Mutagenetix > Incidental Mutation

Incidental Mutation 'R6237:Rpl12'

504979

Institutional Source

Beutler Lab

Gene Symbol

Rpl12

Ensembl Gene

ENSMUSG00000038900

Gene Name

ribosomal protein L12

Synonyms

MMRRC Submission

044362-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32851724-32854057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32853000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 72 (E72K)

Ref Sequence

ENSEMBL: ENSMUSP00000117461 (fasta)

Gene Model

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

AlphaFold

P35979

PDB Structure

Solution structure of the N-terminal domain from mouse hypothetical protein BAB22488 [SOLUTION NMR]

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
AA Change: E72K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000117461
Gene: ENSMUSG00000038900
AA Change: E72K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134912

Predicted Effect

probably benign
Transcript: ENSMUST00000145578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145699

Predicted Effect

probably benign
Transcript: ENSMUST00000191838

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

noncoding transcript
Transcript: ENSMUST00000154340

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: 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

noncoding transcript
Transcript: ENSMUST00000144644

Meta Mutation Damage Score

0.1746

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	G	A	8: 120,342,502 (GRCm39)	R380H	probably damaging	Het
Akr1c12	C	A	13: 4,325,767 (GRCm39)	D109Y	possibly damaging	Het
Cacna1s	A	T	1: 136,033,582 (GRCm39)	M1020L	possibly damaging	Het
Cbx8	C	A	11: 118,931,213 (GRCm39)	R25L	possibly damaging	Het
Ccdc87	A	G	19: 4,891,407 (GRCm39)	Y633C	probably benign	Het
Col4a4	C	T	1: 82,484,752 (GRCm39)	S505N	unknown	Het
Cr2	T	A	1: 194,839,810 (GRCm39)	H539L	probably damaging	Het
Cyp2b9	T	A	7: 25,872,999 (GRCm39)	D47E	probably benign	Het
Dnah3	A	C	7: 119,608,607 (GRCm39)	M1784R	probably damaging	Het
Dnah8	T	A	17: 30,966,828 (GRCm39)	L2520*	probably null	Het
E2f2	A	G	4: 135,905,796 (GRCm39)	E103G	possibly damaging	Het
Eef1akmt3	T	A	10: 126,868,877 (GRCm39)	H199L	possibly damaging	Het
Faxc	A	T	4: 21,993,376 (GRCm39)	N340I	possibly damaging	Het
Fer1l6	A	T	15: 58,497,026 (GRCm39)	R1199*	probably null	Het
Fer1l6	A	G	15: 58,509,855 (GRCm39)	D1439G	probably damaging	Het
Galnt5	G	T	2: 57,925,261 (GRCm39)	W847C	probably damaging	Het
Gbp2	G	A	3: 142,337,793 (GRCm39)	S303N	probably benign	Het
Glipr1l1	A	T	10: 111,896,332 (GRCm39)	K40*	probably null	Het
Gm4353	A	C	7: 115,683,134 (GRCm39)	L149R	possibly damaging	Het
Grk5	A	G	19: 61,078,380 (GRCm39)	D479G	probably damaging	Het
Gzmc	T	A	14: 56,471,486 (GRCm39)		probably null	Het
Hace1	T	C	10: 45,524,986 (GRCm39)	Y251H	probably benign	Het
Hhla1	G	T	15: 65,813,646 (GRCm39)	P229T	probably damaging	Het
Hspa1l	C	T	17: 35,196,428 (GRCm39)	Q156*	probably null	Het
Igkv4-78	A	T	6: 69,036,683 (GRCm39)	Y117N	probably benign	Het
Ikzf3	C	A	11: 98,357,879 (GRCm39)	R486L	probably damaging	Het
Itpr1	C	T	6: 108,355,164 (GRCm39)	T485M	possibly damaging	Het
Kcnab3	T	C	11: 69,219,401 (GRCm39)	Y131H	probably benign	Het
Kcnu1	C	T	8: 26,422,362 (GRCm39)	P209L	probably benign	Het
Klk1b8	T	A	7: 43,448,094 (GRCm39)	C39*	probably null	Het
Mbtps1	A	G	8: 120,255,700 (GRCm39)	L519P	probably damaging	Het
Mgat4a	A	G	1: 37,495,673 (GRCm39)	I287T	probably damaging	Het
Mindy2	T	C	9: 70,512,480 (GRCm39)	E590G	possibly damaging	Het
Mllt11	G	T	3: 95,127,602 (GRCm39)	T56K	probably benign	Het
Myo5b	G	A	18: 74,875,249 (GRCm39)	R1551H	probably damaging	Het
Nmrk2	T	C	10: 81,036,796 (GRCm39)	T16A	possibly damaging	Het
Or2ab1	T	A	11: 58,488,831 (GRCm39)	F203Y	probably damaging	Het
Or7e170	G	T	9: 19,795,365 (GRCm39)	P79T	probably damaging	Het
Osbpl9	T	C	4: 109,013,899 (GRCm39)	D65G	probably damaging	Het
Phf2	T	A	13: 48,957,131 (GRCm39)	K1079*	probably null	Het
Plcb1	A	G	2: 135,212,486 (GRCm39)	S1026G	possibly damaging	Het
Pnrc2	A	T	4: 135,599,397 (GRCm39)	H117Q	probably benign	Het
Ppfia2	A	T	10: 106,749,455 (GRCm39)	I1114F	probably damaging	Het
Sbf1	C	T	15: 89,177,679 (GRCm39)	R1642H	probably benign	Het
Sephs2	G	A	7: 126,873,118 (GRCm39)		probably benign	Het
Slc35c2	A	T	2: 165,122,617 (GRCm39)	L194H	probably damaging	Het
Slfn4	T	A	11: 83,079,938 (GRCm39)	Y150N	probably damaging	Het
Srbd1	T	C	17: 86,292,723 (GRCm39)	R949G	probably damaging	Het
Urah	T	A	7: 140,415,618 (GRCm39)	S28T	probably damaging	Het
Wdr62	A	G	7: 29,941,860 (GRCm39)	S649P	probably damaging	Het
Wnk1	C	A	6: 119,929,728 (GRCm39)	G1263V	probably damaging	Het
Zbtb4	C	A	11: 69,669,069 (GRCm39)	D114E	possibly damaging	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
R5883:Rpl12	UTSW	2	32,852,536 (GRCm39)	unclassified	probably benign
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'- AGTCAGTAGTAGGTGCCAGG -3'
(R):5'- AGTTAAACCCCTGAGGCACTG -3'

Sequencing Primer
(F):5'- TAGGTGCCAGGGTGCAG -3'
(R):5'- TTTCTGCACCCAGGAAAGG -3'

Posted On

2018-02-28