Mutagenetix > Incidental Mutation

Incidental Mutation 'R1972:Rpl13a'

221077

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

039985-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R1972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44774987-44778169 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 44775419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 368 (K368*)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000124300
AA Change: K408I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122044
Gene: ENSMUSG00000074129
AA Change: K408I

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 null
Transcript: ENSMUST00000152970
AA Change: K368*

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150350
AA Change: K188I

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115722
Gene: ENSMUSG00000074129
AA Change: K188I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209711
AA Change: K116I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209467
AA Change: K431I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209927
AA Change: K162I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000209812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209340

Predicted Effect

probably benign
Transcript: ENSMUST00000209838

Predicted Effect

probably benign
Transcript: ENSMUST00000209212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209965

Predicted Effect

probably benign
Transcript: ENSMUST00000209815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198528

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210931
AA Change: K54I

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211037
AA Change: K118I

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210832

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211494

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211583

Predicted Effect

probably benign
Transcript: ENSMUST00000210918

Predicted Effect

probably benign
Transcript: ENSMUST00000210191

Predicted Effect

probably benign
Transcript: ENSMUST00000211725

Predicted Effect

probably benign
Transcript: ENSMUST00000210967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210175

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (77/77)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,717,050 (GRCm39)		probably benign	Het
Bbs2	A	G	8: 94,807,805 (GRCm39)		probably benign	Het
Bcl9	A	C	3: 97,114,518 (GRCm39)	D1035E	probably damaging	Het
Bmpr2	A	G	1: 59,852,762 (GRCm39)	E31G	possibly damaging	Het
Borcs5	A	G	6: 134,687,137 (GRCm39)	D164G	probably damaging	Het
Cap2	A	G	13: 46,791,375 (GRCm39)	R181G	probably damaging	Het
Ccdc113	A	T	8: 96,264,874 (GRCm39)	H128L	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chat	C	T	14: 32,146,148 (GRCm39)	V342I	probably benign	Het
Chrm4	C	T	2: 91,757,838 (GRCm39)	A82V	probably benign	Het
Cyp2d22	A	T	15: 82,260,028 (GRCm39)	M52K	probably benign	Het
Dennd2c	T	C	3: 103,039,014 (GRCm39)	V54A	probably benign	Het
Dgka	C	T	10: 128,556,335 (GRCm39)	G717D	probably damaging	Het
Dnah1	C	T	14: 30,987,348 (GRCm39)	W3550*	probably null	Het
Eif2ak1	A	G	5: 143,821,532 (GRCm39)	T283A	probably benign	Het
Entrep2	A	T	7: 64,425,516 (GRCm39)	I192N	possibly damaging	Het
Fcgbp	A	T	7: 27,793,617 (GRCm39)	Y1173F	probably benign	Het
Flt1	G	A	5: 147,591,903 (GRCm39)		probably benign	Het
Gpr149	T	C	3: 62,438,216 (GRCm39)	K647R	probably benign	Het
Gsdma2	T	C	11: 98,541,744 (GRCm39)	V157A	probably benign	Het
Heatr4	T	A	12: 84,001,794 (GRCm39)	I884F	probably damaging	Het
