Mutagenetix > Incidental Mutation

Incidental Mutation 'R4108:Rpl12'

321450

Institutional Source

Beutler Lab

Gene Symbol

Rpl12

Ensembl Gene

ENSMUSG00000038900

Gene Name

ribosomal protein L12

Synonyms

MMRRC Submission

040987-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4108 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

32851724-32854057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32851836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 8 (N8Y)

Ref Sequence

ENSEMBL: ENSMUSP00000117461 (fasta)

Gene Model

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

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

unknown
Transcript: ENSMUST00000102811
AA Change: N8Y

SMART Domains

Protein: ENSMUSP00000141294
Gene: ENSMUSG00000038900
AA Change: N8Y

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 damaging
Transcript: ENSMUST00000126610
AA Change: N8Y

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117461
Gene: ENSMUSG00000038900
AA Change: N8Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154340

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

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: ENSMUST00000145578

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

Meta Mutation Damage Score

0.4098

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (65/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,061,796 (GRCm39)	Y82C	probably damaging	Het
4930579F01Rik	T	C	3: 137,889,431 (GRCm39)	N62S	probably benign	Het
Acad10	G	T	5: 121,769,527 (GRCm39)	S643Y	probably damaging	Het
Acox3	T	C	5: 35,758,896 (GRCm39)	F369S	probably damaging	Het
Arhgap31	A	G	16: 38,422,788 (GRCm39)	S1093P	probably damaging	Het
Atp4b	A	G	8: 13,446,640 (GRCm39)		probably null	Het
Bmper	G	A	9: 23,136,059 (GRCm39)	V47I	probably benign	Het
Caskin1	C	A	17: 24,721,121 (GRCm39)	T487K	probably benign	Het
Ccr7	C	T	11: 99,036,204 (GRCm39)	M239I	probably damaging	Het
Cdh23	C	A	10: 60,246,601 (GRCm39)	V944L	possibly damaging	Het
Cenpf	A	G	1: 189,416,065 (GRCm39)	S87P	probably damaging	Het
Chd9	A	T	8: 91,737,304 (GRCm39)	D1461V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyb5r2	A	T	7: 107,353,136 (GRCm39)	M102K	probably damaging	Het
Cyp2j7	T	C	4: 96,087,687 (GRCm39)	T408A	possibly damaging	Het
Dnajb2	G	T	1: 75,213,543 (GRCm39)	E6*	probably null	Het
Dtx4	G	A	19: 12,478,487 (GRCm39)	A32V	probably damaging	Het
Eml5	T	C	12: 98,807,807 (GRCm39)		probably null	Het
Eml6	A	C	11: 29,755,136 (GRCm39)	S880A	probably damaging	Het
Fsd2	C	T	7: 81,194,715 (GRCm39)	V483I	probably benign	Het
Inf2	T	C	12: 112,574,015 (GRCm39)	L773P	unknown	Het
Kif26b	A	G	1: 178,744,530 (GRCm39)	Q1095R	possibly damaging	Het
Leprotl1	A	G	8: 34,607,913 (GRCm39)		probably null	Het
Lrp1b	A	G	2: 40,555,099 (GRCm39)	V340A	unknown	Het
Myh1	T	C	11: 67,102,403 (GRCm39)	V898A	probably benign	Het
Ncstn	G	T	1: 171,900,111 (GRCm39)	N254K	probably damaging	Het
Nfatc1	T	A	18: 80,741,583 (GRCm39)	H139L	possibly damaging	Het
Nfe2l1	C	T	11: 96,710,220 (GRCm39)		probably null	Het
Nfya	G	T	17: 48,699,912 (GRCm39)	Y37*	probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or2b6	A	G	13: 21,822,952 (GRCm39)	V247A	probably damaging	Het
Or7g26	T	A	9: 19,230,608 (GRCm39)	Y265*	probably null	Het
Otogl	C	T	10: 107,607,105 (GRCm39)	V2093I	probably benign	Het
Phc2	A	G	4: 128,601,776 (GRCm39)	Y77C	probably damaging	Het
Pik3c2g	C	A	6: 139,676,096 (GRCm39)	A80E	probably benign	Het
Plxnd1	G	T	6: 115,936,276 (GRCm39)	H1675N	probably damaging	Het
Pou4f3	A	G	18: 42,528,987 (GRCm39)	K310R	probably damaging	Het
Ppp1r12c	T	C	7: 4,489,565 (GRCm39)	D199G	probably damaging	Het
Prss22	A	G	17: 24,212,847 (GRCm39)	Y297H	probably benign	Het
Psmb7	T	A	2: 38,532,211 (GRCm39)	H78L	probably damaging	Het
Rad51ap2	T	C	12: 11,508,396 (GRCm39)	C773R	probably damaging	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Sbf1	T	C	15: 89,172,788 (GRCm39)		probably benign	Het
Scn3a	A	G	2: 65,325,379 (GRCm39)	I1046T	probably benign	Het
Setd1a	G	A	7: 127,398,374 (GRCm39)		probably benign	Het
Slc15a2	G	T	16: 36,602,755 (GRCm39)		probably benign	Het
Slc34a2	G	A	5: 53,221,351 (GRCm39)	V266I	possibly damaging	Het
Smtn	G	A	11: 3,476,449 (GRCm39)	T144I	probably benign	Het
Spta1	A	G	1: 174,002,122 (GRCm39)	N84S	probably benign	Het
Sult6b1	G	T	17: 79,214,291 (GRCm39)	T6N	probably damaging	Het
Supt16	T	C	14: 52,400,188 (GRCm39)	E985G	probably damaging	Het
Tbcd	T	A	11: 121,384,637 (GRCm39)	H39Q	probably benign	Het
Tpo	G	A	12: 30,142,585 (GRCm39)	P713L	probably damaging	Het
Tsg101	T	A	7: 46,542,242 (GRCm39)	D99V	probably damaging	Het
Ttn	G	C	2: 76,581,215 (GRCm39)	A23226G	probably damaging	Het
Ttn	C	T	2: 76,608,809 (GRCm39)	V15990I	probably benign	Het
Ubald1	C	A	16: 4,693,731 (GRCm39)	M61I	probably benign	Het
Ush1c	C	T	7: 45,847,869 (GRCm39)	D465N	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vps54	A	G	11: 21,262,877 (GRCm39)	I655V	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
R5883:Rpl12	UTSW	2	32,852,536 (GRCm39)	unclassified	probably benign
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'- GCCTGCCCATAAGAAACAGG -3'
(R):5'- AAATCAGAACCTCTGCGGC -3'

Sequencing Primer
(F):5'- GCCCATAAGAAACAGGGCGAC -3'
(R):5'- CCCTCTTACACACGTGG -3'

Posted On

2015-06-12