Mutagenetix > Incidental Mutation

Incidental Mutation 'R1834:Rps27a'

205077

Institutional Source

Beutler Lab

Gene Symbol

Rps27a

Ensembl Gene

ENSMUSG00000020460

Gene Name

ribosomal protein S27A

Synonyms

0610006J14Rik

MMRRC Submission

039861-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29495842-29498040 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29496299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 105 (Y105H)

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 benign
Transcript: ENSMUST00000102844
AA Change: Y105H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099908
Gene: ENSMUSG00000020460
AA Change: Y105H

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 benign
Transcript: ENSMUST00000102845
AA Change: Y105H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099909
Gene: ENSMUSG00000020460
AA Change: Y105H

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: ENSMUST00000147782

Predicted Effect

probably benign
Transcript: ENSMUST00000208530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150739

Meta Mutation Damage Score

0.1815

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

97% (116/119)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,313 (GRCm39)	D20G	probably damaging	Het
2310061N02Rik	T	A	16: 88,504,786 (GRCm39)	S4C	unknown	Het
Abca3	A	T	17: 24,595,666 (GRCm39)	N340Y	probably benign	Het
Abcc1	A	G	16: 14,240,981 (GRCm39)	I513V	possibly damaging	Het
Acacb	C	T	5: 114,373,536 (GRCm39)	T1855M	probably damaging	Het
Ace	A	G	11: 105,876,920 (GRCm39)		probably benign	Het
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adarb1	C	A	10: 77,153,065 (GRCm39)		probably benign	Het
Afm	T	A	5: 90,674,283 (GRCm39)	M265K	probably benign	Het
Agl	A	G	3: 116,582,000 (GRCm39)	F293S	probably benign	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Arhgap31	C	A	16: 38,424,065 (GRCm39)	S667I	probably benign	Het
Bco1	A	G	8: 117,844,176 (GRCm39)	T297A	probably benign	Het
Bmp1	T	C	14: 70,746,271 (GRCm39)	S123G	possibly damaging	Het
Caps2	G	A	10: 112,031,623 (GRCm39)	D283N	possibly damaging	Het
Ccdc57	A	C	11: 120,752,045 (GRCm39)	S845R	probably benign	Het
Cd209f	A	G	8: 4,154,491 (GRCm39)	S119P	probably damaging	Het
Chrna6	A	G	8: 27,897,242 (GRCm39)	S212P	probably benign	Het
Col10a1	G	C	10: 34,271,011 (GRCm39)	A328P	probably damaging	Het
Col4a2	A	G	8: 11,452,997 (GRCm39)	E188G	probably benign	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Cttnbp2	C	T	6: 18,501,965 (GRCm39)	V16M	probably damaging	Het
D430041D05Rik	A	G	2: 103,998,446 (GRCm39)	S1102P	probably damaging	Het
Ddx31	C	T	2: 28,782,465 (GRCm39)	H603Y	probably damaging	Het
Ddx52	G	A	11: 83,850,323 (GRCm39)	C568Y	probably benign	Het
Dgki	C	A	6: 37,011,636 (GRCm39)		probably benign	Het
