Mutagenetix > Incidental Mutation

Incidental Mutation 'R8105:Luc7l2'

630685

Institutional Source

Beutler Lab

Gene Symbol

Luc7l2

Ensembl Gene

ENSMUSG00000029823

Gene Name

LUC7-like 2 (S. cerevisiae)

Synonyms

CGI-59, 4930471C18Rik, CGI-74

MMRRC Submission

067536-MU

Accession Numbers

Essential gene?

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

Stock #

R8105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38528269-38586405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38569588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 182 (F182S)

Ref Sequence

ENSEMBL: ENSMUSP00000055254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057692] [ENSMUST00000159936] [ENSMUST00000160511] [ENSMUST00000161227] [ENSMUST00000161538] [ENSMUST00000162386] [ENSMUST00000163047]

AlphaFold

Q7TNC4

Predicted Effect

probably benign
Transcript: ENSMUST00000057692
AA Change: F182S

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055254
Gene: ENSMUSG00000029823
AA Change: F182S

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

probably benign
Transcript: ENSMUST00000159936

Predicted Effect

probably benign
Transcript: ENSMUST00000160511

Predicted Effect

probably benign
Transcript: ENSMUST00000161227
AA Change: F129S

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125111
Gene: ENSMUSG00000029823
AA Change: F129S

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
AA Change: F182S

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124010
Gene: ENSMUSG00000029823
AA Change: F182S

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
AA Change: F129S

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125394
Gene: ENSMUSG00000029823
AA Change: F129S

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

Meta Mutation Damage Score

0.3811

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (29/29)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid1b	G	A	17: 5,341,518 (GRCm39)	A941T	possibly damaging	Het
Calb1	A	T	4: 15,900,767 (GRCm39)		probably null	Het
Cc2d1b	T	C	4: 108,485,130 (GRCm39)	S518P	possibly damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cltc	C	T	11: 86,598,438 (GRCm39)	V975I	probably damaging	Het
Cntn4	T	C	6: 106,330,567 (GRCm39)	W62R	probably damaging	Het
Crot	A	G	5: 9,027,505 (GRCm39)	Y276H	probably damaging	Het
Dnah5	T	C	15: 28,372,548 (GRCm39)	V2933A	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Fhod1	T	C	8: 106,063,847 (GRCm39)	T253A	unknown	Het
Fndc3b	G	A	3: 27,524,374 (GRCm39)	T462I	probably benign	Het
Folh1	A	T	7: 86,395,354 (GRCm39)	N359K	probably damaging	Het
Gmppa	T	C	1: 75,413,641 (GRCm39)	V34A	possibly damaging	Het
Ift140	A	G	17: 25,255,949 (GRCm39)	T484A	probably benign	Het
Lrrtm2	T	C	18: 35,346,510 (GRCm39)	E264G	probably damaging	Het
Ly9	G	C	1: 171,432,890 (GRCm39)		probably null	Het
Meox2	C	T	12: 37,159,061 (GRCm39)	H78Y	possibly damaging	Het
Mynn	G	A	3: 30,665,628 (GRCm39)	C420Y	possibly damaging	Het
Or52e18	C	G	7: 104,609,629 (GRCm39)	M103I	probably benign	Het
Rfx1	C	G	8: 84,814,505 (GRCm39)	A358G	possibly damaging	Het
Rnf151	G	A	17: 24,935,400 (GRCm39)	T177I	probably benign	Het
Spef2	T	G	15: 9,682,748 (GRCm39)	N578H	probably benign	Het
Stpg2	A	G	3: 138,948,925 (GRCm39)	I240M	probably damaging	Het
Tln1	C	T	4: 43,538,231 (GRCm39)	V1824I	probably benign	Het
Ugt3a1	T	A	15: 9,306,476 (GRCm39)	F208L	probably benign	Het
Vldlr	C	T	19: 27,216,204 (GRCm39)	Q342*	probably null	Het
Vmn1r14	T	A	6: 57,211,245 (GRCm39)	F274L	probably benign	Het
Xrcc6	T	C	15: 81,915,352 (GRCm39)	L435P	probably 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
IGL00684:Luc7l2	APN	6	38,585,111 (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
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

Predicted Primers

PCR Primer
(F):5'- TTGGCATCACAGGGAGATGG -3'
(R):5'- GCCTTATCAATGAAACCGAGGGG -3'

Sequencing Primer
(F):5'- TGGAATGTAAAGGATAGTTTAAGCC -3'
(R):5'- GACCAAAAGAATCAGGTTACGC -3'

Posted On

2020-06-30