Mutagenetix > Incidental Mutations

Incidental Mutation 'R5545:Rsl1d1'

436200

Institutional Source

Beutler Lab

Gene Symbol

Rsl1d1

Ensembl Gene

ENSMUSG00000005846

Gene Name

ribosomal L1 domain containing 1

Synonyms

MMRRC Submission

043103-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R5545 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11192970-11203331 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11199650 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 151 (F151L)

Ref Sequence

ENSEMBL: ENSMUSP00000113431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119953] [ENSMUST00000230002]

Predicted Effect

probably damaging
Transcript: ENSMUST00000119953
AA Change: F151L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113431
Gene: ENSMUSG00000005846
AA Change: F151L

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Pfam:Ribosomal_L1	36	259	2.3e-52	PFAM
coiled coil region	281	313	N/A	INTRINSIC
low complexity region	331	342	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229756

Predicted Effect

probably benign
Transcript: ENSMUST00000230002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230166

Predicted Effect

probably benign
Transcript: ENSMUST00000230232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230245

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	C	3: 145,939,098		probably null	Het
Acot5	G	A	12: 84,069,606	R47Q	possibly damaging	Het
Akr1c19	A	T	13: 4,242,595	Y205F	probably benign	Het
Cdh6	T	C	15: 13,041,149	Y564C	probably damaging	Het
Cngb1	A	G	8: 95,252,173	S551P		Het
Cyp20a1	T	C	1: 60,376,082	I289T	possibly damaging	Het
Gm17677	A	G	9: 35,741,644	I61V	probably benign	Het
Herc6	A	T	6: 57,658,007		probably null	Het
Ifnar2	G	A	16: 91,385,025		probably null	Het
Kcnd2	A	G	6: 21,217,019	T241A	probably damaging	Het
Nfatc2ip	T	A	7: 126,390,470	E247D	possibly damaging	Het
Olfr1394	G	A	11: 49,160,626	C204Y	probably damaging	Het
Olfr267	T	G	4: 58,785,585	I46L	probably benign	Het
Plekhg2	T	C	7: 28,362,461	E638G	probably damaging	Het
Plin1	T	C	7: 79,726,509	T160A	probably benign	Het
Prox1	T	A	1: 190,147,142	N613I	probably damaging	Het
Ptpn13	A	G	5: 103,561,964	S1498G	probably damaging	Het
Ralbp1	C	T	17: 65,850,104	R598Q	possibly damaging	Het
Robo2	A	C	16: 73,961,747	V712G	probably damaging	Het
Scrn3	T	A	2: 73,335,781	I386N	possibly damaging	Het
Sorl1	T	A	9: 41,991,625	Y1591F	probably benign	Het
Tbr1	T	G	2: 61,807,376	V93G	possibly damaging	Het
Tmem229b	A	G	12: 78,964,809	I116T	probably damaging	Het
Ttn	T	C	2: 76,764,376	Q12115R	possibly damaging	Het
Ube3a	C	T	7: 59,272,024	T48M	probably damaging	Het
Vnn3	A	G	10: 23,867,094	I401V	probably benign	Het
Wdr90	C	T	17: 25,845,856	R1744H	probably damaging	Het
Zc3h7a	T	C	16: 11,148,451	D604G	possibly damaging	Het

Other mutations in Rsl1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Rsl1d1	APN	16	11199694	missense	probably damaging	1.00
IGL01087:Rsl1d1	APN	16	11194675	missense	possibly damaging	0.85
IGL01998:Rsl1d1	APN	16	11194645	missense	possibly damaging	0.79
IGL02077:Rsl1d1	APN	16	11194456	unclassified	probably benign
IGL02627:Rsl1d1	APN	16	11194551	missense	possibly damaging	0.48
R0925:Rsl1d1	UTSW	16	11199689	missense	probably damaging	1.00
R1017:Rsl1d1	UTSW	16	11203252	missense	probably benign
R1671:Rsl1d1	UTSW	16	11201381	missense	probably damaging	1.00
R4658:Rsl1d1	UTSW	16	11201374	missense	probably damaging	1.00
R4915:Rsl1d1	UTSW	16	11199729	splice site	probably null
R5265:Rsl1d1	UTSW	16	11201384	missense	possibly damaging	0.82
R6221:Rsl1d1	UTSW	16	11201311	missense	probably damaging	0.99
R6970:Rsl1d1	UTSW	16	11193694	missense	probably benign	0.06
R7852:Rsl1d1	UTSW	16	11203234	missense	probably benign
R7919:Rsl1d1	UTSW	16	11202433	missense	probably benign	0.18
Z1088:Rsl1d1	UTSW	16	11202385	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGGTTCACAGACACTGGAAC -3'
(R):5'- AGGCCTCTAGCATATTTTAGCTGC -3'

Sequencing Primer
(F):5'- TGGAACTCTATAAAAGCACACAGG -3'
(R):5'- CTCTAGCATATTTTAGCTGCTTAGG -3'

Posted On

2016-10-24