Dmrt1	A	T	19: 25,487,063 (GRCm39)	Q123L	probably damaging	Het
Dnah5	A	T	15: 28,409,270 (GRCm39)	M3563L	probably benign	Het
Dnah7b	A	T	1: 46,272,919 (GRCm39)	N2349I	possibly damaging	Het
Dscaml1	T	G	9: 45,594,930 (GRCm39)	S678A	probably benign	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Ece1	A	G	4: 137,685,439 (GRCm39)	N643S	probably damaging	Het
Eno1b	A	G	18: 48,180,530 (GRCm39)	Y236C	probably damaging	Het
Esco1	T	C	18: 10,594,350 (GRCm39)	E312G	probably damaging	Het
Eya3	T	A	4: 132,434,429 (GRCm39)	V276E	probably damaging	Het
Fam161b	A	G	12: 84,395,552 (GRCm39)		probably benign	Het
Fem1c	C	T	18: 46,638,349 (GRCm39)	G551D	probably damaging	Het
Fer1l6	T	C	15: 58,429,718 (GRCm39)	I155T	possibly damaging	Het
Gbp7	A	G	3: 142,240,441 (GRCm39)	Y53C	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm10030	C	T	9: 110,833,947 (GRCm39)		noncoding transcript	Het
Gm3443	T	A	19: 21,533,043 (GRCm39)	H2Q	unknown	Het
Gm5800	T	C	14: 51,953,549 (GRCm39)	E22G	possibly damaging	Het
Gsdma2	G	T	11: 98,539,905 (GRCm39)	R9L	probably damaging	Het
Gvin3	A	T	7: 106,202,983 (GRCm39)	V87D	possibly damaging	Het
Ica1l	A	G	1: 60,067,395 (GRCm39)		probably benign	Het
Ice1	G	A	13: 70,763,457 (GRCm39)	T167I	probably damaging	Het
Ifi204	T	A	1: 173,575,172 (GRCm39)	R618S	unknown	Het
Itga2	C	A	13: 114,993,262 (GRCm39)	K784N	probably damaging	Het
Itga2	T	A	13: 114,993,263 (GRCm39)	K784M	probably damaging	Het
Kif3b	A	G	2: 153,159,405 (GRCm39)	E402G	probably benign	Het
Lrp2	T	C	2: 69,297,224 (GRCm39)	I3246V	probably benign	Het
Lrrn3	G	T	12: 41,503,517 (GRCm39)	L267I	probably damaging	Het
Map1s	A	G	8: 71,369,055 (GRCm39)	Y868C	probably damaging	Het
Mcm5	A	G	8: 75,845,901 (GRCm39)	T370A	possibly damaging	Het
Nat8f7	T	C	6: 85,684,793 (GRCm39)	S16G	probably benign	Het
Nav3	T	C	10: 109,555,883 (GRCm39)	T1683A	probably damaging	Het
Nbeal2	T	C	9: 110,456,197 (GRCm39)	N2417S	probably damaging	Het
Neb	T	C	2: 52,126,907 (GRCm39)	N3605S	probably damaging	Het
Net1	A	T	13: 3,962,941 (GRCm39)		probably benign	Het
Nsd1	A	G	13: 55,461,164 (GRCm39)	T2464A	possibly damaging	Het
Nt5e	T	A	9: 88,252,240 (GRCm39)	I534N	probably damaging	Het
Nudt12	T	A	17: 59,318,071 (GRCm39)	H58L	probably damaging	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or1a1	A	G	11: 74,086,479 (GRCm39)	H50R	probably benign	Het
Or2ag13	A	G	7: 106,473,348 (GRCm39)	Y35H	probably damaging	Het
Or5ae2	A	G	7: 84,505,690 (GRCm39)	T38A	probably damaging	Het
Or9k2b	A	G	10: 130,016,701 (GRCm39)	I16T	probably benign	Het
Pef1	C	A	4: 130,014,966 (GRCm39)	C10*	probably null	Het
Phf21b	A	G	15: 84,681,547 (GRCm39)	Y256H	probably damaging	Het
Phox2a	G	T	7: 101,470,152 (GRCm39)		probably null	Het
Pi16	A	G	17: 29,546,419 (GRCm39)	E399G	possibly damaging	Het
Pipox	A	T	11: 77,772,949 (GRCm39)	Y321N	probably damaging	Het
