Mutagenetix > Incidental Mutation

Incidental Mutation 'R4501:Rpl13a'

331811

Institutional Source

Beutler Lab

Gene Symbol

Rpl13a

Ensembl Gene

ENSMUSG00000074129

Gene Name

ribosomal protein L13A

Synonyms

tum-antigen, Tstap198-7, 1810026N22Rik, tum-transplantation antigen P198

MMRRC Submission

041753-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R4501 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44774987-44778169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44775564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 95 (H95R)

Ref Sequence

ENSEMBL: ENSMUSP00000147909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003521] [ENSMUST00000150350] [ENSMUST00000209711] [ENSMUST00000209467] [ENSMUST00000209815] [ENSMUST00000209212] [ENSMUST00000209812] [ENSMUST00000209927] [ENSMUST00000210931] [ENSMUST00000210191] [ENSMUST00000210918] [ENSMUST00000210967] [ENSMUST00000211037] [ENSMUST00000211725]

AlphaFold

P19253

Predicted Effect

probably benign
Transcript: ENSMUST00000003521

SMART Domains

Protein: ENSMUSP00000003521
Gene: ENSMUSG00000003429

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S17_N	5	73	1.9e-40	PFAM
Pfam:Ribosomal_S17	75	144	1.4e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125074
AA Change: T227A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152970
AA Change: T347A

Predicted Effect

probably benign
Transcript: ENSMUST00000150350
AA Change: H167R

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

SMART Domains

Protein: ENSMUSP00000115722
Gene: ENSMUSG00000074129
AA Change: H167R

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L13	6	122	7e-27	PFAM
low complexity region	169	180	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125936
AA Change: H110R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142239
AA Change: H144R

Predicted Effect

probably benign
Transcript: ENSMUST00000124300
AA Change: H387R

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122044
Gene: ENSMUSG00000074129
AA Change: H387R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Flt3_lig	30	162	3.8e-65	PFAM
transmembrane domain	189	211	N/A	INTRINSIC
Pfam:Ribosomal_L13	226	338	1e-10	PFAM
low complexity region	389	400	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209711
AA Change: H95R

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000209467
AA Change: H410R

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209340

Predicted Effect

probably benign
Transcript: ENSMUST00000209815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209626

Predicted Effect

probably benign
Transcript: ENSMUST00000209212

Predicted Effect

probably benign
Transcript: ENSMUST00000209812

Predicted Effect

probably benign
Transcript: ENSMUST00000209927
AA Change: H141R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210175

Predicted Effect

probably benign
Transcript: ENSMUST00000210191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209967

Predicted Effect

probably benign
Transcript: ENSMUST00000210918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211438

Predicted Effect

probably benign
Transcript: ENSMUST00000210967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210832

Predicted Effect

probably benign
Transcript: ENSMUST00000211037

Predicted Effect

probably benign
Transcript: ENSMUST00000211725

Predicted Effect

probably benign
Transcript: ENSMUST00000209838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211583

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (37/37)

