Mutagenetix > Incidental Mutation

Incidental Mutation 'R2865:Luc7l'

253192

Institutional Source

Beutler Lab

Gene Symbol

Luc7l

Ensembl Gene

ENSMUSG00000024188

Gene Name

Luc7-like

Synonyms

2410018D03Rik, 1810045C04Rik

MMRRC Submission

040454-MU

Accession Numbers

Essential gene?

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

Stock #

R2865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26471870-26504478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26485335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 112 (Q112K)

Ref Sequence

ENSEMBL: ENSMUSP00000025023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025023] [ENSMUST00000114976] [ENSMUST00000119928] [ENSMUST00000140427] [ENSMUST00000148894] [ENSMUST00000152107] [ENSMUST00000155151] [ENSMUST00000154235]

AlphaFold

Q9CYI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025023
AA Change: Q112K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025023
Gene: ENSMUSG00000024188
AA Change: Q112K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114976
AA Change: Q112K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110627
Gene: ENSMUSG00000024188
AA Change: Q112K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119928
AA Change: Q112K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113405
Gene: ENSMUSG00000024188
AA Change: Q112K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133032

Predicted Effect

probably damaging
Transcript: ENSMUST00000140427
AA Change: Q26K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122258
Gene: ENSMUSG00000024188
AA Change: Q26K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148894

Predicted Effect

probably benign
Transcript: ENSMUST00000152107

SMART Domains

Protein: ENSMUSP00000119717
Gene: ENSMUSG00000024188

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 damaging
Transcript: ENSMUST00000155151
AA Change: Q59K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120409
Gene: ENSMUSG00000024188
AA Change: Q59K

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	69	7.4e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162696

Predicted Effect

probably benign
Transcript: ENSMUST00000154235

Meta Mutation Damage Score

0.4103

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (30/30)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,635 (GRCm39)	Q30R	unknown	Het
Bmper	A	G	9: 23,395,237 (GRCm39)	N656S	probably benign	Het
Cic	T	A	7: 24,972,646 (GRCm39)	D792E	probably damaging	Het
Dab1	G	A	4: 104,537,343 (GRCm39)	C192Y	probably benign	Het
Ddx6	G	T	9: 44,525,553 (GRCm39)	L103F	probably damaging	Het
Fhod1	T	C	8: 106,059,543 (GRCm39)	K714R	probably null	Het
Flt1	T	C	5: 147,531,431 (GRCm39)	Q844R	possibly damaging	Het
Fnip1	T	C	11: 54,393,250 (GRCm39)	I562T	probably damaging	Het
Fxr2	T	A	11: 69,530,253 (GRCm39)	I40N	probably damaging	Het
Gm7168	A	G	17: 14,170,117 (GRCm39)	K495E	probably benign	Het
Gria2	C	T	3: 80,639,392 (GRCm39)	V207I	probably benign	Het
Ifna6	G	C	4: 88,746,099 (GRCm39)	R149S	probably benign	Het
Ifna6	C	A	4: 88,746,086 (GRCm39)	T145K	probably benign	Het
Igf2r	T	C	17: 12,905,611 (GRCm39)	H2240R	probably damaging	Het
Ighv8-9	G	A	12: 115,432,066 (GRCm39)	P82S	probably benign	Het
Itpr3	T	C	17: 27,310,525 (GRCm39)	V436A	probably benign	Het
Ldb3	T	G	14: 34,251,460 (GRCm39)	D609A	probably damaging	Het
Lgalsl2	G	T	7: 5,362,668 (GRCm39)	D100Y	probably benign	Het
Marchf4	C	T	1: 72,491,734 (GRCm39)	R179H	probably damaging	Het
Myt1l	A	G	12: 29,960,788 (GRCm39)	T75A	probably benign	Het
Or5t9	A	T	2: 86,659,198 (GRCm39)	D34V	probably benign	Het
Or8h10	A	T	2: 86,808,805 (GRCm39)	C112S	possibly damaging	Het
Parp4	C	T	14: 56,851,181 (GRCm39)	T728M	probably damaging	Het
Ppp1r10	A	G	17: 36,239,384 (GRCm39)	T398A	possibly damaging	Het
Ppp4c	A	T	7: 126,391,272 (GRCm39)	I20N	probably damaging	Het
Rph3a	C	T	5: 121,085,990 (GRCm39)	G482D	probably damaging	Het
Rtel1	T	A	2: 180,991,765 (GRCm39)	F388I	probably benign	Het
Slc12a6	G	A	2: 112,177,662 (GRCm39)	V594I	probably benign	Het
Slc2a4	G	A	11: 69,836,942 (GRCm39)	S134F	probably damaging	Het
Tead4	A	T	6: 128,225,062 (GRCm39)		probably null	Het
Usp40	G	A	1: 87,877,701 (GRCm39)	Q1152*	probably null	Het

Other mutations in Luc7l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02054:Luc7l	APN	17	26,498,314 (GRCm39)	utr 3 prime	probably benign
IGL02141:Luc7l	APN	17	26,472,054 (GRCm39)	missense	probably damaging	1.00
R0658:Luc7l	UTSW	17	26,485,296 (GRCm39)	missense	probably damaging	1.00
R1114:Luc7l	UTSW	17	26,494,832 (GRCm39)	splice site	probably benign
R1868:Luc7l	UTSW	17	26,499,030 (GRCm39)	utr 3 prime	probably benign
R2112:Luc7l	UTSW	17	26,474,101 (GRCm39)	critical splice donor site	probably null
R2286:Luc7l	UTSW	17	26,499,020 (GRCm39)	utr 3 prime	probably benign
R2864:Luc7l	UTSW	17	26,485,335 (GRCm39)	missense	probably damaging	1.00
R3040:Luc7l	UTSW	17	26,496,593 (GRCm39)	utr 3 prime	probably benign
R4319:Luc7l	UTSW	17	26,496,593 (GRCm39)	utr 3 prime	probably benign
R4384:Luc7l	UTSW	17	26,498,936 (GRCm39)	splice site	probably benign
R5160:Luc7l	UTSW	17	26,486,271 (GRCm39)	missense	probably benign	0.27
R5330:Luc7l	UTSW	17	26,494,707 (GRCm39)	nonsense	probably null
R5331:Luc7l	UTSW	17	26,494,707 (GRCm39)	nonsense	probably null
R7220:Luc7l	UTSW	17	26,472,219 (GRCm39)	start gained	probably benign
R7418:Luc7l	UTSW	17	26,472,156 (GRCm39)	unclassified	probably benign
R7559:Luc7l	UTSW	17	26,474,089 (GRCm39)	missense	probably damaging	1.00
R8077:Luc7l	UTSW	17	26,474,047 (GRCm39)	missense	probably damaging	1.00
R8203:Luc7l	UTSW	17	26,485,333 (GRCm39)	missense	possibly damaging	0.95
R8895:Luc7l	UTSW	17	26,472,978 (GRCm39)	missense	possibly damaging	0.46
X0026:Luc7l	UTSW	17	26,496,549 (GRCm39)	missense	probably damaging	1.00
Z1088:Luc7l	UTSW	17	26,486,229 (GRCm39)	missense	probably damaging	0.96
Z1177:Luc7l	UTSW	17	26,500,635 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTTGTTCCTGTTACACACATAGG -3'
(R):5'- TCCTGTGACACACAAATGCTTG -3'

Sequencing Primer
(F):5'- ACTGTGAGTTCAAGGCCAGTC -3'
(R):5'- TGTGACACACAAATGCTTGGTCAC -3'

Posted On

2014-12-04