Incidental Mutation 'IGL02479:Luc7l3'
ID 295089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Luc7l3
Ensembl Gene ENSMUSG00000020863
Gene Name LUC7-like 3 (S. cerevisiae)
Synonyms 3300001P08Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # IGL02479
Quality Score
Status
Chromosome 11
Chromosomal Location 94181899-94213196 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 94187735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021226] [ENSMUST00000107820] [ENSMUST00000107821] [ENSMUST00000107822] [ENSMUST00000166312]
AlphaFold Q5SUF2
Predicted Effect unknown
Transcript: ENSMUST00000021226
AA Change: R318W
SMART Domains Protein: ENSMUSP00000021226
Gene: ENSMUSG00000020863
AA Change: R318W

DomainStartEndE-ValueType
Pfam:LUC7 3 293 2.3e-89 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000107820
AA Change: R318W
SMART Domains Protein: ENSMUSP00000103450
Gene: ENSMUSG00000020863
AA Change: R318W

DomainStartEndE-ValueType
Pfam:LUC7 1 302 4.2e-72 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000107821
AA Change: R318W
SMART Domains Protein: ENSMUSP00000103451
Gene: ENSMUSG00000020863
AA Change: R318W

DomainStartEndE-ValueType
Pfam:LUC7 1 302 4.2e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107822
Predicted Effect unknown
Transcript: ENSMUST00000132623
AA Change: R53W
SMART Domains Protein: ENSMUSP00000131166
Gene: ENSMUSG00000020863
AA Change: R53W

DomainStartEndE-ValueType
coiled coil region 1 31 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135311
Predicted Effect probably benign
Transcript: ENSMUST00000138369
Predicted Effect unknown
Transcript: ENSMUST00000166312
AA Change: R318W
SMART Domains Protein: ENSMUSP00000129919
Gene: ENSMUSG00000020863
AA Change: R318W

DomainStartEndE-ValueType
Pfam:LUC7 1 300 7.9e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171033
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 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,639,461 (GRCm39) Y528C probably damaging Het
Adam24 T A 8: 41,132,571 (GRCm39) I13N probably benign Het
Arsj T C 3: 126,232,588 (GRCm39) S445P possibly damaging Het
Btf3l4 G A 4: 108,683,373 (GRCm39) T31I possibly damaging Het
Cask A T X: 13,423,297 (GRCm39) D502E probably damaging Het
Cenpl T A 1: 160,910,637 (GRCm39) S195T probably benign Het
Clhc1 T A 11: 29,528,107 (GRCm39) I545N probably damaging Het
Clrn2 T C 5: 45,621,254 (GRCm39) I216T probably benign Het
Csf2rb C T 15: 78,225,924 (GRCm39) Q332* probably null Het
Cyp3a44 T C 5: 145,727,477 (GRCm39) D284G probably benign Het
Dgka T C 10: 128,566,115 (GRCm39) E345G probably benign Het
Dync1i2 G A 2: 71,066,323 (GRCm39) V128I probably damaging Het
Eno3 T A 11: 70,551,714 (GRCm39) probably benign Het
Epc2 T A 2: 49,422,147 (GRCm39) I347K probably benign Het
F8 A T X: 74,331,846 (GRCm39) N681K probably damaging Het
Fancm T A 12: 65,153,259 (GRCm39) D1238E probably damaging Het
Fcna T A 2: 25,515,272 (GRCm39) Q237L probably benign Het
Fpr2 A T 17: 18,113,074 (GRCm39) R23S probably benign Het
Frmd3 A G 4: 74,105,752 (GRCm39) D466G probably benign Het
Gen1 C A 12: 11,291,936 (GRCm39) V618L probably benign Het
Gja4 T C 4: 127,206,217 (GRCm39) E182G probably benign Het
Gsdmc T A 15: 63,649,824 (GRCm39) I356F possibly damaging Het
Kctd19 T C 8: 106,111,400 (GRCm39) D102G probably damaging Het
Lrit2 T C 14: 36,794,235 (GRCm39) L433P probably damaging Het
Lrp2 G A 2: 69,295,145 (GRCm39) probably benign Het
Map3k5 T A 10: 19,932,230 (GRCm39) L458Q probably damaging Het
Mast4 A G 13: 102,878,545 (GRCm39) S1038P probably damaging Het
Med12 A T X: 100,340,598 (GRCm39) probably benign Het
Mtor T A 4: 148,555,041 (GRCm39) L888M probably damaging Het
Nova1 A T 12: 46,863,701 (GRCm39) I83N unknown Het
Obscn A G 11: 58,947,053 (GRCm39) probably benign Het
Or11q2 T C X: 48,772,742 (GRCm39) V121A probably benign Het
Or4d10c T A 19: 12,065,269 (GRCm39) M296L probably benign Het
Or4f15 A C 2: 111,813,730 (GRCm39) S230A probably benign Het
Or6k2 C A 1: 173,986,520 (GRCm39) Y60* probably null Het
Pde2a A G 7: 101,150,290 (GRCm39) Y243C probably damaging Het
Pdzd8 T A 19: 59,288,215 (GRCm39) K1062* probably null Het
Phc1 A T 6: 122,300,676 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,863,730 (GRCm39) S764T probably benign Het
Pmp2 T G 3: 10,247,262 (GRCm39) R89S probably benign Het
Prdm2 A G 4: 142,861,499 (GRCm39) L597P probably damaging Het
Rfx6 T A 10: 51,554,424 (GRCm39) D88E probably benign Het
Rgs9 T C 11: 109,116,478 (GRCm39) S442G possibly damaging Het
Ror2 C T 13: 53,285,968 (GRCm39) R82Q possibly damaging Het
Sez6 C A 11: 77,868,852 (GRCm39) A986E possibly damaging Het
Slc5a5 T A 8: 71,341,555 (GRCm39) M325L possibly damaging Het
Slx9 T C 10: 77,350,161 (GRCm39) S76G probably damaging Het
Sppl2c G A 11: 104,077,763 (GRCm39) V188I probably benign Het
Srrm3 G T 5: 135,864,103 (GRCm39) C67F probably damaging Het
Stk31 A G 6: 49,398,622 (GRCm39) E341G probably damaging Het
Svil A T 18: 5,099,476 (GRCm39) M1267L probably damaging Het
Tas2r135 C T 6: 42,382,685 (GRCm39) R75* probably null Het
Trav8d-1 T C 14: 53,016,257 (GRCm39) S48P probably benign Het
Vrk1 A T 12: 106,017,261 (GRCm39) Q95L probably benign Het
Wdr25 C A 12: 108,864,527 (GRCm39) T224K probably benign Het
Wdr37 A T 13: 8,892,820 (GRCm39) H224Q probably damaging Het
Zhx1 C T 15: 57,917,767 (GRCm39) E160K probably damaging Het
Other mutations in Luc7l3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9663:Luc7l3 UTSW 11 94,187,756 (GRCm39) missense unknown
Z1177:Luc7l3 UTSW 11 94,212,601 (GRCm39) frame shift probably null
Posted On 2015-04-16