Mutagenetix > Incidental Mutation

Incidental Mutation 'R6912:Luc7l3'

539105

Institutional Source

Beutler Lab

Gene Symbol

Luc7l3

Ensembl Gene

ENSMUSG00000020863

Gene Name

LUC7-like 3 (S. cerevisiae)

Synonyms

3300001P08Rik

MMRRC Submission

045004-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6912 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94181899-94213196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94200462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 52 (R52H)

Ref Sequence

ENSEMBL: ENSMUSP00000129919 (fasta)

Gene Model

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

AlphaFold

Q5SUF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021226
AA Change: R52H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863
AA Change: R52H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107820
AA Change: R52H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103450
Gene: ENSMUSG00000020863
AA Change: R52H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000107821
AA Change: R52H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103451
Gene: ENSMUSG00000020863
AA Change: R52H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107822

Predicted Effect

probably damaging
Transcript: ENSMUST00000166312
AA Change: R52H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863
AA Change: R52H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (79/79)

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
4931406B18Rik	G	A	7: 43,150,571 (GRCm39)	T67I	possibly damaging	Het
Abca5	A	T	11: 110,197,106 (GRCm39)	M524K	probably benign	Het
Aco2	G	A	15: 81,779,597 (GRCm39)	V134I	probably benign	Het
Acsf2	C	T	11: 94,461,206 (GRCm39)	M323I	probably benign	Het
Acvr1	T	C	2: 58,337,585 (GRCm39)	D499G	probably benign	Het
Armc5	G	A	7: 127,839,597 (GRCm39)	C305Y	probably damaging	Het
Astl	T	C	2: 127,198,306 (GRCm39)	I286T	probably benign	Het
Atp8a2	G	A	14: 60,249,859 (GRCm39)	S544L	probably benign	Het
Bbs7	G	T	3: 36,659,853 (GRCm39)	A194E	probably benign	Het
Brca2	A	G	5: 150,465,207 (GRCm39)	D1657G	probably damaging	Het
Cfap46	G	A	7: 139,219,616 (GRCm39)	S1283L	probably benign	Het
Creld2	T	C	15: 88,704,200 (GRCm39)	S64P	probably damaging	Het
Crtc1	T	C	8: 70,850,961 (GRCm39)	E217G	probably damaging	Het
Cyp2d26	C	T	15: 82,675,320 (GRCm39)	V345M	probably benign	Het
Cyp2j11	T	C	4: 96,183,108 (GRCm39)	M487V	probably benign	Het
Dnah12	T	C	14: 26,600,036 (GRCm39)	I3692T	probably damaging	Het
Dnah14	A	T	1: 181,577,748 (GRCm39)	T3022S	possibly damaging	Het
Dtnb	A	T	12: 3,698,221 (GRCm39)		probably null	Het
Erf	T	C	7: 24,944,003 (GRCm39)	T443A	possibly damaging	Het
Ermp1	T	A	19: 29,594,011 (GRCm39)	I720F	probably benign	Het
Fam83b	T	A	9: 76,398,214 (GRCm39)	E963V	probably damaging	Het
Fat1	T	A	8: 45,504,060 (GRCm39)	S4463T	probably benign	Het
Fbxw27	T	A	9: 109,617,148 (GRCm39)	K118*	probably null	Het
Fcgbp	A	T	7: 27,789,129 (GRCm39)	Y565F	probably benign	Het
Garre1	A	G	7: 33,945,093 (GRCm39)	S384P	probably benign	Het
Gm128	A	T	3: 95,147,740 (GRCm39)	S185T	probably benign	Het
Gm6309	C	T	5: 146,105,640 (GRCm39)	E175K	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	T	C	14: 33,916,597 (GRCm39)	Y391C	probably damaging	Het
