Mutagenetix > Incidental Mutation

Incidental Mutation 'R9663:Luc7l3'

727704

Institutional Source

Beutler Lab

Gene Symbol

Luc7l3

Ensembl Gene

ENSMUSG00000020863

Gene Name

LUC7-like 3 (S. cerevisiae)

Synonyms

3300001P08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R9663 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94181899-94213196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94187756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 311 (S311P)

Ref Sequence

ENSEMBL: ENSMUSP00000021226 (fasta)

Gene Model

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

AlphaFold

Q5SUF2

Predicted Effect

unknown
Transcript: ENSMUST00000021226
AA Change: S311P

SMART Domains

Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863
AA Change: S311P

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

Predicted Effect

unknown
Transcript: ENSMUST00000107820
AA Change: S311P

SMART Domains

Protein: ENSMUSP00000103450
Gene: ENSMUSG00000020863
AA Change: S311P

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

Predicted Effect

unknown
Transcript: ENSMUST00000107821
AA Change: S311P

SMART Domains

Protein: ENSMUSP00000103451
Gene: ENSMUSG00000020863
AA Change: S311P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107822

Predicted Effect

SMART Domains

Protein: ENSMUSP00000131166
Gene: ENSMUSG00000020863
AA Change: S46P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138369

Predicted Effect

unknown
Transcript: ENSMUST00000166312
AA Change: S311P

SMART Domains

Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863
AA Change: S311P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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 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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh6	T	C	7: 30,013,371 (GRCm39)	S161P	probably damaging	Het
Alppl2	T	A	1: 87,015,753 (GRCm39)	H297L	probably benign	Het
Angptl2	A	G	2: 33,118,231 (GRCm39)	R2G	probably benign	Het
Arhgef15	T	A	11: 68,845,255 (GRCm39)	N199I	probably damaging	Het
Asns	A	T	6: 7,680,132 (GRCm39)	I328K	probably damaging	Het
Atad2	G	T	15: 57,971,540 (GRCm39)	T734K	probably benign	Het
Capn3	A	C	2: 120,316,859 (GRCm39)	M283L	probably benign	Het
Catsperd	T	A	17: 56,960,751 (GRCm39)	C384S	possibly damaging	Het
Cd101	A	G	3: 100,911,222 (GRCm39)	V816A	probably benign	Het
Cd5	T	G	19: 10,703,858 (GRCm39)	D68A	probably benign	Het
Ceacam18	G	A	7: 43,288,764 (GRCm39)	V172M	probably damaging	Het
Cfap100	G	A	6: 90,386,328 (GRCm39)	R276C		Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Creb3l2	A	G	6: 37,356,926 (GRCm39)	V47A	probably damaging	Het
Crebbp	T	A	16: 3,933,654 (GRCm39)	E1017D	probably damaging	Het
Cttn	T	C	7: 144,011,461 (GRCm39)	D116G	probably damaging	Het
Cyp2c65	A	G	19: 39,079,070 (GRCm39)		probably null	Het
Dcaf13	C	T	15: 38,982,178 (GRCm39)	T48I	possibly damaging	Het
Dsc2	T	A	18: 20,171,205 (GRCm39)	D598V	probably damaging	Het
Dtx3	G	A	10: 127,028,518 (GRCm39)	T237I	probably damaging	Het
E130308A19Rik	A	G	4: 59,719,764 (GRCm39)	E432G	possibly damaging	Het
Eps15	G	A	4: 109,179,270 (GRCm39)	V219I	probably benign	Het
Ext1	A	G	15: 53,208,456 (GRCm39)	S102P	probably damaging	Het
Fam151a	A	T	4: 106,604,894 (GRCm39)	I419L	possibly damaging	Het
Fam89a	C	T	8: 125,478,436 (GRCm39)	G38D	probably damaging	Het
Fdx2	G	T	9: 20,984,717 (GRCm39)	A29E	probably benign	Het
