssr1	C	T	13: 38,171,492 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,064,283 (GRCm39)	L2442S	probably benign	Het
Tonsl	A	T	15: 76,507,378 (GRCm39)	V94D	possibly damaging	Het
Ttc22	A	T	4: 106,496,354 (GRCm39)	H468L	probably benign	Het
Ttc27	C	T	17: 75,036,894 (GRCm39)	T189M	probably damaging	Het
Ttn	T	C	2: 76,720,500 (GRCm39)		probably benign	Het
Ttn	T	G	2: 76,590,239 (GRCm39)	I21157L	probably damaging	Het
Vav3	T	A	3: 109,433,276 (GRCm39)		probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Rps27a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Rps27a	APN	11	29,496,353 (GRCm39)	missense	probably benign	0.03
R1834:Rps27a	UTSW	11	29,496,299 (GRCm39)	missense	probably benign	0.01
R1964:Rps27a	UTSW	11	29,497,229 (GRCm39)	missense	probably null	0.80
R4290:Rps27a	UTSW	11	29,495,933 (GRCm39)	missense	probably benign	0.08
R6027:Rps27a	UTSW	11	29,497,808 (GRCm39)	unclassified	probably benign
R8490:Rps27a	UTSW	11	29,496,719 (GRCm39)	missense	probably benign	0.05
R8680:Rps27a	UTSW	11	29,495,998 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16