Plin4	A	G	17: 56,410,522 (GRCm39)	S1170P	probably damaging	Het
Pnma2	C	T	14: 67,154,662 (GRCm39)	S362L	possibly damaging	Het
Ppp1r9a	T	C	6: 5,113,710 (GRCm39)	I738T	probably damaging	Het
Prkcsh	A	T	9: 21,919,634 (GRCm39)	K188M	probably damaging	Het
Rcc1l	A	T	5: 134,192,498 (GRCm39)	Y309N	probably damaging	Het
Ripk1	A	G	13: 34,199,196 (GRCm39)	T123A	probably benign	Het
Robo4	A	G	9: 37,324,355 (GRCm39)	D961G	probably benign	Het
Scaper	A	G	9: 55,724,018 (GRCm39)	Y641H	possibly damaging	Het
Scn1a	C	A	2: 66,154,960 (GRCm39)	Q666H	probably benign	Het
Scn1a	T	A	2: 66,154,961 (GRCm39)	Q666L	probably benign	Het
Sdhaf4	T	C	1: 24,042,234 (GRCm39)		probably null	Het
Sec14l3	A	G	11: 4,016,510 (GRCm39)		probably benign	Het
Selp	C	A	1: 163,955,729 (GRCm39)		probably null	Het
Sim1	A	G	10: 50,785,924 (GRCm39)	D259G	probably damaging	Het
Sptan1	T	A	2: 29,882,013 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,066,071 (GRCm39)	E679V	probably null	Het
Sytl3	G	A	17: 6,995,726 (GRCm39)	E169K	probably benign	Het
Taar1	T	C	10: 23,797,087 (GRCm39)	C262R	probably benign	Het
Taf7l2	T	C	10: 115,948,570 (GRCm39)	R319G	probably benign	Het
Tbc1d32	A	G	10: 55,893,700 (GRCm39)	I1291T	probably benign	Het
Tet1	G	A	10: 62,649,444 (GRCm39)	P89S	probably damaging	Het
Tgfbrap1	C	A	1: 43,110,795 (GRCm39)	G7W	probably damaging	Het
Thada	A	G	17: 84,533,432 (GRCm39)	V1673A	possibly damaging	Het
Thbs4	A	G	13: 92,897,989 (GRCm39)	V610A	probably benign	Het
Tmem163	A	G	1: 127,605,246 (GRCm39)	S41P	probably benign	Het
Tmem65	A	T	15: 58,658,962 (GRCm39)	H200Q	probably damaging	Het
Trgc3	A	G	13: 19,447,535 (GRCm39)	T163A	possibly damaging	Het
Trim62	T	C	4: 128,803,018 (GRCm39)	V356A	possibly damaging	Het
Ttn	T	C	2: 76,562,502 (GRCm39)	D28781G	probably damaging	Het
Ttn	C	T	2: 76,593,604 (GRCm39)	V20679I	probably benign	Het
Tut7	A	T	13: 59,962,749 (GRCm39)	Y339*	probably null	Het
Unc80	A	T	1: 66,678,407 (GRCm39)	T2063S	possibly damaging	Het
Vav3	A	G	3: 109,413,742 (GRCm39)	T227A	probably benign	Het
Vmn2r118	A	T	17: 55,899,456 (GRCm39)	I816N	probably damaging	Het
Vmn2r26	T	A	6: 124,038,369 (GRCm39)	M648K	possibly damaging	Het
Vmn2r88	T	G	14: 51,650,487 (GRCm39)		probably benign	Het
Vwa3a	A	G	7: 120,389,359 (GRCm39)	T66A	probably benign	Het
Xirp2	T	A	2: 67,341,484 (GRCm39)	Y1242N	probably damaging	Het
Ywhag	G	A	5: 135,940,384 (GRCm39)	T70M	probably damaging	Het
Zfp248	T	C	6: 118,405,931 (GRCm39)	T452A	probably damaging	Het
Zfp988	A	T	4: 147,417,344 (GRCm39)	I593F	probably damaging	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
IGL02189:Rps27a	APN	11	29,496,772 (GRCm39)	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- TCAAGCTATTGATCTCACAGTACC -3'
(R):5'- TTCCTAGTGCTGGAGTGACAG -3'

Sequencing Primer
(F):5'- GATCTCACAGTACCAATTTTTAGTGG -3'
(R):5'- CCCAACTTTTTGACAGGCTGGAG -3'

Posted On

2014-06-23