Mutagenetix > Incidental Mutation

Incidental Mutation 'R0095:Rpl6'

64030

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: 0.944) question?

Stock #

R0095 (G1)

Quality Score

115

Status

Not 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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa8	G	A	14: 33,808,028 (GRCm39)	A6T	probably benign	Het
Bicc1	T	A	10: 70,796,988 (GRCm39)	I42F	probably damaging	Het
Cutc	T	C	19: 43,741,638 (GRCm39)	W13R	probably benign	Het
F5	A	T	1: 164,019,537 (GRCm39)	R671*	probably null	Het
Fer	A	T	17: 64,248,321 (GRCm39)	E361V	possibly damaging	Het
Hnrnpa3	G	T	2: 75,492,040 (GRCm39)	R52L	probably damaging	Het
Igsf10	A	T	3: 59,238,617 (GRCm39)	Y521*	probably null	Het
Lratd2	T	C	15: 60,695,425 (GRCm39)	Y107C	probably damaging	Het
Mmp1a	G	A	9: 7,465,621 (GRCm39)	G186D	possibly damaging	Het
Naip1	T	C	13: 100,559,591 (GRCm39)	T1138A	probably benign	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
Sec16a	A	T	2: 26,315,772 (GRCm39)		probably null	Het
Tpsg1	T	C	17: 25,591,528 (GRCm39)	W43R	probably damaging	Het
Unc45a	T	C	7: 79,979,291 (GRCm39)	D567G	probably damaging	Het
Usp30	T	A	5: 114,243,901 (GRCm39)	F157I	probably damaging	Het
Zfp345	T	A	2: 150,314,220 (GRCm39)	H439L	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

Predicted Primers

PCR Primer
(F):5'- AACGGATGGCCCACTATGATGC -3'
(R):5'- TACCTTGGCAGAAGGCACACAC -3'

Sequencing Primer
(F):5'- ATGGCCCACTATGATGCCTTATTC -3'
(R):5'- CTTTCTTCAAGAGGGAAAACTAGAC -3'

Posted On

2013-08-06