Mutagenetix > Incidental Mutation

Incidental Mutation 'R1017:Rsl1d1'

226008

Institutional Source

Beutler Lab

Gene Symbol

Rsl1d1

Ensembl Gene

ENSMUSG00000005846

Gene Name

ribosomal L1 domain containing 1

Synonyms

2410005K20Rik

MMRRC Submission

039121-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R1017 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

11010901-11021156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11021116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 2 (K2E)

Ref Sequence

ENSEMBL: ENSMUSP00000113431 (fasta)

Gene Model

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

AlphaFold

Q8BVY0

Predicted Effect

probably benign
Transcript: ENSMUST00000119953
AA Change: K2E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113431
Gene: ENSMUSG00000005846
AA Change: K2E

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: ENSMUST00000181526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229756

Predicted Effect

unknown
Transcript: ENSMUST00000230002
AA Change: K1E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230166

Predicted Effect

probably benign
Transcript: ENSMUST00000230232

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230245

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	C	T	6: 125,038,223 (GRCm39)		probably benign	Het
Ahnak	A	T	19: 8,987,907 (GRCm39)	I3064F	probably damaging	Het
Arhgef10l	C	A	4: 140,242,617 (GRCm39)	R884L	probably damaging	Het
Baiap2l2	A	G	15: 79,145,443 (GRCm39)	F317L	probably benign	Het
Brinp2	A	T	1: 158,077,021 (GRCm39)	I358N	probably damaging	Het
Ccin	A	G	4: 43,985,222 (GRCm39)	D543G	probably benign	Het
Cdh23	T	A	10: 60,167,572 (GRCm39)	D1806V	probably damaging	Het
Cdh6	C	T	15: 13,051,562 (GRCm39)	R357Q	probably benign	Het
Cpa3	T	C	3: 20,293,797 (GRCm39)	M64V	possibly damaging	Het
Ctnnb1	T	A	9: 120,779,794 (GRCm39)	F74I	probably damaging	Het
Cyp7a1	A	T	4: 6,272,307 (GRCm39)	I302N	probably damaging	Het
Dnase1l2	C	T	17: 24,661,446 (GRCm39)	A56T	probably benign	Het
Dscam	T	A	16: 96,634,633 (GRCm39)	D190V	probably damaging	Het
Fer1l4	T	C	2: 155,891,398 (GRCm39)		probably null	Het
Fscb	T	A	12: 64,520,242 (GRCm39)	D408V	probably benign	Het
Gm10306	A	G	4: 94,444,957 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,765,803 (GRCm39)	M409K	probably benign	Het
Gsx2	T	C	5: 75,237,923 (GRCm39)	S292P	probably damaging	Het
Hira	T	A	16: 18,718,097 (GRCm39)		probably null	Het
Hoxa3	G	T	6: 52,149,386 (GRCm39)		probably null	Het
Irak3	T	C	10: 119,978,789 (GRCm39)	E554G	possibly damaging	Het
Itgb3bp	A	G	4: 99,657,724 (GRCm39)		probably benign	Het
Kifc3	C	T	8: 95,832,413 (GRCm39)	D379N	probably damaging	Het
Lama5	A	G	2: 179,837,213 (GRCm39)	V1032A	probably damaging	Het
Lmln	T	G	16: 32,908,546 (GRCm39)	I324R	probably benign	Het
Ltbp4	A	G	7: 27,005,501 (GRCm39)	S1547P	possibly damaging	Het
Mdga1	T	A	17: 30,069,522 (GRCm39)	T175S	probably damaging	Het
Mrps6	T	A	16: 91,855,346 (GRCm39)	L8*	probably null	Het
Mtmr11	A	C	3: 96,071,794 (GRCm39)	T203P	probably damaging	Het
Nat8f7	T	C	6: 85,684,552 (GRCm39)	D96G	probably damaging	Het
Obscn	T	C	11: 58,889,179 (GRCm39)	E7531G	unknown	Het
Or2k2	A	T	4: 58,785,115 (GRCm39)	S202R	probably damaging	Het
Or8k25	A	T	2: 86,243,855 (GRCm39)	D180E	probably damaging	Het
Or8k27	A	T	2: 86,275,772 (GRCm39)	L185I	probably benign	Het
Osbpl6	A	G	2: 76,380,063 (GRCm39)	Y69C	probably damaging	Het
Polrmt	C	T	10: 79,579,343 (GRCm39)	W136*	probably null	Het
Raver1	T	C	9: 20,990,886 (GRCm39)		probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Sik3	C	T	9: 46,107,107 (GRCm39)	T417I	probably benign	Het
Spdl1	T	C	11: 34,710,117 (GRCm39)	K388R	possibly damaging	Het
Tulp1	T	C	17: 28,583,277 (GRCm39)	R88G	probably damaging	Het
Vldlr	A	C	19: 27,218,733 (GRCm39)	Y528S	probably damaging	Het
Zdhhc14	T	A	17: 5,543,924 (GRCm39)	L68H	probably damaging	Het
Zfp605	C	T	5: 110,275,860 (GRCm39)	T326I	probably benign	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
IGL01998:Rsl1d1	APN	16	11,012,509 (GRCm39)	missense	possibly damaging	0.79
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
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

Predicted Primers

PCR Primer
(F):5'- ACGGACACATGACCTGTGATGC -3'
(R):5'- AAGGAGATGCTGCCGCTAGAATAAC -3'

Sequencing Primer
(F):5'- TTTCCACAGGAGGCAAACAG -3'
(R):5'- TAACTCTGGGCACAGTCTACG -3'

Posted On

2014-08-29