Mutagenetix > Incidental Mutation

Incidental Mutation 'R5883:Rpl12'

454499

Institutional Source

Beutler Lab

Gene Symbol

Rpl12

Ensembl Gene

ENSMUSG00000038900

Gene Name

ribosomal protein L12

Synonyms

MMRRC Submission

044086-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32851724-32854057 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 32852536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028132] [ENSMUST00000102811] [ENSMUST00000113200] [ENSMUST00000124492] [ENSMUST00000126610] [ENSMUST00000145578] [ENSMUST00000127321] [ENSMUST00000133832] [ENSMUST00000147528] [ENSMUST00000191838]

AlphaFold

P35979

Predicted Effect

probably benign
Transcript: ENSMUST00000028132

SMART Domains

Protein: ENSMUSP00000028132
Gene: ENSMUSG00000026792

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR	103	125	9.3e-1	SMART
LRR	126	148	1.91e1	SMART
LRR	149	171	7.05e-1	SMART
Blast:IlGF	191	321	1e-71	BLAST
low complexity region	322	333	N/A	INTRINSIC
low complexity region	474	493	N/A	INTRINSIC
coiled coil region	500	547	N/A	INTRINSIC
SAM	566	632	2.42e-2	SMART
RING	679	713	3.51e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083190

Predicted Effect

probably benign
Transcript: ENSMUST00000102811

SMART Domains

Protein: ENSMUSP00000141294
Gene: ENSMUSG00000038900

Domain	Start	End	E-Value	Type
low complexity region	58	67	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113200

SMART Domains

Protein: ENSMUSP00000108825
Gene: ENSMUSG00000026792

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR	103	125	9.3e-1	SMART
LRR	126	148	1.91e1	SMART
LRR	149	171	7.05e-1	SMART
Blast:IlGF	191	321	1e-71	BLAST
low complexity region	322	333	N/A	INTRINSIC
low complexity region	474	493	N/A	INTRINSIC
coiled coil region	500	547	N/A	INTRINSIC
SAM	566	632	2.42e-2	SMART
RING	679	713	3.51e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125415

Predicted Effect

probably benign
Transcript: ENSMUST00000126610

SMART Domains

Protein: ENSMUSP00000117461
Gene: ENSMUSG00000038900

Domain	Start	End	E-Value	Type
RL11	13	144	1.62e-61	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154340

Predicted Effect

probably benign
Transcript: ENSMUST00000145578

Predicted Effect

probably benign
Transcript: ENSMUST00000127321

SMART Domains

Protein: ENSMUSP00000115830
Gene: ENSMUSG00000026792

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR_TYP	103	126	1.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133832

SMART Domains

Protein: ENSMUSP00000117194
Gene: ENSMUSG00000026792

Domain	Start	End	E-Value	Type
LRR	80	102	1.26e1	SMART
LRR_TYP	103	126	1.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147528

SMART Domains

Protein: ENSMUSP00000122877
Gene: ENSMUSG00000026792

Domain	Start	End	E-Value	Type
Pfam:LRR_1	32	52	8.9e-2	PFAM
LRR	80	102	1.26e1	SMART
LRR	103	124	3.75e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191838

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.9%
20x: 83.7%

Validation Efficiency

100% (70/70)

