Mutagenetix > Incidental Mutation

Incidental Mutation 'R6767:Luc7l3'

531995

Institutional Source

Beutler Lab

Gene Symbol

Luc7l3

Ensembl Gene

ENSMUSG00000020863

Gene Name

LUC7-like 3 (S. cerevisiae)

Synonyms

3300001P08Rik

MMRRC Submission

044883-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6767 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94181899-94213196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 94183779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 453 (D453E)

Ref Sequence

ENSEMBL: ENSMUSP00000021226 (fasta)

Gene Model

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

AlphaFold

Q5SUF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021226
AA Change: D453E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863
AA Change: D453E

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

unknown
Transcript: ENSMUST00000132623
AA Change: D188E

SMART Domains

Protein: ENSMUSP00000131166
Gene: ENSMUSG00000020863
AA Change: D188E

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

Predicted Effect

unknown
Transcript: ENSMUST00000138369
AA Change: D55E

Predicted Effect

unknown
Transcript: ENSMUST00000166312
AA Change: D453E

SMART Domains

Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863
AA Change: D453E

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

Meta Mutation Damage Score

0.1102

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	G	A	8: 44,079,951 (GRCm39)	T91I	probably damaging	Het
Ak7	A	G	12: 105,732,866 (GRCm39)	N537D	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Atp8a2	A	G	14: 60,284,171 (GRCm39)	F47S	probably damaging	Het
Cadps	T	A	14: 12,550,888 (GRCm38)	T449S	probably damaging	Het
Ccdc33	C	G	9: 57,940,527 (GRCm39)	Q489H	possibly damaging	Het
Cd163	T	G	6: 124,281,738 (GRCm39)	S14A	possibly damaging	Het
Cemip	G	A	7: 83,647,832 (GRCm39)	L83F	probably damaging	Het
Chrd	C	T	16: 20,557,376 (GRCm39)	P665L	probably benign	Het
Cib4	T	A	5: 30,691,589 (GRCm39)	H44L	probably benign	Het
Clic1	T	A	17: 35,272,029 (GRCm39)	L99Q	probably benign	Het
Cnst	C	T	1: 179,437,519 (GRCm39)	T361I	possibly damaging	Het
Dnah6	C	A	6: 73,110,591 (GRCm39)	V1613L	probably benign	Het
Dnajb8	T	C	6: 88,199,634 (GRCm39)	S57P	probably damaging	Het
Dyrk3	T	C	1: 131,057,327 (GRCm39)	H282R	probably damaging	Het
Fasn	T	C	11: 120,708,313 (GRCm39)	I651V	possibly damaging	Het
Gas6	A	G	8: 13,515,784 (GRCm39)	S663P	probably damaging	Het
Gbp8	T	C	5: 105,166,478 (GRCm39)	M284V	probably benign	Het
Gm12695	T	C	4: 96,650,933 (GRCm39)		probably null	Het
Gm6034	T	A	17: 36,354,023 (GRCm39)	M1K	probably null	Het
Gm9376	A	G	14: 118,504,648 (GRCm39)	T27A	unknown	Het
Grid2	A	G	6: 63,907,999 (GRCm39)	D213G	probably benign	Het
Gsdma3	A	T	11: 98,528,710 (GRCm39)	D388V	possibly damaging	Het
H4c2	T	A	13: 23,941,005 (GRCm39)	M1K	probably null	Het
Hdac9	T	A	12: 34,337,528 (GRCm39)	H716L	probably damaging	Het
