Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02077:Rsl1d1'

186018

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rsl1d1

Ensembl Gene

ENSMUSG00000005846

Gene Name

ribosomal L1 domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.936) question?

Stock #

IGL02077

Quality Score

Status

Chromosome

Chromosomal Location

11192970-11203331 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 11194456 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119953

SMART Domains

Protein: ENSMUSP00000113431
Gene: ENSMUSG00000005846

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: ENSMUST00000121027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181206

Predicted Effect

probably benign
Transcript: ENSMUST00000230002

Predicted Effect

probably benign
Transcript: ENSMUST00000230232

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap11a	G	T	2: 113,837,471	T395K	possibly damaging	Het
Dopey2	T	C	16: 93,780,760	S58P	probably damaging	Het
F5	T	A	1: 164,198,866	V1669E	probably damaging	Het
Fndc7	T	A	3: 108,883,468	T81S	probably benign	Het
Hnf4a	G	T	2: 163,562,607		probably null	Het
Il27	C	T	7: 126,594,879		probably null	Het
Lhcgr	G	A	17: 88,750,130	T311I	probably benign	Het
Mafb	A	G	2: 160,365,767	S304P	probably benign	Het
Mfrp	C	T	9: 44,105,220	T404M	probably damaging	Het
Ntpcr	T	A	8: 125,737,368	Y77*	probably null	Het
Otof	A	G	5: 30,399,235	S301P	probably damaging	Het
Prpf6	G	A	2: 181,640,664	G533R	probably damaging	Het
Prpf8	T	A	11: 75,495,809	H1041Q	probably damaging	Het
Pyurf	T	C	6: 57,689,835	I81V	probably benign	Het
Sema6a	A	T	18: 47,283,398	D387E	possibly damaging	Het
Serpinb3a	T	G	1: 107,046,381	T267P	probably damaging	Het
Tgm7	A	T	2: 121,103,835	M192K	probably damaging	Het
Thbs1	G	T	2: 118,113,110	V70L	probably benign	Het
Thsd7b	T	A	1: 129,816,682	I769N	probably damaging	Het
Tlr9	A	G	9: 106,225,505	Y665C	possibly damaging	Het
Ttn	T	C	2: 76,770,162	D18928G	probably damaging	Het
Uggt1	A	G	1: 36,176,794	S131P	probably damaging	Het
Unc80	A	G	1: 66,525,716	N854S	possibly damaging	Het
Vps13b	A	G	15: 35,910,613	T3508A	possibly damaging	Het
Wdr43	G	A	17: 71,640,291	A381T	probably benign	Het
Zfyve26	A	T	12: 79,276,395	M859K	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
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
R5545:Rsl1d1	UTSW	16	11199650	missense	probably damaging	0.99
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

Posted On

2014-05-07