Hexa	T	C	9: 59,447,221 (GRCm39)	L72P	probably damaging	Het
Il31ra	T	A	13: 112,685,998 (GRCm39)	D124V	probably damaging	Het
Kdm2a	C	T	19: 4,372,529 (GRCm39)	A939T	probably benign	Het
Kif16b	A	G	2: 142,542,019 (GRCm39)		probably benign	Het
Kndc1	A	T	7: 139,490,194 (GRCm39)	D232V	probably damaging	Het
Lrrc37a	T	G	11: 103,348,369 (GRCm39)	R2775S	unknown	Het
Mapk15	A	T	15: 75,865,747 (GRCm39)	R13S	probably damaging	Het
Mdga2	G	T	12: 66,552,889 (GRCm39)	Q187K	probably benign	Het
Mfsd2b	G	A	12: 4,920,611 (GRCm39)	Q69*	probably null	Het
Mlph	A	T	1: 90,873,342 (GRCm39)	D551V	probably damaging	Het
Mup5	A	T	4: 61,752,806 (GRCm39)	F72L	probably benign	Het
Narf	T	C	11: 121,129,287 (GRCm39)	S24P	probably benign	Het
Ncapg2	A	G	12: 116,390,202 (GRCm39)	I384V	probably benign	Het
Neo1	T	C	9: 58,824,335 (GRCm39)	T698A	probably benign	Het
Nox3	A	G	17: 3,736,198 (GRCm39)	S143P	probably damaging	Het
Nrros	T	C	16: 31,981,057 (GRCm39)	R24G	probably null	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or6b1	T	C	6: 42,815,736 (GRCm39)	V307A	probably benign	Het
Pde9a	T	C	17: 31,685,386 (GRCm39)	S347P	possibly damaging	Het
Pitpnm3	T	C	11: 71,961,222 (GRCm39)	D315G	probably benign	Het
Plaat5	A	G	19: 7,616,830 (GRCm39)		probably benign	Het
Plekha6	C	T	1: 133,200,273 (GRCm39)	A284V	probably benign	Het
Plekhg2	A	G	7: 28,059,684 (GRCm39)	V1215A	probably benign	Het
Ppif	C	A	14: 25,698,711 (GRCm39)	A144E	probably damaging	Het
Ppp1r10	T	C	17: 36,240,453 (GRCm39)	V581A	possibly damaging	Het
Prr12	A	G	7: 44,698,269 (GRCm39)		probably benign	Het
Rfx6	T	C	10: 51,599,949 (GRCm39)	V565A	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Saxo2	A	G	7: 82,284,402 (GRCm39)	V152A	possibly damaging	Het
Sdk2	T	C	11: 113,793,946 (GRCm39)	D86G	probably benign	Het
Shroom3	A	T	5: 93,090,876 (GRCm39)	M1128L	probably benign	Het
Smok2a	C	A	17: 13,444,543 (GRCm39)	T40K	probably benign	Het
Tatdn1	C	T	15: 58,793,118 (GRCm39)		probably null	Het
Tbc1d2	C	A	4: 46,649,712 (GRCm39)	G108V	probably damaging	Het
Tbck	T	C	3: 132,392,703 (GRCm39)	I48T	possibly damaging	Het
Tm7sf3	A	G	6: 146,527,601 (GRCm39)	F75S	possibly damaging	Het
Tmx4	T	C	2: 134,440,719 (GRCm39)	D245G	probably benign	Het
Trim68	A	T	7: 102,333,675 (GRCm39)	D2E	probably damaging	Het
Trps1	T	A	15: 50,685,694 (GRCm39)	Q157L	possibly damaging	Het
Ttc22	A	G	4: 106,495,800 (GRCm39)	T385A	probably benign	Het
Ubap2l	A	T	3: 89,946,155 (GRCm39)	F150I	possibly damaging	Het
Ube2u	C	T	4: 100,389,352 (GRCm39)	R105W	probably damaging	Het
Ubr4	G	A	4: 139,185,545 (GRCm39)		probably null	Het
Unc5b	A	G	10: 60,666,871 (GRCm39)	L25P	probably benign	Het
Usp38	A	G	8: 81,719,958 (GRCm39)	S424P	probably damaging	Het
Vmn1r222	T	A	13: 23,416,374 (GRCm39)	S280C	probably benign	Het
Vmn1r59	A	T	7: 5,457,599 (GRCm39)	F54I	probably benign	Het
Vmn2r-ps117	T	A	17: 19,047,464 (GRCm39)	C536S	probably damaging	Het
Zkscan2	A	C	7: 123,099,196 (GRCm39)		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
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'- CCAGTGTGTCTAATAAGGCTAAAAT -3'
(R):5'- GTTGTACTCGGTCAAAAGATGAAT -3'

Sequencing Primer
(F):5'- atccccttgcttcatgct -3'
(R):5'- TGCTCACTGGTTAAGAGCAC -3'

Posted On

2018-11-06