Mutagenetix > Incidental Mutation

Incidental Mutation 'R0658:Luc7l'

62629

Institutional Source

Beutler Lab

Gene Symbol

Luc7l

Ensembl Gene

ENSMUSG00000024188

Gene Name

Luc7-like

Synonyms

2410018D03Rik, 1810045C04Rik

MMRRC Submission

038843-MU

Accession Numbers

Essential gene?

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

Stock #

R0658 (G1)

Quality Score

120

Status

Validated

Chromosome

Chromosomal Location

26471870-26504478 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26485296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 99 (R99W)

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: R99W

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

SMART Domains

Protein: ENSMUSP00000025023
Gene: ENSMUSG00000024188
AA Change: R99W

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114976
AA Change: R99W

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110627
Gene: ENSMUSG00000024188
AA Change: R99W

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119928
AA Change: R99W

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113405
Gene: ENSMUSG00000024188
AA Change: R99W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133032

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140427
AA Change: R13W

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122258
Gene: ENSMUSG00000024188
AA Change: R13W

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

possibly damaging
Transcript: ENSMUST00000155151
AA Change: R46W

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120409
Gene: ENSMUSG00000024188
AA Change: R46W

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

0.8028

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

99% (78/79)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,965,827 (GRCm39)		probably null	Het
Acsl3	A	G	1: 78,679,004 (GRCm39)	D520G	probably damaging	Het
Adgrl3	T	C	5: 81,796,560 (GRCm39)	V623A	probably benign	Het
Ak9	G	T	10: 41,223,218 (GRCm39)	V454L	probably damaging	Het
Alpk2	C	A	18: 65,482,558 (GRCm39)	K483N	probably damaging	Het
Arhgef12	T	C	9: 42,893,281 (GRCm39)	Y974C	probably damaging	Het
Armc8	C	T	9: 99,418,211 (GRCm39)		probably benign	Het
Atp2a2	C	T	5: 122,595,696 (GRCm39)		probably benign	Het
Atrn	T	C	2: 130,812,147 (GRCm39)		probably null	Het
Caps2	T	A	10: 112,039,943 (GRCm39)		probably benign	Het
Cep76	A	G	18: 67,756,374 (GRCm39)	S486P	probably damaging	Het
Cep97	C	T	16: 55,735,265 (GRCm39)	R583H	probably benign	Het
Cog7	A	G	7: 121,555,363 (GRCm39)		probably benign	Het
Commd5	T	A	15: 76,784,768 (GRCm39)	V55E	probably damaging	Het
Csmd3	A	T	15: 47,874,543 (GRCm39)	D684E	possibly damaging	Het
Ctxn2	T	C	2: 124,989,376 (GRCm39)	M1T	probably null	Het
Exph5	A	G	9: 53,288,775 (GRCm39)	D1952G	unknown	Het
Fmo2	A	T	1: 162,704,343 (GRCm39)	L521Q	possibly damaging	Het
Fryl	T	A	5: 73,222,702 (GRCm39)	T1960S	probably damaging	Het
G6pd2	T	C	5: 61,967,017 (GRCm39)	L264P	probably damaging	Het
Gne	A	T	4: 44,039,033 (GRCm39)	V647E	possibly damaging	Het
Grb14	G	A	2: 64,745,071 (GRCm39)	Q96*	probably null	Het
Gtf3c1	A	G	7: 125,298,134 (GRCm39)	F146L	probably damaging	Het
Gvin3	C	A	7: 106,202,093 (GRCm39)	V384L	possibly damaging	Het
Irak2	A	G	6: 113,615,525 (GRCm39)	Y6C	probably damaging	Het
Kel	T	A	6: 41,679,965 (GRCm39)	N75I	probably damaging	Het
Lgr4	T	A	2: 109,842,132 (GRCm39)	F706I	possibly damaging	Het
Lox	A	T	18: 52,661,955 (GRCm39)	S149R	probably benign	Het
Lrrc66	T	G	5: 73,768,287 (GRCm39)	D218A	probably benign	Het
Megf10	T	C	18: 57,385,968 (GRCm39)	V327A	probably benign	Het
Mthfd1l	G	T	10: 3,997,976 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myh8	G	T	11: 67,175,358 (GRCm39)		probably null	Het
Or5b109	A	T	19: 13,212,424 (GRCm39)	D270V	possibly damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pgf	C	T	12: 85,216,159 (GRCm39)	R153K	probably benign	Het
Pramel12	A	T	4: 143,144,170 (GRCm39)	Q172L	probably damaging	Het
Prdm2	A	G	4: 142,861,835 (GRCm39)	V485A	probably damaging	Het
Rag1	T	C	2: 101,473,028 (GRCm39)	T705A	probably damaging	Het
Rflna	A	C	5: 125,080,774 (GRCm39)	D48A	possibly damaging	Het
Rnf148	A	T	6: 23,654,456 (GRCm39)	I180N	probably damaging	Het
Rtn4	T	A	11: 29,656,475 (GRCm39)	S94T	probably damaging	Het
Scn11a	G	A	9: 119,640,226 (GRCm39)	T223I	probably benign	Het
Scube2	T	A	7: 109,436,327 (GRCm39)		probably benign	Het
Septin14	T	C	5: 129,774,972 (GRCm39)	I68V	probably benign	Het
Sil1	A	T	18: 35,399,910 (GRCm39)	L365Q	possibly damaging	Het
Sirt1	A	G	10: 63,157,515 (GRCm39)		probably benign	Het
Slc9a1	T	C	4: 133,147,810 (GRCm39)		probably benign	Het
Smpdl3a	A	G	10: 57,687,336 (GRCm39)	T355A	probably damaging	Het
Syne2	T	C	12: 76,141,110 (GRCm39)	I6074T	probably damaging	Het
Thbs2	T	A	17: 14,900,587 (GRCm39)	H540L	probably benign	Het
Tsc22d4	T	C	5: 137,766,283 (GRCm39)	S450P	probably benign	Het
Tshr	C	A	12: 91,505,000 (GRCm39)	S54*	probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Uncx	G	T	5: 139,529,942 (GRCm39)	C65F	probably damaging	Het
Vmn1r87	A	T	7: 12,865,756 (GRCm39)	M177K	probably damaging	Het
Vmn2r56	A	T	7: 12,444,235 (GRCm39)	C466S	probably benign	Het
Wnk1	G	A	6: 119,925,466 (GRCm39)	P1831S	probably damaging	Het
Zfp820	T	C	17: 22,037,901 (GRCm39)	S476G	probably benign	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
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
R2865: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'- TCAGCTCATGCTGTCACTACAAATACC -3'
(R):5'- ATGCTTGGTCACAGACCCTGTCTC -3'

Sequencing Primer
(F):5'- gcacacctttcatccagcac -3'
(R):5'- GTCACAGACCCTGTCTCCAATG -3'

Posted On

2013-07-30