Mutagenetix > Incidental Mutations

Incidental Mutation 'R2286:Luc7l'

243316

Institutional Source

Beutler Lab

Gene Symbol

Luc7l

Ensembl Gene

ENSMUSG00000024188

Gene Name

Luc7-like

Synonyms

MMRRC Submission

040285-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R2286 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26252910-26285504 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 26280046 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117660 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025023] [ENSMUST00000114976] [ENSMUST00000119928] [ENSMUST00000140427] [ENSMUST00000148894] [ENSMUST00000152107] [ENSMUST00000154235]

Predicted Effect

unknown
Transcript: ENSMUST00000025023
AA Change: R298G

SMART Domains

Protein: ENSMUSP00000025023
Gene: ENSMUSG00000024188
AA Change: R298G

Domain	Start	End	E-Value	Type
Pfam:LUC7	4	260	3.1e-95	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000114976
AA Change: R298G

SMART Domains

Protein: ENSMUSP00000110627
Gene: ENSMUSG00000024188
AA Change: R298G

Domain	Start	End	E-Value	Type
Pfam:LUC7	5	249	2.5e-85	PFAM
low complexity region	327	336	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000119928
AA Change: R298G

SMART Domains

Protein: ENSMUSP00000113405
Gene: ENSMUSG00000024188
AA Change: R298G

Domain	Start	End	E-Value	Type
Pfam:LUC7	4	260	3.1e-95	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133032

Predicted Effect

probably benign
Transcript: ENSMUST00000140427

SMART Domains

Protein: ENSMUSP00000122258
Gene: ENSMUSG00000024188

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	168	1.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148894

Predicted Effect

unknown
Transcript: ENSMUST00000152107
AA Change: R97G

SMART Domains

Protein: ENSMUSP00000119717
Gene: ENSMUSG00000024188
AA Change: R97G

Domain	Start	End	E-Value	Type
coiled coil region	8	55	N/A	INTRINSIC
low complexity region	126	135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154235

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a mutant allele producing a truncated product lacked any obvious phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	T	5: 8,145,616	R308H	probably damaging	Het
Alox5ap	G	A	5: 149,285,430		probably null	Het
Ap2s1	T	C	7: 16,748,976	V131A	possibly damaging	Het
Cdr2l	GAA	GA	11: 115,392,800		probably null	Het
Cpsf7	T	C	19: 10,535,296	L248P	probably damaging	Het
Dscr3	C	T	16: 94,512,253	E60K	possibly damaging	Het
Dtd1	T	C	2: 144,635,866		probably null	Het
Eci1	A	G	17: 24,433,229	D75G	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791		probably benign	Het
Med13	A	C	11: 86,319,689	D542E	probably benign	Het
Myo6	T	C	9: 80,266,212	S545P	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Olfr1281	A	G	2: 111,328,907	I163V	probably benign	Het
Rsad2	T	A	12: 26,450,676	N204I	probably benign	Het
Setd5	T	G	6: 113,119,610	N592K	possibly damaging	Het
Sgip1	G	T	4: 102,867,647	S59I	possibly damaging	Het
Slc39a5	A	G	10: 128,396,060	V532A	probably benign	Het
Smarcc2	G	A	10: 128,463,743	M123I	possibly damaging	Het
Tdrd1	A	G	19: 56,839,119	T185A	probably benign	Het
Tnn	T	C	1: 160,110,509	E1146G	possibly damaging	Het
Unc13a	T	C	8: 71,630,559	K1618E	probably damaging	Het
Vmn2r120	A	G	17: 57,508,958	L799P	probably damaging	Het

Other mutations in Luc7l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02054:Luc7l	APN	17	26279340	utr 3 prime	probably benign
IGL02141:Luc7l	APN	17	26253080	missense	probably damaging	1.00
R0658:Luc7l	UTSW	17	26266322	missense	probably damaging	1.00
R1114:Luc7l	UTSW	17	26275858	splice site	probably benign
R1868:Luc7l	UTSW	17	26280056	utr 3 prime	probably benign
R2112:Luc7l	UTSW	17	26255127	critical splice donor site	probably null
R2864:Luc7l	UTSW	17	26266361	missense	probably damaging	1.00
R2865:Luc7l	UTSW	17	26266361	missense	probably damaging	1.00
R3040:Luc7l	UTSW	17	26277619	utr 3 prime	probably benign
R4319:Luc7l	UTSW	17	26277619	utr 3 prime	probably benign
R4384:Luc7l	UTSW	17	26279962	splice site	probably benign
R5160:Luc7l	UTSW	17	26267297	missense	probably benign	0.27
R5330:Luc7l	UTSW	17	26275733	nonsense	probably null
R5331:Luc7l	UTSW	17	26275733	nonsense	probably null
R7220:Luc7l	UTSW	17	26253245	start gained	probably benign
R7418:Luc7l	UTSW	17	26253182	unclassified	probably benign
R7559:Luc7l	UTSW	17	26255115	missense	probably damaging	1.00
R8077:Luc7l	UTSW	17	26255073	missense	probably damaging	1.00
R8203:Luc7l	UTSW	17	26266359	missense	possibly damaging	0.95
X0026:Luc7l	UTSW	17	26277575	missense	probably damaging	1.00
Z1088:Luc7l	UTSW	17	26267255	missense	probably damaging	0.96
Z1177:Luc7l	UTSW	17	26281661	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCCTGAAGGCCAATAGATGCTG -3'
(R):5'- TGCTAGTCACCCAGAACCTG -3'

Sequencing Primer
(F):5'- GGCCAATAGATGCTGAGAGTTG -3'
(R):5'- GTCCCTACCAGATGTAATGGC -3'

Posted On

2014-10-16