Mutagenetix > Incidental Mutation

Incidental Mutation 'R0095:Rpl6'

17110

Institutional Source

Beutler Lab

Gene Symbol

Rpl6

Ensembl Gene

ENSMUSG00000029614

Gene Name

ribosomal protein L6

Synonyms

Taxreb107

MMRRC Submission

038381-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R0095 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121342564-121347304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121343902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 115 (V115G)

Ref Sequence

ENSEMBL: ENSMUSP00000031617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031617] [ENSMUST00000201155]

AlphaFold

P47911

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031617
AA Change: V115G

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031617
Gene: ENSMUSG00000029614
AA Change: V115G

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L6e_N	43	103	4.5e-36	PFAM
Pfam:Ribosomal_L6e	189	296	2.7e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197044

Predicted Effect

probably benign
Transcript: ENSMUST00000201155

SMART Domains

Protein: ENSMUSP00000143981
Gene: ENSMUSG00000029614

Domain	Start	End	E-Value	Type
Blast:Zn_pept	1	33	7e-11	BLAST
PDB:3J39\|E	2	45	3e-13	PDB

Meta Mutation Damage Score

0.6315

Coding Region Coverage

1x: 88.6%
3x: 85.1%
10x: 74.3%
20x: 56.3%

Validation Efficiency

88% (50/57)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	T	C	1: 9,630,402 (GRCm39)	I317T	possibly damaging	Het
Aldh3a2	C	T	11: 61,141,774 (GRCm39)	G21D	probably damaging	Het
Alms1	C	A	6: 85,597,235 (GRCm39)	T1156N	possibly damaging	Het
Anxa8	G	A	14: 33,808,028 (GRCm39)	A6T	probably benign	Het
Arhgef4	C	T	1: 34,771,451 (GRCm39)	Q86*	probably null	Het
Atp4a	T	A	7: 30,420,160 (GRCm39)	I769N	probably damaging	Het
Cacnb2	G	T	2: 14,963,586 (GRCm39)	V61F	probably damaging	Het
Clcf1	T	G	19: 4,265,842 (GRCm39)		probably benign	Het
Cmah	G	T	13: 24,620,668 (GRCm39)	A301S	probably benign	Het
Col6a4	A	G	9: 105,952,555 (GRCm39)	W448R	probably benign	Het
Csmd1	A	T	8: 16,283,065 (GRCm39)	D630E	probably damaging	Het
Dock10	A	T	1: 80,501,788 (GRCm39)	Y1434N	probably benign	Het
Etl4	A	G	2: 20,748,679 (GRCm39)	D137G	probably damaging	Het
Fer	A	T	17: 64,248,321 (GRCm39)	E361V	possibly damaging	Het
Foxp2	C	A	6: 15,196,976 (GRCm39)	A6E	probably damaging	Het
Gpr3	T	A	4: 132,938,597 (GRCm39)	D25V	probably benign	Het
Gstm7	A	T	3: 107,837,879 (GRCm39)		probably benign	Het
Gys1	T	C	7: 45,094,073 (GRCm39)	V332A	possibly damaging	Het
Igsf10	A	T	3: 59,238,617 (GRCm39)	Y521*	probably null	Het
Itk	T	C	11: 46,233,279 (GRCm39)	D266G	probably damaging	Het
Kdm1a	C	T	4: 136,278,205 (GRCm39)	R839H	probably benign	Het
Lypla1	T	C	1: 4,900,550 (GRCm39)		probably benign	Het
Mmp1a	G	A	9: 7,465,621 (GRCm39)	G186D	possibly damaging	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Necab1	T	A	4: 14,960,027 (GRCm39)	N307Y	possibly damaging	Het
Or5p81	A	C	7: 108,267,252 (GRCm39)	I210L	probably benign	Het
Plekha5	T	C	6: 140,474,323 (GRCm39)	F84L	probably damaging	Het
Plxnb2	A	G	15: 89,049,534 (GRCm39)	S562P	probably benign	Het
Rfx8	C	T	1: 39,724,696 (GRCm39)	V222M	possibly damaging	Het
Rpap3	A	G	15: 97,578,417 (GRCm39)		probably benign	Het
Sec16a	A	T	2: 26,315,772 (GRCm39)		probably null	Het
Sema3d	T	C	5: 12,613,314 (GRCm39)	Y464H	probably damaging	Het
Sgo2a	T	A	1: 58,054,714 (GRCm39)	N299K	probably benign	Het
Tecrl	T	C	5: 83,442,417 (GRCm39)		probably benign	Het
Thsd7a	T	C	6: 12,320,969 (GRCm39)	T1569A	probably damaging	Het
U2surp	T	C	9: 95,382,737 (GRCm39)		probably null	Het
Unc45a	T	C	7: 79,979,291 (GRCm39)	D567G	probably damaging	Het
Zfp532	A	G	18: 65,757,855 (GRCm39)	Y596C	probably damaging	Het

Other mutations in Rpl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02819:Rpl6	APN	5	121,345,264 (GRCm39)	splice site	probably benign
R0095:Rpl6	UTSW	5	121,343,902 (GRCm39)	missense	possibly damaging	0.62
R0197:Rpl6	UTSW	5	121,346,541 (GRCm39)	missense	probably benign	0.18
R0346:Rpl6	UTSW	5	121,346,554 (GRCm39)	missense	possibly damaging	0.52
R0883:Rpl6	UTSW	5	121,346,541 (GRCm39)	missense	probably benign	0.18
R0972:Rpl6	UTSW	5	121,346,565 (GRCm39)	missense	possibly damaging	0.75
R6005:Rpl6	UTSW	5	121,343,577 (GRCm39)	unclassified	probably benign
R6278:Rpl6	UTSW	5	121,346,912 (GRCm39)	missense	possibly damaging	0.94
R7021:Rpl6	UTSW	5	121,346,972 (GRCm39)	missense	probably benign	0.35
R7426:Rpl6	UTSW	5	121,343,655 (GRCm39)	missense	possibly damaging	0.69
R7488:Rpl6	UTSW	5	121,346,591 (GRCm39)	missense	probably benign	0.01
R9305:Rpl6	UTSW	5	121,346,516 (GRCm39)	missense	possibly damaging	0.81
Z1177:Rpl6	UTSW	5	121,344,860 (GRCm39)	missense	probably benign	0.01

Posted On

2013-01-20