Hhla1	G	A	15: 65,813,630 (GRCm39)	T234I	probably damaging	Het
Hspb6	G	A	7: 30,253,714 (GRCm39)	V76M	probably damaging	Het
Ighmbp2	C	A	19: 3,315,325 (GRCm39)	K698N	probably benign	Het
Invs	A	G	4: 48,426,218 (GRCm39)	I1002V	probably damaging	Het
Itga8	A	C	2: 12,196,580 (GRCm39)	F612L	probably benign	Het
Kcnma1	G	T	14: 24,053,897 (GRCm39)	F99L	probably benign	Het
Klf11	A	G	12: 24,705,731 (GRCm39)	Y395C	probably damaging	Het
Kplce	A	T	3: 92,776,283 (GRCm39)	N133K	probably benign	Het
Lama4	G	A	10: 38,923,944 (GRCm39)	E451K	probably damaging	Het
Lrr1	A	G	12: 69,221,884 (GRCm39)	Y342C	probably damaging	Het
Lrrc18	A	T	14: 32,731,021 (GRCm39)	M187L	probably benign	Het
Lypd3	T	A	7: 24,338,349 (GRCm39)	S133R	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mug1	T	A	6: 121,859,699 (GRCm39)	S1233T	probably benign	Het
Mug1	A	T	6: 121,857,463 (GRCm39)	E1062D	probably benign	Het
Myh7	T	C	14: 55,221,098 (GRCm39)	K942E	probably damaging	Het
Nedd9	T	C	13: 41,469,941 (GRCm39)	D404G	probably damaging	Het
Nisch	C	A	14: 30,895,625 (GRCm39)	A1022S	probably damaging	Het
Nkx3-1	A	G	14: 69,429,321 (GRCm39)	D113G	probably benign	Het
Or1ad6	T	C	11: 50,860,165 (GRCm39)	F107L	probably benign	Het
Or6c1b	A	T	10: 129,272,929 (GRCm39)	I83F	probably damaging	Het
Or6c215	A	G	10: 129,637,497 (GRCm39)	F299S	probably benign	Het
Otub1	C	T	19: 7,176,813 (GRCm39)	G181D	probably damaging	Het
Palb2	T	C	7: 121,726,304 (GRCm39)	H522R	probably benign	Het
Pfpl	A	T	19: 12,407,459 (GRCm39)	D570V	probably damaging	Het
Phyhd1	A	G	2: 30,171,070 (GRCm39)	N271S	probably damaging	Het
Ptprm	T	C	17: 67,498,291 (GRCm39)	Q50R	probably benign	Het
Rfx2	C	A	17: 57,087,895 (GRCm39)	V499L	possibly damaging	Het
Sema5a	C	T	15: 32,673,546 (GRCm39)	Q795*	probably null	Het
Sf3a2	A	G	10: 80,637,309 (GRCm39)	N49S	probably damaging	Het
Sft2d1	T	G	17: 8,545,812 (GRCm39)	S156A	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc25a33	T	A	4: 149,836,913 (GRCm39)	T144S	probably benign	Het
Slc7a13	A	T	4: 19,818,818 (GRCm39)	K6M	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Tfap2c	G	A	2: 172,399,213 (GRCm39)	D487N	probably damaging	Het
Thbs1	G	A	2: 117,949,897 (GRCm39)	R624Q	probably damaging	Het
Thsd4	A	G	9: 59,890,026 (GRCm39)	F857S	probably damaging	Het
Tnfrsf4	A	G	4: 156,100,884 (GRCm39)	I272V	probably benign	Het
Trak1	C	T	9: 121,220,924 (GRCm39)	R45C	probably benign	Het
Trpm2	A	G	10: 77,756,320 (GRCm39)	S1167P	probably benign	Het
Ttc14	A	T	3: 33,855,537 (GRCm39)	T161S	probably benign	Het
Ttll1	A	G	15: 83,380,579 (GRCm39)	V262A	possibly damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ufsp1	C	A	5: 137,293,545 (GRCm39)	P165Q	possibly damaging	Het
Usp19	T	G	9: 108,371,894 (GRCm39)	L390R	probably damaging	Het
Vegfc	G	T	8: 54,634,338 (GRCm39)	C339F	probably damaging	Het
Vmn2r6	A	T	3: 64,463,549 (GRCm39)	N428K	possibly damaging	Het
Wdr11	T	G	7: 129,210,647 (GRCm39)	V517G	probably damaging	Het
Xkr4	T	A	1: 3,286,519 (GRCm39)	D557V	probably benign	Het
Zan	C	A	5: 137,379,119 (GRCm39)	C5327F	unknown	Het
Zfp770	A	T	2: 114,026,949 (GRCm39)	N373K	probably benign	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
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
Z1177:Luc7l3	UTSW	11	94,212,601 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CATCTCTGCAGGGTACTATGTC -3'
(R):5'- ACCTGATCGGGATGAACGTC -3'

Sequencing Primer
(F):5'- CTGCAGGGTACTATGTCAATATGAG -3'
(R):5'- GAGAAGCAAGAAAGAGAGGAAAG -3'

Posted On

2022-10-06