Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00684:Luc7l2'

12715

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Luc7l2

Ensembl Gene

ENSMUSG00000029823

Gene Name

LUC7-like 2 (S. cerevisiae)

Synonyms

CGI-59, 4930471C18Rik, CGI-74

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

IGL00684

Quality Score

Status

Chromosome

Chromosomal Location

38528269-38586405 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 38585111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057692] [ENSMUST00000160511] [ENSMUST00000161227] [ENSMUST00000161538] [ENSMUST00000162386] [ENSMUST00000163047]

AlphaFold

Q7TNC4

Predicted Effect

unknown
Transcript: ENSMUST00000057692
AA Change: D342G

SMART Domains

Protein: ENSMUSP00000055254
Gene: ENSMUSG00000029823
AA Change: D342G

Domain	Start	End	E-Value	Type
Pfam:LUC7	5	257	6.5e-84	PFAM
low complexity region	269	341	N/A	INTRINSIC
low complexity region	347	370	N/A	INTRINSIC
low complexity region	377	388	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160430

SMART Domains

Protein: ENSMUSP00000124686
Gene: ENSMUSG00000029823

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	211	9.9e-70	PFAM
low complexity region	217	281	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160511

Predicted Effect

unknown
Transcript: ENSMUST00000161227
AA Change: D289G

SMART Domains

Protein: ENSMUSP00000125111
Gene: ENSMUSG00000029823
AA Change: D289G

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	288	6.9e-65	PFAM
low complexity region	294	317	N/A	INTRINSIC
low complexity region	324	335	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161538

SMART Domains

Protein: ENSMUSP00000124010
Gene: ENSMUSG00000029823

Domain	Start	End	E-Value	Type
Pfam:LUC7	4	309	3.3e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162386

Predicted Effect

probably benign
Transcript: ENSMUST00000163047

SMART Domains

Protein: ENSMUSP00000125394
Gene: ENSMUSG00000029823

Domain	Start	End	E-Value	Type
Pfam:LUC7	1	257	3.2e-66	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	G	T	7: 16,295,625 (GRCm39)	R1147S	possibly damaging	Het
Carnmt1	A	G	19: 18,680,746 (GRCm39)	E340G	possibly damaging	Het
Casp8	T	C	1: 58,866,473 (GRCm39)		probably null	Het
Cntnap1	C	T	11: 101,075,918 (GRCm39)	A934V	possibly damaging	Het
Hoxd8	T	C	2: 74,537,110 (GRCm39)	V93A	probably benign	Het
Nup42	C	A	5: 24,387,041 (GRCm39)	A277E	possibly damaging	Het
Sag	A	T	1: 87,752,146 (GRCm39)		probably null	Het
Senp1	A	G	15: 97,962,719 (GRCm39)	S322P	probably damaging	Het
Senp3	A	G	11: 69,564,919 (GRCm39)	V517A	possibly damaging	Het
Shprh	A	G	10: 11,038,781 (GRCm39)	D512G	probably benign	Het
Syne1	T	A	10: 5,342,167 (GRCm38)		probably benign	Het
Tut4	T	C	4: 108,336,663 (GRCm39)	M129T	possibly damaging	Het

Other mutations in Luc7l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Luc7l2	APN	6	38,585,105 (GRCm39)	unclassified	probably benign
IGL00785:Luc7l2	APN	6	38,575,721 (GRCm39)	missense	possibly damaging	0.73
R0004:Luc7l2	UTSW	6	38,566,169 (GRCm39)	missense	probably damaging	1.00
R0304:Luc7l2	UTSW	6	38,569,711 (GRCm39)	missense	probably damaging	0.98
R1820:Luc7l2	UTSW	6	38,575,754 (GRCm39)	splice site	probably null
R2223:Luc7l2	UTSW	6	38,542,659 (GRCm39)	intron	probably benign
R3815:Luc7l2	UTSW	6	38,547,526 (GRCm39)	missense	possibly damaging	0.83
R5016:Luc7l2	UTSW	6	38,562,036 (GRCm39)	missense	possibly damaging	0.54
R7583:Luc7l2	UTSW	6	38,528,820 (GRCm39)	missense	probably damaging	0.98
R7655:Luc7l2	UTSW	6	38,580,399 (GRCm39)	missense	unknown
R7656:Luc7l2	UTSW	6	38,580,399 (GRCm39)	missense	unknown
R7722:Luc7l2	UTSW	6	38,580,243 (GRCm39)	missense	unknown
R7761:Luc7l2	UTSW	6	38,531,999 (GRCm39)	critical splice donor site	probably null
R8105:Luc7l2	UTSW	6	38,569,588 (GRCm39)	missense	probably benign	0.29
R9222:Luc7l2	UTSW	6	38,542,633 (GRCm39)	missense	probably benign
R9420:Luc7l2	UTSW	6	38,547,489 (GRCm39)	missense	probably damaging	1.00
R9544:Luc7l2	UTSW	6	38,580,315 (GRCm39)	missense	unknown
Z1088:Luc7l2	UTSW	6	38,580,304 (GRCm39)	utr 3 prime	probably benign
Z1176:Luc7l2	UTSW	6	38,528,843 (GRCm39)	nonsense	probably null

Posted On

2012-12-06