Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00088:Rpl13a'

1494

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpl13a

Ensembl Gene

ENSMUSG00000074129

Gene Name

ribosomal protein L13A

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL00088

Quality Score

Status

Chromosome

Chromosomal Location

44774987-44778169 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 44776495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003521] [ENSMUST00000150350] [ENSMUST00000209815] [ENSMUST00000209212] [ENSMUST00000209927] [ENSMUST00000209467] [ENSMUST00000209812] [ENSMUST00000209711] [ENSMUST00000209238] [ENSMUST00000146760] [ENSMUST00000210918] [ENSMUST00000210191] [ENSMUST00000210967] [ENSMUST00000211037] [ENSMUST00000211725] [ENSMUST00000211429] [ENSMUST00000210818] [ENSMUST00000210931]

AlphaFold

P19253

Predicted Effect

probably null
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: ENSMUST00000083694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083944

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124300
AA Change: R279L

PolyPhen 2 Score 0.590 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122044
Gene: ENSMUSG00000074129
AA Change: R279L

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: ENSMUST00000150350
AA Change: R59L

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115722
Gene: ENSMUSG00000074129
AA Change: R59L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209815
AA Change: R55L

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209212
AA Change: R55L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209927
AA Change: R33L

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209467
AA Change: R302L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

silent
Transcript: ENSMUST00000209812

Predicted Effect

probably benign
Transcript: ENSMUST00000209711

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198528

Predicted Effect

probably null
Transcript: ENSMUST00000209838

Predicted Effect

probably benign
Transcript: ENSMUST00000209238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209340

Predicted Effect

probably benign
Transcript: ENSMUST00000146760

SMART Domains

Protein: ENSMUSP00000123506
Gene: ENSMUSG00000110206

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Flt3_lig	28	162	1.9e-94	PFAM
transmembrane domain	189	211	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210918
AA Change: R59L

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210191
AA Change: R59L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210967
AA Change: R59L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211037
AA Change: R55L

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably null
Transcript: ENSMUST00000211725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211503

Predicted Effect

probably benign
Transcript: ENSMUST00000211429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211438

Predicted Effect

probably benign
Transcript: ENSMUST00000210818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211542

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211583

Predicted Effect

probably benign
Transcript: ENSMUST00000210931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210792

