Mutagenetix > Incidental Mutation

Incidental Mutation 'R0096:Luc7l3'

64074

Institutional Source

Beutler Lab

Gene Symbol

Luc7l3

Ensembl Gene

ENSMUSG00000020863

Gene Name

LUC7-like 3 (S. cerevisiae)

Synonyms

3300001P08Rik

MMRRC Submission

038382-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R0096 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

94181899-94213196 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 94192320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021226] [ENSMUST00000107820] [ENSMUST00000107821] [ENSMUST00000107822] [ENSMUST00000166312]

AlphaFold

Q5SUF2

Predicted Effect

probably benign
Transcript: ENSMUST00000021226

SMART Domains

Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863

Domain	Start	End	E-Value	Type
Pfam:LUC7	3	293	2.3e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107820

SMART Domains

Protein: ENSMUSP00000103450
Gene: ENSMUSG00000020863

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	302	4.2e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107821

SMART Domains

Protein: ENSMUSP00000103451
Gene: ENSMUSG00000020863

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	302	4.2e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107822

Predicted Effect

probably benign
Transcript: ENSMUST00000132623

SMART Domains

Protein: ENSMUSP00000131166
Gene: ENSMUSG00000020863

Domain	Start	End	E-Value	Type
coiled coil region	1	31	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165620

Predicted Effect

probably benign
Transcript: ENSMUST00000166312

SMART Domains

Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	300	7.9e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171033

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.5%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,435,563 (GRCm39)		probably null	Het
Adamts3	G	A	5: 89,849,576 (GRCm39)	Q615*	probably null	Het
Adamtsl3	T	A	7: 82,114,907 (GRCm39)		probably benign	Het
Anks1b	T	C	10: 89,909,924 (GRCm39)	S48P	possibly damaging	Het
Aoc1l2	A	C	6: 48,908,122 (GRCm39)	Q374P	probably damaging	Het
Arfip2	T	A	7: 105,287,437 (GRCm39)	K94N	probably damaging	Het
Arhgap42	G	T	9: 9,009,314 (GRCm39)	N524K	probably damaging	Het
Arhgef28	T	G	13: 98,067,762 (GRCm39)	T1388P	probably damaging	Het
Arid4b	T	C	13: 14,303,779 (GRCm39)	V68A	probably benign	Het
BC005537	T	C	13: 24,989,923 (GRCm39)	F129L	probably damaging	Het
Capn3	A	T	2: 120,333,010 (GRCm39)	H592L	possibly damaging	Het
Dglucy	A	T	12: 100,804,910 (GRCm39)	I134F	possibly damaging	Het
Dhh	T	A	15: 98,791,869 (GRCm39)	M380L	probably benign	Het
Dnai2	A	C	11: 114,645,158 (GRCm39)	D531A	probably benign	Het
Dthd1	A	T	5: 63,000,383 (GRCm39)	R568S	possibly damaging	Het
Efr3a	A	G	15: 65,727,290 (GRCm39)	N613S	probably damaging	Het
Epb41l5	T	A	1: 119,551,641 (GRCm39)		probably benign	Het
Ermp1	A	G	19: 29,608,788 (GRCm39)	Y164H	possibly damaging	Het
Fam120c	CCAGCAGCAGCAGCAGCA	CCAGCAGCAGCAGCA	X: 150,127,341 (GRCm39)		probably benign	Het
Fbrs	C	T	7: 127,088,659 (GRCm39)	A145V	probably damaging	Het
Gm4736	T	C	6: 132,092,569 (GRCm39)		noncoding transcript	Het
Gm9873	A	T	2: 168,863,029 (GRCm39)		noncoding transcript	Het
Grik1	T	C	16: 87,831,114 (GRCm39)	M219V	possibly damaging	Het
Gtsf1l	C	T	2: 162,929,456 (GRCm39)	C9Y	probably damaging	Het
Itih5	G	A	2: 10,256,189 (GRCm39)	R885Q	probably benign	Het
Kdm4c	A	G	4: 74,275,580 (GRCm39)	E752G	probably damaging	Het
Ksr1	A	G	11: 78,929,073 (GRCm39)		probably benign	Het
Lama1	T	A	17: 68,112,408 (GRCm39)	F2283I	probably benign	Het
Lypd8	A	T	11: 58,277,583 (GRCm39)	M122L	probably benign	Het
Map1a	A	G	2: 121,131,986 (GRCm39)	E696G	probably damaging	Het
Mrps34	A	G	17: 25,114,643 (GRCm39)	D110G	probably damaging	Het
Myh11	T	A	16: 14,022,231 (GRCm39)	K1710M	possibly damaging	Het
Myo1d	A	G	11: 80,375,158 (GRCm39)	L972P	probably damaging	Het
Nos1ap	T	C	1: 170,156,816 (GRCm39)	D214G	probably damaging	Het
Or4c119	A	T	2: 88,986,640 (GRCm39)	M293K	probably benign	Het
Or8b46	A	T	9: 38,450,832 (GRCm39)	I214F	probably damaging	Het
Pate4	T	G	9: 35,523,130 (GRCm39)	T5P	probably damaging	Het
Pygl	A	T	12: 70,237,940 (GRCm39)		probably benign	Het
Samd4	A	T	14: 47,301,754 (GRCm39)	M252L	possibly damaging	Het
Serpinb1c	T	A	13: 33,070,266 (GRCm39)		probably benign	Het
Sis	A	T	3: 72,835,600 (GRCm39)	W921R	probably damaging	Het
Skint5	A	T	4: 113,454,965 (GRCm39)		probably benign	Het
Slc27a6	T	C	18: 58,731,829 (GRCm39)		probably benign	Het
Sycp2	G	T	2: 178,045,528 (GRCm39)	Q31K	probably damaging	Het
Taar7f	A	G	10: 23,926,152 (GRCm39)	M249V	probably benign	Het
Tarm1	T	C	7: 3,546,067 (GRCm39)	T79A	probably benign	Het
Tektl1	T	A	10: 78,584,539 (GRCm39)	I328L	probably benign	Het
Trf	A	G	9: 103,099,358 (GRCm39)	F300L	probably damaging	Het
Vmn1r69	T	A	7: 10,313,985 (GRCm39)	I170F	probably damaging	Het
Vmn2r105	A	G	17: 20,447,741 (GRCm39)	F361S	possibly damaging	Het
Vmn2r79	A	G	7: 86,686,527 (GRCm39)	Y636C	probably damaging	Het
Wdr59	T	C	8: 112,231,005 (GRCm39)	N68D	probably damaging	Het
Zfp345	T	A	2: 150,314,220 (GRCm39)	H439L	probably damaging	Het

