Mutagenetix > Incidental Mutation

Incidental Mutation 'R7225:Rpl12'

574654

Institutional Source

Beutler Lab

Gene Symbol

Rpl12

Ensembl Gene

ENSMUSG00000038900

Gene Name

ribosomal protein L12

Synonyms

MMRRC Submission

045297-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32961559-32965345 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 32961897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141713 (fasta)

Gene Model

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

unknown
Transcript: ENSMUST00000102811
AA Change: A32V

SMART Domains

Protein: ENSMUSP00000141294
Gene: ENSMUSG00000038900
AA Change: A32V

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

SMART Domains

Protein: ENSMUSP00000117461
Gene: ENSMUSG00000038900

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,670,865 (GRCm38)		probably benign	Het
5430403G16Rik	T	C	5: 109,677,149 (GRCm38)	H145R	possibly damaging	Het
5730480H06Rik	T	A	5: 48,380,233 (GRCm38)		probably null	Het
Actn4	A	T	7: 28,898,699 (GRCm38)	V492D	probably damaging	Het
Alpk2	T	C	18: 65,305,199 (GRCm38)	E1041G	probably benign	Het
Asap1	G	A	15: 64,130,250 (GRCm38)	T404M	probably damaging	Het
Cd22	C	T	7: 30,877,634 (GRCm38)	A83T	not run	Het
Cdan1	T	C	2: 120,724,912 (GRCm38)	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,073 (GRCm38)	S733F	probably damaging	Het
Cfap54	A	G	10: 92,904,374 (GRCm38)	F2282S	unknown	Het
Chst9	T	C	18: 15,452,661 (GRCm38)	K282E	probably damaging	Het
Clcn1	G	A	6: 42,293,462 (GRCm38)	D232N	probably damaging	Het
Clpb	T	A	7: 101,711,465 (GRCm38)	L234Q	probably damaging	Het
Cluh	T	G	11: 74,666,406 (GRCm38)		probably null	Het
Cnp	C	T	11: 100,580,587 (GRCm38)	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,928,189 (GRCm38)		probably null	Het
Dtx3	C	T	10: 127,191,489 (GRCm38)	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756 (GRCm38)	I1156T	probably benign	Het
Epg5	T	A	18: 78,012,702 (GRCm38)	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,423,624 (GRCm38)	D211G	probably benign	Het
Fank1	A	G	7: 133,853,259 (GRCm38)	K36R	probably benign	Het
Fat4	T	C	3: 38,980,176 (GRCm38)	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,420,952 (GRCm38)	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,684,047 (GRCm38)	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,552,298 (GRCm38)	V528G	probably damaging	Het
Gria2	T	A	3: 80,802,631 (GRCm38)		probably benign	Het
Htatip2	A	G	7: 49,770,856 (GRCm38)	E150G	possibly damaging	Het
Jak3	C	A	8: 71,685,511 (GRCm38)	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,226,065 (GRCm38)	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,175,693 (GRCm38)	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,746,914 (GRCm38)	V88A	probably benign	Het
Lmod3	T	A	6: 97,247,384 (GRCm38)	D492V	probably benign	Het
Lurap1l	A	C	4: 80,911,481 (GRCm38)	S43R	probably benign	Het
Mamdc4	T	C	2: 25,565,546 (GRCm38)	H890R	possibly damaging	Het
Mertk	T	G	2: 128,801,562 (GRCm38)	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,065,100 (GRCm38)	D346E	probably benign	Het
Olfr1434	A	T	19: 12,283,467 (GRCm38)	T140S	probably benign	Het
Opa1	A	G	16: 29,614,039 (GRCm38)		probably null	Het
Oxr1	C	T	15: 41,813,608 (GRCm38)	P187L	not run	Het
Paxbp1	T	C	16: 91,027,068 (GRCm38)	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,444,437 (GRCm38)	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,546,941 (GRCm38)	V2615F	probably damaging	Het
Plin3	T	C	17: 56,286,541 (GRCm38)	T58A	possibly damaging	Het
Por	A	G	5: 135,732,587 (GRCm38)	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,468,579 (GRCm38)	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,472,846 (GRCm38)	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,929 (GRCm38)	G1006E	possibly damaging	Het
Rnf219	T	C	14: 104,479,858 (GRCm38)	T360A	probably benign	Het
Rpsa	T	G	9: 120,131,156 (GRCm38)	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,267,389 (GRCm38)	N991K	probably damaging	Het
Shank2	T	A	7: 144,285,025 (GRCm38)	N19K	probably benign	Het
Sik1	T	C	17: 31,854,300 (GRCm38)	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,399,428 (GRCm38)	V472G	probably damaging	Het
Sirt6	A	G	10: 81,622,481 (GRCm38)	S313P	probably benign	Het
Slc12a7	A	G	13: 73,763,962 (GRCm38)		probably benign	Het
Sox13	A	T	1: 133,387,124 (GRCm38)	V266E	probably benign	Het
Spag9	T	C	11: 94,097,358 (GRCm38)	C833R	probably damaging	Het
Tcof1	T	C	18: 60,828,448 (GRCm38)	T812A	unknown	Het
Tnfsf4	A	G	1: 161,417,250 (GRCm38)	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,769,657 (GRCm38)	N357S	probably damaging	Het
Txk	C	T	5: 72,700,714 (GRCm38)	D418N	probably damaging	Het
Ube2j2	A	G	4: 155,949,316 (GRCm38)		probably null	Het
Vmn2r84	G	A	10: 130,386,683 (GRCm38)	P556L	probably damaging	Het
Zfp442	T	C	2: 150,409,005 (GRCm38)	N326D	probably benign	Het

Other mutations in Rpl12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Rpl12	APN	2	32,963,747 (GRCm38)	missense	probably benign	0.08
R1675:Rpl12	UTSW	2	32,963,525 (GRCm38)	missense	probably benign	0.01
R4108:Rpl12	UTSW	2	32,961,824 (GRCm38)	missense	probably damaging	0.96
R5883:Rpl12	UTSW	2	32,962,524 (GRCm38)	unclassified	probably benign
R6237:Rpl12	UTSW	2	32,962,988 (GRCm38)	missense	probably benign	0.01
R7436:Rpl12	UTSW	2	32,963,824 (GRCm38)	missense	probably benign	0.01
R8674:Rpl12	UTSW	2	32,962,110 (GRCm38)	unclassified	probably benign
Z1088:Rpl12	UTSW	2	32,963,019 (GRCm38)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AGCAGGATCCGTCTTTTCG -3'
(R):5'- ACGTTAGAGGTCTACGGCTC -3'

Sequencing Primer
(F):5'- TCGGCTTTCGGCTCGGAG -3'
(R):5'- GGAGCGACGACTTACCAGAC -3'

Posted On

2019-09-27