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 ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Aass	G	A	6: 23,072,993 (GRCm39)	T920I	probably benign	Het
Akirin2	A	G	4: 34,565,256 (GRCm39)	I168V	possibly damaging	Het
Ambn	T	A	5: 88,615,688 (GRCm39)	Y372*	probably null	Het
Ano3	T	A	2: 110,711,209 (GRCm39)	E85V	probably null	Het
Bmf	C	T	2: 118,377,447 (GRCm39)		silent	Het
Bmper	T	A	9: 23,317,970 (GRCm39)	S530T	probably benign	Het
Bop1	T	C	15: 76,339,049 (GRCm39)	D383G	probably damaging	Het
Bub1b	T	A	2: 118,440,363 (GRCm39)	Y156N	probably damaging	Het
Cacna1h	A	G	17: 25,595,896 (GRCm39)	V1987A	probably benign	Het
Cd84	T	C	1: 171,700,405 (GRCm39)	V174A	possibly damaging	Het
Cep290	T	A	10: 100,359,261 (GRCm39)	L997Q	probably benign	Het
Chil4	C	T	3: 106,117,886 (GRCm39)	R128H	possibly damaging	Het
Cpne3	A	T	4: 19,552,314 (GRCm39)	V106D	possibly damaging	Het
D6Wsu163e	A	G	6: 126,943,879 (GRCm39)	E425G	probably damaging	Het
Dlgap1	A	T	17: 70,824,008 (GRCm39)		probably benign	Het
Dnhd1	C	A	7: 105,369,711 (GRCm39)	H4379N	probably damaging	Het
Gm10309	A	G	17: 86,806,185 (GRCm39)		probably benign	Het
Gm6264	G	A	1: 85,148,903 (GRCm39)		probably benign	Het
Has2	T	A	15: 56,531,459 (GRCm39)	I419F	possibly damaging	Het
Hscb	A	G	5: 110,987,444 (GRCm39)	C51R	probably benign	Het
Ighv1-61	T	C	12: 115,323,183 (GRCm39)	S4G	probably benign	Het
Islr2	G	T	9: 58,105,998 (GRCm39)	Q465K	probably benign	Het
Jakmip2	T	C	18: 43,715,059 (GRCm39)	I156V	possibly damaging	Het
Klk1b24	A	G	7: 43,839,787 (GRCm39)	I49V	probably benign	Het
Krt90	C	T	15: 101,461,654 (GRCm39)		probably benign	Het
Larp1	C	T	11: 57,933,125 (GRCm39)	S243F	probably damaging	Het
Lrp4	T	C	2: 91,318,778 (GRCm39)	Y872H	probably benign	Het
Maip1	T	C	1: 57,446,260 (GRCm39)	M110T	probably damaging	Het
Marchf7	G	A	2: 60,064,786 (GRCm39)	R354Q	probably damaging	Het
Med12l	G	T	3: 58,998,889 (GRCm39)	E605D	probably damaging	Het
Nt5c1a	T	A	4: 123,110,049 (GRCm39)		probably null	Het
Or2j6	T	A	7: 139,980,101 (GRCm39)	Y286F	probably damaging	Het
Or5ac25	A	T	16: 59,182,078 (GRCm39)	C168S	probably damaging	Het
Or5p66	C	T	7: 107,885,451 (GRCm39)	S294N	probably damaging	Het
Pdzd9	T	A	7: 120,267,776 (GRCm39)	E13V	possibly damaging	Het
Ppip5k2	C	T	1: 97,635,535 (GRCm39)	A1100T	possibly damaging	Het
Prkdc	C	A	16: 15,533,778 (GRCm39)	Q1539K	probably benign	Het
Rad54l	C	G	4: 115,956,243 (GRCm39)		probably benign	Het
Ric1	T	A	19: 29,573,389 (GRCm39)	I943N	probably damaging	Het
Rif1	T	A	2: 51,995,651 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,860,637 (GRCm39)		probably benign	Het
Scarb1	C	A	5: 125,417,971 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,040,463 (GRCm39)	E359G	probably damaging	Het
Taf5	A	G	19: 47,056,228 (GRCm39)	T9A	unknown	Het
Tmem128	C	T	5: 38,423,885 (GRCm39)	A33V	possibly damaging	Het
Tox	A	C	4: 6,697,444 (GRCm39)	V453G	probably benign	Het
Ubxn4	T	A	1: 128,183,867 (GRCm39)	C76S	probably damaging	Het
Vmn2r100	A	T	17: 19,743,786 (GRCm39)	Y483F	probably benign	Het
Xkr5	A	G	8: 18,990,806 (GRCm39)	S154P	probably damaging	Het
Zfp687	T	C	3: 94,919,355 (GRCm39)	N139S	probably benign	Het

Other mutations in Rpl12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Rpl12	APN	2	32,853,759 (GRCm39)	missense	probably benign	0.08
R1675:Rpl12	UTSW	2	32,853,537 (GRCm39)	missense	probably benign	0.01
R4108:Rpl12	UTSW	2	32,851,836 (GRCm39)	missense	probably damaging	0.96
R6237:Rpl12	UTSW	2	32,853,000 (GRCm39)	missense	probably benign	0.01
R7225:Rpl12	UTSW	2	32,851,909 (GRCm39)	unclassified	probably benign
R7436:Rpl12	UTSW	2	32,853,836 (GRCm39)	missense	probably benign	0.01
R8674:Rpl12	UTSW	2	32,852,122 (GRCm39)	unclassified	probably benign
Z1088:Rpl12	UTSW	2	32,853,031 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TAAATCCACTAGCCTCCGTGG -3'
(R):5'- GATTCCTGAGGGCTGCTATC -3'

Sequencing Primer
(F):5'- ACTAGCCTCCGTGGGTAAC -3'
(R):5'- TGAGGGCTGCTATCTCAACC -3'

Posted On

2017-02-10