Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01998:Rsl1d1'

182942

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: 0.928) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

11192970-11203331 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11194645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 306 (S306P)

Ref Sequence

ENSEMBL: ENSMUSP00000113431 (fasta)

Gene Model

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

AlphaFold

Q8BVY0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119953
AA Change: S306P

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113431
Gene: ENSMUSG00000005846
AA Change: S306P

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

unknown
Transcript: ENSMUST00000230002
AA Change: S190P

Predicted Effect

probably benign
Transcript: ENSMUST00000230232

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	T	4: 35,194,179	D205E	probably benign	Het
4930435E12Rik	A	T	16: 38,828,224	D174E	probably benign	Het
4932438A13Rik	T	C	3: 36,957,016	S1788P	possibly damaging	Het
Arpc3	T	C	5: 122,403,407	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,886,066		probably null	Het
B3gnt8	A	G	7: 25,628,778	Y211C	probably damaging	Het
Birc6	T	C	17: 74,579,885	I736T	probably benign	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
C3ar1	A	T	6: 122,850,940	M106K	probably damaging	Het
Cab39l	T	A	14: 59,496,895	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043	I166F	probably damaging	Het
Cd180	A	G	13: 102,705,214	E256G	probably damaging	Het
Clca4a	T	C	3: 144,958,126	T519A	probably damaging	Het
Clstn3	A	T	6: 124,458,663	L233Q	probably damaging	Het
Crlf3	G	A	11: 80,058,019		probably benign	Het
Depdc5	T	C	5: 32,945,151		probably benign	Het
Drc7	T	A	8: 95,059,193	C226S	probably damaging	Het
Epha5	T	A	5: 84,084,734	D807V	probably damaging	Het
Fat2	A	G	11: 55,296,195	L1275P	probably benign	Het
Fv1	T	C	4: 147,869,327	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,307,089	M140I	unknown	Het
Klra5	A	T	6: 129,906,713	Y60*	probably null	Het
Lmtk2	C	T	5: 144,176,065	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,169,933	L1230H	probably damaging	Het
Ncapd2	A	T	6: 125,173,115	S917T	probably benign	Het
Nfx1	T	A	4: 41,004,353	I708N	probably damaging	Het
Notch2	A	T	3: 98,143,106	D1899V	probably damaging	Het
Npepl1	T	A	2: 174,116,200		probably benign	Het
Nps	T	A	7: 135,268,752		probably benign	Het
Nrg1	T	C	8: 31,918,134	S24G	probably damaging	Het
Olfr330	A	T	11: 58,529,577	Y136*	probably null	Het
Olfr352	A	G	2: 36,869,646	N27D	probably benign	Het
Olfr698	G	A	7: 106,752,551	T279M	possibly damaging	Het
Olfr730	C	A	14: 50,186,648	V190L	probably benign	Het
Pigx	G	T	16: 32,084,610	T211K	probably benign	Het
Pink1	A	G	4: 138,320,742	I223T	probably damaging	Het
Plat	G	A	8: 22,767,147	A15T	probably benign	Het
Ptges2	G	A	2: 32,401,530	A310T	possibly damaging	Het
Rxfp1	T	C	3: 79,660,096	K316E	probably benign	Het
Scn10a	A	G	9: 119,609,676	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,838,532	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,666,929	D170G	probably benign	Het
Spock1	A	T	13: 57,436,181		probably benign	Het
Strbp	A	G	2: 37,625,285	L243P	probably damaging	Het
Tgm5	T	A	2: 121,052,439	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,484,781	V239I	probably benign	Het
Trav8-1	A	T	14: 53,470,205	T101S	probably benign	Het
Triml1	T	C	8: 43,141,313	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,615,300	E785G	probably benign	Het
Vps13c	A	G	9: 67,955,068		probably null	Het
Wwp2	C	T	8: 107,549,521	R64C	probably damaging	Het
Zfp608	T	C	18: 54,891,818	H1460R	probably 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
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
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
R8754:Rsl1d1	UTSW	16	11199648	missense	probably damaging	0.99
R9098:Rsl1d1	UTSW	16	11201363	missense	probably damaging	1.00
R9500:Rsl1d1	UTSW	16	11193521	missense	possibly damaging	0.71
R9792:Rsl1d1	UTSW	16	11199436	missense	possibly damaging	0.57
R9793:Rsl1d1	UTSW	16	11199436	missense	possibly damaging	0.57
Z1088:Rsl1d1	UTSW	16	11202385	missense	possibly damaging	0.93

Posted On

2014-05-07