Mutagenetix > Incidental Mutation

Incidental Mutation 'R8492:Rpl13a'

658046

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

067934-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R8492 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44774987-44778169 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44775945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 48 (V48A)

Ref Sequence

ENSEMBL: ENSMUSP00000147909 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000150350
AA Change: V120A

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

SMART Domains

Protein: ENSMUSP00000115722
Gene: ENSMUSG00000074129
AA Change: V120A

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

Predicted Effect

silent
Transcript: ENSMUST00000209212

Predicted Effect

probably benign
Transcript: ENSMUST00000209238

Predicted Effect

probably benign
Transcript: ENSMUST00000209467
AA Change: V363A

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209711
AA Change: V48A

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000209812

Predicted Effect

probably benign
Transcript: ENSMUST00000209815
AA Change: V127A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000209838

Predicted Effect

probably benign
Transcript: ENSMUST00000209927
AA Change: V94A

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

silent
Transcript: ENSMUST00000210191

Predicted Effect

probably benign
Transcript: ENSMUST00000210818

Predicted Effect

probably benign
Transcript: ENSMUST00000210918

Predicted Effect

probably benign
Transcript: ENSMUST00000210931
AA Change: V6A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000210967
AA Change: V120A

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000211037

Predicted Effect

probably benign
Transcript: ENSMUST00000211429

Predicted Effect

probably benign
Transcript: ENSMUST00000211725

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	A	10: 29,094,243 (GRCm39)	R43K	possibly damaging	Het
Abcc2	A	T	19: 43,793,410 (GRCm39)	Y354F	probably benign	Het
Aloxe3	A	T	11: 69,017,301 (GRCm39)	T25S	possibly damaging	Het
Als2	T	C	1: 59,250,503 (GRCm39)	K414E	probably damaging	Het
Ankmy2	A	T	12: 36,226,590 (GRCm39)	I95F	probably damaging	Het
Ankrd35	T	G	3: 96,589,529 (GRCm39)		probably null	Het
Ap3b1	A	G	13: 94,531,294 (GRCm39)	N91S	possibly damaging	Het
Apip	T	A	2: 102,922,866 (GRCm39)	L228H	probably damaging	Het
Arhgap23	A	G	11: 97,365,847 (GRCm39)	Y488C	probably damaging	Het
Asah2	G	A	19: 31,983,659 (GRCm39)	T595M	probably benign	Het
Ccdc174	G	C	6: 91,865,138 (GRCm39)	R132T	probably benign	Het
Ccng2	A	C	5: 93,419,313 (GRCm39)	H233P	probably damaging	Het
Cemip	A	G	7: 83,622,422 (GRCm39)	F586L	probably damaging	Het
Cenpf	A	G	1: 189,390,926 (GRCm39)	S969P	probably damaging	Het
Cep170b	G	A	12: 112,711,134 (GRCm39)	D1505N	probably damaging	Het
Colec12	T	A	18: 9,876,980 (GRCm39)		probably null	Het
Cytip	A	G	2: 58,027,869 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,167,525 (GRCm39)	S1026T	probably damaging	Het
Disc1	T	A	8: 125,817,177 (GRCm39)	D372E	probably damaging	Het
Dlgap2	A	T	8: 14,828,271 (GRCm39)	M560L	possibly damaging	Het