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 member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The encoded protein also plays a role in the repression of inflammatory genes as a component of the IFN-gamma-activated inhibitor of translation (GAIT) complex. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygotes lacking snoRNAs encoded by introns of this gene show altered mitochondrial metabolism, lower reactive oxygen species tone, enhanced glucose-stimulated insulin secretion and glucose tolerance, reduced oxidative stress responses in pancreatic islets, and resistance to diabetogenic stimuli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	G	14: 54,924,044 (GRCm39)	V65A	probably damaging	Het
Ankrd28	A	G	14: 31,428,753 (GRCm39)	L956S	probably damaging	Het
Atp2a1	G	A	7: 126,052,555 (GRCm39)	T388I	probably benign	Het
AU018091	A	G	7: 3,208,919 (GRCm39)	V389A	probably benign	Het
Cdh2	A	G	18: 16,762,642 (GRCm39)	V434A	possibly damaging	Het
Dennd4a	G	A	9: 64,817,405 (GRCm39)	D1680N	possibly damaging	Het
Dnah2	T	A	11: 69,368,485 (GRCm39)	M1717L	probably benign	Het
Dusp6	T	A	10: 99,100,457 (GRCm39)	L151Q	probably benign	Het
Hc	A	T	2: 34,887,488 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,509,417 (GRCm39)	S3644T	probably damaging	Het
Kcnt2	T	C	1: 140,480,718 (GRCm39)	I761T	probably damaging	Het
Mmd2	A	G	5: 142,560,965 (GRCm39)	V90A	probably benign	Het
Ncf2	C	G	1: 152,710,784 (GRCm39)	Q432E	probably benign	Het
Nxn	T	C	11: 76,165,438 (GRCm39)	E172G	probably damaging	Het
P2ry12	A	G	3: 59,125,078 (GRCm39)	I199T	probably damaging	Het
Phldb3	A	G	7: 24,311,986 (GRCm39)	E100G	probably benign	Het
Pidd1	A	G	7: 141,021,356 (GRCm39)		probably benign	Het
Pldi	G	T	10: 60,764,188 (GRCm39)		noncoding transcript	Het
Plk5	T	C	10: 80,195,305 (GRCm39)	C208R	probably benign	Het
Ptpn12	G	T	5: 21,224,278 (GRCm39)	A105E	probably damaging	Het
Pusl1	T	C	4: 155,973,999 (GRCm39)	T252A	probably benign	Het
Sh3d21	GAATCTCCTGGGAAAATC	GAATC	4: 126,056,652 (GRCm39)		probably null	Het
Slc30a4	A	G	2: 122,527,136 (GRCm39)	I370T	probably benign	Het
Taf1c	A	G	8: 120,326,168 (GRCm39)	F565L	probably damaging	Het
Tdrd9	A	G	12: 112,009,243 (GRCm39)	K1050E	probably benign	Het
Tnrc6c	T	A	11: 117,613,324 (GRCm39)	L494Q	probably damaging	Het
Ttn	T	A	2: 76,624,991 (GRCm39)	I13450L	possibly damaging	Het
Usp34	C	A	11: 23,351,529 (GRCm39)	P1439Q	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn1r80	A	G	7: 11,927,318 (GRCm39)	N143D	probably benign	Het
Zbtb44	G	A	9: 30,965,462 (GRCm39)	V291I	probably damaging	Het

Other mutations in Rpl13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Rpl13a	APN	7	44,776,495 (GRCm39)	splice site	probably null
R1972:Rpl13a	UTSW	7	44,775,419 (GRCm39)	nonsense	probably null
R1973:Rpl13a	UTSW	7	44,775,419 (GRCm39)	nonsense	probably null
R4674:Rpl13a	UTSW	7	44,776,242 (GRCm39)	unclassified	probably benign
R4675:Rpl13a	UTSW	7	44,776,242 (GRCm39)	unclassified	probably benign
R5151:Rpl13a	UTSW	7	44,775,385 (GRCm39)	missense	probably benign	0.35
R7565:Rpl13a	UTSW	7	44,776,466 (GRCm39)	missense	probably benign	0.05
R7667:Rpl13a	UTSW	7	44,775,597 (GRCm39)	missense	probably damaging	0.96
R7699:Rpl13a	UTSW	7	44,776,660 (GRCm39)	missense	probably benign	0.12
R7700:Rpl13a	UTSW	7	44,776,660 (GRCm39)	missense	probably benign	0.12
R8492:Rpl13a	UTSW	7	44,775,945 (GRCm39)	missense	possibly damaging	0.75
R9225:Rpl13a	UTSW	7	44,775,628 (GRCm39)	missense	probably damaging	1.00
R9225:Rpl13a	UTSW	7	44,775,627 (GRCm39)	missense	probably damaging	1.00
R9711:Rpl13a	UTSW	7	44,776,673 (GRCm39)	missense	probably benign	0.00
Z1088:Rpl13a	UTSW	7	44,776,937 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACCTCTGTGAACTTGCAG -3'
(R):5'- CCAAAGGCTAAGCTGATGCCAG -3'

Sequencing Primer
(F):5'- GGACCTCTGTGAACTTGCAGATTTTC -3'
(R):5'- ATGAGTCCTTGAAATAGGGTCCC -3'

Posted On

2015-07-21