Ift56	C	A	6: 38,387,738 (GRCm39)	N396K	probably benign	Het
Il17ra	A	G	6: 120,459,177 (GRCm39)	E776G	probably benign	Het
Inpp5d	T	C	1: 87,604,036 (GRCm39)	S235P	probably benign	Het
Iqgap3	T	A	3: 87,991,235 (GRCm39)		probably null	Het
Isoc2a	T	A	7: 4,895,086 (GRCm39)	D171E	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,104,560 (GRCm39)	D108G	possibly damaging	Het
Klra9	A	T	6: 130,159,345 (GRCm39)		probably null	Het
Lgmn	A	G	12: 102,362,080 (GRCm39)		probably benign	Het
Morf4l1	A	T	9: 89,977,267 (GRCm39)		probably benign	Het
Mthfr	T	C	4: 148,136,384 (GRCm39)	I380T	probably damaging	Het
Mybpc1	T	C	10: 88,387,404 (GRCm39)	I436V	probably benign	Het
Naip5	A	G	13: 100,349,278 (GRCm39)	V1350A	probably damaging	Het
Neil2	A	T	14: 63,423,526 (GRCm39)	C36S	possibly damaging	Het
Nlrx1	A	G	9: 44,164,753 (GRCm39)	V897A	probably benign	Het
Nod2	A	T	8: 89,379,501 (GRCm39)	M8L	probably damaging	Het
Nop2	A	G	6: 125,111,602 (GRCm39)	T112A	probably benign	Het
Nrap	T	A	19: 56,345,785 (GRCm39)	T608S	probably damaging	Het
Nuak2	A	T	1: 132,258,340 (GRCm39)	H257L	probably damaging	Het
Or10x1	T	C	1: 174,197,136 (GRCm39)	F218L	probably benign	Het
Or2ag12	T	C	7: 106,277,426 (GRCm39)	D89G	probably benign	Het
Or4c113	A	T	2: 88,884,891 (GRCm39)	M293K	probably benign	Het
Or52e8	T	C	7: 104,625,106 (GRCm39)	I33V	possibly damaging	Het
Or5ac25	A	T	16: 59,182,476 (GRCm39)	V35D	probably damaging	Het
Or5b119	T	C	19: 13,457,058 (GRCm39)	N168S	probably benign	Het
Or8b40	T	A	9: 38,027,863 (GRCm39)	M257K	possibly damaging	Het
Pde1a	T	C	2: 79,696,065 (GRCm39)	E358G	probably damaging	Het
Pdlim1	A	T	19: 40,211,581 (GRCm39)	S237R	probably damaging	Het
Pithd1	T	C	4: 135,714,340 (GRCm39)	D36G	probably damaging	Het
Ppp2r3d	A	G	9: 101,088,976 (GRCm39)	F449S	probably benign	Het
Prr11	G	A	11: 86,989,580 (GRCm39)	R264C	possibly damaging	Het
Rbm43	A	T	2: 51,815,548 (GRCm39)	H224Q	probably benign	Het
Rfx5	C	T	3: 94,864,603 (GRCm39)	L250F	probably damaging	Het
Rgs22	T	A	15: 36,103,982 (GRCm39)	I160L	probably benign	Het
Rorb	T	A	19: 18,929,567 (GRCm39)	Q393H	probably damaging	Het
Scaf8	T	G	17: 3,219,646 (GRCm39)	S276R	unknown	Het
Scube2	A	T	7: 109,408,421 (GRCm39)	N675K	probably benign	Het
Sec22c	A	T	9: 121,517,320 (GRCm39)	M126K	possibly damaging	Het
Serpinb11	T	C	1: 107,297,210 (GRCm39)	F29L	probably damaging	Het
Sis	A	G	3: 72,828,337 (GRCm39)	F1217S	probably damaging	Het
Slc18a2	A	G	19: 59,263,085 (GRCm39)	D294G	possibly damaging	Het
Slc9c1	A	G	16: 45,413,835 (GRCm39)	T988A	possibly damaging	Het
Smndc1	A	C	19: 53,371,986 (GRCm39)		probably null	Het
Sned1	G	A	1: 93,192,795 (GRCm39)	G361S	probably damaging	Het
Spatc1	A	T	15: 76,169,075 (GRCm39)		probably null	Het
Stab2	A	T	10: 86,796,180 (GRCm39)	C356S	probably damaging	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tbc1d30	A	T	10: 121,142,135 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,681,626 (GRCm39)	E2668G	probably damaging	Het
Tigar	A	G	6: 127,064,889 (GRCm39)	V253A	possibly damaging	Het
Tmc2	T	A	2: 130,056,584 (GRCm39)		probably benign	Het
Ugt1a10	A	T	1: 87,983,769 (GRCm39)	Y189F	probably damaging	Het
Vmn2r82	A	G	10: 79,214,680 (GRCm39)	D221G	probably damaging	Het
Xkr5	C	T	8: 18,991,997 (GRCm39)	V131M	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
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

Predicted Primers

PCR Primer
(F):5'- TCAACTGATTCATCCCATGGTTTG -3'
(R):5'- AGCCACTCTGGAGGAGAAAC -3'

Sequencing Primer
(F):5'- GTGCGCTGTCAGCTCTCTAATG -3'
(R):5'- CCACTCTGGAGGAGAAACGGAAG -3'

Posted On

2014-08-25