Hivep1	T	C	13: 42,308,203 (GRCm39)	S148P	probably damaging	Het
Kctd1	T	C	18: 15,195,232 (GRCm39)	T464A	possibly damaging	Het
Kera	A	G	10: 97,445,034 (GRCm39)	D131G	possibly damaging	Het
Kif2c	C	T	4: 117,035,385 (GRCm39)	R21Q	probably benign	Het
Mrpl9	A	G	3: 94,357,528 (GRCm39)		probably benign	Het
Mtss1	T	C	15: 58,825,430 (GRCm39)	S257G	probably benign	Het
N4bp2	T	C	5: 65,974,530 (GRCm39)	F1467L	probably damaging	Het
Naa25	T	C	5: 121,577,928 (GRCm39)	V945A	probably damaging	Het
Nrg1	T	C	8: 32,407,923 (GRCm39)	I103M	probably damaging	Het
Or2w1b	C	T	13: 21,300,227 (GRCm39)	R122C	probably benign	Het
Orm3	C	T	4: 63,274,531 (GRCm39)	T32I	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Plch1	A	T	3: 63,662,765 (GRCm39)	M246K	probably damaging	Het
Pld4	A	C	12: 112,730,549 (GRCm39)	D144A	possibly damaging	Het
Prelp	C	A	1: 133,840,448 (GRCm39)	V345L	probably benign	Het
Rnf121	A	G	7: 101,672,619 (GRCm39)	F238L	probably damaging	Het
Rnf40	A	G	7: 127,195,757 (GRCm39)	K667R	possibly damaging	Het
Scgb1b12	A	T	7: 32,033,920 (GRCm39)	N60I	probably damaging	Het
Serpina3n	T	G	12: 104,375,321 (GRCm39)	V131G	probably benign	Het
Slc22a21	T	C	11: 53,870,328 (GRCm39)	Y119C	probably damaging	Het
Slc22a28	A	G	19: 8,094,409 (GRCm39)	F204S	probably damaging	Het
Smc6	T	A	12: 11,321,821 (GRCm39)	D29E	possibly damaging	Het
Smgc	T	A	15: 91,725,601 (GRCm39)	F40Y	possibly damaging	Het
Sorcs3	G	T	19: 48,702,010 (GRCm39)	L630F	probably damaging	Het
Sphk1	A	G	11: 116,426,982 (GRCm39)	K306E	possibly damaging	Het
Spmip2	A	T	3: 79,337,330 (GRCm39)	D46V	probably benign	Het
Spsb1	C	T	4: 149,991,301 (GRCm39)	G89D	probably damaging	Het
Stat4	G	T	1: 52,115,742 (GRCm39)	M227I	probably benign	Het
Syngr4	A	G	7: 45,536,915 (GRCm39)	V116A	possibly damaging	Het
Tacc1	T	C	8: 25,730,816 (GRCm39)	M1V	probably null	Het
Tcf7l1	T	G	6: 72,608,275 (GRCm39)	K355Q	probably damaging	Het
Tmem192	T	C	8: 65,416,888 (GRCm39)	S36P	probably damaging	Het
Top3a	G	T	11: 60,641,579 (GRCm39)	N368K	possibly damaging	Het
Tpk1	T	A	6: 43,323,727 (GRCm39)	I241F	possibly damaging	Het
Trappc10	A	G	10: 78,029,345 (GRCm39)	I1064T	possibly damaging	Het
Vmn1r18	T	A	6: 57,367,206 (GRCm39)	K116M	probably damaging	Het
Vmn2r40	A	T	7: 8,923,139 (GRCm39)	H407Q	unknown	Het
Vmn2r91	T	A	17: 18,327,807 (GRCm39)	L467H	probably damaging	Het
Wdr59	G	T	8: 112,202,733 (GRCm39)	S603R	probably damaging	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp324	A	C	7: 12,704,527 (GRCm39)	K74N	probably null	Het
Zfyve16	A	G	13: 92,644,707 (GRCm39)	L1165P	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
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
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'- TGTTTCTGCCAATGTACCAACAC -3'
(R):5'- CATTAAATCTGAAGGTGACACTCAG -3'

Sequencing Primer
(F):5'- TTCTGCCAATGTACCAACACAAGATG -3'
(R):5'- CACTCAGTCCAATTAAAACTGATCTG -3'

Posted On

2018-08-29