Mutagenetix > Incidental Mutation

Incidental Mutation 'R7436:Rpl12'

580528

Institutional Source

Beutler Lab

Gene Symbol

Rpl12

Ensembl Gene

ENSMUSG00000038900

Gene Name

ribosomal protein L12

Synonyms

MMRRC Submission

045512-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7436 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32851724-32854057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32853836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 155 (I155V)

Ref Sequence

ENSEMBL: ENSMUSP00000117461 (fasta)

Gene Model

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

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

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

probably benign
Transcript: ENSMUST00000126610
AA Change: I155V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117461
Gene: ENSMUSG00000038900
AA Change: I155V

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191838

Meta Mutation Damage Score

0.1281

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,805,178 (GRCm39)		probably null	Het
2310034C09Rik	A	G	16: 88,556,242 (GRCm39)	Y152C	probably benign	Het
Acads	C	A	5: 115,249,057 (GRCm39)	Q365H	probably damaging	Het
Akap1	A	G	11: 88,736,354 (GRCm39)	S103P	probably damaging	Het
Ampd1	T	A	3: 102,981,435 (GRCm39)		probably null	Het
Apoa1	T	A	9: 46,141,100 (GRCm39)		probably null	Het
Asb16	A	G	11: 102,163,481 (GRCm39)	D157G	possibly damaging	Het
Bank1	T	C	3: 135,761,561 (GRCm39)	N748D	possibly damaging	Het
BC034090	C	A	1: 155,102,127 (GRCm39)	G46W	probably damaging	Het
Ccdc202	A	T	14: 96,120,027 (GRCm39)	K261N	probably benign	Het
Ccdc73	T	A	2: 104,782,214 (GRCm39)	V190E	probably damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyb561a3	A	G	19: 10,559,696 (GRCm39)	Y7C	probably damaging	Het
Cyp2t4	A	T	7: 26,857,668 (GRCm39)	D427V	probably damaging	Het
Cyp4f14	T	C	17: 33,128,131 (GRCm39)	T295A	probably benign	Het
D430041D05Rik	T	C	2: 104,087,447 (GRCm39)	T510A	probably benign	Het
Dennd6a	G	T	14: 26,300,865 (GRCm39)	E26*	probably null	Het
Dusp10	T	C	1: 183,801,418 (GRCm39)	I395T	probably damaging	Het
Dzip3	T	A	16: 48,772,352 (GRCm39)	H439L	probably damaging	Het
Heatr5b	T	A	17: 79,075,962 (GRCm39)	D1452V	probably benign	Het
Hsd3b2	A	G	3: 98,619,112 (GRCm39)	F278L	probably benign	Het
Hspg2	T	A	4: 137,242,975 (GRCm39)	M702K	probably damaging	Het
Hydin	T	C	8: 111,310,546 (GRCm39)	F4081L	probably damaging	Het
Ido1	T	G	8: 25,076,932 (GRCm39)	T209P	probably benign	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ipo8	T	C	6: 148,691,303 (GRCm39)	Y689C	probably benign	Het
Macf1	C	T	4: 123,350,436 (GRCm39)	R3809Q	probably benign	Het
Manea	T	C	4: 26,328,228 (GRCm39)	Y271C	probably damaging	Het
Mroh2b	A	G	15: 4,971,036 (GRCm39)	T1014A	probably benign	Het
Nek5	A	G	8: 22,598,056 (GRCm39)	F200L	probably damaging	Het
Nipal1	A	G	5: 72,824,984 (GRCm39)	I226V	probably benign	Het
Nipsnap3a	A	T	4: 52,994,159 (GRCm39)	N80I	probably damaging	Het
Nmur1	G	A	1: 86,314,100 (GRCm39)	P389S	probably benign	Het
Or10d5	G	T	9: 39,861,349 (GRCm39)	C239*	probably null	Het
Or1p1	T	C	11: 74,179,511 (GRCm39)	L13P	possibly damaging	Het
Or8u10	T	C	2: 85,915,251 (GRCm39)	Y290C	probably damaging	Het
Patl2	A	C	2: 121,958,006 (GRCm39)	V84G	probably benign	Het
Pcdhb4	T	C	18: 37,442,328 (GRCm39)	V546A	probably damaging	Het
Phf20l1	G	T	15: 66,469,599 (GRCm39)	S168I	possibly damaging	Het
Phgdh	T	C	3: 98,247,045 (GRCm39)	N35S	probably benign	Het
Pigw	A	T	11: 84,768,789 (GRCm39)	M180K	probably damaging	Het
Pkhd1	G	T	1: 20,270,925 (GRCm39)	H3209Q	probably benign	Het
Plbd2	A	G	5: 120,624,861 (GRCm39)	F436L	probably damaging	Het
Plch2	T	C	4: 155,068,553 (GRCm39)	T1358A	probably benign	Het
Poll	C	T	19: 45,541,496 (GRCm39)	V491M	probably damaging	Het
Polr1e	A	G	4: 45,024,553 (GRCm39)		probably null	Het
Ppp1r35	G	A	5: 137,778,279 (GRCm39)	W258*	probably null	Het
Ptpdc1	A	T	13: 48,740,142 (GRCm39)	F430I	probably benign	Het
Ptprh	T	C	7: 4,555,742 (GRCm39)	E739G	probably damaging	Het
Ramp2	T	C	11: 101,138,765 (GRCm39)	V148A	possibly damaging	Het
Rapgef6	T	C	11: 54,501,747 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,627,593 (GRCm39)		probably null	Het
Rnf39	A	T	17: 37,254,241 (GRCm39)	S88C	probably benign	Het
Scart2	A	T	7: 139,841,520 (GRCm39)	T275S	probably benign	Het
Senp5	C	T	16: 31,794,847 (GRCm39)	E596K	unknown	Het
Serpinb9d	A	G	13: 33,379,916 (GRCm39)	Y85C	probably benign	Het
Serpinf1	T	A	11: 75,307,142 (GRCm39)	Y65F	probably benign	Het
Snrnp200	G	A	2: 127,068,404 (GRCm39)		probably null	Het
Spatc1	A	T	15: 76,152,568 (GRCm39)	Q66L	probably benign	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,345,211 (GRCm39)		probably benign	Het
Traf3ip1	A	G	1: 91,439,110 (GRCm39)	D342G	probably benign	Het
Txk	T	A	5: 72,853,922 (GRCm39)	T472S	probably damaging	Het
Ube2j2	T	C	4: 156,041,788 (GRCm39)	V249A	probably damaging	Het
Utrn	A	C	10: 12,315,535 (GRCm39)	N3025K	possibly damaging	Het
Vmn1r17	T	A	6: 57,337,862 (GRCm39)	M168L	probably benign	Het
Vmn1r77	T	A	7: 11,775,694 (GRCm39)	S157T	probably benign	Het
Zfp977	A	G	7: 42,229,884 (GRCm39)	S214P	probably benign	Het
Zscan10	T	C	17: 23,828,979 (GRCm39)	L507P	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
R6237:Rpl12	UTSW	2	32,853,000 (GRCm39)	missense	probably benign	0.01
R7225:Rpl12	UTSW	2	32,851,909 (GRCm39)	unclassified	probably benign
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'- ACGCTATTTTCCCTGAGTGG -3'
(R):5'- GCTTCTTAACTCTGTGGGAAAAG -3'

Sequencing Primer
(F):5'- CAAGATTTGGATTTTCCCATGGATCC -3'
(R):5'- ACTCTGTGGGAAAAGAAATATTGTC -3'

Posted On

2019-10-07