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

2410005K20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

11010901-11021156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11012509 bp (GRCm39)

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
Arpc3	T	C	5: 122,541,470 (GRCm39)	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,743,263 (GRCm39)		probably null	Het
B3gnt8	A	G	7: 25,328,203 (GRCm39)	Y211C	probably damaging	Het
Birc6	T	C	17: 74,886,880 (GRCm39)	I736T	probably benign	Het
Bltp1	T	C	3: 37,011,165 (GRCm39)	S1788P	possibly damaging	Het
Bpifb9a	T	C	2: 154,110,120 (GRCm39)		probably null	Het
C3ar1	A	T	6: 122,827,899 (GRCm39)	M106K	probably damaging	Het
C9orf72	A	T	4: 35,194,179 (GRCm39)	D205E	probably benign	Het
Cab39l	T	A	14: 59,734,344 (GRCm39)	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043 (GRCm39)	I166F	probably damaging	Het
Cd180	A	G	13: 102,841,722 (GRCm39)	E256G	probably damaging	Het
Clca4a	T	C	3: 144,663,887 (GRCm39)	T519A	probably damaging	Het
Clstn3	A	T	6: 124,435,622 (GRCm39)	L233Q	probably damaging	Het
Crlf3	G	A	11: 79,948,845 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,102,495 (GRCm39)		probably benign	Het
Drc7	T	A	8: 95,785,821 (GRCm39)	C226S	probably damaging	Het
Epha5	T	A	5: 84,232,593 (GRCm39)	D807V	probably damaging	Het
Fat2	A	G	11: 55,187,021 (GRCm39)	L1275P	probably benign	Het
Fv1	T	C	4: 147,953,784 (GRCm39)	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,270,709 (GRCm39)	M140I	unknown	Het
Klra5	A	T	6: 129,883,676 (GRCm39)	Y60*	probably null	Het
Lmtk2	C	T	5: 144,112,883 (GRCm39)	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,150,078 (GRCm39)	S917T	probably benign	Het
Ncapd2	A	T	6: 125,146,896 (GRCm39)	L1230H	probably damaging	Het
Nfx1	T	A	4: 41,004,353 (GRCm39)	I708N	probably damaging	Het
Notch2	A	T	3: 98,050,422 (GRCm39)	D1899V	probably damaging	Het
Npepl1	T	A	2: 173,957,993 (GRCm39)		probably benign	Het
Nps	T	A	7: 134,870,481 (GRCm39)		probably benign	Het
Nrg1	T	C	8: 32,408,162 (GRCm39)	S24G	probably damaging	Het
Or1j20	A	G	2: 36,759,658 (GRCm39)	N27D	probably benign	Het
Or2ag16	G	A	7: 106,351,758 (GRCm39)	T279M	possibly damaging	Het
Or2t48	A	T	11: 58,420,403 (GRCm39)	Y136*	probably null	Het
Or4k2	C	A	14: 50,424,105 (GRCm39)	V190L	probably benign	Het
Pigx	G	T	16: 31,903,428 (GRCm39)	T211K	probably benign	Het
Pink1	A	G	4: 138,048,053 (GRCm39)	I223T	probably damaging	Het
Plat	G	A	8: 23,257,163 (GRCm39)	A15T	probably benign	Het
Ptges2	G	A	2: 32,291,542 (GRCm39)	A310T	possibly damaging	Het
Rxfp1	T	C	3: 79,567,403 (GRCm39)	K316E	probably benign	Het
Scn10a	A	G	9: 119,438,742 (GRCm39)	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,729,358 (GRCm39)	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,594,650 (GRCm39)	D170G	probably benign	Het
Spock1	A	T	13: 57,583,994 (GRCm39)		probably benign	Het
Strbp	A	G	2: 37,515,297 (GRCm39)	L243P	probably damaging	Het
Tex55	A	T	16: 38,648,586 (GRCm39)	D174E	probably benign	Het
Tgm5	T	A	2: 120,882,920 (GRCm39)	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,937,431 (GRCm39)	V239I	probably benign	Het
Trav8-1	A	T	14: 53,707,662 (GRCm39)	T101S	probably benign	Het
Triml1	T	C	8: 43,594,350 (GRCm39)	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,349,227 (GRCm39)	E785G	probably benign	Het
Vps13c	A	G	9: 67,862,350 (GRCm39)		probably null	Het
Wwp2	C	T	8: 108,276,153 (GRCm39)	R64C	probably damaging	Het
Zfp608	T	C	18: 55,024,890 (GRCm39)	H1460R	probably damaging	Het

Other mutations in Rsl1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Rsl1d1	APN	16	11,017,558 (GRCm39)	missense	probably damaging	1.00
IGL01087:Rsl1d1	APN	16	11,012,539 (GRCm39)	missense	possibly damaging	0.85
IGL02077:Rsl1d1	APN	16	11,012,320 (GRCm39)	unclassified	probably benign
IGL02627:Rsl1d1	APN	16	11,012,415 (GRCm39)	missense	possibly damaging	0.48
R0925:Rsl1d1	UTSW	16	11,017,553 (GRCm39)	missense	probably damaging	1.00
R1017:Rsl1d1	UTSW	16	11,021,116 (GRCm39)	missense	probably benign
R1671:Rsl1d1	UTSW	16	11,019,245 (GRCm39)	missense	probably damaging	1.00
R4658:Rsl1d1	UTSW	16	11,019,238 (GRCm39)	missense	probably damaging	1.00
R4915:Rsl1d1	UTSW	16	11,017,593 (GRCm39)	splice site	probably null
R5265:Rsl1d1	UTSW	16	11,019,248 (GRCm39)	missense	possibly damaging	0.82
R5545:Rsl1d1	UTSW	16	11,017,514 (GRCm39)	missense	probably damaging	0.99
R6221:Rsl1d1	UTSW	16	11,019,175 (GRCm39)	missense	probably damaging	0.99
R6970:Rsl1d1	UTSW	16	11,011,558 (GRCm39)	missense	probably benign	0.06
R7852:Rsl1d1	UTSW	16	11,021,098 (GRCm39)	missense	probably benign
R7919:Rsl1d1	UTSW	16	11,020,297 (GRCm39)	missense	probably benign	0.18
R8754:Rsl1d1	UTSW	16	11,017,512 (GRCm39)	missense	probably damaging	0.99
R9098:Rsl1d1	UTSW	16	11,019,227 (GRCm39)	missense	probably damaging	1.00
R9500:Rsl1d1	UTSW	16	11,011,385 (GRCm39)	missense	possibly damaging	0.71
R9792:Rsl1d1	UTSW	16	11,017,300 (GRCm39)	missense	possibly damaging	0.57
R9793:Rsl1d1	UTSW	16	11,017,300 (GRCm39)	missense	possibly damaging	0.57
Z1088:Rsl1d1	UTSW	16	11,020,249 (GRCm39)	missense	possibly damaging	0.93

Posted On

2014-05-07