Coding Region Coverage

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 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	A	G	18: 36,798,512 (GRCm39)		probably benign	Het
Anpep	A	G	7: 79,475,484 (GRCm39)	V879A	possibly damaging	Het
Asb13	T	G	13: 3,693,476 (GRCm39)	V78G	probably null	Het
Atad2b	A	G	12: 5,074,593 (GRCm39)	R1051G	probably damaging	Het
Bdp1	T	C	13: 100,235,018 (GRCm39)	Y192C	probably damaging	Het
C1ql2	G	T	1: 120,269,399 (GRCm39)	G185C	probably damaging	Het
Catsperg2	A	G	7: 29,404,829 (GRCm39)	S745P	possibly damaging	Het
Col19a1	A	T	1: 24,600,387 (GRCm39)	S52T	unknown	Het
Col4a2	G	T	8: 11,493,685 (GRCm39)	G1418V	probably damaging	Het
Crnkl1	C	T	2: 145,760,388 (GRCm39)	D677N	possibly damaging	Het
Cyp2j8	T	A	4: 96,392,079 (GRCm39)	N125I	probably benign	Het
Cyp2t4	A	T	7: 26,854,723 (GRCm39)	M68L	probably benign	Het
Dclk2	T	A	3: 86,706,397 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,308,988 (GRCm39)	D1921G	probably benign	Het
Dnah10	G	A	5: 124,905,667 (GRCm39)	G4104S	probably damaging	Het
Echdc2	T	C	4: 108,036,108 (GRCm39)	I273T	probably damaging	Het
Extl1	T	C	4: 134,085,330 (GRCm39)	K596E	probably damaging	Het
Fads3	A	T	19: 10,029,663 (GRCm39)	D108V	probably null	Het
Fam135b	A	G	15: 71,322,343 (GRCm39)	L1274P	probably damaging	Het
Fat1	T	A	8: 45,477,639 (GRCm39)	H2228Q	possibly damaging	Het
Gcc2	C	T	10: 58,128,502 (GRCm39)	H1341Y	probably damaging	Het
Gls2	A	G	10: 128,036,840 (GRCm39)		probably null	Het
Gpr137	A	C	19: 6,917,072 (GRCm39)	V139G	probably damaging	Het
Ikbke	A	G	1: 131,197,749 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,655,636 (GRCm39)	N285Y	probably benign	Het
Kcnu1	G	A	8: 26,387,884 (GRCm39)	C566Y	probably benign	Het
Klhl29	G	A	12: 5,190,705 (GRCm39)	P97S	probably benign	Het
Lama4	T	C	10: 38,941,591 (GRCm39)		probably benign	Het
Lhx6	G	A	2: 35,981,728 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,723,651 (GRCm39)	L2529P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Naa15	T	A	3: 51,345,826 (GRCm39)	V19D	probably damaging	Het
Ncbp3	A	T	11: 72,964,355 (GRCm39)		probably benign	Het
Nckipsd	G	A	9: 108,692,168 (GRCm39)	V530I	probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Nnmt	A	T	9: 48,503,224 (GRCm39)		probably benign	Het
Nup58	T	A	14: 60,480,026 (GRCm39)	I207L	probably benign	Het
Or14j2	A	T	17: 37,885,808 (GRCm39)	C169S	probably damaging	Het
Or5ae1	T	A	7: 84,565,578 (GRCm39)	M197K	probably damaging	Het
Or5k16	C	T	16: 58,736,213 (GRCm39)	E264K	probably benign	Het
Otud4	T	A	8: 80,399,510 (GRCm39)	N741K	probably damaging	Het
Pard6a	T	A	8: 106,429,833 (GRCm39)	C264S	probably benign	Het
Plch2	T	C	4: 155,091,099 (GRCm39)	N276S	probably damaging	Het
Pramel31	T	A	4: 144,089,100 (GRCm39)	H139Q	possibly damaging	Het
Pramel32	T	A	4: 88,547,307 (GRCm39)	K121N	probably benign	Het
Racgap1	T	C	15: 99,534,003 (GRCm39)		probably benign	Het
Rad51d	T	C	11: 82,780,572 (GRCm39)	D70G	probably damaging	Het
Recql4	C	T	15: 76,591,536 (GRCm39)	A484T	possibly damaging	Het
Reg3g	A	T	6: 78,443,762 (GRCm39)	S149T	probably benign	Het
Scn10a	T	C	9: 119,501,292 (GRCm39)	Y164C	probably damaging	Het
Scn2a	A	G	2: 65,594,784 (GRCm39)	I1878V	probably benign	Het
Sgcg	T	A	14: 61,477,796 (GRCm39)	R98*	probably null	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tas2r140	A	T	6: 40,468,274 (GRCm39)	I35F	probably benign	Het
Tex19.2	A	G	11: 121,007,638 (GRCm39)	F270S	possibly damaging	Het
Traip	C	T	9: 107,847,749 (GRCm39)	R391W	probably benign	Het
Trim7	A	G	11: 48,736,398 (GRCm39)	N251D	probably damaging	Het
Trmt2a	T	A	16: 18,067,351 (GRCm39)	V8D	probably benign	Het
Tut7	T	C	13: 59,964,512 (GRCm39)	E221G	probably damaging	Het
Ubr3	A	C	2: 69,819,154 (GRCm39)	I9L	probably benign	Het
Usp42	A	G	5: 143,702,897 (GRCm39)	S575P	probably benign	Het
Vmn2r52	G	T	7: 9,903,023 (GRCm39)	H468Q	probably benign	Het
Vmn2r59	T	A	7: 41,661,488 (GRCm39)	T776S	possibly damaging	Het

Other mutations in Rpl13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1972:Rpl13a	UTSW	7	44,775,419 (GRCm39)	nonsense	probably null
R1973:Rpl13a	UTSW	7	44,775,419 (GRCm39)	nonsense	probably null
R4501:Rpl13a	UTSW	7	44,775,564 (GRCm39)	missense	probably benign	0.13
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

Posted On

2011-07-12