Dync2li1	C	A	17: 84,957,134 (GRCm39)		probably null	Het
Eif3c	C	T	7: 126,162,282 (GRCm39)	G180D	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
G6pc2	A	G	2: 69,050,586 (GRCm39)	I70M	probably damaging	Het
Gm5145	A	T	17: 20,790,681 (GRCm39)	I20F	probably damaging	Het
Hba-x	T	A	11: 32,227,921 (GRCm39)	F128L	probably benign	Het
Hspb1	G	A	5: 135,918,222 (GRCm39)	E190K	possibly damaging	Het
Ift122	T	A	6: 115,863,966 (GRCm39)	S246T	probably benign	Het
Inppl1	A	T	7: 101,475,985 (GRCm39)	S828T	probably damaging	Het
Krt84	C	A	15: 101,438,051 (GRCm39)	Q301H	probably damaging	Het
Malrd1	T	G	2: 15,614,934 (GRCm39)	S250A		Het
Mettl21e	A	G	1: 44,245,553 (GRCm39)	I231T	probably damaging	Het
Miip	T	C	4: 147,945,881 (GRCm39)	D341G	probably damaging	Het
Ncoa1	T	C	12: 4,313,473 (GRCm39)	D1287G	probably damaging	Het
Ndufb5	T	G	3: 32,805,377 (GRCm39)		probably null	Het
Neb	T	C	2: 52,203,224 (GRCm39)	E309G	probably damaging	Het
Nf1	T	A	11: 79,299,248 (GRCm39)	F199I	probably benign	Het
Or12k7	T	A	2: 36,958,695 (GRCm39)	I126N	probably damaging	Het
Pcdhgc3	T	A	18: 37,940,347 (GRCm39)	Y249*	probably null	Het
Plekhg3	G	T	12: 76,622,790 (GRCm39)	V677L	probably benign	Het
Ppm1f	T	C	16: 16,733,042 (GRCm39)	Y25H	probably damaging	Het
Prok2	A	T	6: 99,691,437 (GRCm39)	H75Q	probably benign	Het
Ralgapa2	A	T	2: 146,184,524 (GRCm39)	H1494Q	possibly damaging	Het
Rapgef6	T	G	11: 54,581,063 (GRCm39)	I1277S	probably damaging	Het
Rhob	G	T	12: 8,549,531 (GRCm39)	Y34*	probably null	Het
Rnf141	T	G	7: 110,436,407 (GRCm39)	D7A	probably benign	Het
Robo1	T	C	16: 72,809,911 (GRCm39)	S1220P	probably benign	Het
Serpinb9f	C	A	13: 33,518,587 (GRCm39)	H362Q	probably damaging	Het
Shld2	T	A	14: 33,967,189 (GRCm39)	K122N	probably damaging	Het
Slc22a8	G	T	19: 8,571,595 (GRCm39)	V109L	probably damaging	Het
Slc5a10	A	G	11: 61,564,809 (GRCm39)	V390A	probably benign	Het
Snx14	T	C	9: 88,263,869 (GRCm39)	N839D	possibly damaging	Het
Taf1c	G	A	8: 120,325,456 (GRCm39)	T802I	probably benign	Het
Tdh	C	A	14: 63,730,269 (GRCm39)	D337Y	probably damaging	Het
Tmem156	A	T	5: 65,222,438 (GRCm39)	Y255N	possibly damaging	Het
Tmpo	C	A	10: 90,997,720 (GRCm39)	R689L	probably benign	Het
Trim56	A	C	5: 137,141,783 (GRCm39)	C578G	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Trpv3	G	A	11: 73,179,035 (GRCm39)	W481*	probably null	Het
Tssk3	T	C	4: 129,383,445 (GRCm39)	M76V	probably benign	Het
Vmn1r215	A	T	13: 23,260,056 (GRCm39)	Y32F	possibly damaging	Het
Vmn1r53	A	G	6: 90,200,394 (GRCm39)	I310T	possibly damaging	Het
Vmn2r112	A	G	17: 22,821,470 (GRCm39)	T148A	probably benign	Het
Zdhhc14	G	A	17: 5,762,689 (GRCm39)	V198I	probably damaging	Het
Zfp109	T	C	7: 23,927,499 (GRCm39)	R637G	possibly damaging	Het
Zic5	G	T	14: 122,702,474 (GRCm39)	Q86K	unknown	Het
Zzef1	T	A	11: 72,777,572 (GRCm39)	M1801K	probably damaging	Het
Zzef1	T	G	11: 72,763,430 (GRCm39)	V1359G	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
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
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'- GGCCTAGGGACCCTATTTCAAG -3'
(R):5'- TGCAAGCCTAGCCTTACAGC -3'

Sequencing Primer
(F):5'- TAGGGACCCTATTTCAAGGACTC -3'
(R):5'- AAGCCTAGCCTTACAGCCTCTG -3'

Posted On

2021-01-18