Other mutations in Luc7l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Luc7l3	APN	11	94,194,768 (GRCm39)	missense	probably benign	0.43
IGL02138:Luc7l3	APN	11	94,194,792 (GRCm39)	missense	probably benign	0.00
IGL02318:Luc7l3	APN	11	94,183,819 (GRCm39)	missense	probably benign	0.05
IGL02479:Luc7l3	APN	11	94,187,735 (GRCm39)	unclassified	probably benign
IGL02563:Luc7l3	APN	11	94,190,894 (GRCm39)	splice site	probably null
veritas	UTSW	11	94,183,779 (GRCm39)	missense	probably damaging	0.98
R0096:Luc7l3	UTSW	11	94,192,320 (GRCm39)	splice site	probably benign
R1706:Luc7l3	UTSW	11	94,188,582 (GRCm39)	splice site	probably benign
R3803:Luc7l3	UTSW	11	94,183,992 (GRCm39)	utr 3 prime	probably benign
R4260:Luc7l3	UTSW	11	94,186,876 (GRCm39)	unclassified	probably benign
R4647:Luc7l3	UTSW	11	94,200,467 (GRCm39)	missense	probably damaging	1.00
R5153:Luc7l3	UTSW	11	94,186,806 (GRCm39)	unclassified	probably benign
R5179:Luc7l3	UTSW	11	94,190,879 (GRCm39)	missense	possibly damaging	0.92
R5591:Luc7l3	UTSW	11	94,184,060 (GRCm39)	unclassified	probably benign
R6767:Luc7l3	UTSW	11	94,183,779 (GRCm39)	missense	probably damaging	0.98
R6912:Luc7l3	UTSW	11	94,200,462 (GRCm39)	missense	probably damaging	0.97
R7168:Luc7l3	UTSW	11	94,190,810 (GRCm39)	missense	unknown
R7541:Luc7l3	UTSW	11	94,186,791 (GRCm39)	missense	unknown
R9029:Luc7l3	UTSW	11	94,188,676 (GRCm39)	missense	unknown
R9154:Luc7l3	UTSW	11	94,190,793 (GRCm39)	missense	unknown
R9236:Luc7l3	UTSW	11	94,186,772 (GRCm39)	missense	unknown
R9620:Luc7l3	UTSW	11	94,212,545 (GRCm39)	missense	unknown
R9663:Luc7l3	UTSW	11	94,187,756 (GRCm39)	missense	unknown
Z1177:Luc7l3	UTSW	11	94,212,601 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACACCCATCAGCAATGTCTGATAACTG -3'
(R):5'- ACTATCTCCGTCCCTGGACTCAAGAG -3'

Sequencing Primer
(F):5'- ccagactggcctggaac -3'
(R):5'- GCTGGTCCAACAGGCAAAAA -3'

Posted On

2013-08-06